>>1
LOCUSID: 1
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_130786|21071029|na
NP: NP_570602|21071030
CDD: smart00408: Immunoglobulin C-2 Type|365|103|na|4.388540e+01
PRODUCT: alpha 1B-glycoprotein
ASSEMBLY: AF414429,AK055885,AK056201
CONTIG: NT_011109.15|29800594|na|31124734|31133047|-|19|reference
EVID: supported by alignment with mRNA
XM: NM_130786|21071029|na
XP: NP_570602|21071030|na
ACCNUM: AC010642|9929687|na|43581|41119
TYPE: g
ACCNUM: AF414429|15778555|na|na|na
TYPE: m
PROT: AAL07469|15778556|1
ACCNUM: AK055885|16550723|na|na|na
TYPE: m
ACCNUM: AK056201|16551539|na|na|na
TYPE: m
ACCNUM: BC035719|23273475|na|na|na
TYPE: m
PROT: AAH35719|23273476|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P04217|46577680|0
OFFICIAL_SYMBOL: A1BG
OFFICIAL_GENE_NAME: alpha-1-B glycoprotein
ALIAS_SYMBOL: A1B
ALIAS_SYMBOL: ABG
ALIAS_SYMBOL: GAB
PREFERRED_PRODUCT: alpha 1B-glycoprotein
SUMMARY: Summary: The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins.
CHR: 19
STS: RH65092|-|10673|na|na|epcr
STS: WI-16009|-|52209|na|na|epcr
STS: G59506|-|136670|na|na|epcr
COMP: 11167|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A1[id]+AND+gene[obj_type]&QSTR=a1bg&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=390608
UNIGENE: Hs.390608
OMIM: 138670
MAP: 19q13.4|RefSeq|C|
MAPLINK: default_human_gene|A1BG
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=1
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119638
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_130786
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_130786
PMID: 14702039,12477932,8889549,3458201,2591067
GO: biological process|biological_process unknown|ND|GO:0000004|GOA|na
GO: cellular component|extracellular|IDA|GO:0005576|GOA|3458201
GO: molecular function|molecular_function unknown|ND|GO:0005554|GOA|3458201
>>2
LOCUSID: 2
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000014|6226959|na
NP: NP_000005|4557225
CDD: pfam00207: Alpha-2-macroglobulin family|5952|2318|na|8.970050e+02
CDD: pfam01835: Alpha-2-macroglobulin family N-terminal region|17056|1888|na|7.313060e+02
CDD: KOG1366: Alpha-macroglobulin [Posttranslational modification, protein turnover, chaperones]|19155|3406|na|1.316160e+03
PRODUCT: alpha-2-macroglobulin precursor
ASSEMBLY: M11313
CONTIG: NT_009714.16|37543832|na|1979284|2027463|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_000014|6226959|na
XP: NP_000005|4557225|na
ACCNUM: X68728|450521|na|na|na
TYPE: g
PROT: CAA48670|825615|1
ACCNUM: Z11711|24760|na|na|na
TYPE: g
PROT: CAA77774|24761|1
ACCNUM: AY591530|46812314|na|na|na
TYPE: m
PROT: AAT02228|46812315|1
ACCNUM: BC026246|45708660|na|na|na
TYPE: m
PROT: AAH26246|45708661|1
ACCNUM: BC040071|25303945|na|na|na
TYPE: m
PROT: AAH40071|25303946|1
ACCNUM: M11313|177869|na|na|na
TYPE: m
PROT: AAA51551|177870|1
ACCNUM: M36501|177871|na|na|na
TYPE: m
PROT: AAA51552|177872|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P01023|112911|0
OFFICIAL_SYMBOL: A2M
OFFICIAL_GENE_NAME: alpha-2-macroglobulin
PREFERRED_PRODUCT: alpha-2-macroglobulin precursor
SUMMARY: Summary: Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits.
CHR: 12
STS: SGC31674|12|40245|na|na|epcr
STS: RH11157|12|46849|na|na|epcr
STS: G44356|12|95143|na|seq_map|epcr
COMP: 1|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A2[id]+AND+gene[obj_type]&QSTR=a2m&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74561
UNIGENE: Hs.74561
OMIM: 103950
MAP: 12p13.3-p12.3|HUGO|C|
MAPLINK: default_human_gene|A2M
PHENOTYPE: Alzheimer disease, susceptibility to
PHENOTYPE_ID: 103950
PHENOTYPE: Emphysema due to alpha-2-macroglobulin deficiency
PHENOTYPE_ID: 103950
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=2
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119639
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119639.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000014
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000014
DB_DESCR: KEGG pathway: Alzheimer's disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05010+2
DB_DESCR: KEGG pathway: Coagulation cascade
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04610+2
DB_DESCR: KEGG pathway: Complement and coagulation cascades
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04610+2
PMID: 15023809,14718574,14715656,14678766,14675603,14637088,14506912,12966032,12755687,12755614,12631277,12477932,12221172,12175343,12062545,12042276,12015318,11910179,11901360,11823454,11811950,11435418,11100124,2581245,2408344,1707161,1370808,1281457
GO: molecular function|enzyme binding|IPI|GO:0019899|GOA|11435418
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: biological process|intracellular protein transport|NR|GO:0006886|GOA|na
GO: molecular function|protein carrier activity|NR|GO:0008320|GOA|na
GO: molecular function|protein homooligomerization activity|NAS|GO:0042804|GOA|na
GO: molecular function|serine-type endopeptidase inhibitor activity|IEA|GO:0004867|GOA|na
GO: molecular function|wide-spectrum protease inhibitor activity|IEA|GO:0017114|GOA|na
>>3
LOCUSID: 3
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001067|20270626|na|1|3003
CONTIG: NT_009714.16|37543832|na|2143176|2145882|-|12|na
EVID: alignment with NG_001067
XG: NG_001067|20270626|na
ACCNUM: M24415|187575|na|177|2881
TYPE: g
OFFICIAL_SYMBOL: A2MP
OFFICIAL_GENE_NAME: alpha-2-macroglobulin pseudogene
CHR: 12
MAP: 12p13.3-p12.3|HUGO|C|
MAPLINK: default_human_gene|A2MP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=3
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128103
PMID: 2478422
>>8
LOCUSID: 8
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AA
OFFICIAL_GENE_NAME: atrophia areata, peripapillary chorioretinal degeneration
CHR: 11
STS: D11S902|11|31863|D11S902|seq_map|7795606
STS: D11S1323|11|67612|D11S1323|seq_map|7795606
OMIM: 108985
MAP: 11p15|HUGO|C|
MAPLINK: default_human_cyto|AA
PHENOTYPE: Atrophia areata
PHENOTYPE_ID: 108985
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:568984
PMID: 7795606
>>9
LOCUSID: 9
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_000662|42741670|na
NP: NP_000653|42741671
CDD: pfam00797: N-acetyltransferase|1353|1195|na|4.643840e+02
PRODUCT: N-acetyltransferase 1
ASSEMBLY: AV754344,BC047666,BQ024509
CONTIG: NT_030737.8|37552654|na|5890332|5891652|+|8|reference
EVID: supported by alignment with mRNA
XM: NM_000662|42741670|na
XP: NP_000653|42741671|na
ACCNUM: AF008204|2618821|na|na|na
TYPE: g
PROT: AAB84384|2258431|1
ACCNUM: AF032677|2641552|na|na|na
TYPE: g
PROT: AAB86878|2641553|1
ACCNUM: AF032678|2641554|na|na|na
TYPE: g
PROT: AAB86879|2641555|1
ACCNUM: AF067408|3265061|na|na|na
TYPE: g
PROT: AAC24707|3265062|1
ACCNUM: AF071552|3265151|na|na|na
TYPE: g
PROT: AAC24712|3265152|1
ACCNUM: AF082903|3435297|na|na|na
TYPE: g
PROT: AAD13343|3435298|1
ACCNUM: AF082904|3435299|na|na|na
TYPE: g
PROT: AAC32388|3435300|1
ACCNUM: U80835|2245375|na|na|na
TYPE: g
PROT: AAB62398|2245376|1
ACCNUM: X17059|34993|na|na|na
TYPE: g
PROT: CAA34905|34994|1
ACCNUM: AV754344|10912192|na|na|na
TYPE: m
ACCNUM: BC013732|16975545|na|na|na
TYPE: m
ACCNUM: BC047666|28838335|na|na|na
TYPE: m
PROT: AAH47666|28838336|1
ACCNUM: BQ024509|19759788|na|na|na
TYPE: m
ACCNUM: BX647521|34366678|na|na|na
TYPE: m
ACCNUM: D90041|219413|na|na|na
TYPE: m
PROT: BAA14095|219414|1
OFFICIAL_SYMBOL: NAT1
OFFICIAL_GENE_NAME: N-acetyltransferase 1 (arylamine N-acetyltransferase)
ALIAS_SYMBOL: AAC1
PREFERRED_PRODUCT: N-acetyltransferase 1
CHR: 8
STS: STS-D90041|8|57372|na|seq_map|epcr
STS: RH70671|8|63787|na|seq_map|epcr
STS: PMC165273P2|-|271536|na|na|epcr
ALIAS_PROT: arylamine N-acetyltransferase-1
ALIAS_PROT: arylamide acetylase 1 (N-acetyltransferase 1)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155956
UNIGENE: Hs.155956
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=458430
UNIGENE: Hs.458430
OMIM: 108345
ECNUM: 2.3.1.5
MAP: 8p23.1-p21.3|HUGO|C|
MAPLINK: default_human_gene|NAT1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=9
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=9[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125364
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000662
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000662
DB_DESCR: PharmGKB: PA17
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA17
DB_DESCR: Arylamine N-Acetyltransferase Nomenclature
DB_LINK: http://www.louisville.edu/medschool/pharmacology/NAT.html
PMID: 15039438,14705222,14672957,14608357,14517345,12946272,12902152,12860276,12832400,12692115,12682333,12485520,12477932,12355549,12052143,12037388,11955677,11955676,11927838,10908296,10862520,9168895,7773298,2340091,1968463
>>10
LOCUSID: 10
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000015|4557782|na
NP: NP_000006|4557783
CDD: pfam00797: N-acetyltransferase|1353|999|na|3.888850e+02
PRODUCT: arylamide acetylase 2
ASSEMBLY: D90042
CONTIG: NT_030737.8|37552654|na|6059676|6069603|+|8|reference
EVID: supported by alignment with mRNA
XM: NM_000015|4557782|na
XP: NP_000006|4557783|na
ACCNUM: AF042740|2801806|na|na|na
TYPE: g
PROT: AAC03773|2801807|1
ACCNUM: AF055874|3063613|na|na|na
TYPE: g
PROT: AAC14117|3063614|1
ACCNUM: AF055875|3063615|na|na|na
TYPE: g
PROT: AAC14118|3063616|1
ACCNUM: AY331807|32402490|na|na|na
TYPE: g
PROT: AAP81164|32402491|1
ACCNUM: D10870|219871|na|na|na
TYPE: g
PROT: BAA01640|219872|1
ACCNUM: D10871|219874|na|na|na
TYPE: g
PROT: BAA01641|219875|1
ACCNUM: D10872|219877|na|na|na
TYPE: g
PROT: BAA01642|219878|1
ACCNUM: M75163|189075|na|na|na
TYPE: g
PROT: AAA59906|553602|1
ACCNUM: M75164|189072|na|na|na
TYPE: g
PROT: AAA59905|553601|1
ACCNUM: U23052|747646|na|na|na
TYPE: g
PROT: AAA64584|727413|1
ACCNUM: U23434|727456|na|na|na
TYPE: g
PROT: AAA64585|727457|1
ACCNUM: U53473|1297331|na|na|na
TYPE: g
PROT: AAA98976|1297332|1
ACCNUM: X14672|28227|na|na|na
TYPE: g
PROT: CAA32802|28228|1
ACCNUM: BC015878|16198419|na|na|na
TYPE: m
PROT: AAH15878|16198420|1
ACCNUM: BC067218|45501306|na|na|na
TYPE: m
PROT: AAH67218|45501307|1
ACCNUM: CR407631|47115198|na|na|na
TYPE: m
PROT: CAG28559|47115199|1
ACCNUM: D90040|219411|na|na|na
TYPE: m
PROT: BAA14094|219412|1
ACCNUM: D90042|219415|na|na|na
TYPE: m
PROT: BAA14096|219416|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P11245|114238|0
OFFICIAL_SYMBOL: NAT2
OFFICIAL_GENE_NAME: N-acetyltransferase 2 (arylamine N-acetyltransferase)
ALIAS_SYMBOL: AAC2
PREFERRED_PRODUCT: arylamide acetylase 2
SUMMARY: Summary: The intronless NAT2 gene encodes N-acetyltransferase 2 (arylamine N-acetyltransferase 2). This enzyme functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are reponsible for the N-acetylation polymorphism in which human populations segregate into rapid,intermediate, and slow acetylator phenotypes. Polymorphisms in NAT2 are also associated with higher incidences of cancer and drug toxicity.A second arylamine N-acetyltransferase gene (NAT1) is located near NAT2.
CHR: 8
STS: G06461|8|17088|na|seq_map|epcr
STS: WIAF-2120|8|44576|na|seq_map|epcr
STS: G59899|8|137181|na|seq_map|epcr
STS: GDB:187676|8|155563|na|seq_map|epcr
STS: GDB:310612|8|156422|na|seq_map|epcr
STS: GDB:310613|8|156423|na|seq_map|epcr
STS: GDB:386004|8|157141|na|seq_map|epcr
STS: PMC310725P3|-|272646|na|na|epcr
ALIAS_PROT: Arylamine N-acetyltransferase-2
ALIAS_PROT: arylamide acetylase 2 (N-acetyltransferase 2, isoniazid inactivation)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2
UNIGENE: Hs.2
OMIM: 243400
ECNUM: 2.3.1.5
MAP: 8p22|HUGO|C|
MAPLINK: default_human_gene|NAT2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=10
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125365
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000015
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000015
DB_DESCR: PharmGKB: PA18
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA18
DB_DESCR: Arylamine N-Acetyltransferase Nomenclature
DB_LINK: http://www.louisville.edu/medschool/pharmacology/NAT.html
PMID: 15005011,14705222,14618622,14528063,12884528,12877350,12860276,12835615,12773763,12760253,12724621,12692115,12682333,12654968,12622714,12611196,12477932,12474054,12469231,12465141,12430181,12397635,12360107,12355549,12235453,12222688,12163321,12037388,12016157,12015038,11915035,11872636,11846845,8460648,8102597,7915226,7773298,2734109,2340091,1968463,1676262,1381364,1306121
GO: molecular function|acetyltransferase activity|IEA|GO:0016407|GOA|na
GO: molecular function|arylamine N-acetyltransferase activity|TAS|GO:0004060|GOA|2340091
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>11
LOCUSID: 11
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AACP
OFFICIAL_GENE_NAME: arylamide acetylase pseudogene
ALIAS_SYMBOL: NATP
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132838
PMID: 2340091
>>12
LOCUSID: 12
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001085|50659079|na
NP: NP_001076|50659080
CDD: cd00172: SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms|5278|1179|na|4.581140e+02
PRODUCT: serine (or cysteine) proteinase inhibitor, clade A, member 3 precursor
ASSEMBLY: BC003559,BG565041
CONTIG: NT_026437.10|29736559|na|75000812|75010432|+|14|reference
EVID: supported by alignment with mRNA
XM: NM_001085|50659079|na
XP: NP_001076|50659080|na
ACCNUM: X00947|28331|na|na|na
TYPE: g
PROT: CAA25459|28332|1
ACCNUM: X68733|439137|na|na|na
TYPE: g
PROT: CAA48671|1340142|1
ACCNUM: AF089747|4165889|na|na|na
TYPE: m
PROT: AAD08810|4165890|1
ACCNUM: AK093049|21751790|na|na|na
TYPE: m
ACCNUM: AK096120|21755531|na|na|na
TYPE: m
ACCNUM: AK123091|34528556|na|na|na
TYPE: m
ACCNUM: BC003559|13097704|na|na|na
TYPE: m
PROT: AAH03559|13097705|1
ACCNUM: BC010530|14714765|na|na|na
TYPE: m
PROT: AAH10530|14714766|1
ACCNUM: BC013189|15341984|na|na|na
TYPE: m
PROT: AAH13189|15341985|1
ACCNUM: BC034554|21961492|na|na|na
TYPE: m
PROT: AAH34554|21961493|1
ACCNUM: BG565041|13572694|na|na|na
TYPE: m
ACCNUM: J05176|177932|na|na|na
TYPE: m
PROT: AAA51560|177933|1
ACCNUM: K01500|177808|na|na|na
TYPE: m
PROT: AAA51543|177809|1
ACCNUM: M18906|177928|na|na|na
TYPE: m
PROT: AAA51559|177931|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P01011|112874|0
OFFICIAL_SYMBOL: SERPINA3
OFFICIAL_GENE_NAME: serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
ALIAS_SYMBOL: ACT
ALIAS_SYMBOL: AACT
PREFERRED_PRODUCT: serine (or cysteine) proteinase inhibitor, clade A, member 3 precursor
SUMMARY: Summary: The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class.  Polymorphisms in this protein appear to be tissue specific and influence protease targeting.  Variation in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease.  Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease.
CHR: 14
STS: RH1625|14|32177|na|seq_map|epcr
STS: SHGC-32982|14|37467|na|na|epcr
STS: D14S845|14|64155|D14S845|seq_map|epcr
STS: G31126|14|66238|na|seq_map|epcr
STS: G31108|-|66462|na|na|epcr
STS: RH78280|14|74665|na|seq_map|epcr
STS: RH91507|14|86678|na|seq_map|epcr
STS: D14S1143|-|148321|D14S1143|na|epcr
STS: PMC27764P1|-|272387|na|na|epcr
ALIAS_PROT: antichymotrypsin
ALIAS_PROT: alpha-1-antichymotrypsin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76353
UNIGENE: Hs.76353
OMIM: 107280
MAP: 14q32.1|HUGO|C|
MAPLINK: default_human_gene|SERPINA3
PHENOTYPE: Alpha-1-antichymotrypsin deficiency
PHENOTYPE_ID: 107280
PHENOTYPE: Cerebrovascular disease, occlusive
PHENOTYPE_ID: 107280
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=12
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=12[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118955
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001085
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001085
DB_DESCR: KEGG pathway: Alzheimer's disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05010+12
PMID: 15014966,14718574,14702039,12709365,12600202,12477932,12475184,12324297,12023832,11992569,11959399,11936240,11835318,11798857,11692021,9880565,8244391,6687683,6606438,6556193,6547997,3492865,3485824,3260956,3257719,2404007,1351206
GO: molecular function|DNA binding|IC|GO:0003677|GOA|9880565
GO: biological process|acute-phase response|IEA|GO:0006953|GOA|na
GO: molecular function|chymotrypsin inhibitor activity|NAS|GO:0030569|GOA|9880565
GO: cellular component|extracellular|NAS|GO:0005576|GOA|9880565,14718574
GO: biological process|inflammatory response|NAS|GO:0006954|GOA|12475184
GO: cellular component|intracellular|NAS|GO:0005622|GOA|9880565
GO: molecular function|protein binding|IPI|GO:0005515|GOA|12709365
GO: biological process|regulation of lipid metabolism|NAS|GO:0019216|GOA|11835318
>>13
LOCUSID: 13
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001086|4557226|na
NP: NP_001077|4557227
CDD: COG0657: Esterase/lipase [Lipid metabolism]|10527|379|na|1.504530e+02
CDD: KOG1515: Arylacetamide deacetylase [Defense mechanisms]|19303|757|na|2.956880e+02
PRODUCT: arylacetamide deacetylase
ASSEMBLY: L32179
CONTIG: NT_005612.14|37550867|na|58027020|58041428|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_001086|4557226|na
XP: NP_001077|4557227|na
ACCNUM: BC020706|18088402|na|na|na
TYPE: m
ACCNUM: BC032309|21595550|na|na|na
TYPE: m
PROT: AAH32309|21595551|1
ACCNUM: L32179|537513|na|na|na
TYPE: m
PROT: AAA35551|537514|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P22760|1703031|0
OFFICIAL_SYMBOL: AADAC
OFFICIAL_GENE_NAME: arylacetamide deacetylase (esterase)
ALIAS_SYMBOL: DAC
PREFERRED_PRODUCT: arylacetamide deacetylase
SUMMARY: Summary: Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens
CHR: 3
STS: STS-L32179|3|13170|na|seq_map|epcr
STS: D3S4189|-|18863|D3S4189|na|epcr
STS: RH36344|3|24707|na|seq_map|epcr
STS: RH124029|-|136046|na|na|epcr
COMP: 31012|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A13[id]+AND+gene[obj_type]&QSTR=aadac&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=444003
UNIGENE: Hs.444003
OMIM: 600338
ECNUM: 3.1.1.-
MAP: 3q21.3-q25.2|RefSeq|C|
MAPLINK: default_human_gene|AADAC
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=13
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=13[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:392587
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001086
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001086
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+13
DB_DESCR: KEGG pathway: 2,4-Dichlorobenzoate degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00623+13
DB_DESCR: KEGG pathway: Pentose and glucuronate interconversions
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00040+13
DB_DESCR: KEGG pathway: Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00563+13
PMID: 12721789,12477932,9299245,8063807
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: cellular component|microsome|TAS|GO:0005792|GOA|8063807
>>14
LOCUSID: 14
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001087|4557228|na
NP: NP_001078|4557229
CDD: KOG0296: Angio-associated migratory cell protein (contains WD40 repeats) [Function unknown]|18092|1175|na|4.567260e+02
PRODUCT: angio-associated, migratory cell protein
ASSEMBLY: M95627
CONTIG: NT_005403.14|37551287|na|69338266|69344273|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_001087|4557228|na
XP: NP_001078|4557229|na
ACCNUM: AK131047|34528300|na|na|na
TYPE: m
ACCNUM: BC008809|39644831|na|na|na
TYPE: m
PROT: AAH08809|39644832|2
ACCNUM: BC014122|33874729|na|na|na
TYPE: m
PROT: AAH14122|33874730|1
ACCNUM: BC020244|18044383|na|na|na
TYPE: m
PROT: AAH20244|18044384|1
ACCNUM: BC039866|25123215|na|na|na
TYPE: m
ACCNUM: CR456755|48145626|na|na|na
TYPE: m
PROT: CAG33036|48145627|1
ACCNUM: M95627|870802|na|na|na
TYPE: m
PROT: AAA68889|870803|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13685|3121739|0
OFFICIAL_SYMBOL: AAMP
OFFICIAL_GENE_NAME: angio-associated, migratory cell protein
PREFERRED_PRODUCT: angio-associated, migratory cell protein
SUMMARY: Summary: The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion.
CHR: 2
STS: SGC31591|2|52581|na|seq_map|epcr
COMP: 846|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A14[id]+AND+gene[obj_type]&QSTR=aamp&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83347
UNIGENE: Hs.83347
OMIM: 603488
MAP: 2q35|RefSeq|C|
MAPLINK: default_human_gene|AAMP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=14
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=14[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:4573993
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001087
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001087
PMID: 12477932,7743515
GO: biological process|cell motility|NR|GO:0006928|GOA|na
GO: molecular function|heparin binding|TAS|GO:0008201|GOA|7743515
>>15
LOCUSID: 15
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001088|4501844|na
NP: NP_001079|4501845
CDD: pfam00583: Acetyltransferase (GNAT) family|25558|94|na|4.023140e+01
PRODUCT: arylalkylamine N-acetyltransferase
ASSEMBLY: U40347
CONTIG: NT_010641.14|37542591|na|8355812|8358360|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_001088|4501844|na
XP: NP_001079|4501845|na
ACCNUM: U40391|1389593|na|na|na
TYPE: g
PROT: AAC50555|1389594|1
ACCNUM: BC069434|46854803|na|na|na
TYPE: m
PROT: AAH69434|46854804|1
ACCNUM: U40347|1389591|na|na|na
TYPE: m
PROT: AAC50554|1389592|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q16613|11387096|0
OFFICIAL_SYMBOL: AANAT
OFFICIAL_GENE_NAME: arylalkylamine N-acetyltransferase
ALIAS_SYMBOL: SNAT
ALIAS_SYMBOL: AA-NAT
PREFERRED_PRODUCT: arylalkylamine N-acetyltransferase
SUMMARY: Summary: Arylalkylamine N-acetyltransferase belongs to the superfamily of acetyltransferases. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for seasonal reproduction, modulates the function of the circadian clock in the suprachiasmatic nucleus, and influences activity and sleep. This enzyme is rapidly inactivated when animals are exposed to light at night. This protein is 80% identical to sheep and rat AA-NAT. Arylalkylamine N-acetyltransferase may contribute a multifactorial genetic diseases such as altered behavior in sleep/wake cycle.
CHR: 17
COMP: 31013|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A15[id]+AND+gene[obj_type]&QSTR=aanat&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: serotonin N-acetyltransferase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=431417
UNIGENE: Hs.431417
OMIM: 600950
ECNUM: 2.3.1.87
MAP: 17q25|RefSeq|C|
MAPLINK: default_human_gene|AANAT
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=15
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=15[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:700076
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001088
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001088
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.500+OR+arev.section.520+OR+arev.section.524
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+15
DB_DESCR: PharmGKB: PA24366
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24366
PMID: 12736803,12477932,9238858,8661026,7502081,2181999
GO: molecular function|acyltransferase activity|IEA|GO:0008415|GOA|na
GO: molecular function|aralkylamine N-acetyltransferase activity|TAS|GO:0004059|GOA|8661026
GO: biological process|circadian rhythm|TAS|GO:0007623|GOA|8661026
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>16
LOCUSID: 16
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001605|4501840|na
NP: NP_001596|4501841
CDD: pfam02272: DHHA1 domain|8239|123|na|5.133080e+01
CDD: pfam01411: tRNA synthetases class II (A)|16947|2482|na|9.600530e+02
PRODUCT: alanyl-tRNA synthetase
ASSEMBLY: D32050
CONTIG: NT_010498.14|37541544|na|19007819|19044938|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_001605|4501840|na
XP: NP_001596|4501841|na
ACCNUM: BC011451|15079237|na|na|na
TYPE: m
PROT: AAH11451|15079238|1
ACCNUM: D16969|598562|na|na|na
TYPE: m
ACCNUM: D32050|1015320|na|na|na
TYPE: m
PROT: BAA06808|1015321|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P49588|1351144|0
OFFICIAL_SYMBOL: AARS
OFFICIAL_GENE_NAME: alanyl-tRNA synthetase
PREFERRED_PRODUCT: alanyl-tRNA synthetase
SUMMARY: Summary: The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes.  Class II tRNA synthases evolved early in evolution and are highly conserved.  This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein.  tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons.  They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure.
CHR: 16
STS: RH66606|16|19748|na|na|epcr
STS: A002L29|16|35285|na|seq_map|epcr
STS: RH65736|16|75263|na|seq_map|epcr
COMP: 1213|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A16[id]+AND+gene[obj_type]&QSTR=aars&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=315137
UNIGENE: Hs.315137
OMIM: 601065
ECNUM: 6.1.1.7
MAP: 16q22|HUGO|C|
MAPLINK: default_human_gene|AARS
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=16
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=16[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:595485
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001605
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001605
DB_DESCR: KEGG pathway: Aminoacyl-tRNA biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00970+16
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+16
PMID: 12477932,8595897,8076819,7761427,7654687,2915692
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|alanine-tRNA ligase activity|IEA|GO:0004813|GOA|na
GO: biological process|alanyl-tRNA aminoacylation|TAS|GO:0006419|GOA|7761427
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|7654687
GO: molecular function|ligase activity|IEA|GO:0016874|GOA|na
GO: molecular function|nucleic acid binding|IEA|GO:0003676|GOA|na
GO: biological process|protein biosynthesis|IEA|GO:0006412|GOA|na
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|7654687
GO: molecular function|tRNA binding|TAS|GO:0000049|GOA|7654687
GO: biological process|tRNA processing|TAS|GO:0008033|GOA|7654687
>>17
LOCUSID: 17
LOCUS_CONFIRMED: yes
LOCUS_TYPE: region
ORGANISM: Homo sapiens
ACCNUM: S51329|261958|na|na|na
TYPE: g
OFFICIAL_SYMBOL: AAVS1
OFFICIAL_GENE_NAME: adeno-associated virus integration site 1
ALIAS_SYMBOL: AAV
CHR: 19
OMIM: 102699
MAP: 19q13|HUGO|C|19q13-qter|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102699">OMIM</a>|C|
MAPLINK: default_human_cyto|AAVS1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125369
PMID: 1334463
>>18
LOCUSID: 18
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000663|38679949|na
NP: NP_000654|38679950
CDD: KOG1405: 4-aminobutyrate aminotransferase [Amino acid transport and metabolism]|19194|2146|na|8.307470e+02
PRODUCT: 4-aminobutyrate aminotransferase precursor
TRANSVAR: Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1.
ASSEMBLY: AF237813,BC008990,BC013965,BC015628,BG749438,BG818982,BI602086,BX537362,L32961
NM: NM_020686|38679945|na
NP: NP_065737|38679946
CDD: KOG1405: 4-aminobutyrate aminotransferase [Amino acid transport and metabolism]|19194|2146|na|8.307470e+02
PRODUCT: 4-aminobutyrate aminotransferase precursor
TRANSVAR: Transcript Variant: This variant (1) is the longer transcript.
ASSEMBLY: AF237813,BC008990,BC015628,BG818982,BI459888,BI602086,BX537362
CONTIG: NT_010393.14|37541485|na|81524|191511|+|16|reference
EVID: supported by alignment with mRNA
XM: NM_000663|38679949|na
XP: NP_000654|38679950|na
EVID: supported by alignment with mRNA
XM: NM_020686|38679945|na
XP: NP_065737|38679946|na
ACCNUM: AF237813|9963907|na|na|na
TYPE: m
PROT: AAG09758|9963908|1
ACCNUM: AK096146|21755563|na|na|na
TYPE: m
ACCNUM: AL137454|6808031|na|na|na
TYPE: m
ACCNUM: BC008990|14290449|na|na|na
TYPE: m
PROT: AAH08990|14290450|1
ACCNUM: BC013965|38197231|na|na|na
TYPE: m
ACCNUM: BC015628|33874525|na|na|na
TYPE: m
PROT: AAH15628|15990487|1
ACCNUM: BC031413|21618651|na|na|na
TYPE: m
PROT: AAH31413|21618652|1
ACCNUM: BG749438|14060091|na|na|na
TYPE: m
ACCNUM: BG818982|14166569|na|na|na
TYPE: m
ACCNUM: BI459888|15250544|na|na|na
TYPE: m
ACCNUM: BI602086|15495012|na|na|na
TYPE: m
ACCNUM: BX537362|31873231|na|na|na
TYPE: m
ACCNUM: L32961|602704|na|na|na
TYPE: m
PROT: AAA74449|602705|1
ACCNUM: S75578|914103|na|na|na
TYPE: m
PROT: AAD14176|4261876|1
ACCNUM: U80226|1724132|na|na|na
TYPE: m
PROT: AAB38510|1724133|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P80404|48429239|0
OFFICIAL_SYMBOL: ABAT
OFFICIAL_GENE_NAME: 4-aminobutyrate aminotransferase
ALIAS_SYMBOL: GABAT
ALIAS_SYMBOL: NPD009
ALIAS_SYMBOL: GABA-AT
PREFERRED_PRODUCT: 4-aminobutyrate aminotransferase precursor
SUMMARY: Summary: 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Two alternatively spliced transcript variants encoding the same protein isoform have been found for this gene.
CHR: 16
STS: G19624|16|9863|na|seq_map|epcr
STS: A001T16|16|9864|na|seq_map|epcr
STS: RH69040|16|75760|na|seq_map|epcr
STS: RH65230|-|87059|na|na|epcr
STS: SHGC-81875|16|103990|na|seq_map|epcr
STS: SHGC-153405|-|177726|na|na|epcr
STS: SHGC-156252|-|183005|na|na|epcr
COMP: 542|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A18[id]+AND+gene[obj_type]&QSTR=abat&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: NPD009 protein
ALIAS_PROT: GABA transferase
ALIAS_PROT: GABA aminotransferase
ALIAS_PROT: gamma-amino-N-butyrate transaminase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1588
UNIGENE: Hs.1588
OMIM: 137150
ECNUM: 2.6.1.19
MAP: 16p13.2|RefSeq|C|
MAPLINK: default_human_gene|ABAT
PHENOTYPE: GABA-transaminase deficiency
PHENOTYPE_ID: 137150
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=18
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=18[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:581658
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020686
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020686
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+18
DB_DESCR: KEGG pathway: Glutamate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00251+18
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+18
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+18
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+18
PMID: 14702039,12694932,12477932,10407778,7851425,7721088,7305280,6148708
GO: molecular function|(S)-3-amino-2-methylpropionate transaminase activity|IEA|GO:0047298|GOA|na
GO: molecular function|4-aminobutyrate transaminase activity|NAS|GO:0003867|GOA|na
GO: biological process|aminobutyrate metabolism|IEA|GO:0009448|GOA|na
GO: cellular component|mitochondrial matrix|NAS|GO:0005759|GOA|na
GO: biological process|neurotransmitter catabolism|IEA|GO:0042135|GOA|na
GO: biological process|synaptic transmission|NAS|GO:0007268|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>19
LOCUSID: 19
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005502|21536375|na
NP: NP_005493|21536376
CDD: COG1131: ABC-type multidrug transport system, ATPase component [Defense mechanisms]|10851|556|na|2.183090e+02
CDD: KOG0059: Lipid exporter ABCA1 and related proteins, ABC superfamily [Lipid transport and metabolism, General function prediction only]|17857|1433|na|5.562320e+02
PRODUCT: ATP-binding cassette, sub-family A member 1
ASSEMBLY: AF165281,AF275948
CONTIG: NT_008470.16|37540590|na|9204811|9351964|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_005502|21536375|na
XP: NP_005493|21536376|na
ACCNUM: AF165286|5734108|na|na|na
TYPE: g
PROT: AAD49851|5734134|1
ACCNUM: AF165306|5734128|na|na|na
TYPE: g
PROT: AAD49852|5734135|1
ACCNUM: AF165309|5734131|na|na|na
TYPE: g
PROT: AAD49854|5734137|1
ACCNUM: AF165310|5734132|na|na|na
TYPE: g
PROT: AAD49853|5734136|1
ACCNUM: AF275948|9247085|na|na|na
TYPE: g
PROT: AAF86276|9247086|1
ACCNUM: AF287262|13876612|na|na|na
TYPE: g
PROT: AAK43526|13876613|1
ACCNUM: AB055982|15212106|na|na|na
TYPE: m
PROT: BAB63210|15212107|1
ACCNUM: AF165281|5734100|na|na|na
TYPE: m
PROT: AAD49849|5734101|1
ACCNUM: AF285167|9755158|na|na|na
TYPE: m
PROT: AAF98175|9755159|1
ACCNUM: AJ012376|4128032|na|na|na
TYPE: m
PROT: CAA10005|4128033|1
ACCNUM: AK024328|10436685|na|na|na
TYPE: m
PROT: BAB14887|10436686|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O95477|13123945|0
OFFICIAL_SYMBOL: ABCA1
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family A (ABC1), member 1
ALIAS_SYMBOL: TGD
ALIAS_SYMBOL: ABC1
ALIAS_SYMBOL: CERP
ALIAS_SYMBOL: HDLDT1
PREFERRED_PRODUCT: ATP-binding cassette, sub-family A member 1
SUMMARY: Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency.
CHR: 9
STS: RH81050|9|87958|na|seq_map|epcr
STS: PMC33205P1|-|273156|na|na|epcr
STS: ABCA1_2173|-|280414|na|na|epcr
COMP: 21130|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A19[id]+AND+gene[obj_type]&QSTR=abca1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ATP-binding cassette 1
ALIAS_PROT: cholesterol efflux regulatory protein
ALIAS_PROT: high density lipoprotein deficiency, Tangier type, 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147259
UNIGENE: Hs.147259
OMIM: 600046
MAP: 9q31.1|RefSeq|C|
MAPLINK: default_human_gene|ABCA1
PHENOTYPE: Cerebral amyloid angiopathy
PHENOTYPE_ID: 105150
PHENOTYPE: Coronary artery disease in familial hypercholesterolemia, protection against
PHENOTYPE_ID: 143890
PHENOTYPE: HDL deficiency, familial
PHENOTYPE_ID: 604091
PHENOTYPE: Tangier disease
PHENOTYPE_ID: 205400
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=19
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=19[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:305294
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005502
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005502
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155
DB_DESCR: Genes and Disease
DB_LINK: http://www.ncbi.nlm.nih.gov/disease/tangier.html
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
PMID: 15033469,15024730,14986172,14967052,14767869,14747463,14734645,14702039,14701850,14701824,14701812,14681836,14668333,14660648,14576201,14570867,14560020,12952980,12928428,12870173,12869555,12813037,12804586,12763760,12730295,12709788,12706378,12624133,12615681,12600718,12576507,12562845,12551894,12535741,12511593,12426219,12359250,12235128,12204794,12196520,12176027,12151852,12111371,12093886,12084722,11950847,11940086,11929608,11893753,11861672,11855831,11752403,11700048,10884428,10799318,10535983,10525055,10431238,10431237,10431236,10092505,9731541,9006906,8088782,7766993
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|ATP-binding cassette (ABC) transporter activity|NR|GO:0004009|GOA|7766993
GO: molecular function|ATP-binding cassette (ABC) transporter activity|NAS|GO:0004009|GOA|7766993
GO: molecular function|anion transporter activity|TAS|GO:0008509|GOA|9006906
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|10431236
GO: biological process|phagocytosis, engulfment|NR|GO:0006911|GOA|na
GO: molecular function|sterol transporter activity|TAS|GO:0015248|GOA|10431236
GO: biological process|transport|NR|GO:0006810|GOA|7766993,10431236
GO: biological process|transport|NAS|GO:0006810|GOA|7766993,10431236
>>20
LOCUSID: 20
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001606|45446739|na
NP: NP_001597|45446740
CDD: cd00267: ABC (ATP-binding cassette) transporter nucleotide-binding domain|5341|393|na|1.553540e+02
CDD: COG4152: ABC-type uncharacterized transport system, ATPase component [General function prediction only]|13428|406|na|1.604250e+02
PRODUCT: ATP-binding cassette, sub-family A, member 2 isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript and encodes the predominant isoform (a).
ASSEMBLY: AF178941,AF327657,AH010490,AL833967,BC008755,BC064542,BF983101,BI195329,BM314339,CD612070
NM: NM_212533|47078217|na
NP: NP_997698|47078218
PRODUCT: ATP-binding cassette, sub-family A, member 2 isoform b
TRANSVAR: Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is longer and has a distinct N-terminus compared to isoform a.
ASSEMBLY: AF327657,AH010490,AL833967,BC008755,BC064542,BF983101,BI195329,BM314339,BM921242,CD612070
CONTIG: NT_024000.15|29793214|na|652765|673819|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_001606|45446739|na
XP: NP_001597|45446740|na
ACCNUM: AF327658|13173188|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327659|13173189|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327660|13173190|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327661|13173191|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327662|13173192|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327663|13173193|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327664|13173194|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327665|13173195|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327666|13173196|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327667|13173197|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327668|13173198|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327669|13173199|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327670|13173200|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327671|13173201|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327672|13173202|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327673|13173203|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327674|13173204|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327675|13173205|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327676|13173206|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327677|13173207|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327678|13173208|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327679|13173209|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327680|13173210|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327681|13173211|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327682|13173212|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327683|13173213|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327684|13173214|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327685|13173215|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327686|13173216|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327687|13173217|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327688|13173218|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327689|13173219|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327690|13173220|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327691|13173221|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327692|13173222|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327693|13173223|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327694|13173224|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327695|13173225|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327696|13173226|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327697|13173227|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327698|13173228|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327699|13173229|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327700|13173230|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327701|13173231|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327702|13173232|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327703|13173233|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327704|13173234|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AF327705|13173235|na|na|na
TYPE: g
PROT: AAK14335|13173236|1
ACCNUM: AB028985|20521747|na|na|na
TYPE: m
PROT: BAA83014|20521748|2
ACCNUM: AF178941|9957466|na|na|na
TYPE: m
PROT: AAG09372|9957467|1
ACCNUM: AF327657|13173185|na|na|na
TYPE: m
PROT: AAK14334|13173186|1
ACCNUM: AL162060|7328110|na|na|na
TYPE: m
PROT: CAB82398|7328111|1
ACCNUM: AL833967|21739553|na|na|na
TYPE: m
ACCNUM: BC008755|14250598|na|na|na
TYPE: m
PROT: AAH08755|14250599|1
ACCNUM: BC029282|20379703|na|na|na
TYPE: m
ACCNUM: BC064542|40555859|na|na|na
TYPE: m
PROT: AAH64542|40555860|1
ACCNUM: BF983101|12385998|na|na|na
TYPE: m
ACCNUM: BI195329|14650349|na|na|na
TYPE: m
ACCNUM: BM314339|18048684|na|na|na
TYPE: m
ACCNUM: BM921242|19371621|na|na|na
TYPE: m
ACCNUM: CD612070|40260334|na|na|na
TYPE: m
ACCNUM: U18235|609355|na|na|na
TYPE: m
PROT: AAA84436|609356|1
ACCNUM: U18236|609357|na|na|na
TYPE: m
PROT: AAA84437|6478865|2
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q9BZC7|14916523|0
OFFICIAL_SYMBOL: ABCA2
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family A (ABC1), member 2
ALIAS_SYMBOL: ABC2
PREFERRED_PRODUCT: ATP-binding cassette, sub-family A, member 2 isoform a
PREFERRED_PRODUCT: ATP-binding cassette, sub-family A, member 2 isoform b
SUMMARY: Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene.
CHR: 9
STS: WI-20997|-|7335|na|na|epcr
STS: STS-R54078|-|38978|na|na|epcr
STS: RH71205|9|66879|na|na|epcr
STS: RH101989|9|96323|na|seq_map|epcr
COMP: 1214|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A20[id]+AND+gene[obj_type]&QSTR=abca2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=421202
UNIGENE: Hs.421202
OMIM: 600047
MAP: 9q34|HUGO|C|
MAPLINK: default_human_gene|ABCA2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=20
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=20[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:305295
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001606
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001606
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.155
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA1062
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
PMID: 15093135,12560508,12477932,12363033,11309290,11178988,10470851,8088782,7766993,1538749
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|ATP-binding cassette (ABC) transporter activity|IEA|GO:0004009|GOA|7766993,11178988
GO: molecular function|ATP-binding cassette (ABC) transporter activity|NAS|GO:0004009|GOA|7766993,11178988
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: cellular component|integral to membrane|NAS|GO:0016021|GOA|na
GO: biological process|lipid metabolism|NAS|GO:0006629|GOA|11178988
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: molecular function|nucleotide binding|IEA|GO:0000166|GOA|na
GO: biological process|transport|IEA|GO:0006810|GOA|7766993,11178988
GO: biological process|transport|NAS|GO:0006810|GOA|7766993,11178988
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
>>21
LOCUSID: 21
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001089|4501848|na
NP: NP_001080|4501849
CDD: COG1131: ABC-type multidrug transport system, ATPase component [Defense mechanisms]|10851|619|na|2.425760e+02
CDD: KOG0059: Lipid exporter ABCA1 and related proteins, ABC superfamily [Lipid transport and metabolism, General function prediction only]|17857|1541|na|5.978340e+02
PRODUCT: ATP-binding cassette, sub-family A member 3
ASSEMBLY: U78735
CONTIG: NT_037887.3|29810036|na|2265806|2330516|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_001089|4501848|na
XP: NP_001080|4501849|na
ACCNUM: AC005212|3287444|na|na|na
TYPE: g
ACCNUM: AC007162|4508161|na|na|na
TYPE: g
ACCNUM: AB070929|19698201|na|na|na
TYPE: m
PROT: BAB86781|19698202|1
ACCNUM: U78735|1699037|na|na|na
TYPE: m
PROT: AAC50967|1699038|1
ACCNUM: X97187|1514529|na|na|na
TYPE: m
PROT: CAA65825|1514530|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q99758|7387524|0
OFFICIAL_SYMBOL: ABCA3
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family A (ABC1), member 3
ALIAS_SYMBOL: ABC3
ALIAS_SYMBOL: ABC-C
ALIAS_SYMBOL: LBM180
ALIAS_SYMBOL: EST111653
PREFERRED_PRODUCT: ATP-binding cassette, sub-family A member 3
SUMMARY: Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.
CHR: 16
STS: SHGC-61174|16|83514|na|na|epcr
ALIAS_PROT: ABC transporter 3
ALIAS_PROT: ATP-binding cassette 3
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26630
UNIGENE: Hs.26630
OMIM: 601615
MAP: 16p13.3|HUGO|C|
MAPLINK: default_human_gene|ABCA3
PHENOTYPE: Surfactant deficiency, neonatal
PHENOTYPE_ID: 267450
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=21
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=21[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:3770735
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001089
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001089
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.155
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
PMID: 11940594,11718719,9027511,8706931
GO: molecular function|ATP binding|NR|GO:0005524|GOA|na
GO: molecular function|ATP-binding cassette (ABC) transporter activity|TAS|GO:0004009|GOA|9027511
GO: cellular component|integral to membrane|TAS|GO:0016021|GOA|9027511
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|9027511
GO: molecular function|nucleotide binding|IEA|GO:0000166|GOA|na
GO: biological process|response to drug|TAS|GO:0042493|GOA|8706931
GO: biological process|transport|TAS|GO:0006810|GOA|9027511
GO: molecular function|transporter activity|TAS|GO:0005215|GOA|9027511
>>22
LOCUSID: 22
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004299|42490748|na
NP: NP_004290|42490749
CDD: pfam00664: ABC transporter transmembrane region|25581|243|na|9.768770e+01
CDD: cd00267: ABC (ATP-binding cassette) transporter nucleotide-binding domain|5341|574|na|2.250760e+02
CDD: KOG0057: Mitochondrial Fe/S cluster exporter, ABC superfamily [Intracellular trafficking, secretion, and vesicular transport]|17855|1999|na|7.740340e+02
PRODUCT: ATP-binding cassette, sub-family B, member 7
ASSEMBLY: AF038950,BC006323,BG722908,BQ630948
CONTIG: NT_011669.14|37546327|na|12591106|12694095|-|X|reference
EVID: supported by alignment with mRNA
XM: NM_004299|42490748|na
XP: NP_004290|42490749|na
ACCNUM: AF241887|13374270|na|na|na
TYPE: g
PROT: AAK20173|13374271|1
ACCNUM: AF038950|3329369|na|na|na
TYPE: m
PROT: AAC39865|3329370|1
ACCNUM: AF078777|5702097|na|na|na
TYPE: m
PROT: AAD47141|5702098|1
ACCNUM: AF133659|4927189|na|na|na
TYPE: m
PROT: AAD33045|4927190|1
ACCNUM: AK001418|7022662|na|na|na
TYPE: m
ACCNUM: BC006323|39644745|na|na|na
TYPE: m
PROT: AAH06323|13623447|1
ACCNUM: BG722908|14002095|na|na|na
TYPE: m
ACCNUM: BQ630948|21682466|na|na|na
TYPE: m
ACCNUM: BT009918|32880178|na|na|na
TYPE: m
PROT: AAP88920|32880179|1
ACCNUM: BX537833|31873807|na|na|na
TYPE: m
PROT: CAD97847|31873808|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O75027|8928549|0
OFFICIAL_SYMBOL: ABCB7
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family B (MDR/TAP), member 7
ALIAS_SYMBOL: ABC7
ALIAS_SYMBOL: ASAT
ALIAS_SYMBOL: Atm1p
ALIAS_SYMBOL: EST140535
PREFERRED_PRODUCT: ATP-binding cassette, sub-family B, member 7
SUMMARY: Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol.  With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis.  Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.
CHR: X
STS: WI-11286|X|60847|na|seq_map|epcr
COMP: 3175|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A22[id]+AND+gene[obj_type]&QSTR=abcb7&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ATP-binding cassette 7
ALIAS_PROT: Anemia, sideroblastic, with spinocerebellar ataxia
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370480
UNIGENE: Hs.370480
OMIM: 300135
MAP: Xq12-q13|RefSeq|C|
MAPLINK: default_human_gene|ABCB7
PHENOTYPE: Anemia, sideroblastic, with ataxia
PHENOTYPE_ID: 301310
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=22
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=22[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:7016795
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9954649
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004299
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004299
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.152+OR+mono_001.section.179+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=300135
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=301310
DB_DESCR: PharmGKB: PA24389
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24389
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
PMID: 14702039,12477932,11042152,10196363,9883897,9653160,9621516,9143506,8894702
GO: molecular function|ATP binding|NR|GO:0005524|GOA|na
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|ATP-binding cassette (ABC) transporter activity|IEA|GO:0004009|GOA|9621516
GO: molecular function|ATP-binding cassette (ABC) transporter activity|TAS|GO:0004009|GOA|9621516
GO: molecular function|heme transporter activity|TAS|GO:0015232|GOA|9621516
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|mitochondrial inner membrane|TAS|GO:0005743|GOA|10196363
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: molecular function|nucleotide binding|IEA|GO:0000166|GOA|na
GO: biological process|transport|IEA|GO:0006810|GOA|9621516
GO: biological process|transport|TAS|GO:0006810|GOA|9621516
>>23
LOCUSID: 23
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001090|10947134|na
NP: NP_001081|10947135
CDD: pfam00005: ABC transporter|16577|240|na|9.651510e+01
CDD: COG1121: ABC-type Mn/Zn transport systems, ATPase component [Inorganic ion transport and metabolism]|10843|102|na|4.327400e+01
CDD: KOG0066: eIF2-interacting protein ABC50 (ABC superfamily) [Translation, ribosomal structure and biogenesis]|17864|2302|na|8.909830e+02
PRODUCT: ATP-binding cassette, sub-family F, member 1
ASSEMBLY: AF027302
CONTIG: NT_007592.13|29804415|na|21395599|21415508|+|6|reference
EVID: supported by alignment with mRNA
XM: NM_001090|10947134|na
XP: NP_001081|10947135|na
ACCNUM: AB023052|5672607|na|na|na
TYPE: g
ACCNUM: AC006138|3970958|na|na|na
TYPE: g
ACCNUM: AF027302|2522533|na|na|na
TYPE: m
PROT: AAC70891|2522534|1
ACCNUM: AL832430|21732994|na|na|na
TYPE: m
PROT: CAH10648|50949460|1
ACCNUM: BC016772|16876998|na|na|na
TYPE: m
ACCNUM: BC034488|34783469|na|na|na
TYPE: m
PROT: AAH34488|21759807|1
OFFICIAL_SYMBOL: ABCF1
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family F (GCN20), member 1
ALIAS_SYMBOL: ABC27
ALIAS_SYMBOL: ABC50
ALIAS_SYMBOL: EST123147
PREFERRED_PRODUCT: ATP-binding cassette, sub-family F, member 1
SUMMARY: Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process.
CHR: 6
STS: G62097|6|139116|na|seq_map|epcr
COMP: 849|6|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=6&MAPS=genes-r-org/rat-chr/human%3A6,genes-r-org/mouse-chr/human%3A6,genes-r-org/human-chr6&query=e%3A23[id]+AND+gene[obj_type]&QSTR=abcf1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ATP-binding cassette 50
ALIAS_PROT: ATP-binding cassette 50 (TNF-alpha stimulated)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9573
UNIGENE: Hs.9573
OMIM: 603429
MAP: 6p21.33|RefSeq|C|
MAPLINK: default_human_gene|ABCF1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=23
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=23[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9836817
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001090
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001090
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.211+OR+mono_001.table.145+OR+mono_001.table.155
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
PMID: 12477932,10931828,10581359,9790762
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|9790762
GO: molecular function|ATP binding|TAS|GO:0005524|GOA|9790762
GO: molecular function|ATP-binding cassette (ABC) transporter activity|IEA|GO:0004009|GOA|9790762
GO: molecular function|ATP-binding cassette (ABC) transporter activity|TAS|GO:0004009|GOA|9790762
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|9790762
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: molecular function|nucleotide binding|IEA|GO:0000166|GOA|na
GO: biological process|protein biosynthesis|TAS|GO:0006412|GOA|9790762
GO: molecular function|translation factor activity, nucleic acid binding|TAS|GO:0008135|GOA|9790762
GO: biological process|transport|IEA|GO:0006810|GOA|na
>>24
LOCUSID: 24
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000350|4557875|na
NP: NP_000341|4557876
CDD: COG1131: ABC-type multidrug transport system, ATPase component [Defense mechanisms]|10851|590|na|2.314060e+02
CDD: KOG0059: Lipid exporter ABCA1 and related proteins, ABC superfamily [Lipid transport and metabolism, General function prediction only]|17857|220|na|8.898530e+01
PRODUCT: ATP-binding cassette, sub-family A member 4
ASSEMBLY: AF000148,U88667
CONTIG: NT_028050.13|37546771|na|2656215|2784501|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_000350|4557875|na
XP: NP_000341|4557876|na
ACCNUM: Y15635|2969965|na|na|na
TYPE: g
PROT: CAA75729|2969966|1
ACCNUM: AF000148|3243081|na|na|na
TYPE: m
PROT: AAC23915|3243082|1
ACCNUM: AF001945|2959642|na|na|na
TYPE: m
PROT: AAC05632|2959643|1
ACCNUM: U88667|1888526|na|na|na
TYPE: m
PROT: AAC51144|1888527|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P78363|6707663|0
OFFICIAL_SYMBOL: ABCA4
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family A (ABC1), member 4
ALIAS_SYMBOL: FFM
ALIAS_SYMBOL: RMP
ALIAS_SYMBOL: ABCR
ALIAS_SYMBOL: RP19
ALIAS_SYMBOL: STGD
ALIAS_SYMBOL: ABC10
ALIAS_SYMBOL: STGD1
PREFERRED_PRODUCT: ATP-binding cassette, sub-family A member 4
SUMMARY: Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2.
CHR: 1
COMP: 298|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A24[id]+AND+gene[obj_type]&QSTR=abca4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: rim protein
ALIAS_PROT: ATP binding cassette transporter
ALIAS_PROT: ATP-binding transporter, retina-specific
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=416707
UNIGENE: Hs.416707
OMIM: 601691
MAP: 1p22.1-p21|RefSeq|C|
MAPLINK: default_human_gene|ABCA4
PHENOTYPE: Cone-rod dystrophy 3
PHENOTYPE_ID: 601691
PHENOTYPE: Fundus flavimaculatus
PHENOTYPE_ID: 248200
PHENOTYPE: Macular dystrophy, age-related, 2
PHENOTYPE_ID: 153800
PHENOTYPE: Retinitis pigmentosa-19
PHENOTYPE_ID: 601718
PHENOTYPE: Stargardt disease-1
PHENOTYPE_ID: 248200
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=24
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=24[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:370748
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/370748.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000350
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000350
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.161+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=601691
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
DB_DESCR: Retina International ABCA4 Mutation Database
DB_LINK: http://www.retina-international.com/sci-news/abcrmut.htm
PMID: 15017103,12888572,12824224,12796258,12754711,12592048,12515255,12442277,12202497,11973624,11919200,11726554,11444963,10767284,9503029,9490294,9425888,9288113,9202155,9070931,9054934
GO: molecular function|ATP binding|NR|GO:0005524|GOA|na
GO: molecular function|ATP-binding cassette (ABC) transporter activity|TAS|GO:0004009|GOA|9054934
GO: cellular component|integral to plasma membrane|IEA|GO:0005887|GOA|na
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|9054934
GO: biological process|phototransduction, visible light|TAS|GO:0007603|GOA|9202155
GO: biological process|transport|TAS|GO:0006810|GOA|9054934
GO: molecular function|transporter activity|TAS|GO:0005215|GOA|9054934
GO: biological process|visual perception|TAS|GO:0007601|GOA|9425888
>>25
LOCUSID: 25
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005157|6382056|na
NP: NP_005148|4885045
CDD: pfam00018: SH3 domain|22871|160|na|6.563050e+01
CDD: cd00173: Src homology 2 domains|16538|199|na|8.078010e+01
CDD: cd00192: Tyrosine kinase, catalytic domain|5392|957|na|3.725960e+02
CDD: KOG4278: Protein tyrosine kinase [Signal transduction mechanisms]|22054|3861|na|1.491540e+03
PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 1 isoform a
TRANSVAR: Transcript Variant: Transcript variant a includes exon 1a, but not exon 1b, resulting in a different N-terminus. This variant is localized in the nucleus.
ASSEMBLY: M14752,X16416
NM: NM_007313|6382057|na
NP: NP_009297|6382058
CDD: pfam00018: SH3 domain|22871|161|na|6.601570e+01
CDD: cd00173: Src homology 2 domains|16538|199|na|8.078010e+01
CDD: cd00192: Tyrosine kinase, catalytic domain|5392|959|na|3.733660e+02
CDD: KOG4278: Protein tyrosine kinase [Signal transduction mechanisms]|22054|3851|na|1.487690e+03
PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 1 isoform b
TRANSVAR: Transcript Variant:  Transcript variant b includes exon 1b, but not exon 1a, resulting in a different N-terminus. This variant contains an N-terminal glycine which could be myristylated and is thus postulated to be directed to the plasma membrane.
ASSEMBLY: M14752,M14753,X16416
CONTIG: NT_035014.3|29732427|na|366647|540000|+|9|reference
EVID: supported by alignment with mRNA
XM: NM_005157|6382056|na
XP: NP_005148|4885045|na
EVID: supported by alignment with mRNA
XM: NM_007313|6382057|na
XP: NP_009297|6382058|na
ACCNUM: K00009|179745|na|na|na
TYPE: g
PROT: AAA51895|179746|1
ACCNUM: M13099|179748|na|na|na
TYPE: g
PROT: AAA51896|179750|1
ACCNUM: S69223|545244|na|na|na
TYPE: g
PROT: AAD14034|4261734|1
ACCNUM: U07563|514264|na|na|na
TYPE: g
PROT: AAB60393|514268|1
PROT: AAB60394|514267|1
ACCNUM: M14752|177942|na|na|na
TYPE: m
PROT: AAA51561|177943|1
ACCNUM: M14753|177945|na|na|na
TYPE: m
PROT: AAA51562|177946|1
ACCNUM: M30833|177951|na|na|na
TYPE: m
PROT: AAA88012|553164|1
ACCNUM: X16416|28236|na|na|na
TYPE: m
PROT: CAA34438|28237|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P00519|125135|0
OFFICIAL_SYMBOL: ABL1
OFFICIAL_GENE_NAME: v-abl Abelson murine leukemia viral oncogene homolog 1
ALIAS_SYMBOL: ABL
ALIAS_SYMBOL: JTK7
ALIAS_SYMBOL: p150
ALIAS_SYMBOL: c-ABL
ALIAS_SYMBOL: v-abl
PREFERRED_PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 1 isoform a
PREFERRED_PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 1 isoform b
SUMMARY: Summary:  The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response.  Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene.  The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia.  The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1.  The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11.
CHR: 9
STS: G29321|9|26708|na|seq_map|epcr
STS: RH69429|9|34678|na|seq_map|epcr
STS: RH80013|9|84753|na|seq_map|epcr
COMP: 3783|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A25[id]+AND+gene[obj_type]&QSTR=abl1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: proto-oncogene tyrosine-protein kinase ABL1
ALIAS_PROT: Abelson murine leukemia viral (v-abl) oncogene homolog 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446504
UNIGENE: Hs.446504
OMIM: 189980
ECNUM: 2.7.1.112
MAP: 9q34.1|HUGO|C|
MAPLINK: default_human_gene|ABL1
PHENOTYPE: Leukemia, Philadelphia chromosome-positive, resistant to imatinib
PHENOTYPE_ID: 189980
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=25
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=25[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119640
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005157
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005157
DB_DESCR: Genes and Disease
DB_LINK: http://www.ncbi.nlm.nih.gov/disease/cml.html
DB_DESCR: KEGG pathway: Cell cycle
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04110+25
DB_DESCR: PharmGKB: PA24413
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24413
PMID: 14966468,14670960,14581377,14534537,14527680,12952226,12950161,12944467,12928501,12921956,12890867,12824179,12810679,12781448,12777400,12777393,12764153,12672821,12665579,12654250,12650908,12623848,12560071,12556557,12525554,12505259,12408765,12393636,12384576,12374288,12220663,12149456,12144533,12138893,12130516,12024016,11971963,11840343,11780146,11708318,10391249,8453102,8242749,7665185,7063411,6319012,6316147,6302194,6281890,6191223,3313010,3023859,3021337,2989703,2989692,2825022,2687768,2678002,2193202,2163052,1868241,1857987,1538749
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|DNA binding|NR|GO:0003677|GOA|na
GO: biological process|DNA damage response, signal transduction resulting in induction of apoptosis|TAS|GO:0008630|GOA|10391249
GO: biological process|S-phase-specific transcription in mitotic cell cycle|TAS|GO:0000115|GOA|8242749
GO: biological process|cell growth and/or maintenance|IEA|GO:0008151|GOA|na
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: biological process|mismatch repair|TAS|GO:0006298|GOA|10391249
GO: cellular component|nucleus|NR|GO:0005634|GOA|na
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|protein-tyrosine kinase activity|TAS|GO:0004713|GOA|10391249
GO: biological process|regulation of cell cycle|TAS|GO:0000074|GOA|8242749
GO: biological process|regulation of transcription, DNA-dependent|TAS|GO:0006355|GOA|8242749
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>26
LOCUSID: 26
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001091|4501850|na
NP: NP_001082|4501851
CDD: KOG1186: Copper amine oxidase [Secondary metabolites biosynthesis, transport and catabolism]|18975|1869|na|7.239990e+02
PRODUCT: amiloride binding protein 1 precursor
ASSEMBLY: X78212
CONTIG: NT_007914.13|37538573|na|11125608|11134393|+|7|reference
EVID: supported by alignment with mRNA
XM: NM_001091|4501850|na
XP: NP_001082|4501851|na
CONTIG: NT_079596.1|37539429|na|49911432|49920217|+|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001091|4501850|na
XP: NP_001082|4501851|na
ACCNUM: X78212|463242|na|na|na
TYPE: g
PROT: CAA55046|463243|1
ACCNUM: AK092514|21751128|na|na|na
TYPE: m
ACCNUM: BC014093|33878443|na|na|na
TYPE: m
PROT: AAH14093|15559451|1
ACCNUM: BX648159|34367318|na|na|na
TYPE: m
ACCNUM: M55602|387655|na|na|na
TYPE: m
PROT: AAA58358|177960|1
ACCNUM: U11862|533535|na|na|na
TYPE: m
PROT: AAC50270|533536|1
ACCNUM: U11863|533537|na|na|na
TYPE: m
PROT: AAB60381|533538|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P19801|543746|0
OFFICIAL_SYMBOL: ABP1
OFFICIAL_GENE_NAME: amiloride binding protein 1 (amine oxidase (copper-containing))
ALIAS_SYMBOL: DAO
ALIAS_SYMBOL: AOC1
PREFERRED_PRODUCT: amiloride binding protein 1 precursor
SUMMARY: Summary: This gene encodes a membrane glycoprotein that binds amiloride, a diuretic that acts by closing epithelial sodium ion channels. Experimental evidence indicates, however, that the formation of an amiloride sensitive, sodium channel requires complex formation with additional proteins. Although an association was proposed between this gene and cystic fibrosis, a disorder involving sodium and water imbalance in the lungs, genetic evidence showed that it was not involved in producing that disorder.
CHR: 7
STS: RH71199|7|8014|na|seq_map|epcr
STS: D7S2745|7|19557|D7S2745|seq_map|epcr
STS: ABP1|7|32801|ABP1|seq_map|epcr
COMP: 31014|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A26[id]+AND+gene[obj_type]&QSTR=abp1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: diamine oxidase
ALIAS_PROT: Amiloride-binding protein-1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437420
UNIGENE: Hs.437420
OMIM: 104610
ECNUM: 1.4.3.6
MAP: 7q34-q36|RefSeq|C|
MAPLINK: default_human_gene|ABP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=26
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=26[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127105
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001091
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001091
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+26
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+26
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+26
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+26
DB_DESCR: KEGG pathway: Alkaloid biosynthesis II
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00960+26
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+26
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+26
DB_DESCR: KEGG pathway: Glycine, serine and threonine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00260+26
PMID: 14755492,14715500,14702039,12755416,12477932,11603849,8595053,8182053,8144586,2217167,1356107
GO: molecular function|amine oxidase activity|TAS|GO:0008131|GOA|8144586
GO: molecular function|copper ion binding|IEA|GO:0005507|GOA|na
GO: molecular function|drug binding|NR|GO:0008144|GOA|na
GO: molecular function|heparin binding|IEA|GO:0008201|GOA|na
GO: biological process|metabolism|NR|GO:0008152|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: cellular component|peroxisome|NR|GO:0005777|GOA|1356107
>>27
LOCUSID: 27
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005158|6382059|na
NP: NP_005149|6382060
CDD: pfam00018: SH3 domain|22871|160|na|6.563050e+01
CDD: cd00173: Src homology 2 domains|16538|274|na|1.096700e+02
CDD: cd00192: Tyrosine kinase, catalytic domain|5392|962|na|3.745220e+02
CDD: KOG4278: Protein tyrosine kinase [Signal transduction mechanisms]|22054|3829|na|1.479210e+03
PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 2 isoform a
TRANSVAR: Transcript Variant:  Transcript variant a includes the alternate exon IA, but not exon IB and encodes a distinct N-terminus.
ASSEMBLY: M35296
NM: NM_007314|6382061|na
NP: NP_009298|6382062
CDD: pfam00018: SH3 domain|22871|160|na|6.563050e+01
CDD: cd00173: Src homology 2 domains|16538|274|na|1.096700e+02
CDD: cd00192: Tyrosine kinase, catalytic domain|5392|964|na|3.752920e+02
CDD: KOG4278: Protein tyrosine kinase [Signal transduction mechanisms]|22054|3739|na|1.444540e+03
PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 2 isoform b
TRANSVAR: Transcript Variant:  Transcript variant a includes the alternate exon IB, but not exon IA and encodes a distinct N-terminus.
ASSEMBLY: M35296
CONTIG: NT_004487.16|37547538|na|8125249|8247233|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_005158|6382059|na
XP: NP_005149|6382060|na
EVID: supported by alignment with mRNA
XM: NM_007314|6382061|na
XP: NP_009298|6382062|na
ACCNUM: BC065912|42406386|na|na|na
TYPE: m
PROT: AAH65912|42406387|1
ACCNUM: BX538317|31874803|na|na|na
TYPE: m
PROT: CAD98092|31874804|1
ACCNUM: M35296|178992|na|na|na
TYPE: m
PROT: AAA35553|178993|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P42684|1168268|0
OFFICIAL_SYMBOL: ABL2
OFFICIAL_GENE_NAME: v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)
ALIAS_SYMBOL: ARG
ALIAS_SYMBOL: ABLL
PREFERRED_PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 2 isoform a
PREFERRED_PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 2 isoform b
SUMMARY: Summary:  ABL2 is a cytoplasmic tyrosine kinase which is closely related to but distinct from ABL1.  The similarity of the proteins includes the tyrosine kinase domains and extends amino-terminal to include the SH2 and SH3 domains.  ABL2 is expressed in both normal and tumor cells.  The ABL2 gene product is expressed as two variants bearing different amino termini, both approximately 12-kb in length.
CHR: 1
STS: RH69130|1|3401|na|seq_map|epcr
STS: G20336|-|5419|na|na|epcr
STS: SGC38261|-|36444|na|na|epcr
STS: RH66836|1|44261|na|seq_map|epcr
STS: ABL2_197|-|276956|na|na|epcr
COMP: 5278|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A27[id]+AND+gene[obj_type]&QSTR=abl2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Abelson-related gene
ALIAS_PROT: Abelson murine leukemia viral (v-abl) oncogene homolog 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159472
UNIGENE: Hs.159472
OMIM: 164690
ECNUM: 2.7.1.112
MAP: 1q24-q25|HUGO|C|
MAPLINK: default_human_gene|ABL2
PHENOTYPE: Leukemia, acute myeloid, with eosinophilia
PHENOTYPE_ID: 164690
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=27
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=27[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119641
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007314
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007314
PMID: 12950161,12777400,12477932,12374288,12220663,3787260,2198571
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|cell growth and/or maintenance|IEA|GO:0008151|GOA|na
GO: cellular component|cytoplasm|NR|GO:0005737|GOA|na
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|protein-tyrosine kinase activity|IEA|GO:0004713|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>28
LOCUSID: 28
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_020469|9994164|na
NP: NP_065202|9994165
CDD: pfam03414: Glycosyltransferase family 6|8604|1297|na|5.037210e+02
PRODUCT: ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ASSEMBLY: AF134413,X84746
CONTIG: NT_035014.3|29732427|na|2907993|2927545|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_020469|9994164|na
XP: NP_065202|9994165|na
ACCNUM: AC000397|2133896|na|na|na
TYPE: g
ACCNUM: AF016622|2623548|na|na|na
TYPE: g
PROT: AAB86462|2623549|1
ACCNUM: AF134420|4590462|na|na|na
TYPE: g
PROT: AAD26576|4590464|1
ACCNUM: AF134422|4590466|na|na|na
TYPE: g
PROT: AAD26577|4590468|1
ACCNUM: AF134430|4590482|na|na|na
TYPE: g
PROT: AAD26581|4590484|1
ACCNUM: AF170888|5802358|na|na|na
TYPE: g
PROT: AAD51648|5802359|1
ACCNUM: U22302|6007861|na|na|na
TYPE: g
PROT: AAC50121|6013470|3
ACCNUM: X84746|732765|na|na|na
TYPE: g
PROT: CAA59233|992596|1
ACCNUM: AF134412|4590449|na|na|na
TYPE: m
PROT: AAD26572|4590450|1
ACCNUM: AF134413|4590451|na|na|na
TYPE: m
PROT: AAD26573|4590452|1
ACCNUM: AF134414|4590453|na|na|na
TYPE: m
PROT: AAD26574|4590454|1
ACCNUM: AF134415|4590455|na|na|na
TYPE: m
ACCNUM: AF134416|4590456|na|na|na
TYPE: m
ACCNUM: BC069595|47479681|na|na|na
TYPE: m
PROT: AAH69595|47479682|1
ACCNUM: BC069814|47481203|na|na|na
TYPE: m
PROT: AAH69814|47481204|1
ACCNUM: J05175|340077|na|na|na
TYPE: m
PROT: AAA36792|340078|1
ACCNUM: U15197|595854|na|na|na
TYPE: m
PROT: AAD14781|4262673|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P16442|114949|0
OFFICIAL_SYMBOL: ABO
OFFICIAL_GENE_NAME: ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
PREFERRED_PRODUCT: ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
CHR: 9
ALIAS_PROT: GTB
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113271
UNIGENE: Hs.113271
OMIM: 110300
ECNUM: 2.4.1.37
ECNUM: 2.4.1.40
MAP: 9q34.1-q34.2|HUGO|C|
MAPLINK: default_human_gene|ABO
PHENOTYPE: Blood group, ABO system
PHENOTYPE_ID: 110300
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=28
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=28[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118956
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020469
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020469
DB_DESCR: KEGG pathway: Blood group glycolipid biosynthesis-lact series
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00601+28
DB_DESCR: KEGG pathway: Blood group glycolipid biosynthesis-lactoseries
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00601+28
DB_DESCR: KEGG pathway: Blood group glycolipid biosynthesis - lact series
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00601+28
DB_DESCR: KEGG pathway: Blood group glycolipid biosynthesis-neolact series
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00602+28
DB_DESCR: KEGG pathway: Blood group glycolipid biosynthesis-neolactoseries
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00602+28
DB_DESCR: KEGG pathway: Blood group glycolipid biosynthesis - neolact series
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00602+28
DB_DESCR: Blood Group Antigen Gene Mutation Database
DB_LINK: http://www.bioc.aecom.yu.edu/bgmut/abo.htm
PMID: 14750174,14617382,12529355,12477932,12151392,11856466,8873422,7779106,7772867,7598760,2104828,1520322
GO: cellular component|Golgi apparatus|IEA|GO:0005794|GOA|na
GO: biological process|carbohydrate metabolism|IEA|GO:0005975|GOA|na
GO: cellular component|extracellular|NAS|GO:0005576|GOA|na
GO: molecular function|fucosylgalactoside 3-alpha-galactosyltransferase activity|NAS|GO:0004381|GOA|na
GO: molecular function|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|NAS|GO:0004380|GOA|na
GO: cellular component|integral to Golgi membrane|NAS|GO:0030173|GOA|na
GO: molecular function|manganese ion binding|IEA|GO:0030145|GOA|na
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: biological process|protein amino acid glycosylation|NAS|GO:0006486|GOA|na
GO: molecular function|transferase activity|TAS|GO:0016740|GOA|1520322
GO: molecular function|transferase activity, transferring hexosyl groups|IEA|GO:0016758|GOA|na
>>29
LOCUSID: 29
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001092|38679953|na
NP: NP_001083|38679954
CDD: pfam00621: RhoGEF domain|4277|391|na|1.546430e+02
CDD: cd00159: GTPase-activator protein for Rho-like GTPases|5330|467|na|1.839670e+02
CDD: smart00239: Protein kinase C conserved region 2 (CalB)|22718|112|na|4.743620e+01
CDD: KOG4269: Rac GTPase-activating protein BCR/ABR [Signal transduction mechanisms]|22045|2879|na|1.113250e+03
PRODUCT: active breakpoint cluster region-related  protein isoform b
TRANSVAR: Transcript Variant: This variant (2) uses an alternate segment in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus when compared to isoform a.
ASSEMBLY: AK124547,AK126882,BC036807,BM827672,CB153196,CF135918,U01147
NM: NM_021962|38679956|na
NP: NP_068781|38679957
CDD: pfam00621: RhoGEF domain|4277|395|na|1.561840e+02
CDD: cd00159: GTPase-activator protein for Rho-like GTPases|5330|471|na|1.855070e+02
CDD: smart00239: Protein kinase C conserved region 2 (CalB)|22718|114|na|4.820660e+01
CDD: KOG4269: Rac GTPase-activating protein BCR/ABR [Signal transduction mechanisms]|22045|3036|na|1.173720e+03
PRODUCT: active breakpoint cluster region-related  protein isoform a
TRANSVAR: Transcript Variant: This variant (1) is the longer transcript and it encodes the longer isoform (a).
ASSEMBLY: AI763107,AK124547,AK126882,BC036807,CB153196,CF135918,U01147
CONTIG: NT_035414.4|29799518|na|510133|686505|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_001092|38679953|na
XP: NP_001083|38679954|na
EVID: supported by alignment with mRNA
XM: NM_021962|38679956|na
XP: NP_068781|38679957|na
ACCNUM: L19704|388302|na|na|na
TYPE: g
PROT: AAC37519|388303|1
ACCNUM: L19705|388304|na|na|na
TYPE: g
PROT: AAC37518|388305|1
ACCNUM: AI763107|5178774|na|na|na
TYPE: m
ACCNUM: AK124547|34530358|na|na|na
TYPE: m
ACCNUM: AK126882|34533547|na|na|na
TYPE: m
PROT: BAC86734|34533548|1
ACCNUM: BC036807|22477292|na|na|na
TYPE: m
ACCNUM: BM827672|19184081|na|na|na
TYPE: m
ACCNUM: CB153196|28138188|na|na|na
TYPE: m
ACCNUM: CF135918|33251362|na|na|na
TYPE: m
ACCNUM: U01147|393094|na|na|na
TYPE: m
PROT: AAC50063|393095|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q12979|5915668|0
OFFICIAL_SYMBOL: ABR
OFFICIAL_GENE_NAME: active BCR-related gene
ALIAS_SYMBOL: MDB
PREFERRED_PRODUCT: active breakpoint cluster region-related  protein isoform a
PREFERRED_PRODUCT: active breakpoint cluster region-related  protein isoform b
SUMMARY: Summary: This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis, suggesting that Rho-related GTPases help coordinate motor skills and balance. Alternatively spliced transcript variants that encode different isoforms have been reported for this gene.
CHR: 17
STS: RH46166|-|32541|na|na|epcr
STS: G11811|-|43457|na|na|epcr
STS: WI-19743|17|59928|na|seq_map|epcr
STS: D17S1529|-|80866|D17S1529|na|epcr
STS: SHGC-84866|-|104767|na|na|epcr
COMP: 11081|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A29[id]+AND+gene[obj_type]&QSTR=abr&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434004
UNIGENE: Hs.434004
OMIM: 600365
MAP: 17p13.3|HUGO|C|
MAPLINK: default_human_gene|ABR
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=29
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=29[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119642
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021962
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021962
PMID: 14702039,11921339,8889548,8349582,8262969,7829075,7479768,2587217
GO: molecular function|GTPase activator activity|TAS|GO:0005096|GOA|8262969
GO: molecular function|guanyl-nucleotide exchange factor activity|IEA|GO:0005085|GOA|na
GO: biological process|small GTPase mediated signal transduction|TAS|GO:0007264|GOA|8262969
>>30
LOCUSID: 30
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001607|6598316|na
NP: NP_001598|4501853
CDD: KOG1389: 3-oxoacyl CoA thiolase [Lipid transport and metabolism]|19178|1615|na|6.262460e+02
PRODUCT: acetyl-Coenzyme A acyltransferase 1
ASSEMBLY: X14813,X65140
CONTIG: NT_022517.16|37550163|na|38089832|38104240|-|3|reference
EVID: supported by alignment with mRNA
XM: NM_001607|6598316|na
XP: NP_001598|4501853|na
ACCNUM: X65140|28253|na|na|na
TYPE: g
PROT: CAA46270|825617|1
ACCNUM: X65148|28256|na|na|na
TYPE: g
PROT: CAA46271|1340140|1
ACCNUM: AF035295|2661050|na|na|na
TYPE: m
PROT: AAB88181|2661051|1
ACCNUM: AK025138|10437596|na|na|na
TYPE: m
ACCNUM: AK127051|34533786|na|na|na
TYPE: m
ACCNUM: BC000635|33875670|na|na|na
TYPE: m
PROT: AAH00635|12653701|1
ACCNUM: BC011977|15080464|na|na|na
TYPE: m
PROT: AAH11977|15080465|1
ACCNUM: BC014474|15680238|na|na|na
TYPE: m
PROT: AAH14474|15680239|1
ACCNUM: BC025780|19344002|na|na|na
TYPE: m
ACCNUM: BC039837|25123293|na|na|na
TYPE: m
ACCNUM: X12966|23873|na|na|na
TYPE: m
PROT: CAA31412|23874|1
ACCNUM: X14813|23875|na|na|na
TYPE: m
PROT: CAA32918|23876|1
ACCNUM: X51460|22796315|na|na|na
TYPE: m
PROT: CAA35825|22796316|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P09110|135751|0
OFFICIAL_SYMBOL: ACAA1
OFFICIAL_GENE_NAME: acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase)
ALIAS_SYMBOL: ACAA
ALIAS_SYMBOL: THIO
ALIAS_SYMBOL: PTHIO
PREFERRED_PRODUCT: acetyl-Coenzyme A acyltransferase 1
SUMMARY: Summary:  Acetyl-Coenzyme A acyltransferase (ACAA1) is an enzyme operative in the beta-oxidation system of the peroxisomes.  Deficiency of this enzyme leads to pseudo-Zellweger syndrome
CHR: 3
STS: D3S3932|3|8727|D3S3932|seq_map|epcr
STS: STS-X14813|3|38113|na|seq_map|epcr
STS: D3S4185|3|41025|D3S4185|seq_map|epcr
STS: G54049|3|109431|na|seq_map|epcr
STS: GDB:181192|3|155166|na|seq_map|epcr
COMP: 1215|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A30[id]+AND+gene[obj_type]&QSTR=acaa1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: peroxisomal 3-oxoacyl-Coenzyme A thiolase
ALIAS_PROT: Acetyl-Coenzyme A acyltransferase (peroxisomal 3-oxoacyl-Coenzyme A
ALIAS_PROT: acetyl-Coenzyme A acyltransferase (peroxisomal 3-oxoacyl-Coenzyme A thiolase)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166160
UNIGENE: Hs.166160
OMIM: 604054
ECNUM: 2.3.1.16
MAP: 3p23-p22|HUGO|C|
MAPLINK: default_human_gene|ACAA1
PHENOTYPE: Pseudo-Zellweger syndrome
PHENOTYPE_ID: 261515
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=30
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=30[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119643
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001607
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001607
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+30
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+30
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+30
DB_DESCR: KEGG pathway: Fatty acid biosynthesis (path 2)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00062+30
DB_DESCR: KEGG pathway: Benzoate degradation via hydroxylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00362+30
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+30
DB_DESCR: PharmGKB: PA24419
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24419
PMID: 12477932,9110174,8619474,7750978,3194209,2882519,2726492,2630187,1679347
GO: molecular function|acetyl-CoA C-acyltransferase activity|IEA|GO:0003988|GOA|na
GO: molecular function|acyltransferase activity|IEA|GO:0008415|GOA|na
GO: biological process|energy pathways|TAS|GO:0006091|GOA|1679347
GO: biological process|fatty acid metabolism|IEA|GO:0006631|GOA|na
GO: cellular component|peroxisome|NR|GO:0005777|GOA|1679347
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>31
LOCUSID: 31
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000664|38679979|na
NP: NP_000655|38679980
PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 5
TRANSVAR: Transcript Variant: This variant (6) has an additional exon in the 5' coding region, which includes a stop codon, as compared to variant 1. The resulting isoform (5) is equivalent to the N-terminal sequence of isoform 1.
ASSEMBLY: AY315626,AY315627,BC031485,BC041598,BF154865,CF454424,U19822
NM: NM_198834|38679959|na
NP: NP_942131|38679960
CDD: pfam00364: Biotin-requiring enzyme|15173|167|na|6.832140e+01
CDD: COG0439: Biotin carboxylase [Lipid metabolism]|10313|1035|na|4.027090e+02
CDD: KOG0368: Acetyl-CoA carboxylase [Lipid transport and metabolism]|18164|8478|na|3.269850e+03
PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longest isoform (1).
ASSEMBLY: AY315625,AY315627,BC031485,BC041598,BF154865,CF454424,U19822
NM: NM_198835|38679963|na
NP: NP_942132|38679964
PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 6
TRANSVAR: Transcript Variant: This variant (7) has an alternate 5' UTR sequence and an additional exon in the coding region, as compared to variant 1. The resulting isoform (6) is the shortest of the isoforms, and it has shorter N- and C-termini, as compared to isoform 1.
ASSEMBLY: AY315622,AY315627,BC031485,BC041598,BF154865,U19822
NM: NM_198836|38679966|na
NP: NP_942133|38679967
CDD: pfam00364: Biotin-requiring enzyme|15173|166|na|6.793620e+01
CDD: COG0439: Biotin carboxylase [Lipid metabolism]|10313|1035|na|4.027090e+02
CDD: KOG0368: Acetyl-CoA carboxylase [Lipid transport and metabolism]|18164|8476|na|3.269080e+03
PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 2
TRANSVAR: Transcript Variant: This variant (3) has an alternate 5' UTR exon, and uses a downstream start codon, as compared to variant (1). The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
ASSEMBLY: AY315621,AY315625,AY315627,BC031485,BC041598,BF154865,U19822
NM: NM_198837|38679970|na
NP: NP_942134|38679971
CDD: pfam00364: Biotin-requiring enzyme|15173|167|na|6.832140e+01
CDD: COG0439: Biotin carboxylase [Lipid metabolism]|10313|1034|na|4.023240e+02
CDD: KOG0368: Acetyl-CoA carboxylase [Lipid transport and metabolism]|18164|8467|na|3.265610e+03
PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 3
TRANSVAR: Transcript Variant: This variant (4) has a shorter and alternate 5' sequence, as compared to variant 1. The resulting isoform (3) has a distinct and shorter N-terminus, as compared to isoform 1.
ASSEMBLY: AY315620,AY315627,BC031485,BC041598,U19822
NM: NM_198838|38679973|na
NP: NP_942135|38679974
CDD: pfam00364: Biotin-requiring enzyme|15173|167|na|6.832140e+01
CDD: COG0439: Biotin carboxylase [Lipid metabolism]|10313|1034|na|4.023240e+02
CDD: KOG0368: Acetyl-CoA carboxylase [Lipid transport and metabolism]|18164|8471|na|3.267150e+03
PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 4
TRANSVAR: Transcript Variant: This variant (5) has a shorter and alternate 5' sequence and uses a downstream start codon, as compared to variant 1. The resulting isoform (4) has a shorter N-terminus, as compared to isoform 1.
ASSEMBLY: AY315619,AY315627,BC031485,BC041598,U19822
NM: NM_198839|38679976|na
NP: NP_942136|38679977
CDD: pfam00364: Biotin-requiring enzyme|15173|166|na|6.793620e+01
CDD: COG0439: Biotin carboxylase [Lipid metabolism]|10313|1035|na|4.027090e+02
CDD: KOG0368: Acetyl-CoA carboxylase [Lipid transport and metabolism]|18164|8476|na|3.269080e+03
PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 2
TRANSVAR: Transcript Variant: This variant (2) is the longest transcript, which has several additional exons in the 5' region, as compared to variant 1. It uses a downstream start codon and the resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
ASSEMBLY: AY315623,AY315627,BC031485,BC041598,BF154865,CF454424,U19822
CONTIG: NT_078100.1|29799562|na|716079|1041054|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_000664|38679979|na
XP: NP_000655|38679980|na
EVID: supported by alignment with mRNA
XM: NM_198834|38679959|na
XP: NP_942131|38679960|na
EVID: supported by alignment with mRNA
XM: NM_198835|38679963|na
XP: NP_942132|38679964|na
EVID: supported by alignment with mRNA
XM: NM_198836|38679966|na
XP: NP_942133|38679967|na
EVID: supported by alignment with mRNA
XM: NM_198837|38679970|na
XP: NP_942134|38679971|na
EVID: supported by alignment with mRNA
XM: NM_198838|38679973|na
XP: NP_942135|38679974|na
EVID: supported by alignment with mRNA
XM: NM_198839|38679976|na
XP: NP_942136|38679977|na
ACCNUM: AY315616|33112864|na|na|na
TYPE: g
ACCNUM: AY315617|33112865|na|na|na
TYPE: g
ACCNUM: AY315618|33112866|na|na|na
TYPE: g
PROT: AAP94113|33112867|1
ACCNUM: AK129523|34526080|na|na|na
TYPE: m
ACCNUM: AY237919|37930491|na|na|na
TYPE: m
PROT: AAP69841|37930492|1
ACCNUM: AY315619|33112868|na|na|na
TYPE: m
PROT: AAP94114|33112869|1
ACCNUM: AY315620|33112870|na|na|na
TYPE: m
PROT: AAP94115|33112871|1
ACCNUM: AY315621|33112872|na|na|na
TYPE: m
PROT: AAP94116|33112873|1
ACCNUM: AY315622|33112874|na|na|na
TYPE: m
PROT: AAP94117|33112875|1
ACCNUM: AY315623|33112876|na|na|na
TYPE: m
PROT: AAP94118|33112877|1
ACCNUM: AY315624|33112878|na|na|na
TYPE: m
PROT: AAP94119|33112879|1
ACCNUM: AY315625|33112880|na|na|na
TYPE: m
PROT: AAP94120|33112881|1
ACCNUM: AY315626|33112882|na|na|na
TYPE: m
PROT: AAP94121|33112883|1
ACCNUM: AY315627|33112884|na|na|na
TYPE: m
PROT: AAP94122|33112885|1
ACCNUM: BC031485|23306451|na|na|na
TYPE: m
PROT: AAH31485|32425437|1
ACCNUM: BC041598|27370835|na|na|na
TYPE: m
ACCNUM: BF154865|11050048|na|na|na
TYPE: m
ACCNUM: CF454424|34454080|na|na|na
TYPE: m
ACCNUM: U19822|849082|na|na|na
TYPE: m
PROT: AAC50139|849083|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13085|2493311|0
OFFICIAL_SYMBOL: ACACA
OFFICIAL_GENE_NAME: acetyl-Coenzyme A carboxylase alpha
ALIAS_SYMBOL: ACC
ALIAS_SYMBOL: ACAC
ALIAS_SYMBOL: ACC1
ALIAS_SYMBOL: ACCA
PREFERRED_PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 1
PREFERRED_PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 2
PREFERRED_PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 3
PREFERRED_PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 4
PREFERRED_PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 5
PREFERRED_PRODUCT: acetyl-Coenzyme A carboxylase alpha isoform 6
SUMMARY: Summary: Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene.
CHR: 17
STS: Cda0ce05|17|37182|na|seq_map|epcr
STS: G19724|17|55059|na|seq_map|epcr
STS: A001W36|17|55060|na|seq_map|epcr
STS: SHGC-31900|17|81545|na|seq_map|epcr
COMP: 32537|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A31[id]+AND+gene[obj_type]&QSTR=acaca&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ACC-alpha
ALIAS_PROT: acetyl-CoA carboxylase 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=449863
UNIGENE: Hs.449863
OMIM: 200350
ECNUM: 6.4.1.2
MAP: 17q21|HUGO|C|
MAPLINK: default_human_gene|ACACA
PHENOTYPE: Acetyl-CoA carboxylase deficiency
PHENOTYPE_ID: 200350
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=31
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=31[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120534
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198839
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198839
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+31
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+31
DB_DESCR: KEGG pathway: Tetracycline biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00253+31
DB_DESCR: KEGG pathway: Fatty acid biosynthesis (path 1)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00061+31
PMID: 14643797,12810950,12477932,10737800,7905825,7732023,2906852
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|acetyl-CoA carboxylase activity|TAS|GO:0003989|GOA|7905825
GO: molecular function|biotin binding|IEA|GO:0009374|GOA|na
GO: molecular function|biotin carboxylase activity|IEA|GO:0004075|GOA|na
GO: cellular component|biotin carboxylase complex|IEA|GO:0009343|GOA|na
GO: biological process|fatty acid biosynthesis|IEA|GO:0006633|GOA|na
GO: molecular function|ligase activity|IEA|GO:0016874|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
>>32
LOCUSID: 32
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001093|4501854|na
NP: NP_001084|4501855
CDD: COG0439: Biotin carboxylase [Lipid metabolism]|COG0439|913|na|3.557150e+02
CDD: pfam01039: Carboxyl transferase domain. All of the members in this family are biotin dependent carboxylases. The carboxyl transferase domain carries out the following reaction|pfam01039|1366|na|5.301630e+02
PRODUCT: acetyl-Coenzyme A carboxylase beta
ASSEMBLY: U89344
CONTIG: NT_009775.14|37544143|na|146720|273676|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_001093|4501854|na
XP: NP_001084|4501855|na
ACCNUM: U34591|1399289|na|na|na
TYPE: m
PROT: AAC50571|1399290|1
ACCNUM: U89344|2138329|na|na|na
TYPE: m
PROT: AAB58382|2138330|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O00763|2493312|0
OFFICIAL_SYMBOL: ACACB
OFFICIAL_GENE_NAME: acetyl-Coenzyme A carboxylase beta
ALIAS_SYMBOL: ACC2
ALIAS_SYMBOL: ACCB
ALIAS_SYMBOL: HACC275
PREFERRED_PRODUCT: acetyl-Coenzyme A carboxylase beta
SUMMARY: Summary:  Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis.  ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria.  ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis.  There is evidence for the presence of two ACC-beta isoforms.
CHR: 12
STS: D12S1204E|-|9254|D12S1204E|na|epcr
STS: SGC32926|-|51336|na|na|epcr
COMP: 31015|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A32[id]+AND+gene[obj_type]&QSTR=acacb&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=234898
UNIGENE: Hs.234898
OMIM: 601557
ECNUM: 6.4.1.2
ECNUM: 6.3.4.14
MAP: 12q24.1|RefSeq|C|
MAPLINK: default_human_gene|ACACB
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=32
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=32[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5200247
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001093
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001093
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+32
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+32
DB_DESCR: KEGG pathway: Tetracycline biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00253+32
DB_DESCR: KEGG pathway: Fatty acid biosynthesis (path 1)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00061+32
PMID: 14627750,12413941,12086953,9284908,9099716,8876158,8670171
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|acetyl-CoA carboxylase activity|NR|GO:0003989|GOA|na
GO: molecular function|biotin binding|IEA|GO:0009374|GOA|na
GO: molecular function|biotin carboxylase activity|IEA|GO:0004075|GOA|na
GO: cellular component|biotin carboxylase complex|IEA|GO:0009343|GOA|na
GO: biological process|fatty acid biosynthesis|IEA|GO:0006633|GOA|na
GO: molecular function|ligase activity|IEA|GO:0016874|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
>>33
LOCUSID: 33
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001608|46488924|na
NP: NP_001599|4501857
CDD: KOG0141: Isovaleryl-CoA dehydrogenase [Amino acid transport and metabolism, Lipid transport and metabolism]|17938|1624|na|6.296590e+02
PRODUCT: acyl-Coenzyme A dehydrogenase, long chain precursor
ASSEMBLY: BC039063
CONTIG: NT_005403.14|37551287|na|61262181|61299407|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_001608|46488924|na
XP: NP_001599|4501857|na
ACCNUM: BC039063|24660233|na|na|na
TYPE: m
PROT: AAH39063|24660234|1
ACCNUM: BC064549|40352987|na|na|na
TYPE: m
PROT: AAH64549|40352988|1
ACCNUM: M74096|177961|na|na|na
TYPE: m
PROT: AAA51565|177962|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P28330|113015|0
OFFICIAL_SYMBOL: ACADL
OFFICIAL_GENE_NAME: acyl-Coenzyme A dehydrogenase, long chain
ALIAS_SYMBOL: LCAD
ALIAS_SYMBOL: ACAD4
PREFERRED_PRODUCT: acyl-Coenzyme A dehydrogenase, long chain precursor
SUMMARY: Summary: The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia.
CHR: 2
STS: RH69173|2|75144|na|seq_map|epcr
STS: SHGC-36221|2|77470|na|seq_map|epcr
STS: RH80284|2|84576|na|seq_map|epcr
STS: ACADL_199|-|276957|na|na|epcr
COMP: 20389|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A33[id]+AND+gene[obj_type]&QSTR=acadl&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=430108
UNIGENE: Hs.430108
OMIM: 201460
ECNUM: 1.3.99.13
MAP: 2q34-q35|HUGO|C|
MAPLINK: default_human_gene|ACADL
PHENOTYPE: Acyl-CoA dehydrogenase, long chain, deficiency of
PHENOTYPE_ID: 201460
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=33
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=33[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118745
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001608
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001608
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=201460
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+33
PMID: 12477932,10832093,9003458,8739959,4022672,2000272,1945557,1774065,1607358,1438359
GO: molecular function|acyl-CoA dehydrogenase activity|IEA|GO:0003995|GOA|na
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|fatty acid metabolism|IEA|GO:0006631|GOA|na
GO: molecular function|long-chain-acyl-CoA dehydrogenase activity|TAS|GO:0004466|GOA|1945557
GO: cellular component|mitochondrion|NR|GO:0005739|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>34
LOCUSID: 34
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000016|21327681|na
NP: NP_000007|4557231
CDD: KOG0140: Medium-chain acyl-CoA dehydrogenase [Lipid transport and metabolism]|17937|1768|na|6.851430e+02
PRODUCT: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
ASSEMBLY: AH002873,M16827
CONTIG: NT_026943.13|37540182|na|1010456|1049357|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_000016|21327681|na
XP: NP_000007|4557231|na
ACCNUM: M60505|187418|na|na|na
TYPE: g
PROT: AAB59625|553529|1
ACCNUM: M91432|187431|na|na|na
TYPE: g
PROT: AAA59567|187433|1
ACCNUM: U33947|3413687|na|na|na
TYPE: g
ACCNUM: AF251043|7542836|na|na|na
TYPE: m
PROT: AAF63626|7542837|1
ACCNUM: BC005377|13529232|na|na|na
TYPE: m
PROT: AAH05377|13529233|1
ACCNUM: BX647734|34366891|na|na|na
TYPE: m
ACCNUM: M16827|177963|na|na|na
TYPE: m
PROT: AAA51566|177964|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P11310|113017|0
OFFICIAL_SYMBOL: ACADM
OFFICIAL_GENE_NAME: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
ALIAS_SYMBOL: MCAD
ALIAS_SYMBOL: ACAD1
ALIAS_SYMBOL: MCADH
PREFERRED_PRODUCT: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
SUMMARY: Summary: This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Clinical phenotypes are associated with ACADM hereditary deficiency.
CHR: 1
STS: D1S2386|1|41314|D1S2386|seq_map|epcr
STS: RH17668|1|82433|na|seq_map|epcr
STS: GDB:631822|1|158432|na|seq_map|epcr
STS: GDB:631826|1|158433|na|seq_map|epcr
STS: GDB:631830|1|158434|na|seq_map|epcr
STS: SHGC-132084|1|170635|na|seq_map|epcr
STS: ACADM__2214|-|280429|na|na|epcr
COMP: 3|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A34[id]+AND+gene[obj_type]&QSTR=acadm&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: medium-chain acyl-CoA dehydrogenase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=254593
UNIGENE: Hs.254593
OMIM: 607008
ECNUM: 1.3.99.3
MAP: 1p31|HUGO|C|
MAPLINK: default_human_gene|ACADM
PHENOTYPE: Acyl-CoA dehydrogenase, medium chain, deficiency of
PHENOTYPE_ID: 201450
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=34
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=34[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118958
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118958.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000016
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000016
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=201450
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=607008
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+34
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+34
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+34
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+34
PMID: 14692513,12914524,12522104,12477932,6857268,3035565,2393404,1731887
GO: molecular function|acyl-CoA dehydrogenase activity|IMP|GO:0003995|GOA|2393404
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|energy pathways|NR|GO:0006091|GOA|na
GO: biological process|fatty acid beta-oxidation|IMP|GO:0006635|GOA|2393404
GO: biological process|fatty acid metabolism|IEA|GO:0006631|GOA|na
GO: cellular component|mitochondrial matrix|IEP|GO:0005759|GOA|2393404
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>35
LOCUSID: 35
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000017|4557232|na
NP: NP_000008|4557233
CDD: KOG0139: Short-chain acyl-CoA dehydrogenase [Lipid transport and metabolism]|17936|1310|na|5.087380e+02
PRODUCT: acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain precursor
ASSEMBLY: M26393
CONTIG: NT_009775.14|37544143|na|11653951|11696552|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_000017|4557232|na
XP: NP_000008|4557233|na
ACCNUM: U83992|4099117|na|na|na
TYPE: g
PROT: AAD00552|4099119|1
ACCNUM: Z80345|2995253|na|na|na
TYPE: g
PROT: CAB02492|2821942|1
ACCNUM: Z80347|2821943|na|na|na
TYPE: g
ACCNUM: BC025963|19684165|na|na|na
TYPE: m
PROT: AAH25963|19684166|1
ACCNUM: M26393|337927|na|na|na
TYPE: m
PROT: AAA60307|337928|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P16219|113019|0
OFFICIAL_SYMBOL: ACADS
OFFICIAL_GENE_NAME: acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain
ALIAS_SYMBOL: SCAD
ALIAS_SYMBOL: ACAD3
PREFERRED_PRODUCT: acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain precursor
SUMMARY: Summary:  The nuclear ACADS gene encodes a mitochondrially-targeted protein product.  Acyl-Coenzyme A dehydrogenase, short-chain specific, catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Clinical phenotypes, described elsewhere, are associated with ACADS hereditary deficiency.
CHR: 12
STS: RH75794|12|87176|na|seq_map|epcr
COMP: 20057|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A35[id]+AND+gene[obj_type]&QSTR=acads&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=533927
UNIGENE: Hs.533927
OMIM: 606885
ECNUM: 1.3.99.2
MAP: 12q22-qter|HUGO|C|
MAPLINK: default_human_gene|ACADS
PHENOTYPE: Acyl-CoA dehydrogenase, short-chain, deficiency of
PHENOTYPE_ID: 201470
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=35
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=35[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118959
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118959.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000017
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000017
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=201470
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=606885
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+35
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+35
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+35
PMID: 12477932,12220177,8276399,2565344
GO: molecular function|butyryl-CoA dehydrogenase activity|IEA|GO:0004085|GOA|na
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|energy pathways|NR|GO:0006091|GOA|na
GO: biological process|fatty acid beta-oxidation|TAS|GO:0006635|GOA|8276399
GO: biological process|fatty acid metabolism|IEA|GO:0006631|GOA|na
GO: cellular component|mitochondrion|NR|GO:0005739|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>36
LOCUSID: 36
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001609|38373685|na
NP: NP_001600|4501859
CDD: KOG0139: Short-chain acyl-CoA dehydrogenase [Lipid transport and metabolism]|17936|1529|na|5.930970e+02
PRODUCT: acyl-Coenzyme A dehydrogenase, short/branched chain precursor
ASSEMBLY: AL831821,BC013756,BC032395,BE875638,U12778
CONTIG: NT_037753.4|37551011|na|315719|364991|+|10|reference
EVID: supported by alignment with mRNA
XM: NM_001609|38373685|na
XP: NP_001600|4501859|na
ACCNUM: AF260678|9739136|na|na|na
TYPE: g
PROT: AAF97921|9739137|1
ACCNUM: AL831821|30268182|na|na|na
TYPE: m
PROT: CAD38535|30268183|2
ACCNUM: BC013756|15559224|na|na|na
TYPE: m
PROT: AAH13756|15559225|1
ACCNUM: BC020931|18088678|na|na|na
TYPE: m
PROT: AAH20931|18088679|1
ACCNUM: BC032395|21595441|na|na|na
TYPE: m
ACCNUM: BC045723|28278043|na|na|na
TYPE: m
ACCNUM: BE875638|10324414|na|na|na
TYPE: m
ACCNUM: U12778|531390|na|na|na
TYPE: m
PROT: AAA74424|531391|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P45954|1168283|0
OFFICIAL_SYMBOL: ACADSB
OFFICIAL_GENE_NAME: acyl-Coenzyme A dehydrogenase, short/branched chain
ALIAS_SYMBOL: ACAD7
ALIAS_SYMBOL: SBCAD
ALIAS_SYMBOL: 2-MEBCAD
PREFERRED_PRODUCT: acyl-Coenzyme A dehydrogenase, short/branched chain precursor
SUMMARY: Summary: Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa.
CHR: 10
STS: D10S2417|10|5808|D10S2417|seq_map|epcr
STS: RH68878|10|23377|na|seq_map|epcr
STS: WI-18655|10|25297|na|na|epcr
STS: SHGC-35255|10|32151|na|seq_map|epcr
STS: RH44778|10|45282|na|seq_map|epcr
STS: RH70481|10|52967|na|seq_map|epcr
STS: SHGC-13269|10|55430|na|seq_map|epcr
STS: RH44700|10|68725|na|seq_map|epcr
STS: ACADSB_201|-|276958|na|na|epcr
COMP: 1216|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A36[id]+AND+gene[obj_type]&QSTR=acadsb&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: 2-methylbutyryl-CoA dehydrogenase
ALIAS_PROT: 2-methyl branched chain acyl-CoA dehydrogenase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81934
UNIGENE: Hs.81934
OMIM: 600301
MAP: 10q25-q26|HUGO|C|
MAPLINK: default_human_gene|ACADSB
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=36
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=36[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:388699
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001609
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001609
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+36
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+36
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+36
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+36
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+36
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+36
PMID: 12855692,12477932,7759115,7698750
GO: molecular function|acyl-CoA dehydrogenase activity|TAS|GO:0003995|GOA|7698750
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|energy pathways|NR|GO:0006091|GOA|na
GO: biological process|fatty acid metabolism|TAS|GO:0006631|GOA|7698750
GO: cellular component|mitochondrion|TAS|GO:0005739|GOA|7698750
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>37
LOCUSID: 37
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000018|4557234|na
NP: NP_000009|4557235
CDD: KOG0137: Very-long-chain acyl-CoA dehydrogenase [Lipid transport and metabolism]|17934|2008|na|7.775860e+02
PRODUCT: acyl-Coenzyme A dehydrogenase, very long chain precursor
ASSEMBLY: X86556
CONTIG: NT_010718.14|37543500|na|5934703|5969587|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_000018|4557234|na
XP: NP_000009|4557235|na
ACCNUM: AF244932|7804903|na|na|na
TYPE: g
ACCNUM: AJ012053|4454209|na|na|na
TYPE: g
ACCNUM: D78298|1261851|na|na|na
TYPE: g
PROT: BAA29057|3273228|1
ACCNUM: L46590|1008851|na|na|na
TYPE: g
PROT: AAA79002|1008852|1
ACCNUM: AK056083|16551392|na|na|na
TYPE: m
ACCNUM: AK056956|16552500|na|na|na
TYPE: m
ACCNUM: AK058109|16554146|na|na|na
TYPE: m
ACCNUM: AK097243|21756933|na|na|na
TYPE: m
ACCNUM: BC000399|33875393|na|na|na
TYPE: m
PROT: AAH00399|12653261|1
ACCNUM: BC012912|15277724|na|na|na
TYPE: m
PROT: AAH12912|15277725|1
ACCNUM: BC020218|18044942|na|na|na
TYPE: m
PROT: AAH20218|18044943|1
ACCNUM: D43682|1060913|na|na|na
TYPE: m
PROT: BAA07781|1235728|1
ACCNUM: X86556|790446|na|na|na
TYPE: m
PROT: CAA60253|790447|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P49748|1703068|0
OFFICIAL_SYMBOL: ACADVL
OFFICIAL_GENE_NAME: acyl-Coenzyme A dehydrogenase, very long chain
ALIAS_SYMBOL: ACAD6
ALIAS_SYMBOL: LCACD
ALIAS_SYMBOL: VLCAD
PREFERRED_PRODUCT: acyl-Coenzyme A dehydrogenase, very long chain precursor
SUMMARY: Summary:  The ACADVL gene product is targetted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway.  This acyl-Coenzyme A dehydrogenase is specific to long-chain and very long-chain fatty acids. ACADVL deficiency reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy.
CHR: 17
STS: SHGC-35547|17|15298|na|seq_map|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437178
UNIGENE: Hs.437178
OMIM: 201475
MAP: 17p13-p11|RefSeq|C|
MAPLINK: default_human_gene|ACADVL
PHENOTYPE: VLCAD deficiency
PHENOTYPE_ID: 201475
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=37
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=37[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:1248185
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/1248185.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000018
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000018
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=201475
DB_DESCR: KEGG pathway: Sterol biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00100+37
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+37
DB_DESCR: KEGG pathway: Terpenoid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00900+37
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+37
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+37
PMID: 14702039,12609736,12477932,8921384,8845838,8554625,8466512,7668252,7479827
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|energy derivation by oxidation of organic compounds|TAS|GO:0015980|GOA|7479827
GO: biological process|fatty acid beta-oxidation|TAS|GO:0006635|GOA|7668252
GO: biological process|fatty acid metabolism|IEA|GO:0006631|GOA|na
GO: molecular function|long-chain-acyl-CoA dehydrogenase activity|TAS|GO:0004466|GOA|8466512
GO: cellular component|mitochondrion|TAS|GO:0005739|GOA|7668252
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>38
LOCUSID: 38
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000019|31563501|na
NP: NP_000010|4557237
CDD: KOG1390: Acetyl-CoA acetyltransferase [Lipid transport and metabolism]|19179|1441|na|5.591410e+02
PRODUCT: acetyl-Coenzyme A acetyltransferase 1 precursor
ASSEMBLY: D90228
CONTIG: NT_033899.6|37540935|na|11536042|11562059|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_000019|31563501|na
XP: NP_000010|4557237|na
ACCNUM: D10511|499156|na|na|na
TYPE: g
PROT: BAA01387|499158|1
ACCNUM: BC010942|15012079|na|na|na
TYPE: m
PROT: AAH10942|15012080|1
ACCNUM: D90228|219917|na|na|na
TYPE: m
PROT: BAA14278|219918|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P24752|135755|0
OFFICIAL_SYMBOL: ACAT1
OFFICIAL_GENE_NAME: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
ALIAS_SYMBOL: T2
ALIAS_SYMBOL: MAT
ALIAS_SYMBOL: ACAT
ALIAS_SYMBOL: THIL
PREFERRED_PRODUCT: acetyl-Coenzyme A acetyltransferase 1 precursor
SUMMARY: Summary: This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This gene spans approximately 27 kb and contains 12 exons interrupted by 11 introns. Defects in this gene are associated with the alpha-methylacetoaceticaciduria disorder, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone.
CHR: 11
STS: D11S4336|11|39193|D11S4336|seq_map|epcr
STS: STS-AA010069|-|40321|na|na|epcr
STS: GDB:555481|-|157672|na|na|epcr
STS: GDB:555490|-|157674|na|na|epcr
COMP: 6|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A38[id]+AND+gene[obj_type]&QSTR=acat1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: acetoacetyl Coenzyme A thiolase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37
UNIGENE: Hs.37
OMIM: 607809
ECNUM: 2.3.1.9
MAP: 11q22.3-q23.1|HUGO|C|
MAPLINK: default_human_gene|ACAT1
PHENOTYPE: Alpha-methylacetoacetic aciduria
PHENOTYPE_ID: 203750
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=38
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=38[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:126861
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/126861.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000019
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000019
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=203750
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=607809
DB_DESCR: KEGG pathway: Lysine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00310+38
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+38
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+38
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+38
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+38
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+38
DB_DESCR: KEGG pathway: Fatty acid biosynthesis (path 2)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00062+38
DB_DESCR: KEGG pathway: Benzoate degradation via CoA ligation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00632+38
DB_DESCR: KEGG pathway: Synthesis and degradation of ketone bodies
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00072+38
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+38
PMID: 12754704,12533546,12477932,1979337,1715688,1684944,1351831
GO: molecular function|acetyl-CoA C-acetyltransferase activity|TAS|GO:0003985|GOA|1979337
GO: molecular function|acyltransferase activity|IEA|GO:0008415|GOA|na
GO: cellular component|mitochondrion|TAS|GO:0005739|GOA|1715688
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>39
LOCUSID: 39
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005891|5174388|na
NP: NP_005882|5174389
CDD: KOG1390: Acetyl-CoA acetyltransferase [Lipid transport and metabolism]|19179|1428|na|5.541330e+02
PRODUCT: acetyl-Coenzyme A acetyltransferase 2
ASSEMBLY: S70154
CONTIG: NT_007422.12|29803241|na|2470426|2487428|+|6|reference
EVID: supported by alignment with mRNA
XM: NM_005891|5174388|na
XP: NP_005882|5174389|na
ACCNUM: AF356877|19880018|na|na|na
TYPE: m
PROT: AAM00223|19880019|1
ACCNUM: AK055001|16549641|na|na|na
TYPE: m
ACCNUM: BC000408|38197144|na|na|na
TYPE: m
PROT: AAH00408|12653279|1
ACCNUM: S70154|546900|na|na|na
TYPE: m
PROT: AAB30856|546901|1
OFFICIAL_SYMBOL: ACAT2
OFFICIAL_GENE_NAME: acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)
PREFERRED_PRODUCT: acetyl-Coenzyme A acetyltransferase 2
SUMMARY: Summary:  Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism.  Reported patients with ACAT2 deficiency have shown severe mental retardation and hypotonus.  The ACAT2 gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation.
CHR: 6
STS: G05384|-|46990|na|na|epcr
STS: D6S1840|6|58762|D6S1840|seq_map|epcr
STS: G43314|-|94935|na|na|epcr
COMP: 21194|6|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=6&MAPS=genes-r-org/rat-chr/human%3A6,genes-r-org/mouse-chr/human%3A6,genes-r-org/human-chr6&query=e%3A39[id]+AND+gene[obj_type]&QSTR=acat2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: acetoacetyl Coenzyme A thiolase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278544
UNIGENE: Hs.278544
OMIM: 100678
MAP: 6q25.3-q26|HUGO|C|
MAPLINK: default_human_gene|ACAT2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=39
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=39[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:321951
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005891
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005891
DB_DESCR: KEGG pathway: Lysine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00310+39
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+39
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+39
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+39
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+39
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+39
DB_DESCR: KEGG pathway: Fatty acid biosynthesis (path 2)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00062+39
DB_DESCR: KEGG pathway: Benzoate degradation via CoA ligation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00632+39
DB_DESCR: KEGG pathway: Synthesis and degradation of ketone bodies
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00072+39
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+39
PMID: 14702039,14615411,12477932,8812443,7911016,6150136,2475872
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|7911016
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|7911016
>>40
LOCUSID: 40
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001094|34452696|na
NP: NP_001085|9998944
CDD: pfam00858: Amiloride-sensitive sodium channel|23106|1069|na|4.159270e+02
PRODUCT: neuronal amiloride-sensitive cation channel 1 isoform 2
TRANSVAR: Transcript Variant: This variant (2) uses an alternate 5'-terminal exon, compared to variant 1, resulting in a shorter isoform (2) with a distinct N-terminus, compared to isoform 1.
ASSEMBLY: U57352
NM: NM_183377|34452694|na
NP: NP_899233|34452695
CDD: pfam00858: Amiloride-sensitive sodium channel|23106|1087|na|4.228610e+02
PRODUCT: neuronal amiloride-sensitive cation channel 1 isoform 1
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
ASSEMBLY: AL834182
CONTIG: NT_010799.14|37544509|na|6077085|6356986|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_001094|34452696|na
XP: NP_001085|9998944|na
EVID: supported by alignment with mRNA
XM: NM_183377|34452694|na
XP: NP_899233|34452695|na
ACCNUM: AK127748|34534791|na|na|na
TYPE: m
ACCNUM: AL834182|21739676|na|na|na
TYPE: m
PROT: CAD38879|21739677|1
ACCNUM: BC075042|50959720|na|na|na
TYPE: m
ACCNUM: BC075043|50960467|na|na|na
TYPE: m
ACCNUM: U50352|1256016|na|na|na
TYPE: m
PROT: AAC50432|1256017|1
ACCNUM: U53212|1280438|na|na|na
TYPE: m
PROT: AAC50498|1280439|1
ACCNUM: U57352|1354850|na|na|na
TYPE: m
PROT: AAB49182|1354851|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q16515|2500840|0
OFFICIAL_SYMBOL: ACCN1
OFFICIAL_GENE_NAME: amiloride-sensitive cation channel 1, neuronal (degenerin)
ALIAS_SYMBOL: ACCN
ALIAS_SYMBOL: BNC1
ALIAS_SYMBOL: MDEG
ALIAS_SYMBOL: ASIC2
ALIAS_SYMBOL: BNaC1
ALIAS_SYMBOL: ASIC2a
ALIAS_SYMBOL: hBNaC1
PREFERRED_PRODUCT: neuronal amiloride-sensitive cation channel 1 isoform 1
PREFERRED_PRODUCT: neuronal amiloride-sensitive cation channel 1 isoform 2
SUMMARY: Summary: This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and ACCN3 (variant 1) has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified.
CHR: 17
STS: D17S1656|-|33263|D17S1656|na|epcr
STS: SHGC-84158|-|104675|na|na|epcr
STS: G42370|-|139484|na|na|epcr
STS: SHGC-146075|-|174984|na|na|epcr
STS: SHGC-155068|-|183083|na|na|epcr
COMP: 20301|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A40[id]+AND+gene[obj_type]&QSTR=accn1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: degenerin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6517
UNIGENE: Hs.6517
OMIM: 601784
MAP: 17q11.2-q12|RefSeq|C|
MAPLINK: default_human_gene|ACCN1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=40
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=40[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:4645366
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183377
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183377
PMID: 12477932,9037075,8921408,8631835,8626462
GO: molecular function|amiloride-sensitive sodium channel activity|IEA|GO:0015280|GOA|8626462
GO: molecular function|amiloride-sensitive sodium channel activity|TAS|GO:0015280|GOA|8626462
GO: biological process|central nervous system development|TAS|GO:0007417|GOA|8626462
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8626462
GO: molecular function|ion channel activity|IEA|GO:0005216|GOA|na
GO: biological process|ion transport|IEA|GO:0006811|GOA|na
GO: cellular component|membrane fraction|NR|GO:0005624|GOA|na
GO: biological process|peripheral nervous system development|TAS|GO:0007422|GOA|8626462
GO: biological process|sodium ion transport|IEA|GO:0006814|GOA|na
GO: biological process|synaptic transmission|TAS|GO:0007268|GOA|8626462
>>41
LOCUSID: 41
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001095|21536348|na
NP: NP_001086|21536349
CDD: pfam00858: Amiloride-sensitive sodium channel|23106|1133|na|4.405800e+02
PRODUCT: amiloride-sensitive cation channel 2, neuronal isoform b
TRANSVAR: Transcript Variant: This variant (2) does not have an insertion of 138 bps, as compared to variant 1. This variant encodes isoform b, consisting of 528 amino acids. The encoded protein is smaller by 46 amino acids in its second hydrophobic domain compared to the protein encoded by variant 1.
ASSEMBLY: U78181
NM: NM_020039|21536350|na
NP: NP_064423|21536351
CDD: pfam00858: Amiloride-sensitive sodium channel|23106|1073|na|4.174680e+02
PRODUCT: amiloride-sensitive cation channel 2, neuronal isoform a
TRANSVAR: Transcript Variant: This variant (1) contains an insertion of 138 bps near the beginning of the region encoding the second hydrophobic transmembrane domain resulting in an additional 46 amino acids, as compared to variant 2.
ASSEMBLY: U78180
CONTIG: NT_029419.10|29803948|na|12594793|12620700|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_001095|21536348|na
XP: NP_001086|21536349|na
EVID: supported by alignment with mRNA
XM: NM_020039|21536350|na
XP: NP_064423|21536351|na
ACCNUM: BC013891|39644998|na|na|na
TYPE: m
PROT: AAH13891|39644999|2
ACCNUM: U78180|1871167|na|na|na
TYPE: m
PROT: AAB48980|1871168|1
ACCNUM: U78181|1871169|na|na|na
TYPE: m
PROT: AAB48981|1871170|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P78348|17433015|0
OFFICIAL_SYMBOL: ACCN2
OFFICIAL_GENE_NAME: amiloride-sensitive cation channel 2, neuronal
ALIAS_SYMBOL: ASIC
ALIAS_SYMBOL: BNaC2
ALIAS_SYMBOL: ASIC1A
PREFERRED_PRODUCT: amiloride-sensitive cation channel 2, neuronal isoform a
PREFERRED_PRODUCT: amiloride-sensitive cation channel 2, neuronal isoform b
SUMMARY: Summary: This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is expressed in most if not all brain neurons, and it may be an ion channel subunit; however, its function as an ion channel remains unknown. Alternative splicing of this gene generates 2 transcript products.
CHR: 12
STS: WI-22480|12|63474|na|seq_map|epcr
STS: RH70705|12|77696|na|seq_map|epcr
COMP: 20302|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A41[id]+AND+gene[obj_type]&QSTR=accn2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: hBNaC2
ALIAS_PROT: Cation channel, amiloride-sensitive, neuronal, 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274361
UNIGENE: Hs.274361
OMIM: 602866
MAP: 12q12|RefSeq|C|
MAPLINK: default_human_gene|ACCN2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=41
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=41[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6944484
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020039
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020039
PMID: 14988500,12477932,12393854,12244121,11748227,11448963,9062189,9037075,8685718
GO: molecular function|amiloride-sensitive sodium channel activity|NAS|GO:0015280|GOA|na
GO: cellular component|integral to membrane|ISS|GO:0016021|GOA|na
GO: molecular function|ion channel activity|IEA|GO:0005216|GOA|na
GO: biological process|ion transport|IEA|GO:0006811|GOA|na
GO: biological process|sodium ion transport|NAS|GO:0006814|GOA|9037075
>>42
LOCUSID: 42
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACHAP
OFFICIAL_GENE_NAME: acetylcholinesterase-associated protein
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9836107
>>43
LOCUSID: 43
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000665|7710156|na
NP: NP_000656|4557239
CDD: KOG4389: Acetylcholinesterase/Butyrylcholinesterase [Signal transduction mechanisms]|22165|2175|na|8.419040e+02
PRODUCT: acetylcholinesterase hydrophilic form precursor
TRANSVAR: Transcript Variant:  The splice variant E4-E6 is the major, and ubiquitously expressed, transcript. It results from the splicing of exon 4 to exon 6, and encodes the hydrophilic form of acetylcholinesterase.
ASSEMBLY: L06484,M55040
NM: NM_015831|7710111|na
NP: NP_056646|7710112
CDD: KOG4389: Acetylcholinesterase/Butyrylcholinesterase [Signal transduction mechanisms]|22165|2062|na|7.983760e+02
PRODUCT: acetylcholinesterase PI-linked form precursor
TRANSVAR: Transcript Variant:  The splice variant E4-E5 is primarily expressed in erythroid tissues, and appears to encode the PI-linked form of acetylcholinesterase. It results from tissue-specific alternative splicing of exon 4 to exon 5.
ASSEMBLY: L06484,L42812,M55040
CONTIG: NT_007933.13|37538784|na|25721200|25727080|-|7|reference
EVID: supported by alignment with mRNA
XM: NM_000665|7710156|na
XP: NP_000656|4557239|na
EVID: supported by alignment with mRNA
XM: NM_015831|7710111|na
XP: NP_056646|7710112|na
CONTIG: NT_079595.1|37539165|na|25750027|25755907|-|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_000665|7710156|na
XP: NP_000656|4557239|na
EVID: supported by alignment with mRNA
XM: NM_015831|7710111|na
XP: NP_056646|7710112|na
ACCNUM: AF002993|2735699|na|na|na
TYPE: g
ACCNUM: AF312032|13383497|na|na|na
TYPE: g
PROT: AAK21003|13383498|1
ACCNUM: L06484|306774|na|na|na
TYPE: g
ACCNUM: L42812|854682|na|na|na
TYPE: g
ACCNUM: S71129|545224|na|na|na
TYPE: g
PROT: AAC60618|545225|1
ACCNUM: AF334270|28190019|na|na|na
TYPE: m
PROT: AAO32948|28190020|1
ACCNUM: BC026315|20072853|na|na|na
TYPE: m
ACCNUM: BC036813|22477296|na|na|na
TYPE: m
ACCNUM: M55040|177974|na|na|na
TYPE: m
PROT: AAA68151|177975|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P22303|113037|0
OFFICIAL_SYMBOL: ACHE
OFFICIAL_GENE_NAME: acetylcholinesterase (YT blood group)
ALIAS_SYMBOL: YT
PREFERRED_PRODUCT: acetylcholinesterase PI-linked form precursor
PREFERRED_PRODUCT: acetylcholinesterase hydrophilic form precursor
SUMMARY: Summary: Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally.
CHR: 7
STS: RH17909|7|9694|na|seq_map|epcr
STS: STS-M55040|7|51680|na|seq_map|epcr
COMP: 543|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A43[id]+AND+gene[obj_type]&QSTR=ache&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154495
UNIGENE: Hs.154495
OMIM: 100740
ECNUM: 3.1.1.7
MAP: 7q22|HUGO|C|
MAPLINK: default_human_gene|ACHE
PHENOTYPE: Blood group, Yt system
PHENOTYPE_ID: 112100
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=43
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=43[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118746
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118746.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015831
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015831
DB_DESCR: KEGG pathway: Alzheimer's disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05010+43
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+43
DB_DESCR: Blood Group Antigen Gene Mutation Database
DB_LINK: http://www.bioc.aecom.yu.edu/bgmut/yt.htm
PMID: 15161650,14766237,12963741,12851386,12811800,12769797,12548360,12466963,12140295,12081473,12069617,12009429,11283752,9579781,8488842,8460160,8449945,8248502,2734315,2263619,1744105,1609795,1517212,1391965,1380483
GO: biological process|DNA replication|TAS|GO:0006260|GOA|11283752
GO: molecular function|acetylcholine binding|NAS|GO:0042166|GOA|1517212
GO: biological process|acetylcholine breakdown in synaptic cleft|NAS|GO:0001507|GOA|1517212
GO: molecular function|acetylcholinesterase activity|IEA|GO:0003990|GOA|1517212
GO: molecular function|acetylcholinesterase activity|IMP|GO:0003990|GOA|1517212
GO: biological process|amyloid precursor protein metabolism|TAS|GO:0042982|GOA|12769797
GO: cellular component|basal lamina|NAS|GO:0005605|GOA|na
GO: molecular function|beta-amyloid binding|TAS|GO:0001540|GOA|11283752
GO: biological process|cell adhesion|TAS|GO:0007155|GOA|11283752
GO: biological process|cell proliferation|TAS|GO:0008283|GOA|11283752
GO: molecular function|cholinesterase activity|IEA|GO:0004104|GOA|na
GO: cellular component|extracellular|TAS|GO:0005576|GOA|11283752
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: biological process|muscle development|TAS|GO:0007517|GOA|11283752
GO: biological process|neurotransmitter catabolism|IEA|GO:0042135|GOA|na
GO: biological process|positive regulation of protein secretion|TAS|GO:0050714|GOA|11283752
GO: molecular function|protein homodimerization activity|NAS|GO:0042803|GOA|1517212
GO: biological process|response to wounding|TAS|GO:0009611|GOA|11283752
GO: molecular function|serine esterase activity|IEA|GO:0004759|GOA|na
GO: cellular component|synapse|IEA|GO:0045202|GOA|na
GO: biological process|synaptogenesis|TAS|GO:0007416|GOA|11283752
>>44
LOCUSID: 44
CURRENT_LOCUSID: 1261
ORGANISM: Homo sapiens
>>45
LOCUSID: 45
CURRENT_LOCUSID: 54714
ORGANISM: Homo sapiens
>>46
LOCUSID: 46
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACLS
OFFICIAL_GENE_NAME: acrocallosal syndrome
CHR: 12
OMIM: 200990
MAP: 12p13.3-p11.2|HUGO|C|
MAPLINK: default_human_cyto|ACLS
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136346
>>47
LOCUSID: 47
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001096|38569420|na
NP: NP_001087|38569421
CDD: pfam02629: CoA binding domain|8355|184|na|7.484480e+01
CDD: COG0372: Citrate synthase [Energy production and conversion]|10246|377|na|1.492980e+02
CDD: KOG1254: ATP-citrate lyase [Energy production and conversion]|19043|2505|na|9.690440e+02
CDD: COG0045: Succinyl-CoA synthetase, beta subunit [Energy production and conversion]|9920|464|na|1.826870e+02
CDD: COG0074: Succinyl-CoA synthetase, alpha subunit [Energy production and conversion]|9949|539|na|2.115600e+02
PRODUCT: ATP citrate lyase isoform 1
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
ASSEMBLY: BC006195,BG037168
NM: NM_198830|38569422|na
NP: NP_942127|38569423
CDD: pfam02629: CoA binding domain|8355|184|na|7.484480e+01
CDD: COG0372: Citrate synthase [Energy production and conversion]|10246|377|na|1.492980e+02
CDD: KOG1254: ATP-citrate lyase [Energy production and conversion]|19043|2504|na|9.686590e+02
CDD: COG0045: Succinyl-CoA synthetase, beta subunit [Energy production and conversion]|9920|463|na|1.823020e+02
CDD: COG0074: Succinyl-CoA synthetase, alpha subunit [Energy production and conversion]|9949|539|na|2.115600e+02
PRODUCT: ATP citrate lyase isoform 2
TRANSVAR: Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. This results in a shorter isoform (2), compared to isoform 1.
ASSEMBLY: BC006195,BG037168
CONTIG: NT_010755.14|37543812|na|3745677|3797770|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_001096|38569420|na
XP: NP_001087|38569421|na
EVID: supported by alignment with mRNA
XM: NM_198830|38569422|na
XP: NP_942127|38569423|na
ACCNUM: AK095084|21754274|na|na|na
TYPE: m
PROT: BAC04484|21754275|1
ACCNUM: BC006195|33869472|na|na|na
TYPE: m
PROT: AAH06195|13623199|1
ACCNUM: BG037168|12433141|na|na|na
TYPE: m
ACCNUM: U18197|603073|na|na|na
TYPE: m
PROT: AAB60340|603074|1
ACCNUM: X64330|28934|na|na|na
TYPE: m
PROT: CAA45614|28935|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P53396|20141248|0
OFFICIAL_SYMBOL: ACLY
OFFICIAL_GENE_NAME: ATP citrate lyase
ALIAS_SYMBOL: ATPCL
ALIAS_SYMBOL: CLATP
PREFERRED_PRODUCT: ATP citrate lyase isoform 1
PREFERRED_PRODUCT: ATP citrate lyase isoform 2
SUMMARY: Summary: ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Two transcript variants encoding distinct isoforms have been identified for this gene.
CHR: 17
STS: SHGC-11986|17|3576|na|na|epcr
STS: D17S2155|17|5950|D17S2155|seq_map|epcr
STS: GDB:392280|17|157185|na|seq_map|epcr
STS: SHGC-132072|17|170629|na|seq_map|epcr
COMP: 854|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A47[id]+AND+gene[obj_type]&QSTR=acly&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=387567
UNIGENE: Hs.387567
OMIM: 108728
ECNUM: 4.1.3.8
MAP: 17q12-q21|RefSeq|C|
MAPLINK: default_human_gene|ACLY
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=47
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=47[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:316220
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001096
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001096
DB_DESCR: KEGG pathway: Citrate cycle (TCA cycle)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00020+47
PMID: 14702039,14681844,12477932,8088842,1371749
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|ATP catabolism|TAS|GO:0006200|GOA|1371749
GO: molecular function|ATP citrate synthase activity|TAS|GO:0003878|GOA|1371749
GO: molecular function|catalytic activity|IEA|GO:0003824|GOA|na
GO: molecular function|citrate (Si)-synthase activity|IEA|GO:0004108|GOA|na
GO: cellular component|citrate lyase complex|TAS|GO:0009346|GOA|1371749
GO: biological process|citrate metabolism|TAS|GO:0006101|GOA|1371749
GO: biological process|coenzyme A metabolism|TAS|GO:0015936|GOA|1371749
GO: biological process|lipid biosynthesis|IEA|GO:0008610|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
GO: biological process|tricarboxylic acid cycle|IEA|GO:0006099|GOA|na
>>48
LOCUSID: 48
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_002197|8659554|na
NP: NP_002188|8659555
CDD: pfam00694: Aconitase C-terminal domain|23072|529|na|2.077910e+02
CDD: pfam00330: Aconitase family (aconitate hydratase)|22979|1310|na|5.087020e+02
CDD: KOG0452: RNA-binding translational regulator IRP (aconitase superfamily) [RNA processing and modification, Translation, ribosomal structure and biogenesis]|18248|4004|na|1.546430e+03
PRODUCT: aconitase 1
ASSEMBLY: Z11559
CONTIG: NT_008413.16|37540361|na|32374650|32440830|+|9|reference
EVID: supported by alignment with mRNA
XM: NM_002197|8659554|na
XP: NP_002188|8659555|na
ACCNUM: AF261088|9802307|na|na|na
TYPE: m
PROT: AAF99681|9802308|1
ACCNUM: AK057904|16553883|na|na|na
TYPE: m
ACCNUM: BC018103|17390224|na|na|na
TYPE: m
PROT: AAH18103|17390225|1
ACCNUM: M58510|896472|na|na|na
TYPE: m
PROT: AAA69900|896473|1
ACCNUM: Z11559|33962|na|na|na
TYPE: m
PROT: CAA77651|33963|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P21399|3123225|0
OFFICIAL_SYMBOL: ACO1
OFFICIAL_GENE_NAME: aconitase 1, soluble
ALIAS_SYMBOL: IRP1
ALIAS_SYMBOL: IREB1
ALIAS_SYMBOL: IREBP
PREFERRED_PRODUCT: aconitase 1
SUMMARY: Summary:  Aconitase 1, also known as iron regulatory element binding protein 1 (IREB1), is a cytosolic protein which binds to iron-responsive elements (IREs).  IREs are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA.  The iron-induced binding to the IRE results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degrading transferrin receptor mRNA.  Thus, IREB1 plays a central role in cellular iron homeostasis.  It was also shown to have aconitase activity, and hence grouped with the aconitase family of enzymes.
CHR: 9
STS: RH70753|9|6365|na|seq_map|epcr
STS: D9S1955|9|12766|D9S1955|seq_map|epcr
COMP: 1657|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A48[id]+AND+gene[obj_type]&QSTR=aco1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Aconitase, soluble
ALIAS_PROT: iron regulatory protein 1
ALIAS_PROT: iron-responsive element binding protein 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=319677
UNIGENE: Hs.319677
OMIM: 100880
ECNUM: 4.2.1.3
MAP: 9p22-q32|HUGO|C|9p22-p13|RefSeq|C|
MAPLINK: default_human_gene|ACO1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=48
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=48[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118960
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002197
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002197
DB_DESCR: KEGG pathway: Citrate cycle (TCA cycle)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00020+48
DB_DESCR: KEGG pathway: Glyoxylate and dicarboxylate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00630+48
DB_DESCR: KEGG pathway: Reductive carboxylate cycle (CO2 fixation)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00720+48
PMID: 12972614,12855587,12572667,12477932,12196178,11812787,11783942,10944468,9020582,2771641,2172968,1946430,1903202,1738601
GO: molecular function|RNA binding|IDA|GO:0003723|GOA|1903202,1946430
GO: molecular function|RNA binding|NAS|GO:0003723|GOA|1903202,1946430
GO: molecular function|aconitate hydratase activity|IDA|GO:0003994|GOA|1946430
GO: cellular component|cytoplasm|NAS|GO:0005737|GOA|1738601
GO: molecular function|iron ion binding|IEA|GO:0005506|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|negative regulation of translation|ISS|GO:0016478|GOA|2172968
GO: biological process|tricarboxylic acid cycle|IEA|GO:0006099|GOA|na
>>49
LOCUSID: 49
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001097|4501876|na
NP: NP_001088|4501877
CDD: smart00020: Trypsin-like serine protease|22662|643|na|2.517950e+02
PRODUCT: acrosin precursor
ASSEMBLY: Y00970
CONTIG: NT_011526.5|29807563|na|371510|378590|+|22|reference
EVID: supported by alignment with mRNA
XM: NM_001097|4501876|na
XP: NP_001088|4501877|na
ACCNUM: M77378|178007|na|na|na
TYPE: g
PROT: AAA51572|553167|1
ACCNUM: M77379|178009|na|na|na
TYPE: g
PROT: AAA51573|553168|1
ACCNUM: M77380|178011|na|na|na
TYPE: g
PROT: AAA51574|178012|1
ACCNUM: M77381|178013|na|na|na
TYPE: g
PROT: AAA51575|178014|1
ACCNUM: X54017|35582|na|na|na
TYPE: g
PROT: CAA37964|1216165|1
ACCNUM: X66188|1208915|na|na|na
TYPE: g
PROT: CAA46956|2654277|1
ACCNUM: CR456366|47678262|na|na|na
TYPE: m
PROT: CAG30252|47678263|1
ACCNUM: Y00970|28325|na|na|na
TYPE: m
PROT: CAA68784|28326|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P10323|113208|0
OFFICIAL_SYMBOL: ACR
OFFICIAL_GENE_NAME: acrosin
PREFERRED_PRODUCT: acrosin precursor
SUMMARY: Summary: Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids.
CHR: 22
STS: RH38881|-|92611|na|na|epcr
COMP: 855|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A49[id]+AND+gene[obj_type]&QSTR=acr&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: proacrosin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183088
UNIGENE: Hs.183088
OMIM: 102480
ECNUM: 3.4.21.10
MAP: 22q13-qter|HUGO|C|22q13.33|RefSeq|C|
MAPLINK: default_human_gene|ACR
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=49
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=49[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119645
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001097
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001097
PMID: 2606479,2493394,2298447,2114285,1937464,1783391
GO: molecular function|acrosin activity|TAS|GO:0004284|GOA|1783391
GO: biological process|acrosome reaction|TAS|GO:0007340|GOA|1783391
GO: molecular function|chymotrypsin activity|IEA|GO:0004263|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|proteolysis and peptidolysis|IEA|GO:0006508|GOA|na
GO: molecular function|trypsin activity|IEA|GO:0004295|GOA|na
>>50
LOCUSID: 50
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001098|46411160|na
NP: NP_001089|4501867
CDD: COG1048: Aconitase A [Energy production and conversion]|10774|1670|na|6.473630e+02
CDD: KOG0453: Aconitase/homoaconitase (aconitase superfamily) [Energy production and conversion, Amino acid transport and metabolism]|18249|3306|na|1.277610e+03
PRODUCT: aconitase 2 precursor
ASSEMBLY: AA724140,BC014092,BC026196
CONTIG: NT_011520.9|29807292|na|21174185|21233778|+|22|reference
EVID: supported by alignment with mRNA
XM: NM_001098|46411160|na
XP: NP_001089|4501867|na
ACCNUM: U87926|3366605|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87927|3366606|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87928|3366607|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87929|3366608|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87930|3366609|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87931|3366610|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87932|3366611|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87933|3366612|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87934|3366613|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87935|3366614|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87936|3366615|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87937|3366616|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87938|3366617|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: U87939|3366618|na|na|na
TYPE: g
PROT: AAC39921|3366620|1
ACCNUM: AA724140|2741847|na|na|na
TYPE: m
ACCNUM: BC014092|40225942|na|na|na
TYPE: m
PROT: AAH14092|15559448|1
ACCNUM: BC026196|34785009|na|na|na
TYPE: m
PROT: AAH26196|20072188|1
ACCNUM: CR456365|47678260|na|na|na
TYPE: m
PROT: CAG30251|47678261|1
ACCNUM: CR536568|49168619|na|na|na
TYPE: m
PROT: CAG38805|49168620|1
ACCNUM: U80040|1718501|na|na|na
TYPE: m
PROT: AAB38416|1718502|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q99798|6686275|0
OFFICIAL_SYMBOL: ACO2
OFFICIAL_GENE_NAME: aconitase 2, mitochondrial
ALIAS_SYMBOL: MGC20605
ALIAS_SYMBOL: MGC33908
PREFERRED_PRODUCT: aconitase 2 precursor
SUMMARY: Summary: The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification.
CHR: 22
STS: D22S1253|22|2853|D22S1253|seq_map|epcr
STS: D22S998E|-|28909|D22S998E|na|epcr
STS: RH48483|22|73004|na|na|epcr
STS: RH11189|22|92335|na|seq_map|epcr
STS: GDB:451682|-|157344|na|na|epcr
COMP: 856|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A50[id]+AND+gene[obj_type]&QSTR=aco2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aconitate hydratase
ALIAS_PROT: citrate hydro-lyase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=300463
UNIGENE: Hs.300463
OMIM: 100850
ECNUM: 4.2.1.3
MAP: 22q11.2-q13.31|HUGO|C|22q13.2-q13.31|RefSeq|C|
MAPLINK: default_human_gene|ACO2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=50
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=50[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118961
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001098
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001098
DB_DESCR: KEGG pathway: Citrate cycle (TCA cycle)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00020+50
DB_DESCR: KEGG pathway: Glyoxylate and dicarboxylate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00630+50
DB_DESCR: KEGG pathway: Reductive carboxylate cycle (CO2 fixation)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00720+50
PMID: 14972331,12746427,12477932,12198491,11258795,10591208,9630632,9020582,8443405,7192199,1052766,879710,752479,752478,752476
GO: molecular function|aconitate hydratase activity|NR|GO:0003994|GOA|na
GO: biological process|citrate metabolism|TAS|GO:0006101|GOA|9630632
GO: biological process|energy pathways|TAS|GO:0006091|GOA|9630632
GO: molecular function|iron ion binding|TAS|GO:0005506|GOA|9630632
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: cellular component|mitochondrion|TAS|GO:0005739|GOA|9630632
GO: biological process|tricarboxylic acid cycle|IEA|GO:0006099|GOA|na
>>51
LOCUSID: 51
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004035|34304338|na
NP: NP_004026|30089972
CDD: pfam01756: Acyl-CoA oxidase|8122|400|na|1.580550e+02
CDD: COG1960: Acyl-CoA dehydrogenases [Lipid metabolism]|11668|224|na|9.060670e+01
CDD: KOG0136: Acyl-CoA oxidase [Lipid transport and metabolism]|17933|2579|na|9.974620e+02
PRODUCT: acyl-Coenzyme A oxidase isoform a
TRANSVAR: Transcript Variant: Variant 1 utilizes exon 3II; the proteins specified by transcript variants 1 and 2 are identical except for the region specified by the alternate exon 3.
ASSEMBLY: AH000843,BC008767
NM: NM_007292|34304339|na
NP: NP_009223|30089974
CDD: pfam01756: Acyl-CoA oxidase|8122|401|na|1.584400e+02
CDD: COG1960: Acyl-CoA dehydrogenases [Lipid metabolism]|11668|219|na|8.868070e+01
CDD: KOG0136: Acyl-CoA oxidase [Lipid transport and metabolism]|17933|2612|na|1.010170e+03
PRODUCT: acyl-Coenzyme A oxidase isoform b
TRANSVAR: Transcript Variant: Variant 2 utilizes exon 3I; the proteins specified by transcript variants 1 and 2 are identical except for the region specified by the alternate exon 3.
ASSEMBLY: AH000843,BC008767
CONTIG: NT_010641.14|37542591|na|7833823|7867586|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_004035|34304338|na
XP: NP_004026|30089972|na
EVID: supported by alignment with mRNA
XM: NM_007292|34304339|na
XP: NP_009223|30089974|na
ACCNUM: U03254|458103|na|na|na
TYPE: g
PROT: AAA19114|458120|1
ACCNUM: U03268|458117|na|na|na
TYPE: g
PROT: AAA19113|458119|1
PROT: AAA19114|458120|1
ACCNUM: BC008767|33870541|na|na|na
TYPE: m
PROT: AAH08767|14250616|1
ACCNUM: BC010425|14714577|na|na|na
TYPE: m
PROT: AAH10425|14714578|1
ACCNUM: BX537380|31873261|na|na|na
TYPE: m
PROT: CAD97622|31873262|1
ACCNUM: S69189|545593|na|na|na
TYPE: m
PROT: AAB30019|7689914|2
ACCNUM: U07866|495474|na|na|na
TYPE: m
PROT: AAA18595|495475|1
ACCNUM: X71440|535031|na|na|na
TYPE: m
PROT: CAA50574|535032|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q15067|17380467|0
OFFICIAL_SYMBOL: ACOX1
OFFICIAL_GENE_NAME: acyl-Coenzyme A oxidase 1, palmitoyl
ALIAS_SYMBOL: ACOX
ALIAS_SYMBOL: MGC1198
ALIAS_SYMBOL: PALMCOX
PREFERRED_PRODUCT: acyl-Coenzyme A oxidase isoform a
PREFERRED_PRODUCT: acyl-Coenzyme A oxidase isoform b
SUMMARY: Summary: The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. ACOX1 donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in the ACOX1 gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids.
CHR: 17
STS: SHGC-30509|17|4779|na|seq_map|epcr
STS: RH16305|-|48973|na|na|epcr
STS: RH16429|-|59805|na|na|epcr
STS: SHGC-34016|-|60779|na|na|epcr
STS: G20374|17|61371|na|seq_map|epcr
STS: A005O17|17|61372|na|seq_map|epcr
STS: G60178|-|137437|na|na|epcr
STS: GDB:574056|-|157791|na|na|epcr
STS: GDB:574064|-|157795|na|na|epcr
COMP: 2613|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A51[id]+AND+gene[obj_type]&QSTR=acox1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: acyl-coenzyme A oxidase 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=379991
UNIGENE: Hs.379991
OMIM: 264470
ECNUM: 1.3.3.6
MAP: 17q24-q25|HUGO|C|17q24-17q25|RefSeq|C|
MAPLINK: default_human_gene|ACOX1
PHENOTYPE: Adrenoleukodystrophy, pseudoneonatal
PHENOTYPE_ID: 264470
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=51
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=51[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:282672
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007292
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007292
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=264470
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+51
PMID: 12477932,8798738,8159712,8117268,8040306,7876265,7668838
GO: molecular function|acyl-CoA oxidase activity|NAS|GO:0003997|GOA|7876265
GO: molecular function|electron donor activity|NR|GO:0009053|GOA|na
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|energy pathways|TAS|GO:0006091|GOA|8159712
GO: biological process|fatty acid beta-oxidation|IEA|GO:0006635|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: cellular component|peroxisome|NAS|GO:0005777|GOA|7876265
GO: biological process|prostaglandin metabolism|NAS|GO:0006693|GOA|7876265
>>52
LOCUSID: 52
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004300|30089990|na
NP: NP_004291|4757714
CDD: KOG3217: Protein tyrosine phosphatase [Signal transduction mechanisms]|21002|643|na|2.517800e+02
PRODUCT: acid phosphatase 1 isoform c
TRANSVAR: Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform c, also known as Bf) has a distinct C-terminus and is longer than isoform a.
ASSEMBLY: BI460080,M83653
NM: NM_007099|30090001|na
NP: NP_009030|6005988
CDD: KOG3217: Protein tyrosine phosphatase [Signal transduction mechanisms]|21002|656|na|2.567880e+02
PRODUCT: acid phosphatase 1 isoform b
TRANSVAR: Transcript Variant: This variant (2) lacks a segment in the coding region, which leads to a frameshift, compared to variant 1. The resulting protein (isoform b, also known as Bs) has a distinct C-terminus and is longer than isoform a.
ASSEMBLY: BC007422,BI460080,M83653
NM: NM_177554|30090002|na
NP: NP_808222|30090003
CDD: KOG3217: Protein tyrosine phosphatase [Signal transduction mechanisms]|21002|220|na|8.884090e+01
PRODUCT: acid phosphatase 1 isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the longest transcript but encodes the shortest isoform (a).
ASSEMBLY: BI460080,M83653,Y16846
CONTIG: NT_022327.13|37547164|na|254896|268283|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_004300|30089990|na
XP: NP_004291|4757714|na
EVID: supported by alignment with mRNA
XM: NM_007099|30090001|na
XP: NP_009030|6005988|na
EVID: supported by alignment with mRNA
XM: NM_177554|30090002|na
XP: NP_808222|30090003|na
ACCNUM: L06508|178004|na|na|na
TYPE: g
PROT: AAB59628|505334|1
ACCNUM: U25847|1147808|na|na|na
TYPE: g
PROT: AAC52067|1147812|1
ACCNUM: U25849|1147810|na|na|na
TYPE: g
PROT: AAC52067|1147812|1
ACCNUM: BC007422|38114712|na|na|na
TYPE: m
PROT: AAH07422|13938545|1
ACCNUM: BC020699|18088801|na|na|na
TYPE: m
PROT: AAH20699|18088802|1
ACCNUM: BI460080|15250736|na|na|na
TYPE: m
ACCNUM: M83653|179635|na|na|na
TYPE: m
PROT: AAB59354|179636|1
ACCNUM: M83654|179660|na|na|na
TYPE: m
PROT: AAB59355|179661|1
ACCNUM: M87545|177938|na|na|na
TYPE: m
ACCNUM: M87546|177939|na|na|na
TYPE: m
ACCNUM: S62884|386133|na|na|na
TYPE: m
PROT: AAB27085|386134|1
ACCNUM: S62885|386135|na|na|na
TYPE: m
PROT: AAB27086|386136|1
ACCNUM: Y16846|3228234|na|na|na
TYPE: m
PROT: CAA76416|3228235|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P24666|1709543|0
PROT: P24667|1709544|0
OFFICIAL_SYMBOL: ACP1
OFFICIAL_GENE_NAME: acid phosphatase 1, soluble
ALIAS_SYMBOL: HAAP
ALIAS_SYMBOL: MGC3499
PREFERRED_PRODUCT: acid phosphatase 1 isoform a
PREFERRED_PRODUCT: acid phosphatase 1 isoform b
PREFERRED_PRODUCT: acid phosphatase 1 isoform c
SUMMARY: Summary: The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Three transcript variants encoding distinct isoforms have been identified for this gene.
CHR: 2
STS: RH67995|2|64880|na|seq_map|epcr
STS: RH1485|2|67898|na|seq_map|epcr
STS: RH69188|2|86829|na|seq_map|epcr
STS: RH65054|2|91295|na|seq_map|epcr
ALIAS_PROT: adipocyte acid phosphatase
ALIAS_PROT: red cell acid phosphatase 1
ALIAS_PROT: protein tyrosine phosphatase
ALIAS_PROT: acid phosphatase of erythrocyte
ALIAS_PROT: cytoplasmic phosphotyrosyl protein phosphatase
ALIAS_PROT: low molecular weight phosphotyrosine protein phosphatase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=130873
UNIGENE: Hs.130873
OMIM: 171500
ECNUM: 3.1.3.2
ECNUM: 3.1.3.48
MAP: 2p25|HUGO|C|
MAPLINK: default_human_gene|ACP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=52
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=52[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118962
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_177554
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_177554
DB_DESCR: KEGG pathway: Riboflavin metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00740+52
DB_DESCR: KEGG pathway: Phosphatidylinositol signaling system
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04070+52
DB_DESCR: KEGG pathway: gamma-Hexachlorocyclohexane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00361+52
PMID: 14637146,12942785,12815062,12640337,12477932,12100313,9684876,8586411,8364553,1939112,1627603,1587862,1304913,736044,457131
GO: molecular function|acid phosphatase activity|TAS|GO:0003993|GOA|1587862
GO: cellular component|cytoplasm|NR|GO:0005737|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|non-membrane spanning protein tyrosine phosphatase activity|IEA|GO:0004726|GOA|na
GO: biological process|protein amino acid dephosphorylation|IEA|GO:0006470|GOA|na
GO: molecular function|protein tyrosine phosphatase activity|IEA|GO:0004725|GOA|na
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|1587862
>>53
LOCUSID: 53
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001610|4557009|na
NP: NP_001601|4557010
CDD: KOG3720: Lysosomal & prostatic acid phosphatases [Lipid transport and metabolism]|21499|986|na|3.840360e+02
PRODUCT: lysosomal acid phosphatase 2 precursor
ASSEMBLY: X15525
CONTIG: NT_009237.16|37541814|na|46024793|46034303|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_001610|4557009|na
XP: NP_001601|4557010|na
ACCNUM: X15525|34239|na|na|na
TYPE: g
PROT: CAA33542|1199524|1
ACCNUM: AY007137|9956041|na|na|na
TYPE: m
ACCNUM: BC003160|13111974|na|na|na
TYPE: m
PROT: AAH03160|13111975|1
ACCNUM: X12548|34262|na|na|na
TYPE: m
PROT: CAA31064|34263|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P11117|32700070|0
OFFICIAL_SYMBOL: ACP2
OFFICIAL_GENE_NAME: acid phosphatase 2, lysosomal
PREFERRED_PRODUCT: lysosomal acid phosphatase 2 precursor
SUMMARY: Summary: Lysosomal acid phosphatase is comprised of two subunits, alpha and beta, and is chemically and genetically distinct from red cell acid phosphatase. Lysosomal acid phosphatase 2 is a member of a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Acid phosphatase deficiency is caused by mutations in the ACP2 (beta subunit) and ACP3 (alpha subunit) genes.
CHR: 11
STS: RH79156|11|50847|na|seq_map|epcr
STS: RH27367|11|87734|na|seq_map|epcr
STS: G54107|11|109344|na|seq_map|epcr
STS: GDB:197878|11|155983|na|seq_map|epcr
COMP: 1217|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A53[id]+AND+gene[obj_type]&QSTR=acp2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75589
UNIGENE: Hs.75589
OMIM: 171650
ECNUM: 3.1.3.2
MAP: 11p11.2-p11.11|RefSeq|C|11p12-p11|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171650">OMIM</a>|C|
MAPLINK: default_human_gene|ACP2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=53
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=53[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118963
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001610
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001610
DB_DESCR: KEGG pathway: Riboflavin metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00740+53
DB_DESCR: KEGG pathway: gamma-Hexachlorocyclohexane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00361+53
DB_DESCR: PharmGKB: PA24447
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24447
PMID: 12477932,9110174,8619474,7576159,3191910,2776754,730175
GO: molecular function|acid phosphatase activity|TAS|GO:0003993|GOA|3191910
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to membrane|TAS|GO:0016021|GOA|2776754
GO: cellular component|lysosomal membrane|NR|GO:0005765|GOA|na
>>54
LOCUSID: 54
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001611|6138970|na
NP: NP_001602|4501873
CDD: KOG2679: Purple (tartrate-resistant) acid phosphatase [Posttranslational modification, protein turnover, chaperones]|20465|1042|na|4.055000e+02
PRODUCT: tartrate resistant acid phosphatase 5 precursor
ASSEMBLY: X14618,X67123
CONTIG: NT_011295.10|29801560|na|2948279|2951298|-|19|reference
EVID: supported by alignment with mRNA
XM: NM_001611|6138970|na
XP: NP_001602|4501873|na
ACCNUM: X67123|37268|na|na|na
TYPE: g
ACCNUM: BC025414|33869890|na|na|na
TYPE: m
PROT: AAH25414|19343539|1
ACCNUM: CR457078|48146272|na|na|na
TYPE: m
PROT: CAG33359|48146273|1
ACCNUM: J04430|178005|na|na|na
TYPE: m
PROT: AAA76849|178006|1
ACCNUM: X14618|34733|na|na|na
TYPE: m
PROT: CAA32771|34734|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P13686|130722|0
OFFICIAL_SYMBOL: ACP5
OFFICIAL_GENE_NAME: acid phosphatase 5, tartrate resistant
ALIAS_SYMBOL: TRAP
PREFERRED_PRODUCT: tartrate resistant acid phosphatase 5 precursor
SUMMARY: Summary: Acid phosphatase 5 is an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate.  ACP5 is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate.
CHR: 19
STS: G06617|19|30801|na|seq_map|epcr
STS: G10515|19|53560|na|seq_map|epcr
COMP: 1218|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A54[id]+AND+gene[obj_type]&QSTR=acp5&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1211
UNIGENE: Hs.1211
OMIM: 171640
ECNUM: 3.1.3.2
MAP: 19p13.3-p13.2|HUGO|C|
MAPLINK: default_human_gene|ACP5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=54
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=54[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118747
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001611
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001611
DB_DESCR: KEGG pathway: Riboflavin metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00740+54
DB_DESCR: KEGG pathway: gamma-Hexachlorocyclohexane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00361+54
PMID: 12901871,12845688,12820342,12589973,12477932,12073156,11983200,8449511,8359686,8188227,2909539,2473026,2338077
GO: molecular function|acid phosphatase activity|TAS|GO:0003993|GOA|8359686
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to membrane|TAS|GO:0016021|GOA|2338077
GO: cellular component|lysosome|IEA|GO:0005764|GOA|na
>>55
LOCUSID: 55
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001099|6382063|na
NP: NP_001090|6382064
CDD: pfam00328: Histidine acid phosphatase|7564|869|na|3.388640e+02
PRODUCT: prostatic acid phosphatase precursor
ASSEMBLY: AH002924,M34840
CONTIG: NT_005612.14|37550867|na|38531413|38572758|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_001099|6382063|na
XP: NP_001090|6382064|na
ACCNUM: M97589|189611|na|na|na
TYPE: g
PROT: AAA60021|189613|1
ACCNUM: U07086|515984|na|na|na
TYPE: g
PROT: AAB60640|515997|1
ACCNUM: U07097|515995|na|na|na
TYPE: g
PROT: AAB60640|515997|1
ACCNUM: BC007460|13938614|na|na|na
TYPE: m
PROT: AAH07460|13938615|1
ACCNUM: BC008493|14250149|na|na|na
TYPE: m
PROT: AAH08493|14250150|1
ACCNUM: BC016344|16740982|na|na|na
TYPE: m
PROT: AAH16344|16740983|1
ACCNUM: BC017877|17389717|na|na|na
TYPE: m
ACCNUM: M24902|189618|na|na|na
TYPE: m
PROT: AAA60022|189619|1
ACCNUM: M34840|189620|na|na|na
TYPE: m
PROT: AAA69694|189621|1
ACCNUM: X52174|28321|na|na|na
TYPE: m
PROT: CAA36422|28322|1
ACCNUM: X53605|35683|na|na|na
TYPE: m
PROT: CAA37673|35684|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P15309|130730|0
OFFICIAL_SYMBOL: ACPP
OFFICIAL_GENE_NAME: acid phosphatase, prostate
ALIAS_SYMBOL: PAP
ALIAS_SYMBOL: ACP3
ALIAS_SYMBOL: ACP-3
PREFERRED_PRODUCT: prostatic acid phosphatase precursor
SUMMARY: Summary: Prostatic acid phosphatase precursor catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate.  ACPP is synthesized under androgen regulation and secreted by the epithelial cells of the prostrate gland.  Sequence comparison has indicated the presence of several polymorphisms.  ACPP undergoes alternative splicing in the 3' UTR.
CHR: 3
STS: STS-M24902|3|47449|na|seq_map|epcr
STS: G10726|-|61382|na|na|epcr
STS: GDB:180742|-|155117|na|na|epcr
STS: GDB:181274|3|155234|na|seq_map|epcr
STS: GDB:455656|3|157467|na|seq_map|epcr
COMP: 20303|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A55[id]+AND+gene[obj_type]&QSTR=acpp&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388677
UNIGENE: Hs.388677
OMIM: 171790
ECNUM: 3.1.3.2
MAP: 3q21-q23|RefSeq|C|
MAPLINK: default_human_gene|ACPP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=55
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=55[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119644
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001099
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001099
DB_DESCR: KEGG pathway: Riboflavin metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00740+55
DB_DESCR: KEGG pathway: gamma-Hexachlorocyclohexane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00361+55
PMID: 15240830,14690244,14623260,12962324,12719131,12477932,12362977,12032838,11833784,10851066,8244395,8132635,7951074,2965059,2842184,2712834,2395659,1989985,1375464
GO: molecular function|acid phosphatase activity|IEA|GO:0003993|GOA|na
GO: cellular component|extracellular|NR|GO:0005576|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|protein tyrosine phosphatase activity|NR|GO:0004725|GOA|na
GO: biological process|regulation of cell cycle|TAS|GO:0000074|GOA|10851066
>>56
LOCUSID: 56
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001612|34328926|na
NP: NP_001603|4501879
CDD: cd00117: Ly-6 antigen / uPA receptor -like domain|14821|104|na|4.433090e+01
PRODUCT: acrosomal vesicle protein 1 isoform a precursor
TRANSVAR: Transcript Variant: This variant (1) represents the full length form of this gene, which encodes 265 aa. All other variants, as compared to this variant, lack one or two in-frame fragments in exons II and/or III.
ASSEMBLY: BC014588,H93373,M82968
NM: NM_020069|34328915|na
NP: NP_064454|9955927
CDD: cd00117: Ly-6 antigen / uPA receptor -like domain|14821|103|na|4.394570e+01
PRODUCT: acrosomal vesicle protein 1 isoform b precursor
TRANSVAR: Transcript Variant: This variant (2) lacks a 57 nt fragment in the 3'-terminus of the exon II, as compared to variant 1. Isoform b encoded by this variant is thus 19 aa shorter than isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82967
NM: NM_020107|34328916|na
NP: NP_064492|9955929
CDD: cd00117: Ly-6 antigen / uPA receptor -like domain|14821|98|na|4.201970e+01
PRODUCT: acrosomal vesicle protein 1 isoform c precursor
TRANSVAR: Transcript Variant: This variant (3) lacks a 165 nt fragment within exon II, which results in 55 aa fewer in isoform c, as compared to isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82968
NM: NM_020108|34328917|na
NP: NP_064493|9955931
CDD: cd00117: Ly-6 antigen / uPA receptor -like domain|14821|95|na|4.086410e+01
PRODUCT: acrosomal vesicle protein 1 isoform d precursor
TRANSVAR: Transcript Variant: This variant (4) lacks a 210 nt fragment in exon II, which results in 70 aa fewer in isoform d, as compared to isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82968
NM: NM_020109|34328918|na
NP: NP_064494|9955933
CDD: cd00117: Ly-6 antigen / uPA receptor -like domain|14821|93|na|4.009370e+01
PRODUCT: acrosomal vesicle protein 1 isoform e precursor
TRANSVAR: Transcript Variant: This variant (5) lacks 2 fragments of 210 and 57 nt within the exon II, as compared to variant 1. Isoform e encoded by this variant is thus 89 aa shorter than isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82967
NM: NM_020110|34328919|na
NP: NP_064495|9955935
CDD: cd00117: Ly-6 antigen / uPA receptor -like domain|14821|79|na|3.470090e+01
PRODUCT: acrosomal vesicle protein 1 isoform j precursor
TRANSVAR: Transcript Variant: This variant (10) lacks a 432 nt fragment at the 3'-terminus of the exon II. The isoform j encoded by this variant is 144 aa shorter than isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82967
NM: NM_020111|34328920|na
NP: NP_064496|9955937
CDD: cd00117: Ly-6 antigen / uPA receptor -like domain|14821|90|na|3.893810e+01
PRODUCT: acrosomal vesicle protein 1 isoform f precursor
TRANSVAR: Transcript Variant: This variant (6) lacks a 285 nt fragment in exon II, as compared to variant 1. Isoform f encoded by this variant is thus 95 aa shorter than isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82968
NM: NM_020113|34328922|na
NP: NP_064498|9955941
PRODUCT: acrosomal vesicle protein 1 isoform h precursor
TRANSVAR: Transcript Variant: This variant (8) lacks a 210 nt fragment within the exon II and the entire exon III consisting of 120 nt, as compared to variant 1. Isoform h encoded by this variant is 110 aa shorter than isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82968
NM: NM_020114|34328923|na
NP: NP_064499|34328924
CDD: cd00117: Ly-6 antigen / uPA receptor -like domain|14821|86|na|3.739730e+01
PRODUCT: acrosomal vesicle protein 1 isoform i precursor
TRANSVAR: Transcript Variant: This variant (9) lacks two fragments of 210 and 135 nt in exon II, as compared to variant 1. Isoform i encoded by this variant is 80 aa shorter than isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82968
NM: NM_020115|34328925|na
NP: NP_064500|9955945
PRODUCT: acrosomal vesicle protein 1 isoform k precursor
TRANSVAR: Transcript Variant: This variant (11) lacks a 552 nt fragment including part of the exon II and the entire exon III, as compared to variant 1. Isoform k encoded by this variant is 184 aa shorter than isoform a encoded by variant 1.
ASSEMBLY: BC014588,H93373,M82968
CONTIG: NT_033899.6|37540935|na|29086016|29094729|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_001612|34328926|na
XP: NP_001603|4501879|na
EVID: supported by alignment with mRNA
XM: NM_020069|34328915|na
XP: NP_064454|9955927|na
EVID: supported by alignment with mRNA
XM: NM_020107|34328916|na
XP: NP_064492|9955929|na
EVID: supported by alignment with mRNA
XM: NM_020108|34328917|na
XP: NP_064493|9955931|na
EVID: supported by alignment with mRNA
XM: NM_020109|34328918|na
XP: NP_064494|9955933|na
EVID: supported by alignment with mRNA
XM: NM_020110|34328919|na
XP: NP_064495|9955935|na
EVID: supported by alignment with mRNA
XM: NM_020111|34328920|na
XP: NP_064496|9955937|na
EVID: supported by alignment with mRNA
XM: NM_020113|34328922|na
XP: NP_064498|9955941|na
EVID: supported by alignment with mRNA
XM: NM_020114|34328923|na
XP: NP_064499|34328924|na
EVID: supported by alignment with mRNA
XM: NM_020115|34328925|na
XP: NP_064500|9955945|na
ACCNUM: S65576|415547|na|na|na
TYPE: g
PROT: AAB28238|7705047|2
ACCNUM: S65578|415548|na|na|na
TYPE: g
PROT: AAB28238|7705047|2
ACCNUM: S65583|415549|na|na|na
TYPE: g
PROT: AAB28238|7705047|2
ACCNUM: S65606|415546|na|na|na
TYPE: g
PROT: AAB28238|7705047|2
ACCNUM: BC014588|34194191|na|na|na
TYPE: m
PROT: AAH14588|15779024|1
ACCNUM: H93373|1099701|na|na|na
TYPE: m
ACCNUM: M82967|338291|na|na|na
TYPE: m
PROT: AAA36625|338292|1
ACCNUM: M82968|338293|na|na|na
TYPE: m
PROT: AAA36626|338294|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P26436|1351991|0
OFFICIAL_SYMBOL: ACRV1
OFFICIAL_GENE_NAME: acrosomal vesicle protein 1
ALIAS_SYMBOL: SPACA2
ALIAS_SYMBOL: D11S4365
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform a precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform b precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform c precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform d precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform e precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform f precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform h precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform i precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform j precursor
PREFERRED_PRODUCT: acrosomal vesicle protein 1 isoform k precursor
SUMMARY: Summary: This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. This gene consists of 4 exons and its alternative splicing generates 11 distinct transcripts, which encode protein isoforms ranging from 81 to 265 amino acids. The longest transcript is the most abundant, comprising 53-72% of the total acrosomal vesicle protein 1 messages; the second largest transcript comprises 15-32%; the third and the fourth largest transcripts account for 3.4-8.3% and 8.7-12.5%, respectively; and the remaining 7 transcripts combined account for < 1% of the total acrosomal vesicle protein 1 message. It is suggested that phenomena of cryptic splicing and exon skipping occur within this gene. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration, and it is a potential contraceptive vaccine immunogen for humans.
CHR: 11
STS: WI-7841|11|40436|na|seq_map|epcr
STS: STS-H93373|11|49567|na|seq_map|epcr
STS: RH17743|11|75323|na|seq_map|epcr
COMP: 1219|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A56[id]+AND+gene[obj_type]&QSTR=acrv1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: SP-10
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169222
UNIGENE: Hs.169222
OMIM: 102525
MAP: 11p12-q13|RefSeq|C|
MAPLINK: default_human_gene|ACRV1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=56
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=56[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127969
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001612
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001612
PMID: 12477932,8373955,8288254,7888499,7619499,1693291
GO: biological process|development|TAS|GO:0007275|GOA|1693291
>>57
LOCUSID: 57
CURRENT_LOCUSID: 7291
ORGANISM: Homo sapiens
>>58
LOCUSID: 58
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001100|47078293|na
NP: NP_001091|4501881
CDD: cd00012: Actin|14758|1495|na|5.798710e+02
PRODUCT: alpha 1 actin precursor
ASSEMBLY: AL598491,BC012597,BX648545
CONTIG: NT_004559.11|37548557|na|5729883|5732615|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_001100|47078293|na
XP: NP_001091|4501881|na
ACCNUM: AF182035|6049632|na|na|na
TYPE: g
PROT: AAF02694|6049633|1
ACCNUM: M20543|337745|na|na|na
TYPE: g
PROT: AAA60296|337746|1
ACCNUM: AK096902|21756498|na|na|na
TYPE: m
ACCNUM: AL598491|15161182|na|na|na
TYPE: m
ACCNUM: AY280960|30908858|na|na|na
TYPE: m
PROT: AAP37280|30908859|1
ACCNUM: BC012597|15214922|na|na|na
TYPE: m
PROT: AAH12597|15214923|1
ACCNUM: BX648545|34367707|na|na|na
TYPE: m
ACCNUM: CR536516|49168517|na|na|na
TYPE: m
PROT: CAG38754|49168518|1
ACCNUM: CR541796|49456548|na|na|na
TYPE: m
PROT: CAG46595|49456549|1
ACCNUM: J00068|178028|na|na|na
TYPE: m
PROT: AAB59376|178029|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02568|113287|0
OFFICIAL_SYMBOL: ACTA1
OFFICIAL_GENE_NAME: actin, alpha 1, skeletal muscle
ALIAS_SYMBOL: ACTA
ALIAS_SYMBOL: ASMA
ALIAS_SYMBOL: NEM1
ALIAS_SYMBOL: NEM2
PREFERRED_PRODUCT: alpha 1 actin precursor
SUMMARY: Summary: Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms which have been identified. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus.
CHR: 1
STS: RH36158|1|78325|na|seq_map|epcr
COMP: 20304|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A58[id]+AND+gene[obj_type]&QSTR=acta1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: alpha skeletal muscle actin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1288
UNIGENE: Hs.1288
OMIM: 102610
MAP: 1q42.13-q42.2|RefSeq|C|
MAPLINK: default_human_gene|ACTA1
PHENOTYPE: Myopathy, actin
PHENOTYPE_ID: 102610
PHENOTYPE: Myopathy, nemaline, 161800
PHENOTYPE_ID: 256030
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=58
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=58[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120535
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001100
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001100
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=102610
PMID: 15072110,14702039,14684598,12477932,10508519,10072583,8422497,8258301,7780165,6865942,6190133,3842206,2907503
GO: cellular component|actin filament|IEA|GO:0005884|GOA|na
GO: molecular function|motor activity|IEA|GO:0003774|GOA|na
GO: biological process|muscle contraction|TAS|GO:0006936|GOA|10508519
GO: biological process|muscle development|IEA|GO:0007517|GOA|na
GO: molecular function|structural constituent of cytoskeleton|TAS|GO:0005200|GOA|10508519
>>59
LOCUSID: 59
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001613|4501882|na
NP: NP_001604|4501883
CDD: KOG0676: Actin and related proteins [Cytoskeleton]|18470|1681|na|6.516180e+02
PRODUCT: alpha 2 actin
ASSEMBLY: X13839
CONTIG: NT_030059.11|37550928|na|9443347|9461027|-|10|reference
EVID: supported by alignment with mRNA
XM: NM_001613|4501882|na
XP: NP_001604|4501883|na
ACCNUM: D00618|219417|na|na|na
TYPE: g
PROT: BAA00492|4433118|1
ACCNUM: K01741|178059|na|na|na
TYPE: g
PROT: AAA51586|178067|1
ACCNUM: K01742|178060|na|na|na
TYPE: g
PROT: AAA51586|178067|1
ACCNUM: K01743|178061|na|na|na
TYPE: g
PROT: AAA51586|178067|1
ACCNUM: K01744|178062|na|na|na
TYPE: g
PROT: AAA51586|178067|1
ACCNUM: K01745|178063|na|na|na
TYPE: g
PROT: AAA51586|178067|1
ACCNUM: K01746|178064|na|na|na
TYPE: g
PROT: AAA51586|178067|1
ACCNUM: K01747|178065|na|na|na
TYPE: g
PROT: AAA51586|178067|1
ACCNUM: M33216|338234|na|na|na
TYPE: g
PROT: AAA60560|338235|1
ACCNUM: BC017554|34189298|na|na|na
TYPE: m
PROT: AAH17554|17028467|1
ACCNUM: CR536518|49168521|na|na|na
TYPE: m
PROT: CAG38756|49168522|1
ACCNUM: J05192|178026|na|na|na
TYPE: m
PROT: AAA51577|178027|1
ACCNUM: X13839|28329|na|na|na
TYPE: m
PROT: CAA32064|28330|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P03996|113266|0
OFFICIAL_SYMBOL: ACTA2
OFFICIAL_GENE_NAME: actin, alpha 2, smooth muscle, aorta
ALIAS_SYMBOL: ACTSA
PREFERRED_PRODUCT: alpha 2 actin
SUMMARY: Summary:  Actin alpha 2, the human aortic smooth muscle actin gene, is one of six different actin isoforms which have been identified.  Actins are highly conserved proteins that are involved in cell motility, structure and integrity.  Alpha actins are a major constituent of the contractile apparatus.
CHR: 10
STS: RH44176|10|15508|na|seq_map|epcr
STS: D10S2177|10|49670|D10S2177|seq_map|epcr
STS: GDB:193816|-|155757|na|na|epcr
ALIAS_PROT: alpha-cardiac actin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=208641
UNIGENE: Hs.208641
OMIM: 102620
MAP: 10q23.3|RefSeq|C|
MAPLINK: default_human_gene|ACTA2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=59
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=59[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125197
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001613
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001613
PMID: 12477932,9546431,7780165,6330528,3842206,2701935,2612915,2398629,2295650,2022339,1969628,1555776
GO: cellular component|actin filament|IEA|GO:0005884|GOA|na
GO: molecular function|motor activity|IEA|GO:0003774|GOA|na
GO: biological process|muscle development|NAS|GO:0007517|GOA|na
GO: cellular component|striated muscle thin filament|NAS|GO:0005865|GOA|na
GO: molecular function|structural constituent of cytoskeleton|IEA|GO:0005200|GOA|na
GO: molecular function|structural constituent of muscle|NAS|GO:0008307|GOA|na
>>60
LOCUSID: 60
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001101|5016088|na
NP: NP_001092|4501885
CDD: KOG0676: Actin and related proteins [Cytoskeleton]|18470|1722|na|6.674110e+02
PRODUCT: beta actin
ASSEMBLY: X00351,X63432
CONTIG: NT_007819.14|37538470|na|4862460|4865895|-|7|reference
EVID: supported by alignment with mRNA
XM: NM_001101|5016088|na
XP: NP_001092|4501885|na
CONTIG: NT_079592.1|37538986|na|4923834|4927269|-|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001101|5016088|na
XP: NP_001092|4501885|na
ACCNUM: M10277|177967|na|na|na
TYPE: g
PROT: AAA51567|177968|1
ACCNUM: AK025375|10437878|na|na|na
TYPE: m
ACCNUM: AK058019|16554019|na|na|na
TYPE: m
ACCNUM: AK098751|21758861|na|na|na
TYPE: m
ACCNUM: AK125561|34531695|na|na|na
TYPE: m
ACCNUM: AK130062|34526800|na|na|na
TYPE: m
ACCNUM: AK130157|34526902|na|na|na
TYPE: m
ACCNUM: BC001301|12654910|na|na|na
TYPE: m
PROT: AAH01301|12654911|1
ACCNUM: BC002409|33988640|na|na|na
TYPE: m
PROT: AAH02409|12803203|1
ACCNUM: BC004251|13279022|na|na|na
TYPE: m
PROT: AAH04251|13279023|1
ACCNUM: BC008633|14250400|na|na|na
TYPE: m
PROT: AAH08633|14250401|1
ACCNUM: BC009636|16307104|na|na|na
TYPE: m
ACCNUM: BC012854|15277502|na|na|na
TYPE: m
PROT: AAH12854|15277503|1
ACCNUM: BC013380|33878222|na|na|na
TYPE: m
PROT: AAH13380|15426536|1
ACCNUM: BC013835|15426604|na|na|na
TYPE: m
ACCNUM: BC014401|15680122|na|na|na
TYPE: m
ACCNUM: BC014861|15928802|na|na|na
TYPE: m
PROT: AAH14861|15928803|1
ACCNUM: BC016045|16359157|na|na|na
TYPE: m
PROT: AAH16045|16359158|1
ACCNUM: BC023204|18490093|na|na|na
TYPE: m
ACCNUM: BC053988|32449738|na|na|na
TYPE: m
ACCNUM: K00790|178031|na|na|na
TYPE: m
PROT: AAA51578|178032|1
ACCNUM: X00351|28251|na|na|na
TYPE: m
PROT: CAA25099|28252|1
ACCNUM: X63432|28335|na|na|na
TYPE: m
PROT: CAA45026|28336|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02570|113270|0
OFFICIAL_SYMBOL: ACTB
OFFICIAL_GENE_NAME: actin, beta
PREFERRED_PRODUCT: beta actin
SUMMARY: Summary:  Beta actin is one of six different actin isoforms which have been identified.  ACTB is one of the two nonmuscle cytoskeletal actins.  Actins are highly conserved proteins that are involved in cell motility, structure and integrity.  Alpha actins are a major constituent of the contractile apparatus.
CHR: 7
STS: G15871|-|6889|na|na|epcr
STS: G49387|-|109142|na|na|epcr
STS: GDB:624560|-|158349|na|na|epcr
STS: ACTB-L|38|261993|na|na|epcr
STS: PMC109445P1|-|270169|na|na|epcr
STS: PMC109689P1|-|270178|na|na|epcr
STS: PMC110143P1|-|270184|na|na|epcr
STS: PMC110200P1|-|270185|na|na|epcr
STS: PMC117352P1|-|270329|na|na|epcr
STS: PMC133768P1|-|270660|na|na|epcr
STS: PMC151001P2|-|271130|na|na|epcr
STS: PMC151817P1|-|271183|na|na|epcr
STS: PMC152551P1|-|271229|na|na|epcr
STS: PMC22644P1|-|272120|na|na|epcr
STS: PMC24942P1|-|272277|na|na|epcr
STS: PMC275467P1|-|272382|na|na|epcr
ALIAS_PROT: beta cytoskeletal actin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=426930
UNIGENE: Hs.426930
OMIM: 102630
MAP: 7p15-p12|HUGO|C|
MAPLINK: default_human_gene|ACTB
REL2: 155030|NP_579881|nucleocapsid|binds|NP_001092|beta actin|Mature HIV-1 Nucleocapsid, as well as the nucleocapsid domain of the HIV-1 Gag polyprotein, binds filamentous actin resulting in incorporation of actin into virus particles and enhancement of cell motility|12009869,11709093,10074138,10049817,9971772,8892894,8661406
REL2: 155908|NP_057854|Rev, p19|associates with|NP_001092|beta actin|Rev plays an important role in the compartmentation of translation by directing RRE-containing mRNAs to the beta-actin to form the perinuclear clusters at which the synthesis of viral structural proteins begins|9150887
REL2: 155908|NP_057854|Rev, p19|associates with|NP_001092|beta actin|during Rev-mediated nuclear export of HIV-1 mRNA, actin binds to eukaryotic initiation factor 5A (eIF-5A), a protein that interacts directly with Rev and facilitates the nuclear export process|11238447
REL2: 155908|NP_057854|Rev, p19|associates with|NP_001092|beta actin|beta actin is involved in the Rev-dependent nuclear export of unspliced and incompletely spliced HIV-1 mRNA|11238447,10792467
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=60
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=60[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118964
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001101
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001101
PMID: 15111311,14702039,12477932,12009869,11787062,11709093,11238447,10792467,10074138,10049817,9971772,9150887,8892894,8661406,6865942,6322116,6202424,3842206,2994062,1734024,1555776,1505215,274701
>>61
LOCUSID: 61
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTBP1
OFFICIAL_GENE_NAME: actin, beta pseudogene 1
CHR: X
MAP: Xq13-q22|HUGO|C|
MAPLINK: default_human_cyto|ACTBP1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118965
PMID: 3837182
>>62
LOCUSID: 62
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_003019|34328084|na|1|1980
CONTIG: NT_006713.13|29799535|na|6472774|6474553|+|5|reference
EVID: alignment with NG_003019
XG: NG_003019|34328084|na
ACCNUM: AC035147|15451702|na|57376|55597
TYPE: g
OFFICIAL_SYMBOL: ACTBP2
OFFICIAL_GENE_NAME: actin, beta pseudogene 2
CHR: 5
MAP: 5q14.1|RefSeq|C|
MAPLINK: default_human_gene|ACTBP2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=62
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118966
PMID: 6571702,3837182
>>63
LOCUSID: 63
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTBP3
OFFICIAL_GENE_NAME: actin, beta pseudogene 3
CHR: 18
MAP: 18|RefSeq|C|
MAPLINK: default_human_cyto|ACTBP3
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118967
>>64
LOCUSID: 64
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_003020|34328090|na|1|1942
CONTIG: NT_034772.5|37550270|na|33409150|33410891|-|5|na
EVID: alignment with NG_003020
XG: NG_003020|34328090|na
ACCNUM: AC008695|14329060|na|83890|82149
TYPE: g
OFFICIAL_SYMBOL: ACTBP4
OFFICIAL_GENE_NAME: actin, beta pseudogene 4
CHR: 5
MAP: 5q31.1|RefSeq|C|
MAPLINK: default_human_gene|ACTBP4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=64
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118968
>>65
LOCUSID: 65
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTBP5
OFFICIAL_GENE_NAME: actin, beta pseudogene 5
CHR: 7
MAP: 7q22-qter|HUGO|C|
MAPLINK: default_human_cyto|ACTBP5
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118969
PMID: 3837182
>>66
LOCUSID: 66
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTBP6
OFFICIAL_GENE_NAME: actin, beta pseudogene 6
CHR: 8
MAP: 8|RefSeq|C|
MAPLINK: default_human_cyto|ACTBP6
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119646
>>67
LOCUSID: 67
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_002724|30089684|na|1|1321
CONTIG: NT_010194.16|37540936|na|15071819|15072939|-|15|na
EVID: alignment with NG_002724
XG: NG_002724|30089684|na
ACCNUM: V00479|28246|na|420|1540
TYPE: g
OFFICIAL_SYMBOL: ACTBP7
OFFICIAL_GENE_NAME: actin, beta pseudogene 7
CHR: 15
MAP: 15q15.1|RefSeq|C|
MAPLINK: default_human_gene|ACTBP7
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=67
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:681516
PMID: 6571702,6296793
>>68
LOCUSID: 68
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000840|20128052|na|1|1861
CONTIG: NT_007299.12|29740881|na|26805650|26807310|-|6|na
EVID: alignment with NG_000840
XG: NG_000840|20128052|na
ACCNUM: AL139042|12578155|na|4142|2482
TYPE: g
ACCNUM: V00481|28248|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ACTBP8
OFFICIAL_GENE_NAME: actin, beta pseudogene 8
ALIAS_SYMBOL: ACTBP2
CHR: 6
STS: GDB:185264|-|155443|na|na|epcr
STS: GDB:185752|-|155461|na|na|epcr
MAP: 6q13|RefSeq|C|
MAPLINK: default_human_gene|ACTBP8
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=68
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:681514
PMID: 9345905,6571702,6296793,1561114
>>69
LOCUSID: 69
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_003162|40217618|na|1|2006
ACCNUM: D50604|2094759|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ACTBP9
OFFICIAL_GENE_NAME: actin, beta pseudogene 9
CHR: 18
MAP: 18|RefSeq|C|
MAPLINK: default_human_cyto|ACTBP9
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:700051
PMID: 8941379
>>70
LOCUSID: 70
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005159|46411161|na
NP: NP_005150|4885049
CDD: KOG0676: Actin and related proteins [Cytoskeleton]|18470|1678|na|6.504620e+02
PRODUCT: cardiac muscle alpha actin proprotein
ASSEMBLY: BC009978
CONTIG: NT_010194.16|37540936|na|5873010|5877566|-|15|reference
EVID: supported by alignment with mRNA
XM: NM_005159|46411161|na
XP: NP_005150|4885049|na
ACCNUM: J00070|178034|na|na|na
TYPE: g
PROT: AAB59619|178039|1
ACCNUM: J00071|178035|na|na|na
TYPE: g
PROT: AAB59619|178039|1
ACCNUM: J00072|178036|na|na|na
TYPE: g
PROT: AAB59619|178039|1
ACCNUM: J00073|178037|na|na|na
TYPE: g
PROT: AAB59619|178039|1
ACCNUM: AK056592|16552039|na|na|na
TYPE: m
ACCNUM: AK129892|34526591|na|na|na
TYPE: m
ACCNUM: AK129902|34526602|na|na|na
TYPE: m
ACCNUM: BC009978|33873001|na|na|na
TYPE: m
PROT: AAH09978|14602986|1
ACCNUM: CR541795|49456546|na|na|na
TYPE: m
PROT: CAG46594|49456547|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P04270|113272|0
OFFICIAL_SYMBOL: ACTC
OFFICIAL_GENE_NAME: actin, alpha, cardiac muscle
PREFERRED_PRODUCT: cardiac muscle alpha actin proprotein
SUMMARY: Summary: Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC).
CHR: 15
COMP: 21071|15|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=15&MAPS=genes-r-org/rat-chr/human%3A15,genes-r-org/mouse-chr/human%3A15,genes-r-org/human-chr15&query=e%3A70[id]+AND+gene[obj_type]&QSTR=actc&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: smooth muscle actin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=118127
UNIGENE: Hs.118127
OMIM: 102540
MAP: 15q11-q14|HUGO|C|
MAPLINK: default_human_gene|ACTC
PHENOTYPE: Cardiomyopathy, dilated
PHENOTYPE_ID: 115200
PHENOTYPE: Cardiomyopathy, familial hypertrophic
PHENOTYPE_ID: 192600
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=70
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=70[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118970
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118970.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005159
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005159
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=102540
PMID: 14988412,14702039,12477932,10528865,10494087,10330430,9563954,7780165,6689196,6584914,6310553,6273789,6272269,3789022,1762945,1639426,1246600
GO: cellular component|actin filament|TAS|GO:0005884|GOA|9563954
GO: molecular function|motor activity|IEA|GO:0003774|GOA|na
GO: biological process|muscle contraction|TAS|GO:0006936|GOA|9563954
GO: biological process|muscle development|IEA|GO:0007517|GOA|na
GO: biological process|regulation of heart rate|TAS|GO:0008016|GOA|9563954
GO: molecular function|structural constituent of cytoskeleton|IEA|GO:0005200|GOA|na
GO: molecular function|structural constituent of muscle|TAS|GO:0008307|GOA|9563954
>>71
LOCUSID: 71
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001614|11038618|na
NP: NP_001605|4501887
CDD: cd00012: Actin|14758|1513|na|5.868040e+02
PRODUCT: actin, gamma 1 propeptide
ASSEMBLY: M19283,X04098
CONTIG: NT_024871.11|37544588|na|1880538|1883366|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_001614|11038618|na
XP: NP_001605|4501887|na
ACCNUM: M19283|178042|na|na|na
TYPE: g
PROT: AAA51579|178043|1
ACCNUM: BC000292|33875261|na|na|na
TYPE: m
PROT: AAH00292|12653055|1
ACCNUM: BC001920|12804934|na|na|na
TYPE: m
PROT: AAH01920|12804935|1
ACCNUM: BC004223|33870331|na|na|na
TYPE: m
PROT: AAH04223|33870332|2
ACCNUM: BC007442|33990999|na|na|na
TYPE: m
PROT: AAH07442|13938581|1
ACCNUM: BC009544|16306947|na|na|na
TYPE: m
PROT: AAH09544|16306948|1
ACCNUM: BC009848|33991326|na|na|na
TYPE: m
PROT: AAH09848|14602652|1
ACCNUM: BC010417|40225337|na|na|na
TYPE: m
PROT: AAH10417|40225338|2
ACCNUM: BC010999|33988740|na|na|na
TYPE: m
PROT: AAH10999|15012187|1
ACCNUM: BC012050|15082290|na|na|na
TYPE: m
PROT: AAH12050|15082291|1
ACCNUM: BC015005|15929093|na|na|na
TYPE: m
PROT: AAH15005|15929094|1
ACCNUM: BC015695|33877594|na|na|na
TYPE: m
PROT: AAH15695|15990564|1
ACCNUM: BC015779|16041789|na|na|na
TYPE: m
PROT: AAH15779|16041790|1
ACCNUM: BC017450|16924318|na|na|na
TYPE: m
PROT: AAH17450|16924319|1
ACCNUM: BC018774|17511846|na|na|na
TYPE: m
PROT: AAH18774|17511847|1
ACCNUM: BC018861|34782781|na|na|na
TYPE: m
ACCNUM: BC023548|40226100|na|na|na
TYPE: m
PROT: AAH23548|40226101|1
ACCNUM: BC039144|25058723|na|na|na
TYPE: m
ACCNUM: BC053572|31565756|na|na|na
TYPE: m
PROT: AAH53572|31565757|1
ACCNUM: M16247|178044|na|na|na
TYPE: m
PROT: AAA51580|178045|1
ACCNUM: X04098|28338|na|na|na
TYPE: m
PROT: CAA27723|28339|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02571|113278|0
OFFICIAL_SYMBOL: ACTG1
OFFICIAL_GENE_NAME: actin, gamma 1
ALIAS_SYMBOL: ACTG
ALIAS_SYMBOL: DFNA20
ALIAS_SYMBOL: DFNA26
PREFERRED_PRODUCT: actin, gamma 1 propeptide
SUMMARY: Summary:  Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton.  In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified.  The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus.  The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility.  Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in nonmuscle cells.
CHR: 17
STS: D17S1806|17|46177|D17S1806|seq_map|10662538
STS: G06574|-|50845|na|na|epcr
STS: D17S668|17|69907|D17S668|seq_map|10662538
STS: RH48849|-|78475|na|na|epcr
STS: PMC99880P2|-|273691|na|na|epcr
ALIAS_PROT: actin, cytoplasmic 2
ALIAS_PROT: cytoskeletal gamma-actin
ALIAS_PROT: deafness, autosomal dominant 20
ALIAS_PROT: deafness, autosomal dominant 26
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=14376
UNIGENE: Hs.14376
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=426930
UNIGENE: Hs.426930
OMIM: 102560
MAP: 17q25|RefSeq|C|
MAPLINK: default_human_gene|ACTG1
REL2: 155030|NP_579881|nucleocapsid|binds|NP_001605|actin, gamma 1 propeptide|Mature HIV-1 Nucleocapsid, as well as the nucleocapsid domain of the HIV-1 Gag polyprotein, binds filamentous actin resulting in incorporation of actin into virus particles and enhancement of cell motility|12009869,11709093,10074138,10049817,9971772,8892894,8661406
REL2: 155807|NP_057852|Vpr, p15|polymerizes|NP_001605|actin, gamma 1 propeptide|HIV-1 Vpr-expressing Jurkat T cell clones showed a significant increase in G-actin polymerization to filamentous actin (F-actin), indicating a role of Vpr in microfilament system assembly.  Vpr also causes disruption of the actin cytoskeleton in yeast.|10713718,9199338
PHENOTYPE: Deafness, autosomal dominant 20/26
PHENOTYPE_ID: 604717
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=71
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=71[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120536
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9958091
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:10013844
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001614
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001614
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+71
PMID: 14684684,12612070,12477932,12009869,11941484,11709093,10713718,10662538,10074138,10049817,9971772,9199338,8941379,8892894,8661406,6865942,3737401,3472224,2837653
GO: cellular component|actin filament|IEA|GO:0005884|GOA|na
GO: molecular function|motor activity|IEA|GO:0003774|GOA|na
GO: molecular function|structural constituent of cytoskeleton|NR|GO:0005200|GOA|na
>>72
LOCUSID: 72
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001615|11038625|na
NP: NP_001606|4501889
CDD: cd00012: Actin|14758|1492|na|5.787150e+02
PRODUCT: actin, gamma 2 propeptide
ASSEMBLY: SEG_D00648S,X16940
CONTIG: NT_022184.13|37547123|na|52936071|52962715|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_001615|11038625|na
XP: NP_001606|4501889|na
ACCNUM: D00648|219418|na|na|na
TYPE: g
ACCNUM: D00649|219419|na|na|na
TYPE: g
PROT: BAA00546|219426|1
ACCNUM: D00650|219420|na|na|na
TYPE: g
PROT: BAA00546|219426|1
ACCNUM: D00651|219421|na|na|na
TYPE: g
PROT: BAA00546|219426|1
ACCNUM: D00652|219422|na|na|na
TYPE: g
PROT: BAA00546|219426|1
ACCNUM: D00653|219423|na|na|na
TYPE: g
PROT: BAA00546|219426|1
ACCNUM: D00654|219424|na|na|na
TYPE: g
PROT: BAA00546|219426|1
ACCNUM: AK124338|34530105|na|na|na
TYPE: m
ACCNUM: BC012617|15214974|na|na|na
TYPE: m
PROT: AAH12617|15214975|1
ACCNUM: CR536515|49168515|na|na|na
TYPE: m
PROT: CAG38753|49168516|1
ACCNUM: CR541794|49456544|na|na|na
TYPE: m
PROT: CAG46593|49456545|1
ACCNUM: X16940|36502|na|na|na
TYPE: m
PROT: CAA34814|36503|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P12718|113279|0
OFFICIAL_SYMBOL: ACTG2
OFFICIAL_GENE_NAME: actin, gamma 2, smooth muscle, enteric
ALIAS_SYMBOL: ACTE
ALIAS_SYMBOL: ACTA3
ALIAS_SYMBOL: ACTL3
ALIAS_SYMBOL: ACTSG
PREFERRED_PRODUCT: actin, gamma 2 propeptide
SUMMARY: Summary:  Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton.  In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified.  The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus.  The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility.  Actin, gamma 2, encoded by this gene, is a smooth muscle actin found in enteric tissues.
CHR: 2
STS: D2S2088|2|29862|D2S2088|seq_map|epcr
ALIAS_PROT: actin, alpha-3
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=403989
UNIGENE: Hs.403989
OMIM: 102545
MAP: 2p13.1|HUGO|C|
MAPLINK: default_human_gene|ACTG2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=72
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=72[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125198
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001615
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001615
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+72
PMID: 14702039,12612070,12477932,12450213,7759108,2377475,1710027
GO: cellular component|actin filament|IEA|GO:0005884|GOA|na
GO: molecular function|motor activity|IEA|GO:0003774|GOA|na
GO: biological process|muscle development|IEA|GO:0007517|GOA|na
GO: molecular function|structural constituent of cytoskeleton|IEA|GO:0005200|GOA|na
GO: molecular function|structural constituent of muscle|NR|GO:0008307|GOA|na
>>73
LOCUSID: 73
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001068|20270456|na|1|2642
CONTIG: NT_005612.14|37550867|na|45707737|45709687|+|3|na
EVID: alignment with NG_001068
XG: NG_001068|20270456|na
ACCNUM: D50658|2094760|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ACTGP1
OFFICIAL_GENE_NAME: actin, gamma pseudogene 1
CHR: 3
MAP: 3q22.3|RefSeq|C|
MAPLINK: default_human_gene|ACTGP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=73
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119647
PMID: 8941379
>>74
LOCUSID: 74
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000841|20128053|na|1|2102
CONTIG: NT_011875.10|37546625|na|6005518|6007419|-|Y|na
EVID: alignment with NG_000841
XG: NG_000841|20128053|na
ACCNUM: AC007742|10440751|na|134538|132637
TYPE: g
OFFICIAL_SYMBOL: ACTGP2
OFFICIAL_GENE_NAME: actin, gamma pseudogene 2
ALIAS_SYMBOL: ACTL2
CHR: Y
STS: G66357|-|230344|na|na|epcr
MAP: Yq11|HUGO|C|
MAPLINK: default_human_gene|ACTGP2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=74
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120537
PMID: 12815422,9847074
>>75
LOCUSID: 75
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000842|20128054|na|1|1314
CONTIG: NT_011387.8|27501067|na|1081228|1082341|+|20|na
EVID: alignment with NG_000842
XG: NG_000842|20128054|na
ACCNUM: AF196979|7012727|na|na|na
TYPE: g
ACCNUM: AL031665|11228361|na|47894|49007
TYPE: g
ACCNUM: D50657|2102643|na|na|na
TYPE: g
ACCNUM: X04224|28340|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ACTGP3
OFFICIAL_GENE_NAME: actin, gamma pseudogene 3
ALIAS_SYMBOL: dJ545L17.4
CHR: 20
MAP: 20p13-p13|RefSeq|C|
MAPLINK: default_human_gene|ACTGP3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=75
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:636825
PMID: 10978293,8941379,3748813
>>76
LOCUSID: 76
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTGP4
OFFICIAL_GENE_NAME: actin, gamma pseudogene 4
CHR: 1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_cyto|ACTGP4
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:681577
PMID: 1692956
>>77
LOCUSID: 77
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTGP5
OFFICIAL_GENE_NAME: actin, gamma pseudogene 5
CHR: 1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_cyto|ACTGP5
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:681583
PMID: 1692956
>>78
LOCUSID: 78
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTGP6
OFFICIAL_GENE_NAME: actin, gamma pseudogene 6
CHR: 1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_cyto|ACTGP6
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:681587
PMID: 1692956
>>79
LOCUSID: 79
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTGP7
OFFICIAL_GENE_NAME: actin, gamma pseudogene 7
CHR: 1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_cyto|ACTGP7
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:683126
PMID: 1692956
>>80
LOCUSID: 80
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTGP8
OFFICIAL_GENE_NAME: actin, gamma pseudogene 8
CHR: 1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_cyto|ACTGP8
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:683128
PMID: 1692956
>>81
LOCUSID: 81
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004924|34452697|na
NP: NP_004915|12025678
CDD: pfam00307: Calponin homology (CH) domain|22974|229|na|9.237860e+01
CDD: cd00176: Spectrin repeats, found in several proteins involved in cytoskeletal structure|5385|247|na|9.941860e+01
CDD: KOG0027: Calmodulin and related proteins (EF-Hand superfamily) [Signal transduction mechanisms]|17825|161|na|6.623030e+01
CDD: KOG0035: Ca2+-binding actin-bundling protein (actinin), alpha chain (EF-Hand protein superfamily) [Cytoskeleton]|17833|2783|na|1.076230e+03
PRODUCT: actinin, alpha 4
ASSEMBLY: AA478431,AU118403,BC005033,D89980
CONTIG: NT_011109.15|29800594|na|11406545|11489388|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_004924|34452697|na
XP: NP_004915|12025678|na
ACCNUM: AA478431|2207065|na|na|na
TYPE: m
ACCNUM: AU118403|10933450|na|na|na
TYPE: m
ACCNUM: BC005033|13477150|na|na|na
TYPE: m
PROT: AAH05033|13477151|1
ACCNUM: BC015620|33874636|na|na|na
TYPE: m
PROT: AAH15620|33874637|2
ACCNUM: D89980|2804272|na|na|na
TYPE: m
PROT: BAA24447|2804273|1
ACCNUM: U48734|3157975|na|na|na
TYPE: m
PROT: AAC17470|3157976|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O43707|13123943|0
OFFICIAL_SYMBOL: ACTN4
OFFICIAL_GENE_NAME: actinin, alpha 4
ALIAS_SYMBOL: FSGS
ALIAS_SYMBOL: FSGS1
PREFERRED_PRODUCT: actinin, alpha 4
SUMMARY: Summary:  Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins.  Alpha actinin is an actin-binding protein with multiple roles in different cell types.  In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane.  In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments.  This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes.  Mutations in this gene have been associated with focal and segmental glomerulosclerosis.
CHR: 19
STS: RH16012|19|20642|na|seq_map|epcr
COMP: 21024|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A81[id]+AND+gene[obj_type]&QSTR=actn4&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374303
UNIGENE: Hs.374303
OMIM: 604638
MAP: 19q13|RefSeq|C|
MAPLINK: default_human_gene|ACTN4
PHENOTYPE: Glomerulosclerosis, focal segmental, 1
PHENOTYPE_ID: 603278
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=81
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=81[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:131821
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/131821.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004924
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004924
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=604638
PMID: 15048094,12617336,12477932,12093915,12042308,10700177,10656685,9508771
GO: molecular function|actin binding|IEA|GO:0003779|GOA|na
GO: cellular component|actin cytoskeleton|TAS|GO:0015629|GOA|9508771
GO: biological process|actin filament bundle formation|NR|GO:0051017|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|cell motility|TAS|GO:0006928|GOA|9508771
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|9508771
GO: cellular component|nucleus|TAS|GO:0005634|GOA|9508771
GO: molecular function|structural constituent of cytoskeleton|TAS|GO:0005200|GOA|9508771
>>82
LOCUSID: 82
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001069|20270457|na|1|2659
CONTIG: NT_007592.13|29804415|na|36969756|36971406|+|6|na
EVID: alignment with NG_001069
XG: NG_001069|20270457|na
ACCNUM: D50659|2094761|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ACTGP9
OFFICIAL_GENE_NAME: actin, gamma pseudogene 9
CHR: 6
MAP: 6p12.3|RefSeq|C|
MAPLINK: default_human_gene|ACTGP9
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=82
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:1391661
PMID: 8941379
>>83
LOCUSID: 83
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_003039|34482048|na|1|1109
CONTIG: NT_011630.14|37546193|na|726261|727169|-|X|na
EVID: alignment with NG_003039
XG: NG_003039|34482048|na
ACCNUM: AL139396|19068211|na|30440|29532
TYPE: g
OFFICIAL_SYMBOL: ACTGP10
OFFICIAL_GENE_NAME: actin, gamma pseudogene 10
ALIAS_SYMBOL: ACTL1
ALIAS_SYMBOL: ACTP1
CHR: X
ALIAS_PROT: actin-like 1
ALIAS_PROT: actin-like sequence-1
MAP: Xp11-q11|RefSeq|C|
MAPLINK: default_human_gene|ACTGP10
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=83
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119648
PMID: 6592095
>>84
LOCUSID: 84
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTL4
OFFICIAL_GENE_NAME: actin-like 4
CHR: 3
MAP: 3pter-q21|HUGO|C|
MAPLINK: default_human_cyto|ACTL4
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118972
>>85
LOCUSID: 85
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACTL5
OFFICIAL_GENE_NAME: actin-like 5
ALIAS_SYMBOL: ACTFIB
CHR: 21
MAP: 21q22.3|RefSeq|C|
MAPLINK: default_human_cyto|ACTL5
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:135326
PMID: 10830953,1406950
>>86
LOCUSID: 86
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004301|30089995|na
NP: NP_004292|4757718
CDD: cd00012: Actin|14758|1022|na|3.976710e+02
PRODUCT: actin-like 6A isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform (a), which is also referred to as hArpNbeta/Baf53. Isoform a is found mostly in the nucleus.
ASSEMBLY: AB060168,AF041474
NM: NM_177989|30089996|na
NP: NP_817126|30089997
CDD: cd00012: Actin|14758|927|na|3.610770e+02
PRODUCT: actin-like 6A isoform 2
TRANSVAR: Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region that results in the use of a downstream start codon, compared to variant 1. Variants 2 and 3 both encode isoform b, which has a shorter N-terminus when compared to isoform a. This variant is also known as Nbeta2 and isoform b is also known as hArpNbetaS. Isoform b is found mostly in the cytoplasm.
ASSEMBLY: AB060168,BC000949
NM: NM_178042|30089998|na
NP: NP_829888|30089999
CDD: cd00012: Actin|14758|927|na|3.610770e+02
PRODUCT: actin-like 6A isoform 2
TRANSVAR: Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region that results in the use of a downstream start codon, compared to variant 1. Variants 2 and 3 both encode isoform b, which has a shorter N-terminus when compared to isoform a. This variant is also known as Nbeta3 and isoform b is also known as hArpNbetaS. Isoform b is found mostly in the cytoplasm.
ASSEMBLY: AB060168,AB061315
CONTIG: NT_005612.14|37550867|na|85775866|85801353|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_004301|30089995|na
XP: NP_004292|4757718|na
EVID: supported by alignment with mRNA
XM: NM_177989|30089996|na
XP: NP_817126|30089997|na
EVID: supported by alignment with mRNA
XM: NM_178042|30089998|na
XP: NP_829888|30089999|na
ACCNUM: AB015907|4218063|na|na|na
TYPE: m
PROT: BAA74577|4218064|1
ACCNUM: AB060168|19911055|na|na|na
TYPE: m
PROT: BAB87844|19911056|1
ACCNUM: AB061315|19911067|na|na|na
TYPE: m
PROT: BAB87848|19911068|1
ACCNUM: AF041474|4001802|na|na|na
TYPE: m
PROT: AAC94991|4001803|1
ACCNUM: AK021756|10433002|na|na|na
TYPE: m
ACCNUM: AK098691|21758778|na|na|na
TYPE: m
ACCNUM: AL136608|12052741|na|na|na
TYPE: m
PROT: CAB66543|12052742|1
ACCNUM: BC000949|12803014|na|na|na
TYPE: m
PROT: AAH00949|12654257|1
ACCNUM: BC001391|33876147|na|na|na
TYPE: m
PROT: AAH01391|12655081|1
ACCNUM: BC035463|22028048|na|na|na
TYPE: m
ACCNUM: BC036371|22137781|na|na|na
TYPE: m
PROT: AAH36371|22137782|1
ACCNUM: CR533529|49065483|na|na|na
TYPE: m
PROT: CAG38560|49065484|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O96019|23396463|0
OFFICIAL_SYMBOL: ACTL6A
OFFICIAL_GENE_NAME: actin-like 6A
ALIAS_SYMBOL: ACTL6
ALIAS_SYMBOL: BAF53A
ALIAS_SYMBOL: MGC5382
PREFERRED_PRODUCT: actin-like 6A isoform 1
PREFERRED_PRODUCT: actin-like 6A isoform 2
SUMMARY: Summary: This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described.
CHR: 3
STS: SHGC-77570|-|17682|na|na|epcr
ALIAS_PROT: BAF53
ALIAS_PROT: hArpN beta
ALIAS_PROT: actin-related protein
ALIAS_PROT: BRG1-associated factor
ALIAS_PROT: BAF complex 53 kDa subunit
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435326
UNIGENE: Hs.435326
OMIM: 604958
MAP: 3q27.1|RefSeq|C|
MAPLINK: default_human_gene|ACTL6A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=86
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=86[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9838049
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_178042
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_178042
PMID: 14702039,14503849,12477932,12437990,12353638,10611965,10380635,9845365
GO: cellular component|actin filament|IEA|GO:0005884|GOA|na
GO: molecular function|chromatin binding|TAS|GO:0003682|GOA|9845365
GO: biological process|chromatin remodeling|TAS|GO:0006338|GOA|9845365
GO: molecular function|motor activity|IEA|GO:0003774|GOA|na
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|response to pest, pathogen or parasite|TAS|GO:0009613|GOA|9845365
GO: biological process|signal transduction|TAS|GO:0007165|GOA|9845365
GO: molecular function|structural constituent of cytoskeleton|IEA|GO:0005200|GOA|na
>>87
LOCUSID: 87
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001102|12025669|na
NP: NP_001093|4501891
CDD: pfam00307: Calponin homology (CH) domain|22974|235|na|9.468980e+01
CDD: cd00176: Spectrin repeats, found in several proteins involved in cytoskeletal structure|5385|162|na|6.667670e+01
CDD: KOG0027: Calmodulin and related proteins (EF-Hand superfamily) [Signal transduction mechanisms]|17825|148|na|6.122270e+01
CDD: KOG0035: Ca2+-binding actin-bundling protein (actinin), alpha chain (EF-Hand protein superfamily) [Cytoskeleton]|17833|2866|na|1.108200e+03
PRODUCT: actinin, alpha 1
ASSEMBLY: M95178,X15804,X55187
CONTIG: NT_026437.10|29736559|na|49261081|49365997|-|14|reference
EVID: supported by alignment with mRNA
XM: NM_001102|12025669|na
XP: NP_001093|4501891|na
ACCNUM: BC003576|13097755|na|na|na
TYPE: m
PROT: AAH03576|13097756|1
ACCNUM: BC004984|14709677|na|na|na
TYPE: m
ACCNUM: BC015766|16041770|na|na|na
TYPE: m
PROT: AAH15766|16041771|1
ACCNUM: BT007207|30583252|na|na|na
TYPE: m
PROT: AAP35871|30583253|1
ACCNUM: M95178|178051|na|na|na
TYPE: m
PROT: AAA51582|178052|1
ACCNUM: X15804|28333|na|na|na
TYPE: m
PROT: CAA33803|28334|1
ACCNUM: X55187|28722|na|na|na
TYPE: m
PROT: CAA38970|28723|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P12814|46397817|0
OFFICIAL_SYMBOL: ACTN1
OFFICIAL_GENE_NAME: actinin, alpha 1
PREFERRED_PRODUCT: actinin, alpha 1
SUMMARY: Summary:  Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins.  Alpha actinin is an actin-binding protein with multiple roles in different cell types.  In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane.  In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments.  This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene.
CHR: 14
STS: D14S1312|14|34350|D14S1312|seq_map|epcr
STS: D14S1222|14|70425|D14S1222|seq_map|epcr
STS: Actn1|12|228474|na|na|epcr
COMP: 20305|14|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=14&MAPS=genes-r-org/rat-chr/human%3A14,genes-r-org/human-chr14&query=e%3A87[id]+AND+gene[obj_type]&QSTR=actn1&cmd=focus&fill=10|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=119000
UNIGENE: Hs.119000
OMIM: 102575
MAP: 14q24.1-q24.2|HUGO|C|14q24|RefSeq|C|14q22-q24|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102575">OMIM</a>|C|
MAPLINK: default_human_gene|ACTN1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=87
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=87[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125187
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001102
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001102
DB_DESCR: PharmGKB: PA24
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24
PMID: 12837758,12493766,12477932,2780298,2349951,2169343
GO: molecular function|actin binding|IEA|GO:0003779|GOA|na
GO: cellular component|actin cytoskeleton|TAS|GO:0015629|GOA|2349951
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|structural constituent of cytoskeleton|TAS|GO:0005200|GOA|2349951
>>88
LOCUSID: 88
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001103|4501892|na
NP: NP_001094|4501893
CDD: cd00014: Calponin homology domain|8913|238|na|9.578580e+01
CDD: cd00176: Spectrin repeats, found in several proteins involved in cytoskeletal structure|5385|162|na|6.667670e+01
CDD: KOG0027: Calmodulin and related proteins (EF-Hand superfamily) [Signal transduction mechanisms]|17825|164|na|6.738590e+01
CDD: KOG0035: Ca2+-binding actin-bundling protein (actinin), alpha chain (EF-Hand protein superfamily) [Cytoskeleton]|17833|2646|na|1.023460e+03
PRODUCT: actinin, alpha 2
ASSEMBLY: M86406
CONTIG: NT_004836.15|37549514|na|1607588|1685029|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_001103|4501892|na
XP: NP_001094|4501893|na
ACCNUM: AJ249756|6449431|na|na|na
TYPE: g
PROT: CAB61269|6449432|1
ACCNUM: AJ249757|6448543|na|na|na
TYPE: g
ACCNUM: AJ249758|6448544|na|na|na
TYPE: g
ACCNUM: AJ249759|6448545|na|na|na
TYPE: g
ACCNUM: AJ249760|6448546|na|na|na
TYPE: g
ACCNUM: AJ249761|6448547|na|na|na
TYPE: g
ACCNUM: AJ249762|6448548|na|na|na
TYPE: g
ACCNUM: AJ249763|6448549|na|na|na
TYPE: g
ACCNUM: AJ249764|6448550|na|na|na
TYPE: g
ACCNUM: AJ249765|6448551|na|na|na
TYPE: g
ACCNUM: AJ249766|6448552|na|na|na
TYPE: g
ACCNUM: AJ249767|6448553|na|na|na
TYPE: g
ACCNUM: AJ249768|6448554|na|na|na
TYPE: g
ACCNUM: AJ249769|6448555|na|na|na
TYPE: g
ACCNUM: AJ249770|6448556|na|na|na
TYPE: g
ACCNUM: AJ249771|6448557|na|na|na
TYPE: g
ACCNUM: AJ249772|6448558|na|na|na
TYPE: g
ACCNUM: AJ249773|6448559|na|na|na
TYPE: g
ACCNUM: AJ249774|6448560|na|na|na
TYPE: g
ACCNUM: AJ249775|6448561|na|na|na
TYPE: g
ACCNUM: AJ249776|6448562|na|na|na
TYPE: g
ACCNUM: M86804|178055|na|na|na
TYPE: g
PROT: AAA51584|178056|1
ACCNUM: BC047901|34194597|na|na|na
TYPE: m
PROT: AAH47901|34194598|2
ACCNUM: BC051770|30354572|na|na|na
TYPE: m
PROT: AAH51770|37589943|2
ACCNUM: M86406|178053|na|na|na
TYPE: m
PROT: AAA51583|178054|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35609|543742|0
OFFICIAL_SYMBOL: ACTN2
OFFICIAL_GENE_NAME: actinin, alpha 2
PREFERRED_PRODUCT: actinin, alpha 2
SUMMARY: Summary:  Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins.  Alpha actinin is an actin-binding protein with multiple roles in different cell types.  In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane.  In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments.  This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles.  Transcript variants resulting from the use of multiple poly_A sites have been observed.
CHR: 1
STS: SHGC-12727|1;|13886|na|na|epcr
STS: G31538|-|31701|na|na|epcr
STS: D1S2925|1|52535|D1S2925|seq_map|epcr
STS: GDB:451691|-|157347|na|na|epcr
COMP: 31016|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A88[id]+AND+gene[obj_type]&QSTR=actn2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83672
UNIGENE: Hs.83672
OMIM: 102573
MAP: 1q42-q43|HUGO|C|
MAPLINK: default_human_gene|ACTN2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=88
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=88[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127919
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001103
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001103
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=102573
PMID: 12809483,12477932,12140183,10548523,1505962,1339456
GO: molecular function|actin binding|IEA|GO:0003779|GOA|na
GO: cellular component|actin filament|TAS|GO:0005884|GOA|1339456
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: cellular component|cytoskeleton|NAS|GO:0005856|GOA|12809483
GO: molecular function|protein binding|IPI|GO:0005515|GOA|12809483
GO: molecular function|structural constituent of muscle|TAS|GO:0008307|GOA|1339456
>>89
LOCUSID: 89
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001104|4557240|na
NP: NP_001095|4557241
CDD: cd00014: Calponin homology domain|8913|243|na|9.771180e+01
CDD: cd00176: Spectrin repeats, found in several proteins involved in cytoskeletal structure|5385|148|na|6.128390e+01
CDD: KOG0027: Calmodulin and related proteins (EF-Hand superfamily) [Signal transduction mechanisms]|17825|163|na|6.700070e+01
CDD: KOG0035: Ca2+-binding actin-bundling protein (actinin), alpha chain (EF-Hand protein superfamily) [Cytoskeleton]|17833|2679|na|1.036170e+03
PRODUCT: skeletal muscle specific actinin, alpha 3
ASSEMBLY: M86407
CONTIG: NT_033903.6|37541191|na|11487433|11503839|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001104|4557240|na
XP: NP_001095|4557241|na
ACCNUM: AK125851|34532102|na|na|na
TYPE: m
ACCNUM: M86407|178057|na|na|na
TYPE: m
PROT: AAA51585|178058|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q08043|728751|0
OFFICIAL_SYMBOL: ACTN3
OFFICIAL_GENE_NAME: actinin, alpha 3
PREFERRED_PRODUCT: skeletal muscle specific actinin, alpha 3
SUMMARY: Summary: Alpha-actinin is an actin-binding protein with multiple roles in different cell types. ACTN3 expression is limited to skeletal muscle. It is localized to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments
CHR: 11
STS: ACTN3|11|9576|na|seq_map|epcr
STS: STS-M86407|11|61809|na|seq_map|epcr
STS: GDB:197568|11|155948|na|seq_map|epcr
STS: Actn3|19|228476|na|na|epcr
COMP: 862|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A89[id]+AND+gene[obj_type]&QSTR=actn3&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445037
UNIGENE: Hs.445037
OMIM: 102574
MAP: 11q13-q14|HUGO|C|
MAPLINK: default_human_gene|ACTN3
PHENOTYPE: Alpha-actinin-3 deficiency
PHENOTYPE_ID: 102574
PHENOTYPE: Elite sprint athletic performance
PHENOTYPE_ID: 102574
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=89
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=89[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127920
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001104
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001104
PMID: 1339456
GO: molecular function|actin binding|IEA|GO:0003779|GOA|na
GO: cellular component|actin filament|TAS|GO:0005884|GOA|1339456
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|structural constituent of muscle|TAS|GO:0008307|GOA|1339456
>>90
LOCUSID: 90
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001105|10862690|na
NP: NP_001096|4501895
CDD: smart00467: GS motif|421|128|na|5.325800e+01
CDD: pfam00069: Protein kinase domain|22891|435|na|1.716010e+02
CDD: pfam01064: Activin types I and II receptor domain|23143|191|na|7.784820e+01
CDD: KOG2052: Activin A type IB receptor, serine/threonine protein kinase [Signal transduction mechanisms]|19838|1888|na|7.313320e+02
PRODUCT: activin A type I receptor precursor
ASSEMBLY: L02911,Z22534
CONTIG: NT_005403.14|37551287|na|8802379|8904208|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_001105|10862690|na
XP: NP_001096|4501895|na
ACCNUM: BC033867|21707501|na|na|na
TYPE: m
PROT: AAH33867|21707502|1
ACCNUM: BC036748|22450871|na|na|na
TYPE: m
ACCNUM: L02911|338218|na|na|na
TYPE: m
PROT: AAA36614|338219|1
ACCNUM: Z22534|402184|na|na|na
TYPE: m
PROT: CAA80256|402185|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q04771|462447|0
OFFICIAL_SYMBOL: ACVR1
OFFICIAL_GENE_NAME: activin A receptor, type I
ALIAS_SYMBOL: ALK2
ALIAS_SYMBOL: SKR1
ALIAS_SYMBOL: ACTRI
ALIAS_SYMBOL: ACVRLK2
PREFERRED_PRODUCT: activin A type I receptor precursor
SUMMARY: Summary: Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors.
CHR: 2
STS: D2S2000|2|312|D2S2000|seq_map|epcr
STS: RH69582|-|13845|na|na|epcr
STS: RH68903|2|66551|na|seq_map|epcr
STS: RH70974|2|73647|na|seq_map|epcr
COMP: 7|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A90[id]+AND+gene[obj_type]&QSTR=acvr1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: hydroxyalkyl-protein kinase
ALIAS_PROT: activin A receptor, type II-like kinase 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150402
UNIGENE: Hs.150402
OMIM: 102576
ECNUM: 2.7.1.37
MAP: 2q23-q24|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576">OMIM</a>|C|
MAPLINK: default_human_gene|ACVR1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=90
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=90[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:216986
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001105
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001105
DB_DESCR: KEGG pathway: TGF-beta signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04350+90
DB_DESCR: KEGG pathway: Cytokine-cytokine receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04060+90
PMID: 12477932,11969340,9501322,8397373,8389764,8242742
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8397373
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
GO: molecular function|transforming growth factor beta receptor activity|IEA|GO:0005024|GOA|na
GO: biological process|transmembrane receptor protein serine/threonine kinase signaling pathway|TAS|GO:0007178|GOA|8389764
>>91
LOCUSID: 91
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004302|33598913|na
NP: NP_004293|4757720
CDD: pfam00069: Protein kinase domain|22891|359|na|1.423260e+02
CDD: pfam01064: Activin types I and II receptor domain|23143|199|na|8.092980e+01
CDD: KOG2052: Activin A type IB receptor, serine/threonine protein kinase [Signal transduction mechanisms]|19838|2079|na|8.049050e+02
PRODUCT: activin A type IB receptor isoform a precursor
TRANSVAR: Transcript Variant: This variant (1) encodes the longest isoform (a), that contains a complete protein kinase domain. Isoforms a, b, and c have distinct C-termini.
ASSEMBLY: BC000254,BC040531,L10125,Z22536
NM: NM_020327|33598909|na
NP: NP_064732|33598910
CDD: pfam01064: Activin types I and II receptor domain|23143|198|na|8.054460e+01
CDD: cd00180: Serine/Threonine protein kinases, catalytic domain|17776|335|na|1.330180e+02
CDD: KOG2052: Activin A type IB receptor, serine/threonine protein kinase [Signal transduction mechanisms]|19838|1923|na|7.448140e+02
PRODUCT: activin A type IB receptor isoform b precursor
TRANSVAR: Transcript Variant: This variant (2) contains an alternative exon 10 (10b) and lacks exon 11, as compared to variant 1. Thus, the encoded isoform (b) has a truncated kinase domain and an unique 12 aa C-terminal tail, compared to isoform a.
ASSEMBLY: L10125,L31848
NM: NM_020328|33598911|na
NP: NP_064733|33598912
CDD: pfam01064: Activin types I and II receptor domain|23143|197|na|8.015940e+01
CDD: cd00180: Serine/Threonine protein kinases, catalytic domain|17776|332|na|1.318630e+02
CDD: KOG2052: Activin A type IB receptor, serine/threonine protein kinase [Signal transduction mechanisms]|19838|1752|na|6.789450e+02
PRODUCT: activin A type IB receptor isoform c precursor
TRANSVAR: Transcript Variant: This variant (3) contains an alternative exon 9 (9b) and lacks exons 10 and 11, as compared to variant 1. Thus, the encoded isoform (c) has a truncated kinase domain and an unique 66 aa C-terminal tail, compared to isoform a.
ASSEMBLY: L10125,L10126,L31848
CONTIG: NT_029419.10|29803948|na|14488792|14534166|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_004302|33598913|na
XP: NP_004293|4757720|na
EVID: supported by alignment with mRNA
XM: NM_020327|33598909|na
XP: NP_064732|33598910|na
EVID: supported by alignment with mRNA
XM: NM_020328|33598911|na
XP: NP_064733|33598912|na
ACCNUM: L31848|576680|na|na|na
TYPE: g
PROT: AAA53349|576681|1
PROT: AAA53350|576682|1
PROT: AAA53351|576683|1
ACCNUM: BC000254|12652986|na|na|na
TYPE: m
PROT: AAH00254|12652987|1
ACCNUM: BC034008|21675125|na|na|na
TYPE: m
ACCNUM: BC040531|26252116|na|na|na
TYPE: m
PROT: AAH40531|26252117|1
ACCNUM: BT007072|30582982|na|na|na
TYPE: m
PROT: AAP35735|30582983|1
ACCNUM: L10125|558101|na|na|na
TYPE: m
PROT: AAA60555|338215|1
ACCNUM: L10126|558102|na|na|na
TYPE: m
PROT: AAA60556|338217|1
ACCNUM: U14722|555933|na|na|na
TYPE: m
PROT: AAA50246|555934|1
ACCNUM: Z22536|402188|na|na|na
TYPE: m
PROT: CAA80258|402189|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P36896|547775|0
OFFICIAL_SYMBOL: ACVR1B
OFFICIAL_GENE_NAME: activin A receptor, type IB
ALIAS_SYMBOL: ALK4
ALIAS_SYMBOL: SKR2
ALIAS_SYMBOL: ACTRIB
ALIAS_SYMBOL: ACVRLK4
PREFERRED_PRODUCT: activin A type IB receptor isoform a precursor
PREFERRED_PRODUCT: activin A type IB receptor isoform b precursor
PREFERRED_PRODUCT: activin A type IB receptor isoform c precursor
SUMMARY: Summary: Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling, and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type IB receptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed.
CHR: 12
STS: GDB:679112|12|36488|na|seq_map|epcr
STS: RH69000|12|54819|na|seq_map|epcr
STS: A003N21|12|62936|na|seq_map|epcr
STS: G42984|12|94857|na|seq_map|epcr
STS: G59320|12|136635|na|seq_map|epcr
STS: G64264|-|166636|na|na|epcr
COMP: 20906|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A91[id]+AND+gene[obj_type]&QSTR=acvr1b&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: activin receptor-like kinase 4
ALIAS_PROT: activin A receptor, type II-like kinase 4
ALIAS_PROT: serine(threonine) protein kinase receptor R2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=371974
UNIGENE: Hs.371974
OMIM: 601300
ECNUM: 2.7.1.37
MAP: 12q13|RefSeq|C|
MAPLINK: default_human_gene|ACVR1B
PHENOTYPE: Pancreatic cancer, somatic
PHENOTYPE_ID: 601300
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=91
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=91[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:230247
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004302
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004302
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+91
DB_DESCR: KEGG pathway: TGF-beta signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04350+91
DB_DESCR: KEGG pathway: Cytokine-cytokine receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04060+91
PMID: 12665502,12639945,12477932,12364468,11969340,9501322,8397373,8196624,8058741
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8397373
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|protein serine/threonine kinase activity|IEA|GO:0004674|GOA|na
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
GO: molecular function|transforming growth factor beta receptor activity|IEA|GO:0005024|GOA|na
GO: biological process|transmembrane receptor protein serine/threonine kinase signaling pathway|TAS|GO:0007178|GOA|8397373
>>92
LOCUSID: 92
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001616|10862696|na
NP: NP_001607|4501897
CDD: pfam00069: Protein kinase domain|22891|447|na|1.762240e+02
CDD: pfam01064: Activin types I and II receptor domain|23143|134|na|5.589180e+01
CDD: KOG3653: Transforming growth factor beta/activin receptor subfamily of serine/threonine kinases [Signal transduction mechanisms]|21433|1791|na|6.939790e+02
PRODUCT: activin A type II receptor precursor
ASSEMBLY: D31770,X62381
CONTIG: NT_005058.14|37547378|na|17208171|17294521|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_001616|10862696|na
XP: NP_001607|4501897|na
ACCNUM: BC067417|45709813|na|na|na
TYPE: m
PROT: AAH67417|45709814|1
ACCNUM: BC067418|45708975|na|na|na
TYPE: m
PROT: AAH67418|45708976|1
ACCNUM: BC069707|46854718|na|na|na
TYPE: m
PROT: AAH69707|46854719|1
ACCNUM: D31770|1321631|na|na|na
TYPE: m
PROT: BAA06548|1321632|1
ACCNUM: M93415|178049|na|na|na
TYPE: m
PROT: AAA35504|178050|1
ACCNUM: X62381|28347|na|na|na
TYPE: m
PROT: CAA44245|28348|1
ACCNUM: X63128|3928172|na|na|na
TYPE: m
PROT: CAA44839|28350|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P27037|114722|0
OFFICIAL_SYMBOL: ACVR2
OFFICIAL_GENE_NAME: activin A receptor, type II
ALIAS_SYMBOL: ACTRII
PREFERRED_PRODUCT: activin A type II receptor precursor
SUMMARY: Summary: Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type II receptor, and its sequence is 99% identical to that of the mouse type II receptor gene.
CHR: 2
STS: STS-X62381|2|67721|na|seq_map|epcr
COMP: 20391|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A92[id]+AND+gene[obj_type]&QSTR=acvr2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389846
UNIGENE: Hs.389846
OMIM: 102581
ECNUM: 2.7.1.-
MAP: 2q22.2-q23.3|RefSeq|C|
MAPLINK: default_human_gene|ACVR2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=92
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=92[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132411
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001616
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001616
DB_DESCR: KEGG pathway: TGF-beta signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04350+92
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+92
DB_DESCR: KEGG pathway: Inositol phosphate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00562+92
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+92
DB_DESCR: KEGG pathway: Porphyrin and chlorophyll metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00860+92
DB_DESCR: KEGG pathway: Cytokine-cytokine receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04060+92
DB_DESCR: KEGG pathway: Nicotinate and nicotinamide metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00760+92
PMID: 14988818,14738881,14691305,12667445,12477932,11969340,10702675,10323406,8243335,1646080,1314589,1311955
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|1314589
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
GO: molecular function|transforming growth factor beta receptor activity|IEA|GO:0005024|GOA|na
GO: biological process|transmembrane receptor protein serine/threonine kinase signaling pathway|TAS|GO:0007178|GOA|1314589
>>93
LOCUSID: 93
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001106|10862697|na
NP: NP_001097|4501899
CDD: pfam01064: Activin types I and II receptor domain|23143|187|na|7.630740e+01
CDD: cd00180: Serine/Threonine protein kinases, catalytic domain|17776|338|na|1.341740e+02
PRODUCT: activin A type IIB receptor precursor
ASSEMBLY: X77533
CONTIG: NT_022517.16|37550163|na|38421435|38450489|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_001106|10862697|na
XP: NP_001097|4501899|na
ACCNUM: AB008681|2760152|na|na|na
TYPE: g
PROT: BAA24180|5731735|2
ACCNUM: AF060200|3769439|na|na|na
TYPE: g
PROT: AAC64515|3769443|1
ACCNUM: AF060201|3769440|na|na|na
TYPE: g
PROT: AAC64515|3769443|1
ACCNUM: AF060202|3769441|na|na|na
TYPE: g
PROT: AAC64515|3769443|1
ACCNUM: AF075005|3377544|na|na|na
TYPE: m
PROT: AAC28458|3377545|1
ACCNUM: X77533|825619|na|na|na
TYPE: m
PROT: CAA54671|825620|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13705|20532386|0
OFFICIAL_SYMBOL: ACVR2B
OFFICIAL_GENE_NAME: activin A receptor, type IIB
ALIAS_SYMBOL: ActR-IIB
PREFERRED_PRODUCT: activin A type IIB receptor precursor
SUMMARY: Summary: Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor.
CHR: 3
COMP: 863|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A93[id]+AND+gene[obj_type]&QSTR=acvr2b&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=23994
UNIGENE: Hs.23994
OMIM: 602730
MAP: 3p22|RefSeq|C|
MAPLINK: default_human_gene|ACVR2B
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=93
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=93[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:358991
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001106
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001106
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=602730
DB_DESCR: KEGG pathway: TGF-beta signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04350+93
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+93
DB_DESCR: KEGG pathway: Inositol phosphate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00562+93
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+93
DB_DESCR: KEGG pathway: Porphyrin and chlorophyll metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00860+93
DB_DESCR: KEGG pathway: Cytokine-cytokine receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04060+93
DB_DESCR: KEGG pathway: Nicotinate and nicotinamide metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00760+93
PMID: 14738881,12782414,11969340,11279102,10766733,10702675,9916847,9621519,8161782
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8161782
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|protein binding|ISS|GO:0005515|GOA|11279102
GO: molecular function|protein-tyrosine kinase activity|IEA|GO:0004713|GOA|na
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
GO: molecular function|transforming growth factor beta receptor activity|IEA|GO:0005024|GOA|na
GO: biological process|transmembrane receptor protein serine/threonine kinase signaling pathway|IEA|GO:0007178|GOA|8161782
GO: biological process|transmembrane receptor protein serine/threonine kinase signaling pathway|TAS|GO:0007178|GOA|8161782
>>94
LOCUSID: 94
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000020|4557242|na
NP: NP_000011|4557243
CDD: smart00467: GS motif|421|121|na|5.056160e+01
CDD: pfam00069: Protein kinase domain|22891|436|na|1.719870e+02
CDD: pfam01064: Activin types I and II receptor domain|23143|178|na|7.284060e+01
CDD: KOG2052: Activin A type IB receptor, serine/threonine protein kinase [Signal transduction mechanisms]|19838|1850|na|7.166940e+02
PRODUCT: activin A receptor type II-like 1
ASSEMBLY: Z22533
CONTIG: NT_029419.10|29803948|na|14444508|14458159|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_000020|4557242|na
XP: NP_000011|4557243|na
ACCNUM: U77707|2228554|na|na|na
TYPE: g
PROT: AAB61900|2228562|1
ACCNUM: U77708|2228555|na|na|na
TYPE: g
PROT: AAB61900|2228562|1
ACCNUM: U77709|2228556|na|na|na
TYPE: g
PROT: AAB61900|2228562|1
ACCNUM: U77710|2228557|na|na|na
TYPE: g
PROT: AAB61900|2228562|1
ACCNUM: U77711|2228558|na|na|na
TYPE: g
PROT: AAB61900|2228562|1
ACCNUM: U77712|2228559|na|na|na
TYPE: g
PROT: AAB61900|2228562|1
ACCNUM: U77713|2228560|na|na|na
TYPE: g
PROT: AAB61900|2228562|1
ACCNUM: BC042637|27769257|na|na|na
TYPE: m
PROT: AAH42637|27769258|1
ACCNUM: L17075|425147|na|na|na
TYPE: m
PROT: AAA16160|425148|1
ACCNUM: Z22533|402196|na|na|na
TYPE: m
PROT: CAA80255|402197|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P37023|3915750|0
OFFICIAL_SYMBOL: ACVRL1
OFFICIAL_GENE_NAME: activin A receptor type II-like 1
ALIAS_SYMBOL: HHT
ALIAS_SYMBOL: ALK1
ALIAS_SYMBOL: HHT2
ALIAS_SYMBOL: ORW2
ALIAS_SYMBOL: SKR3
ALIAS_SYMBOL: ALK-1
ALIAS_SYMBOL: ACVRLK1
PREFERRED_PRODUCT: activin A receptor type II-like 1
SUMMARY: Summary: Activin A receptor, type II-like 1 (also called activin receptor-like kinase 1) is a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail.  The protein (sometimes termed ALK1) shares similar domain structures with 3 other closely related ALK proteins (ALK2, ALK3, and ALK4) that together form a subfamily of receptor serine/threonine kinases.  ACVRL1 is most highly expressed in human placenta and lung. ACVRL1 deficiency causes hemorrhagic telangiectasia type 2 (HHT2; MIM 600376) also known as Rendu-Osler-Weber syndrome 2 (ORW2).
CHR: 12
STS: RH46550|-|13612|na|na|epcr
STS: STS-T96544|-|21126|na|na|epcr
STS: STS-T96544|-|51229|na|na|epcr
COMP: 20058|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A94[id]+AND+gene[obj_type]&QSTR=acvrl1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Activin A receptor, type II-like kinase 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410104
UNIGENE: Hs.410104
OMIM: 601284
ECNUM: 2.7.1.37
MAP: 12q11-q14|RefSeq|C|
MAPLINK: default_human_gene|ACVRL1
PHENOTYPE: Hereditary hemorrhagic telangiectasia-2
PHENOTYPE_ID: 600376
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=94
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=94[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:230240
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/230240.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000020
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000020
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=601284
DB_DESCR: KEGG pathway: TGF-beta signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04350+94
PMID: 15024723,14684682,14580334,12920067,12477932,12453878,12393874,12114496,9245985,8928814,8717052,8640225,8397373,8242742
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|circulation|TAS|GO:0008015|GOA|9245985
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8397373
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
GO: molecular function|transforming growth factor beta receptor activity|IEA|GO:0005024|GOA|na
GO: biological process|transforming growth factor beta receptor signaling pathway|TAS|GO:0007179|GOA|8928814
>>95
LOCUSID: 95
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000666|4501900|na
NP: NP_000657|4501901
CDD: KOG2276: Metalloexopeptidases [Amino acid transport and metabolism]|20062|148|na|6.110930e+01
CDD: KOG2275: Aminoacylase ACY1 and related metalloexopeptidases [Amino acid transport and metabolism]|20061|1386|na|5.379560e+02
PRODUCT: aminoacylase 1
ASSEMBLY: L07548
CONTIG: NT_022517.16|37550163|na|51941042|51946696|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_000666|4501900|na
XP: NP_000657|4501901|na
ACCNUM: BC000545|33875558|na|na|na
TYPE: m
PROT: AAH00545|12653545|1
ACCNUM: BC003023|12804328|na|na|na
TYPE: m
PROT: AAH03023|12804329|1
ACCNUM: BC014112|40225716|na|na|na
TYPE: m
PROT: AAH14112|15559494|1
ACCNUM: D14524|285902|na|na|na
TYPE: m
PROT: BAA03397|285903|1
ACCNUM: D16307|303594|na|na|na
TYPE: m
PROT: BAA03814|303595|1
ACCNUM: L07548|178070|na|na|na
TYPE: m
PROT: AAA02852|178071|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q03154|461466|0
OFFICIAL_SYMBOL: ACY1
OFFICIAL_GENE_NAME: aminoacylase 1
ALIAS_SYMBOL: ACYLASE
PREFERRED_PRODUCT: aminoacylase 1
SUMMARY: Summary:  Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids.  ACY1 has been assigned to chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors.  The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and ACY1 is the first member of a new family of zinc-binding enzymes.
CHR: 3
STS: RH11608|3|72810|na|seq_map|epcr
STS: RH135818|-|209636|na|na|epcr
COMP: 544|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A95[id]+AND+gene[obj_type]&QSTR=acy1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334707
UNIGENE: Hs.334707
OMIM: 104620
ECNUM: 3.5.1.14
MAP: 3p21.1|HUGO|C|
MAPLINK: default_human_gene|ACY1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=95
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=95[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118973
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000666
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000666
DB_DESCR: KEGG pathway: Urea cycle and metabolism of amino groups
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00220+95
PMID: 12933810,12477932,8394326,8357837,1707030
GO: biological process|amino acid metabolism|NR|GO:0006520|GOA|na
GO: molecular function|aminoacylase activity|TAS|GO:0004046|GOA|1707030
GO: cellular component|cytosol|TAS|GO:0005829|GOA|8394326
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|metallopeptidase activity|IEA|GO:0008237|GOA|na
GO: biological process|proteolysis and peptidolysis|IEA|GO:0006508|GOA|na
>>96
LOCUSID: 96
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ACY1L
OFFICIAL_GENE_NAME: aminoacylase 1-like
ALIAS_SYMBOL: AN
CHR: 18
ALIAS_PROT: 91184800
MAP: 18|RefSeq|C|
MAPLINK: default_human_cyto|ACY1L
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128121
>>97
LOCUSID: 97
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001107|45243543|na
NP: NP_001098|4557245
CDD: KOG3360: Acylphosphatase [Energy production and conversion]|21145|373|na|1.477300e+02
PRODUCT: erythrocyte acylphosphatase 1 isoform a
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform (a).
ASSEMBLY: AW390293,BC035568,BE467248,BX104912
NM: NM_203488|45243546|na
NP: NP_982355|45243547
CDD: KOG3360: Acylphosphatase [Energy production and conversion]|21145|117|na|4.911890e+01
PRODUCT: erythrocyte acylphosphatase 1 isoform b
TRANSVAR: Transcript Variant: This variant (2) includes an alternate segment, compared to variant 1, that causes a frameshift. The resulting protein (isoform b) has a shorter and distinct C-terminus, compared to isoform a. Although the transcript is experimentally supported, the predicted protein encoded by this transcript needs to be experimentally verified.
ASSEMBLY: AW390293,BC035568,BE467248,BG614847,BX104912
CONTIG: NT_026437.10|29736559|na|55440188|55450577|-|14|reference
XM: XM_370768|41203750|na
XP: XP_370768|41203751|na
CDD: Acylphosphatase|pfam00708|354|3.530e-35|140.506
ACCNUM: AC007055|4885691|na|na|na
TYPE: g
PROT: AAD31937|4885693|1
ACCNUM: AW390293|6894952|na|na|na
TYPE: m
ACCNUM: BC035568|23274139|na|na|na
TYPE: m
PROT: AAH35568|23274140|1
ACCNUM: BE467248|9513023|na|na|na
TYPE: m
ACCNUM: BG614847|13666218|na|na|na
TYPE: m
ACCNUM: BX104912|27833216|na|na|na
TYPE: m
ACCNUM: X84194|1816490|na|na|na
TYPE: m
PROT: CAA58987|1834464|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P07311|2507560|0
OFFICIAL_SYMBOL: ACYP1
OFFICIAL_GENE_NAME: acylphosphatase 1, erythrocyte (common) type
ALIAS_SYMBOL: ACYPE
PREFERRED_PRODUCT: erythrocyte acylphosphatase 1 isoform a
PREFERRED_PRODUCT: erythrocyte acylphosphatase 1 isoform b
SUMMARY: Summary: Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase, on the basis of their tissue localization. This gene encodes the erythrocyte acylphosphatase isoenzyme. Alternatively spliced transcript variants that encode different proteins were identified through data analysis.
CHR: 14
STS: A007H05|14|22158|na|seq_map|epcr
STS: RH70143|14|58459|na|seq_map|epcr
STS: D14S1172|-|154629|D14S1172|na|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=18573
UNIGENE: Hs.18573
OMIM: 600875
ECNUM: 3.6.1.7
MAP: 14q24.3|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600875">OMIM</a>|C|
MAPLINK: default_human_gene|ACYP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=97
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:638808
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_203488
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_203488
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+97
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+97
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+97
DB_DESCR: KEGG pathway: Benzoate degradation via CoA ligation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00632+97
PMID: 12477932,12409302,7796909,3026468
GO: molecular function|acylphosphatase activity|IEA|GO:0003998|GOA|7796909
GO: molecular function|acylphosphatase activity|TAS|GO:0003998|GOA|7796909
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|phosphate metabolism|TAS|GO:0006796|GOA|3026468
>>98
LOCUSID: 98
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_138448|20336764|na
NP: NP_612457|20149322
CDD: KOG3360: Acylphosphatase [Energy production and conversion]|21145|367|na|1.454190e+02
PRODUCT: muscle-type acylphosphatase 2
ASSEMBLY: BC012290,BF739886
CONTIG: NT_022184.13|37547123|na|33158342|33348213|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_138448|20336764|na
XP: NP_612457|20149322|na
ACCNUM: BC012290|15341746|na|na|na
TYPE: m
PROT: AAH12290|15341747|1
ACCNUM: BF739886|12066550|na|na|na
TYPE: m
ACCNUM: X84195|1816492|na|na|na
TYPE: m
PROT: CAA58988|1816493|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P14621|2822108|0
OFFICIAL_SYMBOL: ACYP2
OFFICIAL_GENE_NAME: acylphosphatase 2, muscle type
ALIAS_SYMBOL: ACYM
ALIAS_SYMBOL: ACYP
PREFERRED_PRODUCT: muscle-type acylphosphatase 2
SUMMARY: Summary: Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation.
CHR: 2
STS: D2S2251|-|6209|D2S2251|na|epcr
STS: GDB:313489|-|40530|na|na|epcr
STS: RH35993|2|55620|na|seq_map|epcr
COMP: 12610|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A98[id]+AND+gene[obj_type]&QSTR=acyp2&cmd=focus&fill=10|Mouse
ALIAS_PROT: acylphosphate phosphohydrolase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433071
UNIGENE: Hs.433071
OMIM: 102595
ECNUM: 3.6.1.7
MAP: 2p16.2|RefSeq|C|
MAPLINK: default_human_gene|ACYP2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=98
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=98[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:304769
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138448
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138448
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+98
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+98
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+98
DB_DESCR: KEGG pathway: Benzoate degradation via CoA ligation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00632+98
PMID: 12477932,11799398,10542090,9395090,8268218,7796909,7487897,6100723
GO: molecular function|acylphosphatase activity|TAS|GO:0003998|GOA|8268218
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|intracellular|IEA|GO:0005622|GOA|na
GO: molecular function|nucleic acid binding|IEA|GO:0003676|GOA|na
GO: biological process|phosphate metabolism|TAS|GO:0006796|GOA|8268218
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
>>99
LOCUSID: 99
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AD2
OFFICIAL_GENE_NAME: Alzheimer disease 2 (APOE*E4-associated, late onset)
CHR: 19
STS: D19S571|19|21058|D19S571|seq_map|9931331
OMIM: 104310
MAP: 19cen-q13.2|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104310">OMIM</a>|C|
MAPLINK: default_human_cyto|AD2
PHENOTYPE: Alzheimer disease-2, late onset
PHENOTYPE_ID: 104310
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118748
PMID: 9931331
>>100
LOCUSID: 100
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000022|47078294|na
NP: NP_000013|47078295
CDD: pfam00962: Adenosine/AMP deaminase|23126|836|na|3.260970e+02
PRODUCT: adenosine deaminase
ASSEMBLY: BC040226,BI601734
CONTIG: NT_011362.8|29805814|na|8301079|8333258|-|20|reference
EVID: supported by alignment with mRNA
XM: NM_000022|47078294|na
XP: NP_000013|47078295|na
ACCNUM: M13792|178076|na|na|na
TYPE: g
PROT: AAA78791|178077|1
ACCNUM: X02189|28358|na|na|na
TYPE: g
PROT: CAA26130|1197210|1
ACCNUM: Z97053|9650676|na|na|na
TYPE: g
PROT: CAB09782|2813965|1
ACCNUM: AL832305|21732852|na|na|na
TYPE: m
ACCNUM: BC007678|33873727|na|na|na
TYPE: m
PROT: AAH07678|14043373|1
ACCNUM: BC040226|25955531|na|na|na
TYPE: m
PROT: AAH40226|25955532|1
ACCNUM: BI601734|15494673|na|na|na
TYPE: m
ACCNUM: X02994|28379|na|na|na
TYPE: m
PROT: CAA26734|28380|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P00813|113339|0
OFFICIAL_SYMBOL: ADA
OFFICIAL_GENE_NAME: adenosine deaminase
PREFERRED_PRODUCT: adenosine deaminase
SUMMARY: Summary: Adenosine deaminase catalyzes the hydrolysis of adenosine to inosine. ADA deficiency causes one form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins.
CHR: 20
STS: D20S1110|20|24021|D20S1110|seq_map|epcr
STS: GDB:180925|-|155130|na|na|epcr
COMP: 8|20|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=20&MAPS=genes-r-org/rat-chr/human%3A20,genes-r-org/mouse-chr/human%3A20,genes-r-org/human-chr20&query=e%3A100[id]+AND+gene[obj_type]&QSTR=ada&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenosine aminohydrolase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=407135
UNIGENE: Hs.407135
OMIM: 102700
ECNUM: 3.5.4.4
MAP: 20q12-q13.11|HUGO|C|
MAPLINK: default_human_gene|ADA
PHENOTYPE: Hemolytic anemia due to ADA excess
PHENOTYPE_ID: 102700
PHENOTYPE: Severe combined immunodeficiency due to ADA deficiency
PHENOTYPE_ID: 102700
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=100
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=100[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119649
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119649.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000022
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000022
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=102700
DB_DESCR: Genes and Disease
DB_LINK: http://www.ncbi.nlm.nih.gov/disease/SCImm.html
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+100
PMID: 12809673,12774669,12712614,12477932,12381379,12113294,12104097,11901152,8242080,7570001,6688808,6546794,6526272,6208479,6198240,6090454,3839802,3839456,3838797,3028473,1696926
GO: molecular function|adenosine deaminase activity|TAS|GO:0004000|GOA|7570001
GO: biological process|antimicrobial humoral response (sensu Vertebrata)|TAS|GO:0019735|GOA|7570001
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|nucleotide metabolism|IEA|GO:0009117|GOA|na
GO: biological process|purine ribonucleoside monophosphate biosynthesis|IEA|GO:0009168|GOA|na
>>101
LOCUSID: 101
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001109|4557252|na
NP: NP_001100|4557253
CDD: KOG3607: Meltrins, fertilins and related Zn-dependent metalloproteinases of the ADAMs family [Posttranslational modification, protein turnover, chaperones]|21388|1560|na|6.050800e+02
PRODUCT: a disintegrin and metalloproteinase domain 8 precursor
ASSEMBLY: D26579
CONTIG: NT_017795.16|37550477|na|231487|245909|-|10|reference
EVID: supported by alignment with mRNA
XM: NM_001109|4557252|na
XP: NP_001100|4557253|na
ACCNUM: BC064500|40555739|na|na|na
TYPE: m
ACCNUM: D26579|1864004|na|na|na
TYPE: m
PROT: BAA05626|1864005|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P78325|2499914|0
OFFICIAL_SYMBOL: ADAM8
OFFICIAL_GENE_NAME: a disintegrin and metalloproteinase domain 8
ALIAS_SYMBOL: MS2
ALIAS_SYMBOL: CD156
PREFERRED_PRODUCT: a disintegrin and metalloproteinase domain 8 precursor
SUMMARY: Summary: Members of ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. The extracellular region of ADAM8 shows significant amino acid sequence homology to hemorrhagic snake venom proteins, including the metalloprotease and disintegrin domains.
CHR: 10
STS: RH80752|10|83839|na|seq_map|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=86947
UNIGENE: Hs.86947
OMIM: 602267
MAP: 10q26.3|RefSeq|C|
MAPLINK: default_human_gene|ADAM8
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=101
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=101[loc]&TAXID=9606
BUTTON: prow.gif
LINK: http://www.ncbi.nlm.nih.gov/prow/guide/328103614_g.htm
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:4573992
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001109
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001109
PMID: 12477932,9126482
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9126482
GO: molecular function|metalloendopeptidase activity|IEA|GO:0004222|GOA|na
GO: biological process|proteolysis and peptidolysis|IEA|GO:0006508|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>102
LOCUSID: 102
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001110|4557250|na
NP: NP_001101|4557251
CDD: pfam00200: Disintegrin|25438|197|na|7.990870e+01
CDD: pfam01421: Reprolysin (M12B) family zinc metalloprotease|23198|156|na|6.406840e+01
CDD: KOG3658: Tumor necrosis factor-alpha-converting enzyme (TACE/ADAM17) and related metalloproteases [Extracellular structures]|21437|2444|na|9.455670e+02
PRODUCT: a disintegrin and metalloprotease domain 10
ASSEMBLY: AF009615
CONTIG: NT_010194.16|37540936|na|29641262|29832733|-|15|reference
EVID: supported by alignment with mRNA
XM: NM_001110|4557250|na
XP: NP_001101|4557251|na
ACCNUM: AF009615|2393946|na|na|na
TYPE: m
PROT: AAC51766|2393947|1
ACCNUM: Z48579|1616600|na|na|na
TYPE: m
PROT: CAA88463|1616601|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O14672|29337031|0
OFFICIAL_SYMBOL: ADAM10
OFFICIAL_GENE_NAME: a disintegrin and metalloproteinase domain 10
ALIAS_SYMBOL: kuz
ALIAS_SYMBOL: MADM
ALIAS_SYMBOL: HsT18717
ALIAS_SYMBOL: kuzbanian
PREFERRED_PRODUCT: a disintegrin and metalloprotease domain 10
SUMMARY: Summary: Members of ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. ADAM10 possesses many of the properties of a TNF-processing enzyme
CHR: 15
STS: D15S148|-|13751|D15S148|na|epcr
STS: D15S148|-|13752|D15S148|na|epcr
STS: SHGC-150627|-|173188|na|na|epcr
COMP: 865|15|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=15&MAPS=genes-r-org/rat-chr/human%3A15,genes-r-org/mouse-chr/human%3A15,genes-r-org/human-chr15&query=e%3A102[id]+AND+gene[obj_type]&QSTR=adam10&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: a disintegrin and metalloprotease domain 10
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172028
UNIGENE: Hs.172028
OMIM: 602192
MAP: 15q2|HUGO|C|15q22|RefSeq|C|
MAPLINK: default_human_gene|ADAM10
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=102
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=102[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5952565
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001110
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001110
DB_DESCR: PharmGKB: PA24505
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24505
PMID: 14707550,14636066,14627705,12960155,12832423,12815056,12782344,12730960,12714508,12665519,12629514,12568494,12535668,12475894,12438920,12176995,12080182,11839628,9618175,9344679,9305925,8694785,7593158
GO: cellular component|Golgi vesicle|IDA|GO:0005798|GOA|12475894
GO: biological process|Notch receptor processing|ISS|GO:0007220|GOA|na
GO: molecular function|SH2 domain binding|ISS|GO:0042169|GOA|na
GO: cellular component|cell surface|IDA|GO:0009986|GOA|12475894
GO: biological process|cell-cell signaling|NAS|GO:0007267|GOA|12714508
GO: biological process|embryonic development (sensu Mammalia)|ISS|GO:0001701|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9305925
GO: biological process|membrane protein ectodomain proteolysis|IDA|GO:0006509|GOA|12714508
GO: molecular function|metalloendopeptidase activity|IEA|GO:0004222|GOA|na
GO: biological process|negative regulation of cell adhesion|IDA|GO:0007162|GOA|12714508
GO: biological process|nucleocytoplasmic transport|ISS|GO:0006913|GOA|na
GO: cellular component|nucleus|ISS|GO:0005634|GOA|na
GO: biological process|protein amino acid phosphorylation|ISS|GO:0006468|GOA|na
GO: molecular function|protein binding|ISS|GO:0005515|GOA|na
GO: molecular function|protein homodimerization activity|ISS|GO:0042803|GOA|na
GO: molecular function|protein kinase binding|ISS|GO:0019901|GOA|na
GO: molecular function|receptor binding|NAS|GO:0005102|GOA|12176995
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>103
LOCUSID: 103
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001111|7669471|na
NP: NP_001102|4501917
CDD: pfam02295: Adenosine deaminase z-alpha domain|2806|216|na|8.729470e+01
CDD: smart00358: Double-stranded RNA binding motif|22772|182|na|7.416890e+01
CDD: KOG2777: tRNA-specific adenosine deaminase 1 [RNA processing and modification]|20563|195|na|7.925220e+01
CDD: smart00552: tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)|15021|1256|na|4.879070e+02
PRODUCT: adenosine deaminase, RNA-specific isoform ADAR-a
TRANSVAR: Transcript Variant: Transcript variant ADAR-a represents the most complete and predominant form of this gene.
ASSEMBLY: AH005822
NM: NM_015840|7669472|na
NP: NP_056655|7669473
CDD: pfam02295: Adenosine deaminase z-alpha domain|2806|216|na|8.729470e+01
CDD: smart00358: Double-stranded RNA binding motif|22772|182|na|7.416890e+01
CDD: KOG2777: tRNA-specific adenosine deaminase 1 [RNA processing and modification]|20563|195|na|7.925220e+01
CDD: smart00552: tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)|15021|1255|na|4.875220e+02
PRODUCT: adenosine deaminase, RNA-specific isoform ADAR-b
TRANSVAR: Transcript Variant: Transcript variant ADAR-b contains a deletion of 26 amino acids in exon 7 as compared to the full-length variant ADAR-a.
ASSEMBLY: AH005822
NM: NM_015841|7669474|na
NP: NP_056656|7669475
CDD: pfam02295: Adenosine deaminase z-alpha domain|2806|216|na|8.729470e+01
CDD: smart00358: Double-stranded RNA binding motif|22772|182|na|7.416890e+01
CDD: KOG2777: tRNA-specific adenosine deaminase 1 [RNA processing and modification]|20563|195|na|7.925220e+01
CDD: smart00552: tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)|15021|1254|na|4.871370e+02
PRODUCT: adenosine deaminase, RNA-specific isoform ADAR-c
TRANSVAR: Transcript Variant: Transcript variant ADAR-c contains a deletion of 19 amino acids in exon 6 and a deletion of 26 amino acids in exon 7, as compared to the full-length variant ADAR-a.
ASSEMBLY: AH005822
CONTIG: NT_079484.1|37549803|na|1004370|1030501|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_001111|7669471|na
XP: NP_001102|4501917|na
EVID: supported by alignment with mRNA
XM: NM_015840|7669472|na
XP: NP_056655|7669473|na
EVID: supported by alignment with mRNA
XM: NM_015841|7669474|na
XP: NP_056656|7669475|na
ACCNUM: U75503|2795787|na|na|na
TYPE: g
PROT: AAB97116|2795789|1
PROT: AAB97117|2795790|1
PROT: AAB97118|2795791|1
ACCNUM: BC017853|17389659|na|na|na
TYPE: m
ACCNUM: BC038227|23398521|na|na|na
TYPE: m
PROT: AAH38227|23398522|1
ACCNUM: BX538232|31874702|na|na|na
TYPE: m
PROT: CAD98075|31874703|1
ACCNUM: BX640741|34364835|na|na|na
TYPE: m
PROT: CAE45853|34364836|1
ACCNUM: U10439|577169|na|na|na
TYPE: m
PROT: AAB06697|577170|1
ACCNUM: U18121|915283|na|na|na
TYPE: m
PROT: AAC13782|915284|1
ACCNUM: X79448|2326523|na|na|na
TYPE: m
PROT: CAA55967|2326524|1
ACCNUM: X79449|2326525|na|na|na
TYPE: m
PROT: CAA55968|2326526|1
ACCNUM: X98559|12711290|na|na|na
TYPE: m
PROT: CAA67169|12711292|1
PROT: CAA67170|12711291|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P55265|38372880|0
OFFICIAL_SYMBOL: ADAR
OFFICIAL_GENE_NAME: adenosine deaminase, RNA-specific
ALIAS_SYMBOL: DSH
ALIAS_SYMBOL: ADAR1
ALIAS_SYMBOL: DRADA
ALIAS_SYMBOL: DSRAD
PREFERRED_PRODUCT: adenosine deaminase, RNA-specific isoform ADAR-a
PREFERRED_PRODUCT: adenosine deaminase, RNA-specific isoform ADAR-b
PREFERRED_PRODUCT: adenosine deaminase, RNA-specific isoform ADAR-c
SUMMARY: Summary: This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines.  This enzyme destabilizes double stranded RNA through conversion of adenosine to inosine.  Alternative splicing of this gene results in several transcript variants, three which are characterized by deletion of exons 6 and/or 7.
CHR: 1
STS: Cda01b01|1|5001|na|seq_map|epcr
STS: RH70556|1|12125|na|seq_map|epcr
STS: SHGC-12950|1|28089|na|seq_map|epcr
STS: A002O29|1|31936|na|seq_map|epcr
STS: SHGC-2343|1|76143|na|seq_map|epcr
STS: G62017|1|139096|na|seq_map|epcr
COMP: 9281|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A103[id]+AND+gene[obj_type]&QSTR=adar&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7957
UNIGENE: Hs.7957
OMIM: 601059
MAP: 1q21.1-q21.2|HUGO|C|
MAPLINK: default_human_gene|ADAR
PHENOTYPE: Dyschromatosis symmetrica hereditaria
PHENOTYPE_ID: 127400
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=103
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=103[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:439344
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001111
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001111
PMID: 15102079,14711814,12954622,12916015,12477932,12453429,12429827,12414985,12396729,11907222,11752786,9020165,8586444,7972084,7862132,7618288,7565688,7490742
GO: molecular function|DNA binding|IEA|GO:0003677|GOA|na
GO: biological process|antimicrobial humoral response (sensu Vertebrata)|TAS|GO:0019735|GOA|7618288
GO: molecular function|double-stranded RNA adenosine deaminase activity|TAS|GO:0003726|GOA|9020165
GO: molecular function|double-stranded RNA binding|IEA|GO:0003725|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|mRNA processing|IEA|GO:0006397|GOA|na
GO: cellular component|nucleus|TAS|GO:0005634|GOA|7862132
>>104
LOCUSID: 104
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001112|4501918|na
NP: NP_001103|4501919
CDD: cd00048: Double-stranded RNA binding motif|14786|117|na|4.920260e+01
CDD: smart00552: tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)|15021|1158|na|4.501570e+02
PRODUCT: RNA-specific adenosine deaminase  B1 isoform DRADA2a
TRANSVAR: Transcript Variant: Transcript variant DRADA2a lacks the ALU cassette insert but contains the long C-terminal region, as compared to the full-length variant DRADA2b.
ASSEMBLY: U76420
NM: NM_015833|7669476|na
NP: NP_056648|7669477
CDD: cd00048: Double-stranded RNA binding motif|14786|117|na|4.920260e+01
CDD: smart00552: tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)|15021|1119|na|4.351350e+02
PRODUCT: RNA-specific adenosine deaminase  B1 isoform DRABA2b
TRANSVAR: Transcript Variant: Transcript variant DRADA2b represents the most complete form of this gene. It includes the ALU cassette insert and the long C-terminal region.
ASSEMBLY: U76421
NM: NM_015834|7669478|na
NP: NP_056649|7669479
CDD: cd00048: Double-stranded RNA binding motif|14786|118|na|4.958780e+01
CDD: smart00552: tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)|15021|1032|na|4.016220e+02
PRODUCT: RNA-specific adenosine deaminase  B1 isoform DRADA2c
TRANSVAR: Transcript Variant: Transcript variant DRADA2c contains the ALU cassette insert and the short C-terminal region, as compared to the full-length variant DRADA2b.
ASSEMBLY: U76422
CONTIG: NT_011515.10|29806340|na|1807253|1959212|+|21|reference
EVID: supported by alignment with mRNA
XM: NM_001112|4501918|na
XP: NP_001103|4501919|na
EVID: supported by alignment with mRNA
XM: NM_015833|7669476|na
XP: NP_056648|7669477|na
EVID: supported by alignment with mRNA
XM: NM_015834|7669478|na
XP: NP_056649|7669479|na
ACCNUM: AL163301|7717439|na|na|na
TYPE: g
PROT: CAB90493|7717441|1
ACCNUM: Z95973|2661932|na|na|na
TYPE: g
ACCNUM: Z95974|2661933|na|na|na
TYPE: g
ACCNUM: Z95975|2661934|na|na|na
TYPE: g
ACCNUM: AF001042|2114492|na|na|na
TYPE: m
PROT: AAB58300|2114493|1
ACCNUM: AF525422|21954728|na|na|na
TYPE: m
PROT: AAM83100|21954729|1
ACCNUM: AF533142|22506828|na|na|na
TYPE: m
PROT: AAM97654|22506829|1
ACCNUM: AY082339|19918890|na|na|na
TYPE: m
PROT: AAL99252|19918891|1
ACCNUM: AY135659|23266658|na|na|na
TYPE: m
PROT: AAN10291|23266659|1
ACCNUM: BC065545|41351284|na|na|na
TYPE: m
PROT: AAH65545|41351285|1
ACCNUM: U76420|2039297|na|na|na
TYPE: m
PROT: AAC51240|2039298|1
ACCNUM: U76421|2039299|na|na|na
TYPE: m
PROT: AAC51241|2039300|1
ACCNUM: U76422|2039301|na|na|na
TYPE: m
PROT: AAC51242|2039302|1
ACCNUM: U82120|1766053|na|na|na
TYPE: m
PROT: AAB61686|1766054|1
ACCNUM: U82121|1766055|na|na|na
TYPE: m
PROT: AAB61687|1766056|1
ACCNUM: X99227|1707501|na|na|na
TYPE: m
PROT: CAA67611|1707502|1
ACCNUM: X99383|1707503|na|na|na
TYPE: m
PROT: CAA67762|1707504|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P78563|2829669|0
OFFICIAL_SYMBOL: ADARB1
OFFICIAL_GENE_NAME: adenosine deaminase, RNA-specific, B1 (RED1 homolog rat)
ALIAS_SYMBOL: RED1
ALIAS_SYMBOL: ADAR2
ALIAS_SYMBOL: DRABA2
ALIAS_SYMBOL: DRADA2
PREFERRED_PRODUCT: RNA-specific adenosine deaminase  B1 isoform DRABA2b
PREFERRED_PRODUCT: RNA-specific adenosine deaminase  B1 isoform DRADA2a
PREFERRED_PRODUCT: RNA-specific adenosine deaminase  B1 isoform DRADA2c
SUMMARY: Summary: This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines.  Alternative splicing of this gene results in several transcript variants, three which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region.
CHR: 21
STS: SHGC-87694|21|13608|na|seq_map|epcr
STS: Cda0pa11|21|74782|na|seq_map|epcr
STS: G23228|21|83279|na|seq_map|epcr
STS: ADARB1_1459|-|276972|na|na|epcr
COMP: 8280|21|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=21&MAPS=genes-r-org/rat-chr/human%3A21,genes-r-org/mouse-chr/human%3A21,genes-r-org/human-chr21&query=e%3A104[id]+AND+gene[obj_type]&QSTR=adarb1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: RNA editase
ALIAS_PROT: human dsRNA adenosine deaminase DRADA2b
ALIAS_PROT: adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=148822
UNIGENE: Hs.148822
OMIM: 601218
MAP: 21q22.3|RefSeq|C|
MAPLINK: default_human_gene|ADARB1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=104
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=104[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:3929206
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015833
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015833
DB_DESCR: PharmGKB: PA24556
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24556
PMID: 12859334,12477932,12414985,12163487,11907222,11717408,10830953,9330641,9149227,9143496,9113993,9111310,8995285,8559253
GO: molecular function|adenosine deaminase activity|TAS|GO:0004000|GOA|8995285
GO: biological process|central nervous system development|TAS|GO:0007417|GOA|9111310
GO: molecular function|double-stranded RNA binding|TAS|GO:0003725|GOA|8995285
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|mRNA processing|IEA|GO:0006397|GOA|na
GO: cellular component|nucleus|TAS|GO:0005634|GOA|8995285
>>105
LOCUSID: 105
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_018702|8922076|na
NP: NP_061172|8922077
CDD: cd00048: Double-stranded RNA binding motif|14786|167|na|6.846260e+01
CDD: KOG2777: tRNA-specific adenosine deaminase 1 [RNA processing and modification]|20563|151|na|6.230350e+01
CDD: smart00552: tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)|15021|1177|na|4.574760e+02
PRODUCT: adenosine deaminase, RNA-specific, B2
ASSEMBLY: AF034837
CONTIG: NT_077567.3|37551026|na|1168073|1719670|-|10|reference
EVID: supported by alignment with mRNA
XM: NM_018702|8922076|na
XP: NP_061172|8922077|na
ACCNUM: AF034837|8650030|na|na|na
TYPE: m
PROT: AAF78094|8650031|1
ACCNUM: AK055107|16549765|na|na|na
TYPE: m
ACCNUM: BC047443|28704067|na|na|na
TYPE: m
PROT: AAH47443|28704068|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q9NS39|33112436|0
OFFICIAL_SYMBOL: ADARB2
OFFICIAL_GENE_NAME: adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)
ALIAS_SYMBOL: RED2
ALIAS_SYMBOL: ADAR3
ALIAS_SYMBOL: hRED2
PREFERRED_PRODUCT: adenosine deaminase, RNA-specific, B2
CHR: 10
STS: SGC36944|10|58175|na|seq_map|epcr
COMP: 10276|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A105[id]+AND+gene[obj_type]&QSTR=adarb2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: homolog of rat BLUE
ALIAS_PROT: double-stranded RNA specific adenosine deaminase
ALIAS_PROT: adenosine deaminase, RNA-specific, B2 (RED1 homolog rat)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=192731
UNIGENE: Hs.192731
OMIM: 602065
MAP: 10p15.3|RefSeq|C|
MAPLINK: default_human_gene|ADARB2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=105
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=105[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:3929209
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_018702
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_018702
PMID: 14702039,12477932,10836796,9272162,8889549
GO: molecular function|adenosine deaminase activity|TAS|GO:0004000|GOA|10836796
GO: molecular function|double-stranded RNA binding|TAS|GO:0003725|GOA|10836796
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|mRNA editing|TAS|GO:0006381|GOA|10836796
GO: biological process|mRNA processing|IEA|GO:0006397|GOA|na
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: molecular function|single-stranded RNA binding|TAS|GO:0003727|GOA|10836796
>>106
LOCUSID: 106
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ADCP1
OFFICIAL_GENE_NAME: adenosine deaminase complexing protein 1
CHR: 6
OMIM: 102710
MAP: 6|RefSeq|C|
MAPLINK: default_human_cyto|ADCP1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118975
PMID: 279003
>>107
LOCUSID: 107
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_021116|31083192|na
NP: NP_066939|31083193
CDD: pfam00211: Adenylate and Guanylate cyclase catalytic domain|778|578|na|2.266500e+02
CDD: KOG3619: Adenylate/guanylate cyclase [Energy production and conversion]|21400|2487|na|9.620970e+02
PRODUCT: brain adenylate cyclase 1
ASSEMBLY: AF497515,AK024415,AK055343,AK095518,AL707720,AW956248,BC036858,BU181704,L05500
CONTIG: NT_007819.14|37538470|na|44906237|45054828|+|7|reference
EVID: supported by alignment with mRNA
XM: NM_021116|31083192|na
XP: NP_066939|31083193|na
CONTIG: NT_079592.1|37538986|na|44985455|45134156|+|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_021116|31083192|na
XP: NP_066939|31083193|na
ACCNUM: AF497515|22212706|na|na|na
TYPE: m
PROT: AAM94372|22212707|1
ACCNUM: AK024415|10436803|na|na|na
TYPE: m
ACCNUM: AK055343|16550050|na|na|na
TYPE: m
ACCNUM: AK095518|21754790|na|na|na
TYPE: m
ACCNUM: AK095665|21754973|na|na|na
TYPE: m
ACCNUM: AL707720|19691075|na|na|na
TYPE: m
ACCNUM: AW956248|8145931|na|na|na
TYPE: m
ACCNUM: BC036858|22477693|na|na|na
TYPE: m
ACCNUM: BC041473|27552823|na|na|na
TYPE: m
ACCNUM: BU181704|22695688|na|na|na
TYPE: m
ACCNUM: L05500|349268|na|na|na
TYPE: m
PROT: AAA02907|349269|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q08828|585023|0
OFFICIAL_SYMBOL: ADCY1
OFFICIAL_GENE_NAME: adenylate cyclase 1 (brain)
PREFERRED_PRODUCT: brain adenylate cyclase 1
SUMMARY: Summary: This gene encodes a form of adenylate cyclase expressed in brain. A similar protein in mouse is involved in pattern formation of the brain.
CHR: 7
STS: G19797|-|17206|na|na|epcr
STS: A001Y39|7|17207|na|seq_map|epcr
STS: WI-11127|7|31176|na|seq_map|epcr
STS: SHGC-57854|7|41834|na|seq_map|epcr
STS: D7S536E|7|53992|D7S536E|seq_map|epcr
STS: A008R05|7|68992|na|seq_map|epcr
STS: RH99222|7|83875|na|seq_map|epcr
STS: RH80785|7|88299|na|seq_map|epcr
COMP: 10896|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A107[id]+AND+gene[obj_type]&QSTR=adcy1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenyl cyclase
ALIAS_PROT: ATP pyrophosphate-lyase
ALIAS_PROT: adenylate cyclase type I
ALIAS_PROT: 3',5'-cyclic AMP synthetase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=259768
UNIGENE: Hs.259768
OMIM: 103072
ECNUM: 4.6.1.1
MAP: 7p13-p12|HUGO|C|
MAPLINK: default_human_gene|ADCY1
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_066939|brain adenylate cyclase 1|HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection|11299302
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=107
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=107[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:134407
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021116
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021116
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+107
PMID: 14702039,12743114,12477932,11299302,8314585,7959689
GO: biological process|cAMP biosynthesis|NAS|GO:0006171|GOA|na
GO: molecular function|calcium- and calmodulin-responsive adenylate cyclase activity|NAS|GO:0008294|GOA|8314585
GO: molecular function|calmodulin binding|NAS|GO:0005516|GOA|na
GO: molecular function|guanylate cyclase activity|IEA|GO:0004383|GOA|na
GO: cellular component|integral to membrane|NAS|GO:0016021|GOA|na
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
>>108
LOCUSID: 108
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_020546|25952130|na
NP: NP_065433|25952131
CDD: pfam00211: Adenylate and Guanylate cyclase catalytic domain|778|527|na|2.070050e+02
CDD: KOG3619: Adenylate/guanylate cyclase [Energy production and conversion]|21400|2527|na|9.775050e+02
PRODUCT: adenylate cyclase 2
ASSEMBLY: AB028983,BE677757,BK000372
CONTIG: NT_023089.13|29796148|na|7379083|7812932|+|5|reference
EVID: supported by alignment with mRNA
XM: NM_020546|25952130|na
XP: NP_065433|25952131|na
ACCNUM: AB028983|5689456|na|na|na
TYPE: m
PROT: BAA83012|5689457|1
ACCNUM: AF070583|3387955|na|na|na
TYPE: m
PROT: AAC28647|3387956|1
ACCNUM: AF410885|33150813|na|na|na
TYPE: m
PROT: AAP97285|33150814|1
ACCNUM: BE677757|10038372|na|na|na
TYPE: m
ACCNUM: BK000372|22212914|na|na|na
TYPE: m
PROT: DAA00058|22212915|1
ACCNUM: L21993|347105|na|na|na
TYPE: m
PROT: AAA64923|763444|1
ACCNUM: X74210|395274|na|na|na
TYPE: m
PROT: CAA52282|395275|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q08462|34223735|0
OFFICIAL_SYMBOL: ADCY2
OFFICIAL_GENE_NAME: adenylate cyclase 2 (brain)
ALIAS_SYMBOL: HBAC2
ALIAS_SYMBOL: KIAA1060
PREFERRED_PRODUCT: adenylate cyclase 2
SUMMARY: Summary: This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. It is expressed in brain.
CHR: 5
STS: D5S1866|5|41386|D5S1866|seq_map|epcr
STS: STS-L21993|5|47387|na|seq_map|epcr
COMP: 23234|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A108[id]+AND+gene[obj_type]&QSTR=adcy2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenylyl cyclase 2
ALIAS_PROT: adenylate cyclase II
ALIAS_PROT: ATP pyrophosphate-lyase
ALIAS_PROT: type II adenylate cyclase
ALIAS_PROT: 3',5'-cyclic AMP synthetase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=414591
UNIGENE: Hs.414591
OMIM: 103071
ECNUM: 4.6.1.1
MAP: 5p15.3|RefSeq|C|
MAPLINK: default_human_gene|ADCY2
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_065433|adenylate cyclase 2|HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection|11299302
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=108
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=108[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136978
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020546
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020546
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+108
PMID: 11299302,10470851,9110174,8619474,7959689,1427768
GO: molecular function|adenylate cyclase activity|NAS|GO:0004016|GOA|1427768
GO: biological process|cAMP biosynthesis|NAS|GO:0006171|GOA|na
GO: molecular function|guanylate cyclase activity|IEA|GO:0004383|GOA|na
GO: cellular component|integral to membrane|NAS|GO:0016021|GOA|na
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
>>109
LOCUSID: 109
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004036|10947058|na
NP: NP_004027|4757724
CDD: pfam00211: Adenylate and Guanylate cyclase catalytic domain|778|514|na|2.019970e+02
CDD: KOG3619: Adenylate/guanylate cyclase [Energy production and conversion]|21400|2322|na|8.985390e+02
PRODUCT: adenylate cyclase 3
ASSEMBLY: AB011083,AF033861
CONTIG: NT_022184.13|37547123|na|3857974|3957936|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_004036|10947058|na
XP: NP_004027|4757724|na
ACCNUM: AB011083|3043545|na|na|na
TYPE: m
PROT: BAA25437|3043546|1
ACCNUM: AF033861|4104225|na|na|na
TYPE: m
PROT: AAD13403|4104226|1
ACCNUM: AF087963|3523169|na|na|na
TYPE: m
ACCNUM: AK027857|14042839|na|na|na
TYPE: m
ACCNUM: AK075424|22761504|na|na|na
TYPE: m
PROT: BAC11613|22761505|1
ACCNUM: AK095173|21754373|na|na|na
TYPE: m
ACCNUM: AK122926|34528371|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O60266|13878450|0
OFFICIAL_SYMBOL: ADCY3
OFFICIAL_GENE_NAME: adenylate cyclase 3
ALIAS_SYMBOL: AC3
ALIAS_SYMBOL: KIAA0511
PREFERRED_PRODUCT: adenylate cyclase 3
SUMMARY: Summary: This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes.
CHR: 2
STS: D5S2617|2|2730|D5S2617|seq_map|epcr
STS: A006F11|2|74459|na|seq_map|epcr
STS: RH80427|2|91217|na|seq_map|epcr
STS: G32338|2|116930|na|seq_map|epcr
STS: ADCY3_1034|-|276974|na|na|epcr
STS: ADCY3_2051|-|280433|na|na|epcr
COMP: 2978|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A109[id]+AND+gene[obj_type]&QSTR=adcy3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ATP pyrophosphate-lyase
ALIAS_PROT: adenylyl cyclase, type III
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=188402
UNIGENE: Hs.188402
OMIM: 600291
ECNUM: 4.6.1.1
MAP: 2p24-p22|HUGO|C|
MAPLINK: default_human_gene|ADCY3
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_004027|adenylate cyclase 3|HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection|11299302
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=109
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=109[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371616
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004036
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004036
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA0511
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+109
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+109
DB_DESCR: PharmGKB: PA26
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26
PMID: 14702039,12782409,12623444,11299302,9920776,9628581,8034296,7959689
GO: molecular function|adenylate cyclase activity|TAS|GO:0004016|GOA|9920776
GO: biological process|cAMP biosynthesis|IEA|GO:0006171|GOA|na
GO: molecular function|calmodulin binding|IEA|GO:0005516|GOA|na
GO: molecular function|guanylate cyclase activity|IEA|GO:0004383|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9920776
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|perception of smell|IEA|GO:0007608|GOA|na
>>110
LOCUSID: 110
CURRENT_LOCUSID: 196883
ORGANISM: Homo sapiens
>>111
LOCUSID: 111
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_183357|34486091|na
NP: NP_899200|34486092
CDD: pfam00211: Adenylate and Guanylate cyclase catalytic domain|778|549|na|2.154790e+02
CDD: KOG3619: Adenylate/guanylate cyclase [Energy production and conversion]|21400|2612|na|1.010250e+03
PRODUCT: adenylate cyclase 5
ASSEMBLY: AF497517,BK000371
CONTIG: NT_005612.14|37550867|na|29498545|29662538|-|3|reference
EVID: supported by alignment with mRNA
XM: NM_183357|34486091|na
XP: NP_899200|34486092|na
ACCNUM: AF497517|22212710|na|na|na
TYPE: m
PROT: AAM94374|22212711|1
ACCNUM: AK093840|21752783|na|na|na
TYPE: m
ACCNUM: AK098381|21758383|na|na|na
TYPE: m
ACCNUM: AK124691|34530549|na|na|na
TYPE: m
ACCNUM: BK000371|22212912|na|na|na
TYPE: m
PROT: DAA00057|22212913|1
ACCNUM: BX647739|34366896|na|na|na
TYPE: m
ACCNUM: U65473|4097593|na|na|na
TYPE: m
PROT: AAD00121|4097594|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O95622|25014055|0
OFFICIAL_SYMBOL: ADCY5
OFFICIAL_GENE_NAME: adenylate cyclase 5
PREFERRED_PRODUCT: adenylate cyclase 5
CHR: 3
STS: D3S2896E|3|36619|D3S2896E|seq_map|epcr
STS: RH91460|3|89373|na|seq_map|epcr
COMP: 11213|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A111[id]+AND+gene[obj_type]&QSTR=adcy5&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenylate cyclase, type V
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=477365
UNIGENE: Hs.477365
OMIM: 600293
ECNUM: 4.6.1.1
MAP: 3q13.2-q21|HUGO|C|
MAPLINK: default_human_gene|ADCY5
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_899200|adenylate cyclase 5|HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection|11299302
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=111
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=111[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371619
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183357
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183357
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+111
PMID: 14702039,12604604,12503609,11299302,10481931,8034296
GO: molecular function|guanylate cyclase activity|IEA|GO:0004383|GOA|na
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
>>112
LOCUSID: 112
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_015270|10947059|na
NP: NP_056085|10181096
CDD: pfam00211: Adenylate and Guanylate cyclase catalytic domain|778|537|na|2.108570e+02
CDD: KOG3619: Adenylate/guanylate cyclase [Energy production and conversion]|21400|2617|na|1.012170e+03
PRODUCT: adenylate cyclase 6 isoform a
TRANSVAR: Transcript Variant: This variant (1) has an alternate 5' UTR and contains an in-frame fragment of 159 bp in the coding region, as compared to variant 2. Isoform a encoded by this variant thus has the same N- and C- termini as isoform b encoded by variant 2, but is 53 aa longer.
ASSEMBLY: AB007882,AF250226
NM: NM_020983|21071019|na
NP: NP_066193|10947061
CDD: pfam00211: Adenylate and Guanylate cyclase catalytic domain|778|536|na|2.104720e+02
CDD: KOG3619: Adenylate/guanylate cyclase [Energy production and conversion]|21400|2632|na|1.017950e+03
PRODUCT: adenylate cyclase 6 isoform b
TRANSVAR: Transcript Variant: This variant (2) has a different and shorter 5' UTR and lacks an in-frame fragment of 159 bp in the coding region, as compared to variant 1. Isoform b encoded by this variant has the same N- and C- termini as isoform a encoded by variant 1, but lacks internal 53 aa.
ASSEMBLY: AB007882
CONTIG: NT_029419.10|29803948|na|11303287|11326126|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_015270|10947059|na
XP: NP_056085|10181096|na
EVID: supported by alignment with mRNA
XM: NM_020983|21071019|na
XP: NP_066193|10947061|na
ACCNUM: AF250227|9049784|na|na|na
TYPE: g
PROT: AAF82479|9049785|1
ACCNUM: AB007882|20521044|na|na|na
TYPE: m
PROT: BAA24852|20521045|2
ACCNUM: AF250226|9049782|na|na|na
TYPE: m
PROT: AAF82478|9049783|1
ACCNUM: BC064923|40674038|na|na|na
TYPE: m
PROT: AAH64923|40674039|1
ACCNUM: U65474|4097595|na|na|na
TYPE: m
PROT: AAD00122|4097596|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O43306|12644065|0
OFFICIAL_SYMBOL: ADCY6
OFFICIAL_GENE_NAME: adenylate cyclase 6
ALIAS_SYMBOL: KIAA0422
PREFERRED_PRODUCT: adenylate cyclase 6 isoform a
PREFERRED_PRODUCT: adenylate cyclase 6 isoform b
SUMMARY: Summary: This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants.
CHR: 12
STS: A006M44|12|8135|na|seq_map|epcr
STS: RH78534|12|50189|na|seq_map|epcr
COMP: 22400|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A112[id]+AND+gene[obj_type]&QSTR=adcy6&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=12373
UNIGENE: Hs.12373
OMIM: 600294
ECNUM: 4.6.1.1
MAP: 12q12-q13|HUGO|C|
MAPLINK: default_human_gene|ADCY6
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_056085|adenylate cyclase 6|HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection|11299302
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=112
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=112[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371620
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015270
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015270
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA0422
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+112
PMID: 14871025,12782409,12477932,11299302,10978539,10481931,9455477,8034296,7959689
GO: molecular function|adenylate cyclase activity|IEA|GO:0004016|GOA|na
GO: biological process|cAMP biosynthesis|IEA|GO:0006171|GOA|na
GO: molecular function|guanylate cyclase activity|IEA|GO:0004383|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
>>113
LOCUSID: 113
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001114|41327757|na
NP: NP_001105|4557255
CDD: pfam06327: Domain of Unknown Function (DUF1053)|25199|316|na|1.259240e+02
CDD: pfam00211: Adenylate and Guanylate cyclase catalytic domain|25444|532|na|2.089240e+02
CDD: KOG3619: Adenylate/guanylate cyclase [Energy production and conversion]|21400|2645|na|1.022960e+03
PRODUCT: adenylate cyclase 7
ASSEMBLY: BC039891,BM543987,BU631614,D25538
CONTIG: NT_010505.14|37541553|na|2430396|2460620|+|16|reference
EVID: supported by alignment with mRNA
XM: NM_001114|41327757|na
XP: NP_001105|4557255|na
ACCNUM: BC039891|25058300|na|na|na
TYPE: m
PROT: AAH39891|25058301|1
ACCNUM: BM543987|18774861|na|na|na
TYPE: m
ACCNUM: BU631614|23298869|na|na|na
TYPE: m
ACCNUM: D25538|436217|na|na|na
TYPE: m
PROT: BAA05021|40788941|2
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P51828|1706218|0
OFFICIAL_SYMBOL: ADCY7
OFFICIAL_GENE_NAME: adenylate cyclase 7
ALIAS_SYMBOL: KIAA0037
PREFERRED_PRODUCT: adenylate cyclase 7
SUMMARY: Summary: This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences.
CHR: 16
STS: G10670|16|60219|na|seq_map|epcr
STS: D16S2967|16|76377|D16S2967|seq_map|epcr
STS: RH25275|16|85793|na|seq_map|epcr
STS: GDB:511421|16|157509|na|seq_map|epcr
COMP: 866|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A113[id]+AND+gene[obj_type]&QSTR=adcy7&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenylyl cyclase
ALIAS_PROT: ATP pyrophosphate-lyase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172199
UNIGENE: Hs.172199
OMIM: 600385
ECNUM: 4.6.1.1
MAP: 16q12-q13|HUGO|C|
MAPLINK: default_human_gene|ADCY7
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_001105|adenylate cyclase 7|HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection|11299302
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=113
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=113[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371621
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001114
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001114
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA0037
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+113
DB_DESCR: PharmGKB: PA28
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28
PMID: 12477932,11665607,11299302,7860067,7584028,7584026
GO: molecular function|adenylate cyclase activity|IEA|GO:0004016|GOA|na
GO: biological process|cAMP biosynthesis|IEA|GO:0006171|GOA|na
GO: molecular function|guanylate cyclase activity|IEA|GO:0004383|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|7860067
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
>>114
LOCUSID: 114
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001115|4557256|na
NP: NP_001106|4557257
CDD: pfam00211: Adenylate and Guanylate cyclase catalytic domain|778|552|na|2.166350e+02
CDD: KOG3619: Adenylate/guanylate cyclase [Energy production and conversion]|21400|2598|na|1.004850e+03
PRODUCT: adenylate cyclase 8
ASSEMBLY: Z35309
CONTIG: NT_008046.14|37555983|na|44986855|45272851|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_001115|4557256|na
XP: NP_001106|4557257|na
ACCNUM: M83533|178541|na|na|na
TYPE: m
PROT: AAA35523|7687910|2
ACCNUM: Z35309|516262|na|na|na
TYPE: m
PROT: CAA84552|516263|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P40145|729242|0
OFFICIAL_SYMBOL: ADCY8
OFFICIAL_GENE_NAME: adenylate cyclase 8 (brain)
ALIAS_SYMBOL: ADCY3
ALIAS_SYMBOL: HBAC1
PREFERRED_PRODUCT: adenylate cyclase 8
SUMMARY: Summary: Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase
CHR: 8
STS: SHGC-36821|8|6180|na|seq_map|epcr
COMP: 867|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A114[id]+AND+gene[obj_type]&QSTR=adcy8&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Adenylyl cyclase-8, brain
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511773
UNIGENE: Hs.511773
OMIM: 103070
ECNUM: 4.6.1.1
MAP: 8q24|HUGO|C|
MAPLINK: default_human_gene|ADCY8
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_001106|adenylate cyclase 8|HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection|11299302
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=114
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=114[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136979
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001115
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001115
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+114
DB_DESCR: PharmGKB: PA29
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA29
PMID: 12890691,11299302,8163524,8076676,1715695,1427768
GO: biological process|cAMP biosynthesis|IEA|GO:0006171|GOA|na
GO: molecular function|calcium- and calmodulin-responsive adenylate cyclase activity|TAS|GO:0008294|GOA|8163524
GO: molecular function|guanylate cyclase activity|IEA|GO:0004383|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: biological process|learning and/or memory|TAS|GO:0007611|GOA|8076676
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|8163524
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|8076676
>>115
LOCUSID: 115
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001116|50959204|na
NP: NP_001107|50959205
CDD: smart00044: Adenylyl- / guanylyl cyclase, catalytic domain|37|425|na|1.677700e+02
PRODUCT: adenylate cyclase 9
ASSEMBLY: AH010599,AW518323
CONTIG: NT_010552.13|29809129|na|1356330|1506885|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_001116|50959204|na
XP: NP_001107|50959205|na
ACCNUM: AY028959|13549246|na|na|na
TYPE: g
PROT: AAK29464|13549247|1
ACCNUM: AB011092|20521066|na|na|na
TYPE: m
PROT: BAA25446|20521067|2
ACCNUM: AF036927|3138931|na|na|na
TYPE: m
PROT: AAC24201|3138932|1
ACCNUM: AJ133123|6687815|na|na|na
TYPE: m
PROT: CAB65084|6687816|1
ACCNUM: AW518323|7156405|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O60503|27151764|0
OFFICIAL_SYMBOL: ADCY9
OFFICIAL_GENE_NAME: adenylate cyclase 9
PREFERRED_PRODUCT: adenylate cyclase 9
SUMMARY: Summary: Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin.
CHR: 16
STS: RH15630|16|12056|na|seq_map|epcr
STS: 1952|16|43021|na|seq_map|epcr
STS: STS-Z40718|16|46581|na|seq_map|epcr
STS: ADCY9_213|-|276976|na|na|epcr
COMP: 868|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A115[id]+AND+gene[obj_type]&QSTR=adcy9&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: type IX adenylyl cyclase
ALIAS_PROT: type IX ATP pyrophosphate-lyase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=20196
UNIGENE: Hs.20196
OMIM: 603302
ECNUM: 4.6.1.1
MAP: 16p13.3|RefSeq|C|
MAPLINK: default_human_gene|ADCY9
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_001107|adenylate cyclase 9|HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection|11299302
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=115
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=115[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:139183
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001116
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001116
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+115
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+115
PMID: 12082561,11840511,11299302,9628827,9628581,8662814,7575502
GO: molecular function|adenylate cyclase activity|TAS|GO:0004016|GOA|9628827
GO: biological process|cAMP biosynthesis|IEA|GO:0006171|GOA|na
GO: molecular function|guanylate cyclase activity|IEA|GO:0004383|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9628827
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: molecular function|isomerase activity|IEA|GO:0016853|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: molecular function|peptidyl-prolyl cis-trans isomerase activity|IEA|GO:0003755|GOA|na
GO: biological process|protein folding|IEA|GO:0006457|GOA|na
>>116
LOCUSID: 116
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001117|10947062|na
NP: NP_001108|4501921
CDD: pfam00123: Peptide hormone|9070|105|na|4.427790e+01
PRODUCT: adenylate cyclase activating polypeptide precursor
ASSEMBLY: X60435
CONTIG: NT_010859.13|37545150|na|895387|901054|+|18|reference
EVID: supported by alignment with mRNA
XM: NM_001117|10947062|na
XP: NP_001108|4501921|na
ACCNUM: X60435|35229|na|na|na
TYPE: g
PROT: CAA42962|1132550|1
ACCNUM: Z64808|1037630|na|na|na
TYPE: g
ACCNUM: S83513|245805|na|na|na
TYPE: m
PROT: AAB21470|245806|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P18509|1171982|0
OFFICIAL_SYMBOL: ADCYAP1
OFFICIAL_GENE_NAME: adenylate cyclase activating polypeptide 1 (pituitary)
ALIAS_SYMBOL: PACAP
PREFERRED_PRODUCT: adenylate cyclase activating polypeptide precursor
SUMMARY: Summary:  This gene encodes adenylate cyclase activating polypeptide 1. Mediated by adenylate cyclase activating polypeptide 1 receptors, this polypeptide stimulates adenylate cyclase and subsequently increases the cAMP level in target cells. Adenylate cyclase activating polypeptide 1 is not only a hypophysiotropic hormone, but also functions as a neurotransmitter and neuromodulator. In addition, it plays a role in paracrine and autocrine regulation of certain types of cells. This gene is composed of five exons. Exons 1 and 2 encode the 5' UTR and signal peptide, respectively; exon 4 encodes an adenylate cyclase activating polypeptide 1-related peptide; and exon 5 encodes the mature peptide and 3' UTR. This gene encodes three different mature peptides, including two isotypes: a shorter form and a longer form.
CHR: 18
STS: D18S1372|18|3358|D18S1372|seq_map|epcr
STS: RH17915|18|19738|na|seq_map|epcr
STS: D18S1231|18|60209|D18S1231|seq_map|epcr
STS: GDB:197131|18|155928|na|seq_map|epcr
COMP: 869|18|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=18&MAPS=genes-r-org/rat-chr/human%3A18,genes-r-org/mouse-chr/human%3A18,genes-r-org/human-chr18&query=e%3A116[id]+AND+gene[obj_type]&QSTR=adcyap1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=68137
UNIGENE: Hs.68137
OMIM: 102980
MAP: 18p11|HUGO|C|
MAPLINK: default_human_gene|ADCYAP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=116
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=116[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128626
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001117
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001117
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+116
PMID: 12409225,12409223,12145407,11713978,10921074,10698193,10562300,8394765,8353512,2302217,1739432,1730060
GO: biological process|adenylate cyclase activation|TAS|GO:0007190|GOA|1730060
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|2302217
GO: cellular component|extracellular|IEA|GO:0005576|GOA|na
GO: molecular function|neuropeptide hormone activity|TAS|GO:0005184|GOA|2302217
GO: biological process|pregnancy|TAS|GO:0007565|GOA|10698193
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|10698193
>>117
LOCUSID: 117
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001118|34398688|na
NP: NP_001109|29171759
CDD: KOG4564: Adenylate cyclase-coupled calcitonin receptor [Signal transduction mechanisms]|22339|1164|na|4.525050e+02
PRODUCT: type I adenylate cyclase activating polypeptide receptor precursor
ASSEMBLY: AI815550,D17516
CONTIG: NT_007819.14|37538470|na|30385750|30439919|+|7|reference
EVID: supported by alignment with mRNA
XM: NM_001118|34398688|na
XP: NP_001109|29171759|na
CONTIG: NT_079592.1|37538986|na|30487560|30541729|+|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001118|34398688|na
XP: NP_001109|29171759|na
ACCNUM: AB065700|21928670|na|na|na
TYPE: g
PROT: BAC05923|21928671|1
ACCNUM: U09216|505973|na|na|na
TYPE: g
PROT: AAA19323|505974|1
ACCNUM: AI815550|5431096|na|na|na
TYPE: m
ACCNUM: AY366498|34484349|na|na|na
TYPE: m
PROT: AAQ72806|34484350|1
ACCNUM: D17516|457562|na|na|na
TYPE: m
PROT: BAA04466|540518|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P41586|1171986|0
OFFICIAL_SYMBOL: ADCYAP1R1
OFFICIAL_GENE_NAME: adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
ALIAS_SYMBOL: PACAPR
ALIAS_SYMBOL: PACAPRI
PREFERRED_PRODUCT: type I adenylate cyclase activating polypeptide receptor precursor
SUMMARY: Summary: This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Alternative splicing of two exons of this gene generates four major splice variants, but their full-length nature has not been determined.
CHR: 7
COMP: 870|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A117[id]+AND+gene[obj_type]&QSTR=adcyap1r1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=377783
UNIGENE: Hs.377783
OMIM: 102981
MAP: 7p14|RefSeq|C|
MAPLINK: default_human_gene|ADCYAP1R1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=117
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=117[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:252253
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001118
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001118
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+117
PMID: 14742913,12948842,12732341,12573802,12409233,12409223,11930171,10562300,8954788,8703026,8663363,7902709,7851900
GO: molecular function|G-protein coupled receptor activity|IEA|GO:0004930|GOA|na
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|7902709
GO: molecular function|receptor activity|TAS|GO:0004872|GOA|7902709
GO: biological process|spermatogenesis|IEA|GO:0007283|GOA|na
GO: molecular function|vasoactive intestinal polypeptide receptor activity|IEA|GO:0004999|GOA|na
>>118
LOCUSID: 118
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001119|29826318|na
NP: NP_001110|29826319
CDD: pfam00596: Class II Aldolase and Adducin N-terminal domain|7685|529|na|2.078070e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1288|na|5.004180e+02
PRODUCT: adducin 1 (alpha) isoform a
TRANSVAR: Transcript Variant: This variant (1) utilizes an in-frame alternate splice site in the coding region, compared to variant 2. This results in a shorter protein (isoform a), compared to isoform b.
ASSEMBLY: D44632,X58141
NM: NM_014189|29826320|na
NP: NP_054908|29826321
CDD: pfam00596: Class II Aldolase and Adducin N-terminal domain|7685|527|na|2.070370e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1254|na|4.873210e+02
PRODUCT: adducin 1 (alpha) isoform b
TRANSVAR: Transcript Variant: This variant (2) encodes the longest isoform (b).
ASSEMBLY: D44632,L07261,X58141
NM: NM_014190|29826322|na
NP: NP_054909|29826323
CDD: pfam00596: Class II Aldolase and Adducin N-terminal domain|7685|529|na|2.078070e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1221|na|4.746090e+02
PRODUCT: adducin 1 (alpha) isoform c
TRANSVAR: Transcript Variant: This variant (3) includes an additional exon in the 3' coding region, which results in a frameshift, compared to variant 2.  The encoded protein (isoform c) contains an early stop codon and shorter C-terminus, compared to isoform b.
ASSEMBLY: D44632,L07261,X58141
NM: NM_176801|29826324|na
NP: NP_789771|29826325
CDD: pfam00596: Class II Aldolase and Adducin N-terminal domain|7685|527|na|2.070370e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1187|na|4.615120e+02
PRODUCT: adducin 1 (alpha) isoform d
TRANSVAR: Transcript Variant: This variant (4) utilizes an alternate splice site and includes an additional exon in the coding region, which results in a frameshift, compared to variant 2. The encoded protein (isoform d) contains an early stop codon and shorter C-terminus, compared to isoform b.
ASSEMBLY: AH003627,D44632
CONTIG: NT_006081.16|37540627|na|232163|318367|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_001119|29826318|na
XP: NP_001110|29826319|na
EVID: supported by alignment with mRNA
XM: NM_014189|29826320|na
XP: NP_054908|29826321|na
EVID: supported by alignment with mRNA
XM: NM_014190|29826322|na
XP: NP_054909|29826323|na
EVID: supported by alignment with mRNA
XM: NM_176801|29826324|na
XP: NP_789771|29826325|na
ACCNUM: L29296|559042|na|na|na
TYPE: g
PROT: AAB05645|559044|1
ACCNUM: Z74617|1405888|na|na|na
TYPE: g
PROT: CAA98970|1405889|1
ACCNUM: AK025413|10437921|na|na|na
TYPE: m
ACCNUM: BC013393|33869910|na|na|na
TYPE: m
PROT: AAH13393|15426553|1
ACCNUM: BC042998|28175763|na|na|na
TYPE: m
PROT: AAH42998|28175764|1
ACCNUM: D44632|1572107|na|na|na
TYPE: m
ACCNUM: L07261|178087|na|na|na
TYPE: m
ACCNUM: S70312|547003|na|na|na
TYPE: m
PROT: AAB30913|547004|1
ACCNUM: S70314|547007|na|na|na
TYPE: m
PROT: AAB30914|7690078|2
ACCNUM: X58141|28381|na|na|na
TYPE: m
PROT: CAA41149|28382|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35611|12644231|0
OFFICIAL_SYMBOL: ADD1
OFFICIAL_GENE_NAME: adducin 1 (alpha)
ALIAS_SYMBOL: ADDA
ALIAS_SYMBOL: MGC3339
ALIAS_SYMBOL: MGC44427
PREFERRED_PRODUCT: adducin 1 (alpha) isoform a
PREFERRED_PRODUCT: adducin 1 (alpha) isoform b
PREFERRED_PRODUCT: adducin 1 (alpha) isoform c
PREFERRED_PRODUCT: adducin 1 (alpha) isoform d
SUMMARY: Summary: Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described.
CHR: 4
STS: IB433|4|71609|na|seq_map|epcr
STS: GDB:197234|4|155930|na|seq_map|epcr
COMP: 22758|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A118[id]+AND+gene[obj_type]&QSTR=add1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: erythrocyte adducin alpha subunit
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183706
UNIGENE: Hs.183706
OMIM: 102680
MAP: 4p16.3|HUGO|C|
MAPLINK: default_human_gene|ADD1
PHENOTYPE: Hypertension, essential, salt-sensitive
PHENOTYPE_ID: 145500
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=118
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=118[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:134672
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_176801
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_176801
DB_DESCR: PharmGKB: PA31
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA31
PMID: 14643575,14508192,13679477,12697976,12477932,12427140,12195119,12195118,12172317,12107246,12052841,11926892,11918733,8946164,7774961,1840603,1345173,1284592
GO: molecular function|actin binding|TAS|GO:0003779|GOA|1840603
GO: cellular component|actin cytoskeleton|NR|GO:0015629|GOA|na
GO: molecular function|calmodulin binding|NR|GO:0005516|GOA|1345173
GO: molecular function|calmodulin binding|NAS|GO:0005516|GOA|1345173
GO: cellular component|cytoskeleton|NAS|GO:0005856|GOA|1345173
GO: biological process|cytoskeleton organization and biogenesis|NAS|GO:0007010|GOA|1345173
GO: cellular component|membrane|NR|GO:0016020|GOA|na
GO: molecular function|structural constituent of cytoskeleton|NR|GO:0005200|GOA|na
>>119
LOCUSID: 119
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001617|9257191|na
NP: NP_001608|9257192
CDD: cd00398: Class II Aldolase and Adducin head (N-terminal) domain|16572|537|na|2.109100e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1733|na|6.718310e+02
PRODUCT: adducin 2 isoform a
TRANSVAR: Transcript Variant:  Transcript variant beta-1 contains exons 1-14, 16 and 17 and encodes the longest adducin beta isoform (a) of 726 amino acids. It was this isoform that was originally isolated from erythrocytes and implicated in the regulation of blood pressure in an animal model of hypertension.
ASSEMBLY: AF001597,AH007372,X58199
NM: NM_017482|9257177|na
NP: NP_059516|9257178
CDD: cd00398: Class II Aldolase and Adducin head (N-terminal) domain|16572|532|na|2.089840e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1566|na|6.075030e+02
PRODUCT: adducin 2 isoform b
TRANSVAR: Transcript Variant:  Transcript variant beta-2 lacks the 3'-terminal exons (14-17), and encodes a truncated adducin beta isoform (b) of 560 amino acids as a result of termination at an in-frame stop codon downstream of exon 13. Thus, isoform b does not contain the highly basic carboxy terminus of isoform a, and may have a different functional role.
ASSEMBLY: AF001597,AH007372,X58199
NM: NM_017483|9257179|na
NP: NP_059517|9257180
CDD: pfam00596: Class II Aldolase and Adducin N-terminal domain|7685|153|na|6.297200e+01
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|587|na|2.303930e+02
PRODUCT: adducin 2 isoform c
TRANSVAR: Transcript Variant:  Transcript variant beta-3a contains exons 1-6 followed by an intra-exon splicing that joins the first 6 nt of exon 7 to the last 24 nt of exon 12a, followed by the rest of the 3'-terminal exons as seem in transcript variant beta-1. The large internal deletion results in the loss of 306 amino acids. Therefore, transcript variant beta-3a encodes an isoform (c) of 420 amino acids with a carboxy terminus similar to isoform a.
ASSEMBLY: AF001597,AH007372,X58199
NM: NM_017484|9257181|na
NP: NP_059518|9257182
CDD: pfam00596: Class II Aldolase and Adducin N-terminal domain|7685|151|na|6.220160e+01
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|410|na|1.622120e+02
PRODUCT: adducin 2 isoform d
TRANSVAR: Transcript Variant:  Transcript variant beta-3b contains the same internal deletion as transcript variant beta-3a, however, the 3'-terminal exons are as in transcript variant beta-2. Therefore, transcript variant beta-3b encodes an isoform (d) of 254 amino acids with a carboxy terminus similar to isoform b.
ASSEMBLY: AF001597,AH007372,X58199
NM: NM_017485|9257183|na
NP: NP_059519|9257184
CDD: cd00398: Class II Aldolase and Adducin head (N-terminal) domain|16572|180|na|7.339330e+01
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1057|na|4.114360e+02
PRODUCT: adducin 2 isoform f
TRANSVAR: Transcript Variant:  Transcript variant beta-5a lacks exons 4-8 due to alternative splicing that joins exon 3 to exon 9, followed by the rest of the 3'-terminal exons as in transcript variant beta-1. The large internal deletion results in the loss of 222 amino acids. Therefore, transcript variant beta-5a encodes an isoform (f) of 504 amino acids with a carboxy terminus similar to isoform a.
ASSEMBLY: AF001597,AH007372,X58199
NM: NM_017486|9257185|na
NP: NP_059520|9257186
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|763|na|2.981880e+02
PRODUCT: adducin 2 isoform g
TRANSVAR: Transcript Variant:  Transcript variant beta-6a lacks exons 4-10 due to alternative splicing that joins exon 3 to exon 11, followed by the rest of the 3'-terminal exons as in transcript variant beta-1. The large internal deletion results in the loss of 314 amino acids. Therefore, transcript variant beta-6a encodes an isoform (g) of 412 amino acids with a carboxy terminus similar to isoform a.
ASSEMBLY: AF001597,AH007372,X58199
NM: NM_017487|9257187|na
NP: NP_059521|9257188
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|597|na|2.342450e+02
PRODUCT: adducin 2 isoform h
TRANSVAR: Transcript Variant:  Transcript variant beta-6b contains the same internal deletion as transcript variant beta-6a, however, the 3'-terminal exons are as in transcript variant beta-2. Therefore, transcript variant beta-6b encodes an isoform (h) of 246 amino acids with a carboxy terminus similar to isoform b.
ASSEMBLY: AF001597,AH007372,X58199
NM: NM_017488|9257189|na
NP: NP_059522|9257190
CDD: cd00398: Class II Aldolase and Adducin head (N-terminal) domain|16572|536|na|2.105240e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1682|na|6.521860e+02
PRODUCT: adducin 2 isoform e
TRANSVAR: Transcript Variant:  Transcript variant beta-4 contains all 17 exons including exon 15, which results in a frame-shift and use of an alternate stop codon. Therefore, this transcript variant encodes an isoform (e) of 643 amino acids with the first 580 amino acids identical to that of isoform a, but with a different carboxy-terminal 63 amino acids. Isoform e thus lacks the highly basic carboxy terminus of isoform a, and may have a different functional role.
ASSEMBLY: AF001597,AH007372,U43959,X58199
CONTIG: NT_022184.13|37547123|na|49705201|49811265|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_001617|9257191|na
XP: NP_001608|9257192|na
EVID: supported by alignment with mRNA
XM: NM_017482|9257177|na
XP: NP_059516|9257178|na
EVID: supported by alignment with mRNA
XM: NM_017483|9257179|na
XP: NP_059517|9257180|na
EVID: supported by alignment with mRNA
XM: NM_017484|9257181|na
XP: NP_059518|9257182|na
EVID: supported by alignment with mRNA
XM: NM_017485|9257183|na
XP: NP_059519|9257184|na
EVID: supported by alignment with mRNA
XM: NM_017486|9257185|na
XP: NP_059520|9257186|na
EVID: supported by alignment with mRNA
XM: NM_017487|9257187|na
XP: NP_059521|9257188|na
EVID: supported by alignment with mRNA
XM: NM_017488|9257189|na
XP: NP_059522|9257190|na
ACCNUM: AC005234|4156141|na|na|na
TYPE: g
PROT: AAD12715|4218031|1
PROT: AAD12716|4218032|1
ACCNUM: AF001597|2316041|na|na|na
TYPE: g
ACCNUM: S81079|1336829|na|na|na
TYPE: g
PROT: AAD14349|4262049|1
ACCNUM: S81083|1336830|na|na|na
TYPE: g
ACCNUM: AF486420|31879636|na|na|na
TYPE: m
PROT: AAP71863|31879637|1
ACCNUM: BC008709|14250517|na|na|na
TYPE: m
PROT: AAH08709|14250518|1
ACCNUM: BC010237|16307389|na|na|na
TYPE: m
ACCNUM: BC011416|15030285|na|na|na
TYPE: m
ACCNUM: BC027876|20379872|na|na|na
TYPE: m
ACCNUM: BC041666|27371194|na|na|na
TYPE: m
ACCNUM: BC051882|38453593|na|na|na
TYPE: m
PROT: AAH51882|38453594|1
ACCNUM: BC056881|34785150|na|na|na
TYPE: m
PROT: AAH56881|34785151|1
ACCNUM: BC065525|41351355|na|na|na
TYPE: m
PROT: AAH65525|41351356|1
ACCNUM: U43959|1172145|na|na|na
TYPE: m
PROT: AAA86421|1172146|1
ACCNUM: X58199|29368|na|na|na
TYPE: m
PROT: CAA41176|29369|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35612|543774|0
OFFICIAL_SYMBOL: ADD2
OFFICIAL_GENE_NAME: adducin 2 (beta)
ALIAS_SYMBOL: ADDB
PREFERRED_PRODUCT: adducin 2 isoform a
PREFERRED_PRODUCT: adducin 2 isoform b
PREFERRED_PRODUCT: adducin 2 isoform c
PREFERRED_PRODUCT: adducin 2 isoform d
PREFERRED_PRODUCT: adducin 2 isoform e
PREFERRED_PRODUCT: adducin 2 isoform f
PREFERRED_PRODUCT: adducin 2 isoform g
PREFERRED_PRODUCT: adducin 2 isoform h
SUMMARY: Summary:  Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma.  The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues.  While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues.  Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta.  Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension.  Heterodimers consisting of alpha and gamma subunits have also been described.  Structurally, each subunit is comprised of two distinct domains.  The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive.  The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin.  Various adducin beta mRNAs, alternatively spliced at 3'end and/or internally spliced and encoding different isoforms, have been described.  The functions of all the different isoforms are not known.
CHR: 2
STS: IB387|2|28931|na|seq_map|epcr
STS: RH12820|2|51958|na|seq_map|epcr
STS: A004B15|2|67197|na|seq_map|epcr
COMP: 1221|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A119[id]+AND+gene[obj_type]&QSTR=add2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: beta adducin
ALIAS_PROT: Adducin-2 (beta)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113614
UNIGENE: Hs.113614
OMIM: 102681
MAP: 2p14-p13|RefSeq|C|
MAPLINK: default_human_gene|ADD2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=119
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=119[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:135160
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_017488
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_017488
PMID: 14553963,12477932,9244430,8566798,8563174,7490111,1840603
GO: molecular function|actin binding|TAS|GO:0003779|GOA|1840603
GO: cellular component|actin cytoskeleton|NR|GO:0015629|GOA|na
GO: molecular function|calmodulin binding|IEA|GO:0005516|GOA|na
GO: cellular component|membrane|NR|GO:0016020|GOA|na
>>120
LOCUSID: 120
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_016824|45580743|na
NP: NP_058432|9943848
CDD: pfam00596: Class II Aldolase and Adducin N-terminal domain|25566|456|na|1.796860e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1551|na|6.017250e+02
PRODUCT: adducin 3 isoform a
TRANSVAR: Transcript Variant: This variant (1) includes an in-frame alternate coding exon and encodes a longer protein isoform compared to transcript variant 2.
ASSEMBLY: BC062559,BX647403
NM: NM_019903|45593148|na
NP: NP_063968|9951927
CDD: pfam00596: Class II Aldolase and Adducin N-terminal domain|25566|456|na|1.796860e+02
CDD: KOG3699: Cytoskeletal protein Adducin [Signal transduction mechanisms, Cytoskeleton]|21478|1515|na|5.878580e+02
PRODUCT: adducin 3 isoform b
TRANSVAR: Transcript Variant: This variant (2) lacks an in-frame alternate coding exon and exon 13 and encodes a shorter protein compared to transcript variant 1.
ASSEMBLY: BC062559,BI544596,BX647403,BX648016,D67031
CONTIG: NT_030059.11|37550928|na|30608907|30642614|+|10|reference
EVID: supported by alignment with mRNA
XM: NM_016824|45580743|na
XP: NP_058432|9943848|na
EVID: supported by alignment with mRNA
XM: NM_019903|45593148|na
XP: NP_063968|9951927|na
ACCNUM: Y14372|5685853|na|na|na
TYPE: g
PROT: CAB51805|5685854|1
PROT: CAB51806|5685855|1
ACCNUM: BC021694|18203833|na|na|na
TYPE: m
ACCNUM: BC057285|34785367|na|na|na
TYPE: m
ACCNUM: BC062559|38512197|na|na|na
TYPE: m
PROT: AAH62559|38512198|1
ACCNUM: BI544596|15431908|na|na|na
TYPE: m
ACCNUM: BX647403|34366560|na|na|na
TYPE: m
ACCNUM: BX648016|34367175|na|na|na
TYPE: m
ACCNUM: D67031|2696053|na|na|na
TYPE: m
PROT: BAA23783|2696054|1
ACCNUM: U37122|1621032|na|na|na
TYPE: m
PROT: AAB17126|1621033|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q9UEY8|12643881|0
OFFICIAL_SYMBOL: ADD3
OFFICIAL_GENE_NAME: adducin 3 (gamma)
ALIAS_SYMBOL: ADDL
PREFERRED_PRODUCT: adducin 3 isoform a
PREFERRED_PRODUCT: adducin 3 isoform b
SUMMARY: Summary:  Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma.  The three subunits are encoded by  distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues.  While adducins alpha and gamma are ubiquitously  expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues.  Adducin, originally purified from human erythrocytes,  was found to be a heterodimer of adducins alpha and beta.  Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension.  Heterodimers consisting of alpha and gamma subunits have also been described.  Structurally, each subunit is comprised of two distinct domains.  The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive.  The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin.  Alternatively spliced adducin gamma transcripts encoding different isoforms have been described.  The functions of the different isoforms are not known.
CHR: 10
STS: D10S543|-|307|D10S543|na|epcr
STS: D10S543|-|1345|D10S543|na|epcr
STS: A007G14|10|17145|na|seq_map|epcr
STS: RH78354|10|24096|na|seq_map|epcr
STS: STS-N93746|10|39963|na|seq_map|epcr
STS: RH47300|10|66582|na|seq_map|epcr
STS: STS-AA018233|10|80823|na|seq_map|epcr
STS: RH79633|10|90745|na|seq_map|epcr
STS: RH104052|-|98377|na|na|epcr
STS: RH121628|-|134310|na|na|epcr
STS: SHGC-108129|-|170564|na|na|epcr
COMP: 8395|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A120[id]+AND+gene[obj_type]&QSTR=add3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adducin-like
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324470
UNIGENE: Hs.324470
OMIM: 601568
MAP: 10q24.2-q24.3|RefSeq|C|
MAPLINK: default_human_gene|ADD3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=120
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=120[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6045066
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016824
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016824
PMID: 12477932,10581174,8893809
GO: molecular function|calmodulin binding|IEA|GO:0005516|GOA|na
GO: cellular component|cytoskeleton|IEA|GO:0005856|GOA|na
GO: cellular component|membrane|TAS|GO:0016020|GOA|8893809
GO: molecular function|structural constituent of cytoskeleton|TAS|GO:0005200|GOA|8893809
>>121
LOCUSID: 121
CURRENT_LOCUSID: 120
ORGANISM: Homo sapiens
>>122
LOCUSID: 122
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ADFN
OFFICIAL_GENE_NAME: albinism-deafness syndrome
ALIAS_SYMBOL: ALDS
CHR: X
OMIM: 300700
MAP: Xq25-q26|RefSeq|C|Xq26.3-q27.1|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300700">OMIM</a>|C|
MAPLINK: default_human_cyto|ADFN
PHENOTYPE: Albinism-deafness syndrome
PHENOTYPE_ID: 300700
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118977
>>123
LOCUSID: 123
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001122|34577058|na
NP: NP_001113|34577059
CDD: pfam03036: Perilipin family|17265|1059|na|4.121560e+02
PRODUCT: adipose differentiation-related protein
ASSEMBLY: BC005127,BE311586
CONTIG: NT_008413.16|37540361|na|19105759|19117573|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_001122|34577058|na
XP: NP_001113|34577059|na
ACCNUM: AF443203|17105238|na|na|na
TYPE: m
PROT: AAL35614|17105239|1
ACCNUM: BC005127|33873146|na|na|na
TYPE: m
PROT: AAH05127|13477307|1
ACCNUM: BE311586|9147883|na|na|na
TYPE: m
ACCNUM: X97324|1806039|na|na|na
TYPE: m
PROT: CAA65989|1806040|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q99541|21264409|0
OFFICIAL_SYMBOL: ADFP
OFFICIAL_GENE_NAME: adipose differentiation-related protein
ALIAS_SYMBOL: ADRP
ALIAS_SYMBOL: MGC10598
PREFERRED_PRODUCT: adipose differentiation-related protein
SUMMARY: Summary: Adipocyte differentiation-related protein is associated with the globule surface membrane material. This protein is a major constituent of the globule surface. Increase in mRNA levels is one of the earliest indications of adipocyte differentiation
CHR: 9
STS: STS-W55904|9|48523|na|seq_map|epcr
STS: SHGC-148125|-|176213|na|na|epcr
COMP: 872|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A123[id]+AND+gene[obj_type]&QSTR=adfp&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adipophilin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3416
UNIGENE: Hs.3416
OMIM: 103195
MAP: 9p22.1-p21.3|RefSeq|C|
MAPLINK: default_human_gene|ADFP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=123
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=123[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:130960
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001122
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001122
PMID: 14671211,12591929,12477932,12387890,9799447,9003395
GO: cellular component|endoplasmic reticulum|TAS|GO:0005783|GOA|9003395
GO: cellular component|extracellular|TAS|GO:0005576|GOA|9003395
GO: cellular component|lipid particle|TAS|GO:0005811|GOA|9003395
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
>>124
LOCUSID: 124
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000667|11496886|na
NP: NP_000658|4501929
CDD: KOG0022: Alcohol dehydrogenase, class III [Secondary metabolites biosynthesis, transport and catabolism]|17820|1544|na|5.987610e+02
PRODUCT: class I alcohol dehydrogenase, alpha subunit
ASSEMBLY: M12271,M12963
CONTIG: NT_016354.16|37539910|na|24692228|24706846|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_000667|11496886|na
XP: NP_000658|4501929|na
ACCNUM: M32656|178093|na|na|na
TYPE: g
PROT: AAA52276|178094|1
ACCNUM: M37066|178095|na|na|na
TYPE: g
PROT: AAA51591|178096|1
ACCNUM: BC074738|50960620|na|na|na
TYPE: m
PROT: AAH74738|50960621|1
ACCNUM: M12271|178091|na|na|na
TYPE: m
PROT: AAA68131|178092|1
ACCNUM: M12963|178089|na|na|na
TYPE: m
PROT: AAA51590|178090|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P07327|113390|0
OFFICIAL_SYMBOL: ADH1A
OFFICIAL_GENE_NAME: alcohol dehydrogenase 1A (class I), alpha polypeptide
ALIAS_SYMBOL: ADH1
PREFERRED_PRODUCT: class I alcohol dehydrogenase, alpha subunit
SUMMARY: Summary: This gene encodes class I alcohol dehydrogenase, alpha subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. This gene is monomorphic and predominant in fetal and infant livers, whereas the genes encoding beta and gamma subunits are polymorphic and strongly expressed in adult livers.
CHR: 4
ALIAS_PROT: ADH, alpha subunit
ALIAS_PROT: aldehyde reductase
ALIAS_PROT: alcohol dehydrogenase 1 (class I), alpha polypeptide
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422855
UNIGENE: Hs.422855
OMIM: 103700
ECNUM: 1.1.1.1
MAP: 4q21-q23|HUGO|C|
MAPLINK: default_human_gene|ADH1A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=124
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119650
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000667
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000667
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+124
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+124
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+124
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+124
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+124
PMID: 12477932,12081471,10424757,3013304,2935875,2920825,2737681,2347582,2169444,9982
GO: molecular function|alcohol dehydrogenase activity, zinc-dependent|NAS|GO:0004024|GOA|2935875
GO: biological process|alcohol metabolism|NAS|GO:0006066|GOA|2347582
GO: cellular component|cytoplasm|NAS|GO:0005737|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>125
LOCUSID: 125
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000668|34577060|na
NP: NP_000659|34577061
CDD: KOG0022: Alcohol dehydrogenase, class III [Secondary metabolites biosynthesis, transport and catabolism]|17820|1559|na|6.045390e+02
PRODUCT: alcohol dehydrogenase 1B (class I), beta polypeptide
ASSEMBLY: AH005294,D00137,M21692
CONTIG: NT_016354.16|37539910|na|24722233|24737262|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_000668|34577060|na
XP: NP_000659|34577061|na
ACCNUM: AF040967|2773335|na|na|na
TYPE: g
PROT: AAB96912|2773336|1
ACCNUM: L38290|598141|na|na|na
TYPE: g
PROT: AAB48003|598143|1
ACCNUM: M24308|178101|na|na|na
TYPE: g
PROT: AAB59496|178111|1
ACCNUM: M24316|178109|na|na|na
TYPE: g
PROT: AAB59496|178111|1
ACCNUM: M32657|178112|na|na|na
TYPE: g
PROT: AAA52277|178113|1
ACCNUM: X15447|28385|na|na|na
TYPE: g
PROT: CAA33487|1223739|1
ACCNUM: AF153821|5002378|na|na|na
TYPE: m
PROT: AAD37446|5002379|1
ACCNUM: BC033009|34190081|na|na|na
TYPE: m
PROT: AAH33009|21542510|1
ACCNUM: BX647469|34366626|na|na|na
TYPE: m
ACCNUM: D00137|219427|na|na|na
TYPE: m
PROT: BAA00084|219428|1
ACCNUM: M21692|178099|na|na|na
TYPE: m
PROT: AAA51592|178100|1
ACCNUM: M24317|178097|na|na|na
TYPE: m
PROT: AAA51884|178098|1
ACCNUM: X03350|28415|na|na|na
TYPE: m
PROT: CAA27056|28416|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P00325|113394|0
OFFICIAL_SYMBOL: ADH1B
OFFICIAL_GENE_NAME: alcohol dehydrogenase IB (class I), beta polypeptide
ALIAS_SYMBOL: ADH2
PREFERRED_PRODUCT: alcohol dehydrogenase 1B (class I), beta polypeptide
SUMMARY: Summary: The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster.
CHR: 4
STS: SHGC-50678|4|31225|na|seq_map|epcr
STS: D4S2817|4|34159|D4S2817|seq_map|epcr
STS: STS-X15447|-|71006|na|na|epcr
STS: G60286|4|137391|na|seq_map|epcr
STS: GDB:187387|-|155548|na|na|epcr
ALIAS_PROT: ADH, beta subunit
ALIAS_PROT: aldehyde reductase
ALIAS_PROT: alcohol dehydrogenase 2
ALIAS_PROT: alcohol dehydrogenase 2 (class I), beta polypeptide
ALIAS_PROT: alcohol dehydrogenase 1B (class I), beta polypeptide
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=4
UNIGENE: Hs.4
OMIM: 103720
ECNUM: 1.1.1.1
MAP: 4q21-q23|HUGO|C|
MAPLINK: default_human_gene|ADH1B
PHENOTYPE: Alcoholism, susceptibility to
PHENOTYPE_ID: 103720
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=125
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=125[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119651
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000668
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000668
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+125
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+125
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+125
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+125
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+125
DB_DESCR: PharmGKB: PA24571
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24571
PMID: 15084894,12777946,12658118,12554615,12477932,12452180,12351924,12189549,12081471,10424757,3619918,3397059,3006456,3000832,2986130,2935533,2737681,2679216,2547609,2398055,2347582,2295648,2210383,2169444,9982
GO: molecular function|alcohol dehydrogenase activity, zinc-dependent|TAS|GO:0004024|GOA|9982
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|2398055
GO: biological process|ethanol oxidation|TAS|GO:0006069|GOA|2398055
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: molecular function|zinc ion binding|TAS|GO:0008270|GOA|9982
>>126
LOCUSID: 126
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000669|11496888|na
NP: NP_000660|4501933
CDD: KOG0022: Alcohol dehydrogenase, class III [Secondary metabolites biosynthesis, transport and catabolism]|17820|1459|na|5.660190e+02
PRODUCT: class I alcohol dehydrogenase, gamma subunit
ASSEMBLY: M12272
CONTIG: NT_016354.16|37539910|na|24752353|24768607|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_000669|11496888|na
XP: NP_000660|4501933|na
ACCNUM: M32658|178116|na|na|na
TYPE: g
PROT: AAA52278|178117|1
ACCNUM: BC062476|38383195|na|na|na
TYPE: m
PROT: AAH62476|38383196|1
ACCNUM: BC066227|42542788|na|na|na
TYPE: m
PROT: AAH66227|42542789|1
ACCNUM: BC066228|42542790|na|na|na
TYPE: m
PROT: AAH66228|42542791|1
ACCNUM: BC067419|45768467|na|na|na
TYPE: m
PROT: AAH67419|45768468|1
ACCNUM: BC067420|45767636|na|na|na
TYPE: m
PROT: AAH67420|45767637|1
ACCNUM: BC067421|45768575|na|na|na
TYPE: m
PROT: AAH67421|45768576|1
ACCNUM: BC067422|45768579|na|na|na
TYPE: m
PROT: AAH67422|45768580|1
ACCNUM: BC074771|50960742|na|na|na
TYPE: m
PROT: AAH74771|50960743|1
ACCNUM: BC074786|50960056|na|na|na
TYPE: m
PROT: AAH74786|50960057|1
ACCNUM: M12272|178147|na|na|na
TYPE: m
PROT: AAC41757|178148|1
ACCNUM: X04299|28403|na|na|na
TYPE: m
PROT: CAA27842|28404|1
ACCNUM: X04350|28401|na|na|na
TYPE: m
PROT: CAA27876|825622|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P00326|113398|0
OFFICIAL_SYMBOL: ADH1C
OFFICIAL_GENE_NAME: alcohol dehydrogenase 1C (class I), gamma polypeptide
ALIAS_SYMBOL: ADH3
PREFERRED_PRODUCT: class I alcohol dehydrogenase, gamma subunit
SUMMARY: Summary: This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster.
CHR: 4
STS: SHGC-35417|4|72095|na|seq_map|epcr
STS: G44346|-|95133|na|na|epcr
STS: GDB:187387|-|155548|na|na|epcr
ALIAS_PROT: ADH, gamma subunit
ALIAS_PROT: aldehyde reductase
ALIAS_PROT: alcohol dehydrogenase 3
ALIAS_PROT: alcohol dehydrogenase 3 (class I), gamma polypeptide
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2523
UNIGENE: Hs.2523
OMIM: 103730
ECNUM: 1.1.1.1
MAP: 4q21-q23|HUGO|C|
MAPLINK: default_human_gene|ADH1C
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=126
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=126[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119652
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000669
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000669
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+126
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+126
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+126
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+126
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+126
DB_DESCR: PharmGKB: PA24572
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24572
PMID: 12782305,12713190,12658118,12631283,12554615,12500098,12477932,10424757,7771649,6391921,3758060,3397059,2935875,2737681,2347582,2169444,9982
GO: molecular function|alcohol dehydrogenase activity, zinc-dependent|NAS|GO:0004024|GOA|2935875,6391921
GO: biological process|alcohol metabolism|NAS|GO:0006066|GOA|na
GO: cellular component|cytoplasm|NAS|GO:0005737|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>127
LOCUSID: 127
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000670|11496889|na
NP: NP_000661|4501935
CDD: KOG0022: Alcohol dehydrogenase, class III [Secondary metabolites biosynthesis, transport and catabolism]|17820|1492|na|5.787300e+02
PRODUCT: class II alcohol dehydrogenase 4 pi subunit
ASSEMBLY: M15943,X56411,X56419
CONTIG: NT_016354.16|37539910|na|24539339|24560560|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_000670|11496889|na
XP: NP_000661|4501935|na
ACCNUM: X56411|28405|na|na|na
TYPE: g
PROT: CAA39813|825623|1
ACCNUM: X56419|28414|na|na|na
TYPE: g
ACCNUM: BC022319|18490172|na|na|na
TYPE: m
PROT: AAH22319|18490173|1
ACCNUM: M15943|178120|na|na|na
TYPE: m
PROT: AAA51595|178121|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P08319|113399|0
OFFICIAL_SYMBOL: ADH4
OFFICIAL_GENE_NAME: alcohol dehydrogenase 4 (class II), pi polypeptide
ALIAS_SYMBOL: ADH-2
PREFERRED_PRODUCT: class II alcohol dehydrogenase 4 pi subunit
SUMMARY: Summary: This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes.
CHR: 4
STS: STS-X56411|4|10563|na|seq_map|epcr
STS: SHGC-35298|4|46463|na|seq_map|epcr
COMP: 20162|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A127[id]+AND+gene[obj_type]&QSTR=adh4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aldehyde reductase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1219
UNIGENE: Hs.1219
OMIM: 103740
ECNUM: 1.1.1.1
MAP: 4q21-q24|HUGO|C|4q22|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103740">OMIM</a>|C|
MAPLINK: default_human_gene|ADH4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=127
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=127[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119653
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000670
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000670
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+127
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+127
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+127
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+127
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+127
PMID: 14745297,12631290,12477932,11997393,11964133,11916005,8032153,3466164,3036213,1889753,1362387
GO: molecular function|alcohol dehydrogenase activity, zinc-dependent|IEA|GO:0004024|GOA|na
GO: biological process|alcohol metabolism|TAS|GO:0006066|GOA|3466164
GO: biological process|aldehyde metabolism|TAS|GO:0006081|GOA|3466164
GO: molecular function|electron-transferring-flavoprotein dehydrogenase activity|TAS|GO:0004174|GOA|3466164
GO: biological process|ethanol oxidation|NR|GO:0006069|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>128
LOCUSID: 128
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000671|11496890|na
NP: NP_000662|11496891
CDD: KOG0022: Alcohol dehydrogenase, class III [Secondary metabolites biosynthesis, transport and catabolism]|17820|1532|na|5.941380e+02
PRODUCT: class III alcohol dehydrogenase 5 chi subunit
ASSEMBLY: AH002555,M29872
CONTIG: NT_016354.16|37539910|na|24487067|24504717|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_000671|11496890|na
XP: NP_000662|11496891|na
ACCNUM: M81112|178122|na|na|na
TYPE: g
PROT: AAA51596|178130|1
ACCNUM: M81118|178128|na|na|na
TYPE: g
PROT: AAA51596|178130|1
ACCNUM: BC014665|15779215|na|na|na
TYPE: m
PROT: AAH14665|15779216|1
ACCNUM: BC070491|47682986|na|na|na
TYPE: m
PROT: AAH70491|47682987|1
ACCNUM: M29872|178131|na|na|na
TYPE: m
PROT: AAA51597|178132|1
ACCNUM: M30471|178133|na|na|na
TYPE: m
PROT: AAA79018|178134|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P11766|113408|0
OFFICIAL_SYMBOL: ADH5
OFFICIAL_GENE_NAME: alcohol dehydrogenase 5 (class III), chi polypeptide
ALIAS_SYMBOL: FDH
ALIAS_SYMBOL: ADHX
ALIAS_SYMBOL: ADH-3
PREFERRED_PRODUCT: class III alcohol dehydrogenase 5 chi subunit
SUMMARY: Summary: This gene encodes glutathione-dependent formaldehyde dehydrogenase or class III alcohol dehydrogenase chi subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class III alcohol dehydrogenase is a homodimer composed of 2 chi subunits. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis.
CHR: 4
STS: WI-18933|4|23219|na|seq_map|epcr
STS: WI-14387|4|68660|na|seq_map|epcr
ALIAS_PROT: formaldehyde dehydrogenase
ALIAS_PROT: glutathione-dependent formaldehyde dehydrogenase
ALIAS_PROT: Alcohol dehydrogenase (class III), chi polypeptide
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78989
UNIGENE: Hs.78989
OMIM: 103710
ECNUM: 1.1.1.1
ECNUM: 1.2.1.1
MAP: 4q21-q25|HUGO|C|
MAPLINK: default_human_gene|ADH5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=128
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=128[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119128
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118978
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000671
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000671
DB_DESCR: KEGG pathway: Methane metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00680+128
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+128
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+128
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+128
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+128
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+128
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+128
PMID: 12484756,12477932,12196016,12004059,10978156,9018047,8460164,3365377,2934732,2818582,2679557,1446828
GO: molecular function|alcohol dehydrogenase activity, zinc-dependent|IEA|GO:0004024|GOA|na
GO: biological process|alcohol metabolism|NR|GO:0006066|GOA|na
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|8460164
GO: biological process|ethanol oxidation|TAS|GO:0006069|GOA|8460164
GO: molecular function|fatty acid binding|TAS|GO:0005504|GOA|8460164
GO: molecular function|formaldehyde dehydrogenase (glutathione) activity|TAS|GO:0004327|GOA|8460164
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>129
LOCUSID: 129
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ADH5P1
OFFICIAL_GENE_NAME: alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1
ALIAS_SYMBOL: ADH-3P1
CHR: 4
MAP: 4q21-q23|HUGO|C|
MAPLINK: default_human_cyto|ADH5P1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125362
PMID: 1446828
>>130
LOCUSID: 130
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000672|11024646|na
NP: NP_000663|4501939
CDD: KOG0022: Alcohol dehydrogenase, class III [Secondary metabolites biosynthesis, transport and catabolism]|17820|1353|na|5.251870e+02
PRODUCT: class V alcohol dehydrogenase 6
ASSEMBLY: AH001409
CONTIG: NT_016354.16|37539910|na|24620583|24635105|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_000672|11024646|na
XP: NP_000663|4501939|na
ACCNUM: M84402|178137|na|na|na
TYPE: g
PROT: AAA35509|178146|1
ACCNUM: M84409|178144|na|na|na
TYPE: g
PROT: AAA35509|178146|1
ACCNUM: AJ278908|10443193|na|na|na
TYPE: m
PROT: CAC10399|10443194|1
ACCNUM: AK092768|21751446|na|na|na
TYPE: m
ACCNUM: BC039065|24659518|na|na|na
TYPE: m
PROT: AAH39065|24659519|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P28332|113389|0
OFFICIAL_SYMBOL: ADH6
OFFICIAL_GENE_NAME: alcohol dehydrogenase 6 (class V)
ALIAS_SYMBOL: ADH-5
PREFERRED_PRODUCT: class V alcohol dehydrogenase 6
SUMMARY: Summary: This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. The deduced amino acid sequence of the open reading frame of this gene shows about 60% positional identity with other known alcohol dehydrogenases. This gene may have a distinct physiologic function.
CHR: 4
STS: G33392|4|11897|na|seq_map|epcr
STS: SHGC-12728|4|81380|na|seq_map|epcr
COMP: 36033|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/human-chr4&query=e%3A130[id]+AND+gene[obj_type]&QSTR=adh6&cmd=focus&fill=10|Rat
ALIAS_PROT: aldehyde reductase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=429896
UNIGENE: Hs.429896
OMIM: 103735
ECNUM: 1.1.1.1
MAP: 4q23|RefSeq|C|
MAPLINK: default_human_gene|ADH6
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=130
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=130[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:129087
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000672
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000672
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+130
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+130
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+130
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+130
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+130
PMID: 14702039,12477932,11095947,10975466,7695785,1881901,1755855
GO: molecular function|alcohol dehydrogenase activity, zinc-dependent|IEA|GO:0004024|GOA|na
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|1755855
GO: biological process|ethanol oxidation|TAS|GO:0006069|GOA|1755855
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>131
LOCUSID: 131
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000673|11496969|na
NP: NP_000664|4501941
CDD: KOG0022: Alcohol dehydrogenase, class III [Secondary metabolites biosynthesis, transport and catabolism]|17820|1427|na|5.536920e+02
PRODUCT: class IV alcohol dehydrogenase 7 mu or sigma subunit
ASSEMBLY: AH006682,U09623
CONTIG: NT_016354.16|37539910|na|24828186|24851194|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_000673|11496969|na
XP: NP_000664|4501941|na
ACCNUM: L47166|975603|na|na|na
TYPE: g
PROT: AAB38424|975604|1
ACCNUM: U16286|642473|na|na|na
TYPE: g
PROT: AAC51351|642482|1
ACCNUM: U16293|642480|na|na|na
TYPE: g
PROT: AAC51351|642482|1
ACCNUM: L33179|516617|na|na|na
TYPE: m
PROT: AAA59211|516618|1
ACCNUM: S77168|999377|na|na|na
TYPE: m
PROT: AAB34478|999378|1
ACCNUM: U07821|499097|na|na|na
TYPE: m
PROT: AAA19002|499098|1
ACCNUM: U09623|790523|na|na|na
TYPE: m
PROT: AAA82165|790524|1
ACCNUM: X76342|541674|na|na|na
TYPE: m
PROT: CAA53960|541675|1
PROT: CAA53961|541676|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P40394|728806|0
OFFICIAL_SYMBOL: ADH7
OFFICIAL_GENE_NAME: alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ALIAS_SYMBOL: ADH-4
PREFERRED_PRODUCT: class IV alcohol dehydrogenase 7 mu or sigma subunit
SUMMARY: Summary: This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members.
CHR: 4
STS: SHGC-12015|4|14705|na|seq_map|epcr
COMP: 20164|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A131[id]+AND+gene[obj_type]&QSTR=adh7&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Alcohol dehydrogenase-7
ALIAS_PROT: gastric alcohol dehydrogenase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389
UNIGENE: Hs.389
OMIM: 600086
ECNUM: 1.1.1.1
MAP: 4q23-q24|RefSeq|C|
MAPLINK: default_human_gene|ADH7
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=131
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=131[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:362911
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000673
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000673
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+131
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+131
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+131
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+131
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+131
PMID: 9228021,8824810,8195208,8082805,8074657,7925371,7876191,7876099,7771649,1592118
GO: molecular function|alcohol dehydrogenase activity, zinc-dependent|TAS|GO:0004024|GOA|7876099
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|7876099
GO: biological process|ethanol oxidation|TAS|GO:0006069|GOA|7876099
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|TAS|GO:0006355|GOA|7876099
GO: molecular function|retinol dehydrogenase activity|TAS|GO:0004745|GOA|7876099
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>132
LOCUSID: 132
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001123|32484972|na
NP: NP_001114|32484973
CDD: KOG2854: Possible pfkB family carbohydrate kinase [Carbohydrate transport and metabolism]|20640|1315|na|5.105800e+02
PRODUCT: adenosine kinase isoform a
TRANSVAR: Transcript Variant: This variant, ADK-short, includes an alternate in-frame exon in the 5' UTR and 5' coding region. It encodes isoform a, which has a shorter and distinct N-terminus, compared to isoform b.
ASSEMBLY: AI608983,BM472149,U50196
NM: NM_006721|32484974|na
NP: NP_006712|32484975
CDD: KOG2854: Possible pfkB family carbohydrate kinase [Carbohydrate transport and metabolism]|20640|1308|na|5.078830e+02
PRODUCT: adenosine kinase isoform b
TRANSVAR: Transcript Variant: This variant, ADK-long, encodes the longer isoform (b) of this protein.
ASSEMBLY: AI608983,CB133126,U50196,U90338
CONTIG: NT_008583.16|37551286|na|24462120|25020215|+|10|reference
EVID: supported by alignment with mRNA
XM: NM_001123|32484972|na
XP: NP_001114|32484973|na
EVID: supported by alignment with mRNA
XM: NM_006721|32484974|na
XP: NP_006712|32484975|na
ACCNUM: AI608983|4618150|na|na|na
TYPE: m
ACCNUM: BC003568|13097731|na|na|na
TYPE: m
PROT: AAH03568|13097732|1
ACCNUM: BM472149|18521191|na|na|na
TYPE: m
ACCNUM: BT006788|30582414|na|na|na
TYPE: m
PROT: AAP35434|30582415|1
ACCNUM: CB133126|28098664|na|na|na
TYPE: m
ACCNUM: U33936|1353385|na|na|na
TYPE: m
PROT: AAB01689|1353386|1
ACCNUM: U50196|1224124|na|na|na
TYPE: m
PROT: AAA97893|1224125|1
ACCNUM: U90338|1906008|na|na|na
TYPE: m
PROT: AAB50234|1906009|1
ACCNUM: U90339|1906010|na|na|na
TYPE: m
PROT: AAB50235|1906011|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P55263|6840802|0
OFFICIAL_SYMBOL: ADK
OFFICIAL_GENE_NAME: adenosine kinase
ALIAS_SYMBOL: AK
PREFERRED_PRODUCT: adenosine kinase isoform a
PREFERRED_PRODUCT: adenosine kinase isoform b
SUMMARY: Summary: This gene encodes adenosine kinase, an abundant enzyme in mammalian tissues. The enzyme catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Alternative splicing results in two transcript variants encoding different isoforms. Both isoforms of the enzyme phosphorylate adenosine with identical kinetics and both require Mg2+ for activity.
CHR: 10
STS: STS-U50196|10|3883|na|seq_map|epcr
STS: RH70656|10|11640|na|seq_map|epcr
STS: WI-11741|10|20470|na|seq_map|epcr
COMP: 4891|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A132[id]+AND+gene[obj_type]&QSTR=adk&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenosine 5'-phosphotransferase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=355533
UNIGENE: Hs.355533
OMIM: 102750
ECNUM: 2.7.1.20
MAP: 10q22|RefSeq|C|10q11-q24|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102750">OMIM</a>|C|
MAPLINK: default_human_gene|ADK
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=132
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=132[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118979
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001123
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001123
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+132
PMID: 12820662,12477932,11242543,9843365,9070863,8917457,8577746
GO: molecular function|adenosine kinase activity|TAS|GO:0004001|GOA|9070863
GO: molecular function|kinase activity|IEA|GO:0016301|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|purine ribonucleoside salvage|IEA|GO:0006166|GOA|na
GO: biological process|ribonucleoside monophosphate biosynthesis|TAS|GO:0009156|GOA|9070863
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>133
LOCUSID: 133
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001124|4501944|na
NP: NP_001115|4501945
CDD: pfam02039: Adrenomedullin|2563|646|na|2.532140e+02
PRODUCT: adrenomedullin
ASSEMBLY: D14874
CONTIG: NT_009237.16|37541814|na|9090582|9092863|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001124|4501944|na
XP: NP_001115|4501945|na
ACCNUM: D43639|599558|na|na|na
TYPE: g
PROT: BAA07756|599559|1
ACCNUM: S73906|765329|na|na|na
TYPE: g
PROT: AAC60642|765330|1
ACCNUM: BC015961|33870631|na|na|na
TYPE: m
PROT: AAH15961|16358995|1
ACCNUM: D14874|455470|na|na|na
TYPE: m
PROT: BAA03589|500612|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35318|461474|0
OFFICIAL_SYMBOL: ADM
OFFICIAL_GENE_NAME: adrenomedullin
ALIAS_SYMBOL: AM
PREFERRED_PRODUCT: adrenomedullin
SUMMARY: Summary: Adrenomedullin, a hypotensive peptide found in human pheochromocytoma, consists of 52 amino acids, has 1 intramolecular disulfide bond, and shows a slight homology with the calcitonin gene-related peptide. It may function as a hormone in circulation control because it is found in blood in a considerable concentration. The precursor, called preproadrenomedullin, is 185 amino acids long. By RNA-blot analysis, human adrenomedullin mRNA was found to be highly expressed in several tissues. Genomic ADM DNA consists of 4 exons and 3 introns, with the 5-prime flanking region containing TATA, CAAT, and GC boxes. There are also multiple binding sites for activator protein-2 and a cAMP-regulated enhancer element.
CHR: 11
STS: WI-9301|11|11816|na|seq_map|epcr
STS: RH17382|11|49360|na|seq_map|epcr
COMP: 873|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A133[id]+AND+gene[obj_type]&QSTR=adm&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: preproadrenomedullin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=441047
UNIGENE: Hs.441047
OMIM: 103275
MAP: 11p15.4|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103275">OMIM</a>|C|
MAPLINK: default_human_gene|ADM
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=133
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=133[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:217070
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001124
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001124
PMID: 15044509,14720432,14715486,14671210,14612905,14534081,14517225,12969589,12920627,12903912,12853384,12835224,12805025,12782295,12763641,12753312,12720100,12716843,12687457,12684703,12660258,12646214,12643861,12630823,12630817,12601625,12579522,12566732,12565880,12529288,12484513,12477932,12383875,12376296,12375542,12324915,12220731,12193565,12189226,12137974,11972292,11956648,11921363,11921362,11905404,11879669,11774814,11744163,11712085,10867102,10822232,8774254,8524787,8074714,7688224
GO: biological process|cAMP biosynthesis|TAS|GO:0006171|GOA|8074714
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|8074714
GO: biological process|circulation|TAS|GO:0008015|GOA|8074714
GO: biological process|excretion|NR|GO:0007588|GOA|na
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|10822232
GO: molecular function|hormone activity|IEA|GO:0005179|GOA|na
GO: biological process|pregnancy|TAS|GO:0007565|GOA|10822232
GO: biological process|progesterone biosynthesis|TAS|GO:0006701|GOA|10822232
GO: biological process|response to wounding|TAS|GO:0009611|GOA|8524787
GO: biological process|signal transduction|TAS|GO:0007165|GOA|10822232
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|10822232
>>134
LOCUSID: 134
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000674|4501946|na
NP: NP_000665|4501947
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|245|na|9.847790e+01
CDD: KOG4220: Muscarinic acetylcholine receptor [Signal transduction mechanisms]|21996|107|na|4.533590e+01
PRODUCT: adenosine A1 receptor
ASSEMBLY: L22214
CONTIG: NT_004671.15|29793399|na|14414766|14491516|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_000674|4501946|na
XP: NP_000665|4501947|na
ACCNUM: AB004662|2196442|na|na|na
TYPE: m
PROT: BAA20433|2196443|1
ACCNUM: AK095060|21754250|na|na|na
TYPE: m
ACCNUM: AK127752|34534798|na|na|na
TYPE: m
ACCNUM: AY136746|22658474|na|na|na
TYPE: m
PROT: AAN01272|22658475|1
ACCNUM: BC026340|20070960|na|na|na
TYPE: m
PROT: AAH26340|20070961|1
ACCNUM: L22214|347520|na|na|na
TYPE: m
PROT: AAA17544|347521|1
ACCNUM: S45235|256154|na|na|na
TYPE: m
PROT: AAB23388|256155|1
ACCNUM: S56143|298327|na|na|na
TYPE: m
PROT: AAB25533|7690393|2
ACCNUM: X68485|400449|na|na|na
TYPE: m
PROT: CAA48503|400450|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P30542|231473|0
OFFICIAL_SYMBOL: ADORA1
OFFICIAL_GENE_NAME: adenosine A1 receptor
ALIAS_SYMBOL: RDC7
PREFERRED_PRODUCT: adenosine A1 receptor
SUMMARY: Summary: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. The human ADORA1 gene consists of 6 exons of which the last 2 are part of the coding region. A study of mRNAs from a range of human tissues revealed the existence of alternative splicing within the 5' UTR. Transcripts containing exons 4, 5 and 6 were found in all tissues while a distinct transcript containing exons 3, 5 and 6 was seen only in certain tissues. No transcript contained both exons 3 and 4.
CHR: 1
STS: SHGC-76157|1|59052|na|seq_map|epcr
COMP: 20165|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A134[id]+AND+gene[obj_type]&QSTR=adora1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77867
UNIGENE: Hs.77867
OMIM: 102775
MAP: 1q32.1|HUGO|C|
MAPLINK: default_human_gene|ADORA1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=134
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=134[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:126601
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000674
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000674
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+134
PMID: 14997566,14702039,12812995,12764156,12477932,12475223,11934694,11703426,8450977,8360491,8300646,7818494,2541503,1662665,1551861,1530647,1339301
GO: molecular function|A1 adenosine receptor activity, G-protein coupled|IEA|GO:0001610|GOA|na
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|na
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|7818494
GO: biological process|induction of apoptosis by extracellular signals|TAS|GO:0008624|GOA|7818494
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|8360491
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|1530647
GO: biological process|neurogenesis|TAS|GO:0007399|GOA|8450977
GO: biological process|phagocytosis|TAS|GO:0006909|GOA|8360491
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|1530647
>>135
LOCUSID: 135
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000675|17136146|na
NP: NP_000666|5921992
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|376|na|1.489390e+02
PRODUCT: adenosine A2a receptor
ASSEMBLY: AH003248,M97370
CONTIG: NT_011520.9|29807292|na|4219661|4228894|+|22|reference
EVID: supported by alignment with mRNA
XM: NM_000675|17136146|na
XP: NP_000666|5921992|na
ACCNUM: U20233|1661009|na|na|na
TYPE: g
PROT: AAB18370|1661011|1
ACCNUM: U40771|1117996|na|na|na
TYPE: g
PROT: AAA83270|1117998|1
ACCNUM: AK123058|34528516|na|na|na
TYPE: m
ACCNUM: AY136747|22658476|na|na|na
TYPE: m
PROT: AAN01273|22658477|1
ACCNUM: BC013780|15489369|na|na|na
TYPE: m
PROT: AAH13780|15489370|1
ACCNUM: BT006999|30582836|na|na|na
TYPE: m
PROT: AAP35645|30582837|1
ACCNUM: CR456367|47678264|na|na|na
TYPE: m
PROT: CAG30253|47678265|1
ACCNUM: M97370|177891|na|na|na
TYPE: m
PROT: AAA58356|177892|1
ACCNUM: S46950|258928|na|na|na
TYPE: m
PROT: AAB23956|258929|1
ACCNUM: X68486|400451|na|na|na
TYPE: m
PROT: CAA48504|400452|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P29274|543740|0
OFFICIAL_SYMBOL: ADORA2A
OFFICIAL_GENE_NAME: adenosine A2a receptor
ALIAS_SYMBOL: RDC8
ALIAS_SYMBOL: hA2aR
ALIAS_SYMBOL: ADORA2
PREFERRED_PRODUCT: adenosine A2a receptor
SUMMARY: Summary: This gene encodes a protein which is one of several receptor subtypes for adenosine. The activity of the encoded protein, a G-protein coupled receptor family member, is mediated by G proteins which activate adenylyl cyclase. The encoded protein is abundant in basal ganglia, vasculature and platelets and it is a major target of caffeine.
CHR: 22
STS: WI-18996|22|40515|na|seq_map|epcr
STS: D22S1263|22|52178|D22S1263|seq_map|epcr
COMP: 20166|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A135[id]+AND+gene[obj_type]&QSTR=adora2a&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenosine A2 receptor
ALIAS_PROT: adenosine receptor subtype A2a
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=197029
UNIGENE: Hs.197029
OMIM: 102776
MAP: 22q11.23|RefSeq|C|
MAPLINK: default_human_gene|ADORA2A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=135
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=135[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:126602
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000675
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000675
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+135
PMID: 14715520,14702039,14666117,14525968,12933819,12856413,12837758,12804599,12784121,12634474,12477932,12429726,12406340,12237741,11934694,10945659,10899090,10051547,9262401,8794889,8670304,8522976,8360491,8020991,7818494,2541503,1662665,1331670
GO: molecular function|A2A adenosine receptor activity, G-protein coupled|IEA|GO:0001611|GOA|na
GO: biological process|G-protein coupled receptor protein signaling pathway|NR|GO:0007186|GOA|na
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|na
GO: biological process|G-protein signaling, coupled to cAMP nucleotide second messenger|TAS|GO:0007188|GOA|10899090
GO: biological process|adenylate cyclase activation|NR|GO:0007190|GOA|na
GO: biological process|apoptosis|TAS|GO:0006915|GOA|7818494
GO: biological process|blood coagulation|TAS|GO:0007596|GOA|10899090
GO: biological process|cAMP biosynthesis|TAS|GO:0006171|GOA|10899090
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|7818494
GO: biological process|cellular defense response|TAS|GO:0006968|GOA|10051547
GO: biological process|central nervous system development|TAS|GO:0007417|GOA|10945659
GO: biological process|circulation|TAS|GO:0008015|GOA|9262401
GO: molecular function|gastric inhibitory peptide receptor activity|NAS|GO:0016519|GOA|8522976
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|8360491
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8794889
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|10051547
GO: biological process|neurotransmitter transport|NAS|GO:0006836|GOA|8522976
GO: biological process|phagocytosis|TAS|GO:0006909|GOA|8360491
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
GO: biological process|sensory perception|TAS|GO:0007600|GOA|9262401
>>136
LOCUSID: 136
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000676|22907046|na
NP: NP_000667|4501951
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|410|na|1.620360e+02
CDD: KOG4220: Muscarinic acetylcholine receptor [Signal transduction mechanisms]|21996|131|na|5.458070e+01
PRODUCT: adenosine A2b receptor
ASSEMBLY: M97759,X68487
CONTIG: NT_010718.14|37543500|na|14689237|14720216|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_000676|22907046|na
XP: NP_000667|4501951|na
ACCNUM: AY136748|22658478|na|na|na
TYPE: m
PROT: AAN01274|22658479|1
ACCNUM: BC025722|19343938|na|na|na
TYPE: m
PROT: AAH25722|19343939|1
ACCNUM: M97759|178149|na|na|na
TYPE: m
PROT: AAA51598|178150|1
ACCNUM: X68487|400453|na|na|na
TYPE: m
PROT: CAA48505|757911|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P29275|112938|0
OFFICIAL_SYMBOL: ADORA2B
OFFICIAL_GENE_NAME: adenosine A2b receptor
ALIAS_SYMBOL: ADORA2
PREFERRED_PRODUCT: adenosine A2b receptor
SUMMARY: Summary: This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17.
CHR: 17
STS: STS-X68487|17|7593|na|seq_map|epcr
STS: D17S1679|17|68876|D17S1679|seq_map|epcr
STS: GDB:593101|17|157937|na|seq_map|epcr
COMP: 20167|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A136[id]+AND+gene[obj_type]&QSTR=adora2b&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=45743
UNIGENE: Hs.45743
OMIM: 600446
MAP: 17p12-p11.2|RefSeq|C|
MAPLINK: default_human_gene|ADORA2B
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=136
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=136[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136339
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000676
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000676
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+136
PMID: 12939345,12600879,12477932,12080047,11906291,10101031,8022409,7836474,7790006,7558011,1551861,1325798
GO: molecular function|A2B adenosine receptor activity, G-protein coupled|IEA|GO:0001612|GOA|na
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|7558011
GO: biological process|JNK cascade|TAS|GO:0007254|GOA|10101031
GO: biological process|activation of MAPK|TAS|GO:0000187|GOA|10101031
GO: biological process|adenylate cyclase activation|TAS|GO:0007190|GOA|8022409
GO: biological process|cellular defense response|TAS|GO:0006968|GOA|10101031
GO: biological process|excretion|TAS|GO:0007588|GOA|7836474
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|7558011
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>137
LOCUSID: 137
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000843|20128055|na|1|1979
CONTIG: NT_021877.16|37539616|na|3376361|3378139|+|1|na
EVID: alignment with NG_000843
XG: NG_000843|20128055|na
ACCNUM: AL022398|3355547|na|23303|25081
TYPE: g
OFFICIAL_SYMBOL: ADORA2BP
OFFICIAL_GENE_NAME: adenosine A2b receptor pseudogene
CHR: 1
MAP: 1q32|HUGO|C|
MAPLINK: default_human_gene|ADORA2BP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=137
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:438199
PMID: 7558011
>>138
LOCUSID: 138
LOCUS_CONFIRMED: no
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: WITHDRAWN
OFFICIAL_SYMBOL: ADORA2L1
OFFICIAL_GENE_NAME: adenosine A2 receptor-like 1
ALIAS_SYMBOL: ADORA2L
SUMMARY: DISCONTINUED: LocusID 138, discontinued by HGNC[sd]
CHR: 10
OMIM: 102777
MAP: 10q25.3-q26.3|HUGO|C|
MAPLINK: default_human_cyto|ADORA2L1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128572
PMID: 1662665
>>139
LOCUSID: 139
LOCUS_CONFIRMED: no
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: WITHDRAWN
OFFICIAL_SYMBOL: ADORA2L2
OFFICIAL_GENE_NAME: adenosine A2 receptor-like 2
SUMMARY: DISCONTINUED: LocusID 139, entry withdrawn by HGNC[sd]
CHR: 1
MAP: 1q22|HUGO|C|
MAPLINK: default_human_cyto|ADORA2L2
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:637785
PMID: 7790006
>>140
LOCUSID: 140
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000677|6031156|na
NP: NP_000668|4501953
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|296|na|1.181230e+02
PRODUCT: adenosine A3 receptor
ASSEMBLY: AH003597,L22607
CONTIG: NT_019273.16|37539512|na|3038003|3042691|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_000677|6031156|na
XP: NP_000668|4501953|na
ACCNUM: AL390195|9801475|na|na|na
TYPE: g
PROT: CAC36045|13559064|1
ACCNUM: AY011231|12699245|na|na|na
TYPE: g
PROT: AAG35155|12699246|1
ACCNUM: L77729|1387982|na|na|na
TYPE: g
PROT: AAB02790|1387985|1
ACCNUM: L77730|1387983|na|na|na
TYPE: g
PROT: AAB02790|1387985|1
ACCNUM: S81868|1470321|na|na|na
TYPE: g
PROT: AAD14378|4262078|1
ACCNUM: AY136749|22658480|na|na|na
TYPE: m
PROT: AAN01275|22658481|1
ACCNUM: BC029831|20988264|na|na|na
TYPE: m
PROT: AAH29831|20988265|1
ACCNUM: L20463|349448|na|na|na
TYPE: m
PROT: AAA16365|349449|1
ACCNUM: L22607|413863|na|na|na
TYPE: m
PROT: AAA35949|413864|1
ACCNUM: X76981|440547|na|na|na
TYPE: m
PROT: CAA54288|440548|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P33765|1351831|0
OFFICIAL_SYMBOL: ADORA3
OFFICIAL_GENE_NAME: adenosine A3 receptor
ALIAS_SYMBOL: A3AR
PREFERRED_PRODUCT: adenosine A3 receptor
SUMMARY: Summary: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. Adenosine released during cardiac ischemia exerts a potent, protective effect in the heart. The adenosine A3 receptor is expressed on cardiac ventricular cells, and its activation protects the ventricular heart cell against injury during a subsequent exposure to ischemia.
CHR: 1
STS: SHGC-12531|1|40363|na|seq_map|epcr
STS: GDB:632846|1|158496|na|seq_map|epcr
COMP: 550|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A140[id]+AND+gene[obj_type]&QSTR=adora3&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=28847
UNIGENE: Hs.28847
OMIM: 600445
MAP: 1p21-p13|HUGO|C|
MAPLINK: default_human_gene|ADORA3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=140
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:249573
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000677
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000677
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+140
PMID: 14978250,14688204,12695530,12600879,12477932,12435805,12406340,12152652,11891221,9837869,9618527,9380026,9164961,8617363,8399349,8234299,7607699
GO: molecular function|A3 adenosine receptor activity, G-protein coupled|IEA|GO:0001613|GOA|na
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|na
GO: biological process|adenylate cyclase activation|TAS|GO:0007190|GOA|9380026
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|9164961
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8399349
GO: biological process|regulation of heart rate|TAS|GO:0008016|GOA|9837869
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|8399349,9380026
>>141
LOCUSID: 141
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001125|40549393|na
NP: NP_001116|4557263
CDD: pfam03747: ADP-ribosylglycohydrolase|8704|510|na|2.006280e+02
PRODUCT: ADP-ribosylarginine hydrolase
ASSEMBLY: BC063883,L13291
CONTIG: NT_005612.14|37550867|na|25793669|25803938|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_001125|40549393|na
XP: NP_001116|4557263|na
ACCNUM: BC020574|21594235|na|na|na
TYPE: m
ACCNUM: BC063883|39645362|na|na|na
TYPE: m
PROT: AAH63883|39645363|1
ACCNUM: BC074769|50960041|na|na|na
TYPE: m
PROT: AAH74769|50960042|1
ACCNUM: L13291|402477|na|na|na
TYPE: m
PROT: AAA35555|402478|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P54922|1703392|0
OFFICIAL_SYMBOL: ADPRH
OFFICIAL_GENE_NAME: ADP-ribosylarginine hydrolase
ALIAS_SYMBOL: ARH1
PREFERRED_PRODUCT: ADP-ribosylarginine hydrolase
SUMMARY: Summary: The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes, which require DTT for maximal activity, the human enzyme is DTT-independent.
CHR: 3
STS: RH12819|3|3671|na|seq_map|epcr
STS: STS-L13291|3|70598|na|seq_map|epcr
COMP: 874|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A141[id]+AND+gene[obj_type]&QSTR=adprh&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ADP-ribose-L-arginine cleaving enzyme
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99884
UNIGENE: Hs.99884
OMIM: 603081
ECNUM: 3.2.2.19
MAP: 3q13.31-q13.33|RefSeq|C|
MAPLINK: default_human_gene|ADPRH
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=141
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=141[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:226562
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001125
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001125
PMID: 12477932,8349667
GO: molecular function|ADP-ribosylarginine hydrolase activity|TAS|GO:0003875|GOA|8349667
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|protein modification|TAS|GO:0006464|GOA|8349667
>>142
LOCUSID: 142
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001618|11496989|na
NP: NP_001609|4501955
CDD: pfam05406: WGR domain|23632|235|na|9.454840e+01
CDD: pfam00644: Poly(ADP-ribose) polymerase catalytic domain|1202|837|na|3.265270e+02
CDD: pfam02877: Poly(ADP-ribose) polymerase, regulatory domain|3371|492|na|1.936310e+02
CDD: KOG1037: NAD+ ADP-ribosyltransferase Parp, required for poly-ADP ribosylation of nuclear proteins [Transcription, Replication, recombination and repair, Posttranslational modification, protein turnover, chaperones]|18830|613|na|2.403840e+02
PRODUCT: poly(ADP-ribosyl)transferase
ASSEMBLY: J03473,M32721
CONTIG: NT_004559.11|37548557|na|2724700|2771985|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_001618|11496989|na
XP: NP_001609|4501955|na
ACCNUM: AF524947|21693600|na|na|na
TYPE: g
PROT: AAM75364|21693601|1
ACCNUM: M29786|178188|na|na|na
TYPE: g
PROT: AAA51663|178190|1
ACCNUM: M60436|189535|na|na|na
TYPE: g
PROT: AAA60000|189536|1
ACCNUM: X16674|510112|na|na|na
TYPE: g
PROT: CAA34663|1017423|1
ACCNUM: X56140|35286|na|na|na
TYPE: g
PROT: CAA39606|825702|1
ACCNUM: BC008660|14713857|na|na|na
TYPE: m
ACCNUM: BC014206|33878476|na|na|na
TYPE: m
PROT: AAH14206|33878477|1
ACCNUM: BC018620|17391359|na|na|na
TYPE: m
ACCNUM: BC021045|18042934|na|na|na
TYPE: m
ACCNUM: BC037545|22902365|na|na|na
TYPE: m
PROT: AAH37545|22902366|1
ACCNUM: J03473|337423|na|na|na
TYPE: m
PROT: AAB59447|337424|1
ACCNUM: M17081|178151|na|na|na
TYPE: m
PROT: AAA51599|178152|1
ACCNUM: M18112|190166|na|na|na
TYPE: m
PROT: AAA60137|190167|1
ACCNUM: M32721|190266|na|na|na
TYPE: m
PROT: AAA60155|190267|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P09874|130781|0
OFFICIAL_SYMBOL: ADPRT
OFFICIAL_GENE_NAME: ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)
ALIAS_SYMBOL: PARP
ALIAS_SYMBOL: PPOL
ALIAS_SYMBOL: ADPRT1
ALIAS_SYMBOL: PARP-1
ALIAS_SYMBOL: pADPRT-1
PREFERRED_PRODUCT: poly(ADP-ribosyl)transferase
SUMMARY: Summary: This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes.
CHR: 1
STS: RH70493|1|3628|na|na|epcr
STS: SHGC-76015|1|23752|na|seq_map|epcr
STS: G07110|1|82324|na|seq_map|epcr
STS: RH11161|-|91506|na|na|epcr
STS: GDB:196988|-|155905|na|na|epcr
COMP: 1222|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A142[id]+AND+gene[obj_type]&QSTR=adprt&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: poly(ADP-ribose) synthetase
ALIAS_PROT: ADP-ribosyltransferase NAD(+)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177766
UNIGENE: Hs.177766
OMIM: 173870
ECNUM: 2.4.2.30
MAP: 1q41-q42|RefSeq|C|
MAPLINK: default_human_gene|ADPRT
REL2: 155348|NP_705928|integrase|requires|NP_001609|poly(ADP-ribosyl)transferase|PARP has been described as a requirement for efficient HIV-1 integration, however a conflicting report indicates it is not essential for efficient lentivirus integration|11248084,11070027
REL2: 155871|NP_057853|Tat, p14|modifies|NP_001609|poly(ADP-ribosyl)transferase|Treatment of primary human microvascular endothelial cells of lung origin with HIV-1 Tat caused cleavage of poly(A/DP)-ribose polymerase as a result of caspase activation|11509621
REL2: 155871|NP_057853|Tat, p14|modified by|NP_001609|poly(ADP-ribosyl)transferase|Poly(ADP-ribose) polymerase modifies HIV-1 Tat with poly(ADP-ribose), suggesting a role for this enzyme in the regulation of HIV-1 gene expression|10405328
REL2: 155871|NP_057853|Tat, p14|stimulates|NP_001609|poly(ADP-ribosyl)transferase|Purified recombinant HIV-1 Tat protein stimulates poly(ADP-ribose polymerase in a dose dependent manner|10405328
REL2: 155871|NP_057853|Tat, p14|regulates|NP_001609|poly(ADP-ribosyl)transferase|The poly(A) site in the HIV-1 5'-LTR is occluded in a Tat-dependent manner, suggesting a role for Tat in regulating this nucleotide signal|8491200
REL2: 155871|NP_057853|Tat, p14|modifies|NP_001609|poly(ADP-ribosyl)transferase|HIV-1 Tat induces the cleavage of PARP and activation of apoptosis through a p56lck dependent mechanism|10799874
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=142
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=142[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119508
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001618
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001618
DB_DESCR: PharmGKB: PA32
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA32
PMID: 15133513,14754756,14715657,14699148,14642390,14612404,14596914,14585985,14557488,12960163,12930846,12853070,12714254,12704785,12674511,12673357,12668662,12642583,12632415,12606781,12592385,12528821,12496481,12477932,12117981,11956622,11846007,11781832,11756665,11509621,11248084,11070027,10958667,10944198,10799874,10471503,10405328,10077636,8491200,3120710,3113420,3103132,3029772,2891139,2824474,2513174,2498872,2125269,1424803
GO: molecular function|DNA binding|TAS|GO:0003677|GOA|2513174
GO: biological process|DNA repair|TAS|GO:0006281|GOA|10958667
GO: molecular function|NAD+ ADP-ribosyltransferase activity|TAS|GO:0003950|GOA|2513174
GO: biological process|cell growth and/or maintenance|TAS|GO:0008151|GOA|2824474
GO: cellular component|nucleus|TAS|GO:0005634|GOA|2513174
GO: biological process|protein amino acid ADP-ribosylation|TAS|GO:0006471|GOA|2513174
GO: biological process|transcription from Pol II promoter|TAS|GO:0006366|GOA|10944198
GO: molecular function|transferase activity, transferring glycosyl groups|IEA|GO:0016757|GOA|na
>>143
LOCUSID: 143
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_006437|11496990|na
NP: NP_006428|5915660
CDD: pfam00533: BRCA1 C Terminus (BRCT) domain|23016|130|na|5.424250e+01
CDD: pfam00092: von Willebrand factor type A domain|22901|187|na|7.625860e+01
CDD: smart00609: Vault protein Inter-alpha-Trypsin domain|9009|381|na|1.508320e+02
CDD: KOG1037: NAD+ ADP-ribosyltransferase Parp, required for poly-ADP ribosylation of nuclear proteins [Transcription, Replication, recombination and repair, Posttranslational modification, protein turnover, chaperones]|18830|1038|na|4.040940e+02
PRODUCT: poly(ADP-ribosyl)transferase-like 1
ASSEMBLY: AF057160,AF158255
CONTIG: NT_024524.13|37546841|na|5975070|6066948|-|13|reference
EVID: supported by alignment with mRNA
XM: NM_006437|11496990|na
XP: NP_006428|5915660|na
ACCNUM: AL359763|10045472|na|na|na
TYPE: g
PROT: CAC21562|12313923|1
ACCNUM: AF057160|3694919|na|na|na
TYPE: m
PROT: AAC62491|3694920|1
ACCNUM: AF158255|5702305|na|na|na
TYPE: m
PROT: AAD47250|5702306|1
ACCNUM: D79999|27529697|na|na|na
TYPE: m
PROT: BAA11494|27529698|2
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q9UKK3|17380231|0
OFFICIAL_SYMBOL: ADPRTL1
OFFICIAL_GENE_NAME: ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1
ALIAS_SYMBOL: PH5P
ALIAS_SYMBOL: p193
ALIAS_SYMBOL: PARPL
ALIAS_SYMBOL: VPARP
ALIAS_SYMBOL: VAULT3
ALIAS_SYMBOL: KIAA0177
PREFERRED_PRODUCT: poly(ADP-ribosyl)transferase-like 1
SUMMARY: Summary: This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus.
CHR: 13
STS: RH25392|13|17217|na|na|epcr
STS: SHGC-58546|13|94391|na|seq_map|epcr
COMP: 4699|13|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=13&MAPS=genes-r-org/rat-chr/human%3A13,genes-r-org/mouse-chr/human%3A13,genes-r-org/human-chr13&query=e%3A143[id]+AND+gene[obj_type]&QSTR=adprtl1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: PARP-related
ALIAS_PROT: H5 proline-rich
ALIAS_PROT: I-alpha-I-related
ALIAS_PROT: vault protein, 193-kDa
ALIAS_PROT: poly(ADP-ribose) synthetase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437959
UNIGENE: Hs.437959
OMIM: 607519
ECNUM: 2.4.2.30
MAP: 13q11|RefSeq|C|
MAPLINK: default_human_gene|ADPRTL1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=143
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=143[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9836811
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006437
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006437
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA0177
PMID: 12829019,12140175,12123754,12101391,11855821,11479319,11291045,10644454,10477748,10100603,8724849
GO: biological process|DNA repair|NAS|GO:0006281|GOA|12101391
GO: molecular function|NAD+ ADP-ribosyltransferase activity|NAS|GO:0003950|GOA|10644454
GO: biological process|inflammatory response|IMP|GO:0006954|GOA|12123754
GO: biological process|necrosis|IMP|GO:0008220|GOA|12140175
GO: cellular component|nucleus|NAS|GO:0005634|GOA|10644454
GO: biological process|protein amino acid ADP-ribosylation|NAS|GO:0006471|GOA|10644454
GO: biological process|response to drug|NAS|GO:0042493|GOA|11291045
GO: cellular component|ribonucleoprotein complex|NAS|GO:0030529|GOA|11479319
GO: molecular function|transferase activity, transferring glycosyl groups|IEA|GO:0016757|GOA|na
GO: biological process|transport|NAS|GO:0006810|GOA|11855821
>>144
LOCUSID: 144
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_002655|28976149|na|1|3730
CONTIG: NT_009952.14|37544901|na|24678726|24682255|+|13|na
EVID: alignment with NG_002655
XG: NG_002655|28976149|na
ACCNUM: AL442128|11878447|na|54482|58011
TYPE: g
OFFICIAL_SYMBOL: ADPRTP1
OFFICIAL_GENE_NAME: ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1
ALIAS_SYMBOL: PPOLP1
CHR: 13
MAP: 13q34|HUGO|C|
MAPLINK: default_human_gene|ADPRTP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=144
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119509
PMID: 2891139
>>145
LOCUSID: 145
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_002656|28976152|na|1|1130
CONTIG: NT_026437.10|29736559|na|43509765|43510694|+|14|na
EVID: alignment with NG_002656
XG: NG_002656|28976152|na
ACCNUM: AL137191|13897284|na|102693|101764
TYPE: g
OFFICIAL_SYMBOL: ADPRTP2
OFFICIAL_GENE_NAME: ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 2
ALIAS_SYMBOL: PPOLP2
CHR: 14
MAP: 14q22|RefSeq|C|
MAPLINK: default_human_gene|ADPRTP2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=145
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119510
PMID: 2891139
>>146
LOCUSID: 146
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000678|15451784|na
NP: NP_000669|4501957
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|443|na|1.747470e+02
PRODUCT: alpha-1D-adrenergic receptor
ASSEMBLY: D29952,U03864
CONTIG: NT_011387.8|27501067|na|4141816|4169659|-|20|reference
EVID: supported by alignment with mRNA
XM: NM_000678|15451784|na
XP: NP_000669|4501957|na
ACCNUM: D29952|914933|na|na|na
TYPE: g
PROT: BAA06222|914934|1
ACCNUM: L31772|666894|na|na|na
TYPE: m
PROT: AAB59487|666895|1
ACCNUM: M76446|177806|na|na|na
TYPE: m
PROT: AAA35496|177807|1
ACCNUM: S70782|547219|na|na|na
TYPE: m
PROT: AAB31163|7690135|2
ACCNUM: U03864|494980|na|na|na
TYPE: m
PROT: AAB60351|494981|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P25100|1168243|0
OFFICIAL_SYMBOL: ADRA1D
OFFICIAL_GENE_NAME: adrenergic, alpha-1D-, receptor
ALIAS_SYMBOL: DAR
ALIAS_SYMBOL: ADRA1
ALIAS_SYMBOL: ADRA1A
ALIAS_SYMBOL: ADRA1R
ALIAS_SYMBOL: ALPHA1
PREFERRED_PRODUCT: alpha-1D-adrenergic receptor
SUMMARY: Summary: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region.
CHR: 20
STS: STS-M76446|20|6677|na|seq_map|epcr
STS: STS-M76446|20|9611|na|seq_map|epcr
STS: RH64141|20|29855|na|seq_map|epcr
COMP: 551|20|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=20&MAPS=genes-r-org/rat-chr/human%3A20,genes-r-org/mouse-chr/human%3A20,genes-r-org/human-chr20&query=e%3A146[id]+AND+gene[obj_type]&QSTR=adra1d&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adrenergic, alpha-1A-, receptor
ALIAS_PROT: adrenergic, alpha -1D-, receptor
ALIAS_PROT: adrenergic, alpha-1D-, receptor (NOTE: redefinition of symbol)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=557
UNIGENE: Hs.557
OMIM: 104219
MAP: 20p13|HUGO|C|
MAPLINK: default_human_gene|ADRA1D
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=146
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=146[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118749
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000678
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000678
DB_DESCR: PharmGKB: PA24597
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24597
PMID: 14736874,14626446,12409310,10969806,10860850,10820200,8183249,8125015,8039425,8024574,7815325,7746284,1656955,1359975
GO: biological process|DNA metabolism|TAS|GO:0006259|GOA|10969806
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|1656955
GO: biological process|G-protein signaling, coupled to cAMP nucleotide second messenger|TAS|GO:0007188|GOA|10820200
GO: molecular function|adrenoceptor activity|IEA|GO:0004935|GOA|na
GO: molecular function|alpha1-adrenergic receptor activity|TAS|GO:0004937|GOA|10820200
GO: biological process|cell proliferation|TAS|GO:0008283|GOA|10820200
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|1656955
GO: biological process|development|TAS|GO:0007275|GOA|10820200
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|7746284
GO: biological process|positive regulation of cell proliferation|TAS|GO:0008284|GOA|10860850
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>147
LOCUSID: 147
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000679|15451783|na
NP: NP_000670|4501959
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|574|na|2.252090e+02
PRODUCT: alpha-1B-adrenergic receptor
ASSEMBLY: M99589,U03865
CONTIG: NT_023133.11|29796698|na|4153298|4209109|+|5|reference
EVID: supported by alignment with mRNA
XM: NM_000679|15451783|na
XP: NP_000670|4501959|na
ACCNUM: M99589|178210|na|na|na
TYPE: g
ACCNUM: M99590|178211|na|na|na
TYPE: g
ACCNUM: L31773|666890|na|na|na
TYPE: m
PROT: AAB59485|666891|1
ACCNUM: U03865|494982|na|na|na
TYPE: m
PROT: AAB60352|494983|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35368|1168245|0
OFFICIAL_SYMBOL: ADRA1B
OFFICIAL_GENE_NAME: adrenergic, alpha-1B-, receptor
ALIAS_SYMBOL: ADRA1
ALIAS_SYMBOL: ALPHA1BAR
PREFERRED_PRODUCT: alpha-1B-adrenergic receptor
SUMMARY: Summary: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region.
CHR: 5
COMP: 20168|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A147[id]+AND+gene[obj_type]&QSTR=adra1b&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adrenergic, alpha -1B-, receptor
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=416813
UNIGENE: Hs.416813
OMIM: 104220
MAP: 5q23-q32|HUGO|C|
MAPLINK: default_human_gene|ADRA1B
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=147
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=147[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127901
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000679
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000679
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+147
PMID: 14736874,14626446,12695539,12409310,10820200,8183249,8024574,7815325,2154750,1706716,1662393,1328250
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|2154750
GO: biological process|G-protein signaling, coupled to cAMP nucleotide second messenger|TAS|GO:0007188|GOA|10820200
GO: molecular function|adrenoceptor activity|IEA|GO:0004935|GOA|na
GO: molecular function|alpha1-adrenergic receptor activity|TAS|GO:0004937|GOA|1328250
GO: biological process|cell proliferation|TAS|GO:0008283|GOA|10820200
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|1328250
GO: biological process|development|TAS|GO:0007275|GOA|10820200
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|1328250
GO: biological process|protein kinase cascade|TAS|GO:0007243|GOA|10820200
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>148
LOCUSID: 148
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000680|4501960|na
NP: NP_000671|4501961
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|523|na|2.055630e+02
PRODUCT: alpha-1A-adrenergic receptor isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes a 33 aa shorter isoform than variant 2. The N-terminal 423 aa of this isoform are identical to those of the other 3 isoforms.
ASSEMBLY: D25235
NM: NM_033302|15451756|na
NP: NP_150645|15451757
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|518|na|2.036370e+02
PRODUCT: alpha-1A-adrenergic receptor isoform 3
TRANSVAR: Transcript Variant: This variant (3) encodes the shortest isoform. Its N-terminal 423 aa are identical to those of the other 3 isoforms.
ASSEMBLY: D32201
NM: NM_033303|15451758|na
NP: NP_150646|15451759
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|532|na|2.090300e+02
PRODUCT: alpha-1A-adrenergic receptor isoform 2
TRANSVAR: Transcript Variant: This variant (2) encodes the longest isoform. Its N-terminal 423 aa are identical to those of the other 3 isoforms.
ASSEMBLY: D32202
NM: NM_033304|15451760|na
NP: NP_150647|15451761
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|519|na|2.040230e+02
PRODUCT: alpha-1A-adrenergic receptor isoform 4
TRANSVAR: Transcript Variant: This variant (4) encodes a 44 aa shorter isoform than variant 2. The N-terminal 423 aa of this isoform are identical to those of the other 3 isoforms.
ASSEMBLY: AF013261
CONTIG: NT_023666.16|37552400|na|4979952|5097207|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_000680|4501960|na
XP: NP_000671|4501961|na
EVID: supported by alignment with mRNA
XM: NM_033302|15451756|na
XP: NP_150645|15451757|na
EVID: supported by alignment with mRNA
XM: NM_033303|15451758|na
XP: NP_150646|15451759|na
EVID: supported by alignment with mRNA
XM: NM_033304|15451760|na
XP: NP_150647|15451761|na
ACCNUM: AB065703|21928676|na|na|na
TYPE: g
PROT: BAC05926|21928677|1
ACCNUM: AY389505|37362412|na|na|na
TYPE: g
PROT: AAQ91331|37362413|1
ACCNUM: U03866|494984|na|na|na
TYPE: g
PROT: AAB60353|494985|1
ACCNUM: U08994|497243|na|na|na
TYPE: g
PROT: AAA18783|497244|1
ACCNUM: AF013261|2978555|na|na|na
TYPE: m
PROT: AAC06138|2978556|1
ACCNUM: AF395806|15004693|na|na|na
TYPE: m
PROT: AAK77197|15004694|1
ACCNUM: AY491775|40362750|na|na|na
TYPE: m
PROT: AAR84644|40362751|1
ACCNUM: AY491776|40362752|na|na|na
TYPE: m
PROT: AAR84645|40362753|1
ACCNUM: AY491777|40362754|na|na|na
TYPE: m
PROT: AAR84646|40362755|1
ACCNUM: AY491778|40362756|na|na|na
TYPE: m
PROT: AAR84647|40362757|1
ACCNUM: D25235|433200|na|na|na
TYPE: m
PROT: BAA04960|433201|1
ACCNUM: D32201|927210|na|na|na
TYPE: m
PROT: BAA06900|927211|1
ACCNUM: D32202|927208|na|na|na
TYPE: m
PROT: BAA06901|927209|1
ACCNUM: L31774|666892|na|na|na
TYPE: m
PROT: AAB59486|666893|1
ACCNUM: S76001|913817|na|na|na
TYPE: m
PROT: AAD14205|4261905|1
ACCNUM: U02569|409028|na|na|na
TYPE: m
PROT: AAA93114|409029|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35348|1168246|0
OFFICIAL_SYMBOL: ADRA1A
OFFICIAL_GENE_NAME: adrenergic, alpha-1A-, receptor
ALIAS_SYMBOL: ADRA1C
ALIAS_SYMBOL: ADRA1L1
ALIAS_SYMBOL: ALPHA1AAR
PREFERRED_PRODUCT: alpha-1A-adrenergic receptor isoform 1
PREFERRED_PRODUCT: alpha-1A-adrenergic receptor isoform 2
PREFERRED_PRODUCT: alpha-1A-adrenergic receptor isoform 3
PREFERRED_PRODUCT: alpha-1A-adrenergic receptor isoform 4
SUMMARY: Summary: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates 4 transcript variants, which encode 4 different isoforms with distinct C termini but having similar ligand binding properties.
CHR: 8
STS: SGC35557|8|8124|na|seq_map|epcr
STS: SGC35558|8|34325|na|seq_map|epcr
STS: D8S2033|8|81797|D8S2033|seq_map|epcr
COMP: 30981|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A148[id]+AND+gene[obj_type]&QSTR=adra1a&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adrenergic, alpha-1C-, receptor
ALIAS_PROT: adrenergic, alpha -1A-, receptor
ALIAS_PROT: adrenergic, alpha-1A-, receptor (NOTE: redefinition of symbol)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=52931
UNIGENE: Hs.52931
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=520951
UNIGENE: Hs.520951
OMIM: 104221
MAP: 8p21-p11.2|RefSeq|C|
MAPLINK: default_human_gene|ADRA1A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=148
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=148[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128088
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033303
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033303
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+148
PMID: 14626446,12782672,12707939,12409310,10860850,10671514,10493934,9490024,8564208,8396931,8183249,7815325,7805763,7737411,1970822
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|10860850
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|10860850
GO: molecular function|adrenoceptor activity|IEA|GO:0004935|GOA|na
GO: molecular function|alpha1-adrenergic receptor activity|IEA|GO:0004937|GOA|7737411,9490024,10860850
GO: molecular function|alpha1-adrenergic receptor activity|NAS|GO:0004937|GOA|7737411,9490024,10860850
GO: molecular function|alpha1-adrenergic receptor activity|TAS|GO:0004937|GOA|7737411,9490024,10860850
GO: biological process|apoptosis|TAS|GO:0006915|GOA|10671514
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|8396931
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|integral to membrane|NAS|GO:0016021|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8396931
GO: biological process|negative regulation of cell proliferation|TAS|GO:0008285|GOA|10860850
GO: biological process|protein kinase cascade|TAS|GO:0007243|GOA|10671514
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|8396931
GO: biological process|smooth muscle contraction|TAS|GO:0006939|GOA|8183249
>>149
LOCUSID: 149
CURRENT_LOCUSID: 146
ORGANISM: Homo sapiens
>>150
LOCUSID: 150
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000681|15718669|na
NP: NP_000672|15718670
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|112|na|4.724630e+01
PRODUCT: alpha-2A-adrenergic receptor
ASSEMBLY: AF284095
CONTIG: NT_030059.11|37550928|na|31585447|31589096|+|10|reference
EVID: supported by alignment with mRNA
XM: NM_000681|15718669|na
XP: NP_000672|15718670|na
ACCNUM: AF262016|9864781|na|na|na
TYPE: g
PROT: AAG00447|9864782|2
ACCNUM: AF281308|9652209|na|na|na
TYPE: g
PROT: AAF91441|9652210|1
ACCNUM: AF316894|12698667|na|na|na
TYPE: g
PROT: AAK01634|12698668|1
ACCNUM: AY032736|14029162|na|na|na
TYPE: g
PROT: AAK51162|14029163|1
ACCNUM: M18415|178191|na|na|na
TYPE: g
PROT: AAA51664|178192|1
ACCNUM: M23533|178195|na|na|na
TYPE: g
PROT: AAA51665|178196|1
ACCNUM: AF284095|13447750|na|na|na
TYPE: m
PROT: AAK26743|13447751|1
ACCNUM: BC035047|23272892|na|na|na
TYPE: m
ACCNUM: BC050414|29791941|na|na|na
TYPE: m
PROT: AAH50414|37574030|2
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P08913|1351829|0
OFFICIAL_SYMBOL: ADRA2A
OFFICIAL_GENE_NAME: adrenergic, alpha-2A-, receptor
ALIAS_SYMBOL: ADRA2
ALIAS_SYMBOL: ADRAR
ALIAS_SYMBOL: ZNF32
ALIAS_SYMBOL: ADRA2R
ALIAS_SYMBOL: ALPHA2AAR
PREFERRED_PRODUCT: alpha-2A-adrenergic receptor
SUMMARY: Summary: Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences.
CHR: 10
STS: D10S1861|10|39286|D10S1861|seq_map|epcr
STS: STS-AA040321|10|40025|na|seq_map|epcr
STS: RH93859|10|87259|na|seq_map|epcr
STS: GDB:193856|-|155764|na|na|epcr
COMP: 552|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A150[id]+AND+gene[obj_type]&QSTR=adra2a&cmd=focus&fill=10|Mouse
ALIAS_PROT: alpha-2AAR subtype C10
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=249159
UNIGENE: Hs.249159
OMIM: 104210
MAP: 10q24-q26|RefSeq|C|
MAPLINK: default_human_gene|ADRA2A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=150
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=150[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120538
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000681
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000681
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+150
PMID: 15070958,15028622,12946937,12815749,12707939,12529373,12477932,12370125,12080184,12054508,12019440,10948191,10896916,10647009,9624180,8226727,8011430,6259160,2823383,2568356,1385431,1354394
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|1354394
GO: biological process|RAS protein signal transduction|TAS|GO:0007265|GOA|8226727
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|9624180
GO: biological process|actin cytoskeleton organization and biogenesis|TAS|GO:0030036|GOA|9624180
GO: biological process|activation of MAPK|TAS|GO:0000187|GOA|10896916
GO: molecular function|adrenoceptor activity|IEA|GO:0004935|GOA|na
GO: molecular function|alpha2-adrenergic receptor activity|TAS|GO:0004938|GOA|10896916
GO: biological process|cell motility|TAS|GO:0006928|GOA|9624180
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|1354394
GO: biological process|negative regulation of adenylate cyclase activity|TAS|GO:0007194|GOA|10896916
GO: biological process|positive regulation of cell proliferation|TAS|GO:0008284|GOA|10896916
GO: molecular function|potassium channel regulator activity|TAS|GO:0015459|GOA|1354394
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|2823383,10896916
>>151
LOCUSID: 151
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000682|33598959|na
NP: NP_000673|33598960
PRODUCT: alpha-2B-adrenergic receptor
ASSEMBLY: AF005900,M34041
CONTIG: NT_026970.9|29791404|na|1452452|1455717|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_000682|33598959|na
XP: NP_000673|33598960|na
ACCNUM: AF005900|33439705|na|na|na
TYPE: g
PROT: AAB62558|2245628|1
ACCNUM: AF316895|12698669|na|na|na
TYPE: g
PROT: AAK01635|12698670|1
ACCNUM: M34041|178197|na|na|na
TYPE: g
PROT: AAA51666|178198|1
ACCNUM: M38742|177867|na|na|na
TYPE: g
PROT: AAA62823|177868|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P18089|27151763|0
OFFICIAL_SYMBOL: ADRA2B
OFFICIAL_GENE_NAME: adrenergic, alpha-2B-, receptor
ALIAS_SYMBOL: ADRA2L1
ALIAS_SYMBOL: ADRARL1
ALIAS_SYMBOL: ADRA2RL1
ALIAS_SYMBOL: ALPHA2BAR
PREFERRED_PRODUCT: alpha-2B-adrenergic receptor
SUMMARY: Summary: Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. This gene encodes the alpha2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide exchange protein that functions in regulation of translation. A polymorphic variant of the alpha2B subtype, which lacks 3 glutamic acids from a glutamic acid repeat element, was identified to have decreased G protein-coupled receptor kinase-mediated phosphorylation and desensitization; this polymorphic form is also associated with reduced basal metabolic rate in obese subjects and may therefore contribute to the pathogenesis of obesity. This gene contains no introns in either its coding or untranslated sequences.
CHR: 2
STS: RH80277|2|89742|na|seq_map|epcr
COMP: 553|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A151[id]+AND+gene[obj_type]&QSTR=adra2b&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: alpha-2-adrenergic receptor-like 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=247686
UNIGENE: Hs.247686
OMIM: 104260
MAP: 2p13-q13|HUGO|C|
MAPLINK: default_human_gene|ADRA2B
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=151
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=151[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120539
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000682
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000682
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+151
PMID: 14744925,12946937,12822042,12535806,11056163,10647009,10404816,9235896,2842764,2173582,2172775,2164221
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|2164221
GO: molecular function|adrenoceptor activity|IEA|GO:0004935|GOA|na
GO: molecular function|alpha2-adrenergic receptor activity|TAS|GO:0004938|GOA|2164221
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|2164221
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|2164221
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>152
LOCUSID: 152
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000683|15718672|na
NP: NP_000674|4501967
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|137|na|5.687630e+01
PRODUCT: alpha-2C-adrenergic receptor
ASSEMBLY: J03853,U72648
CONTIG: NT_006081.16|37540627|na|1153972|1156790|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_000683|15718672|na
XP: NP_000674|4501967|na
ACCNUM: AF280399|11055418|na|na|na
TYPE: g
PROT: AAG28076|11055419|1
ACCNUM: AF280400|11055420|na|na|na
TYPE: g
PROT: AAG28077|11055421|1
ACCNUM: D13538|219405|na|na|na
TYPE: g
PROT: BAA02737|219406|1
ACCNUM: U72648|3914602|na|na|na
TYPE: g
PROT: AAC78723|1628638|1
ACCNUM: X72924|458814|na|na|na
TYPE: g
ACCNUM: J03853|178193|na|na|na
TYPE: m
PROT: AAA35513|178194|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P18825|20141211|0
OFFICIAL_SYMBOL: ADRA2C
OFFICIAL_GENE_NAME: adrenergic, alpha-2C-, receptor
ALIAS_SYMBOL: ADRA2L2
ALIAS_SYMBOL: ADRARL2
ALIAS_SYMBOL: ADRA2RL2
ALIAS_SYMBOL: ALPHA2CAR
PREFERRED_PRODUCT: alpha-2C-adrenergic receptor
SUMMARY: Summary: Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences.
CHR: 4
STS: STS-J03853|4|13513|na|seq_map|epcr
STS: D4S3282|4|75023|D4S3282|seq_map|epcr
COMP: 20170|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A152[id]+AND+gene[obj_type]&QSTR=adra2c&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: alpha2-AR-C4
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=123022
UNIGENE: Hs.123022
OMIM: 104250
MAP: 4p16|RefSeq|C|
MAPLINK: default_human_gene|ADRA2C
PHENOTYPE: Congestive heart failure, susceptibility to
PHENOTYPE_ID: 104250
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=152
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=152[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120540
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000683
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000683
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+152
PMID: 12946937,10945659,10647009,10196213,9371698,8188260,7688069,2842764,1849485
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|9371698
GO: biological process|activation of MAPK|TAS|GO:0000187|GOA|10196213
GO: molecular function|adrenoceptor activity|IEA|GO:0004935|GOA|na
GO: molecular function|alpha2-adrenergic receptor activity|TAS|GO:0004938|GOA|9371698
GO: biological process|behavior|NR|GO:0007610|GOA|na
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|9371698
GO: cellular component|endosome|TAS|GO:0005768|GOA|10196213
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9371698
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>153
LOCUSID: 153
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000684|4557264|na
NP: NP_000675|4557265
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|515|na|2.024820e+02
CDD: KOG4219: G protein-coupled receptor [Signal transduction mechanisms]|21995|126|na|5.262560e+01
PRODUCT: beta-1-adrenergic receptor
ASSEMBLY: J03019
CONTIG: NT_030059.11|37550928|na|34552332|34554054|+|10|reference
EVID: supported by alignment with mRNA
XM: NM_000684|4557264|na
XP: NP_000675|4557265|na
ACCNUM: AF169006|5833814|na|na|na
TYPE: g
PROT: AAD53696|5833815|1
ACCNUM: AF169007|5833816|na|na|na
TYPE: g
PROT: AAD53697|5833817|1
ACCNUM: AY567837|45505191|na|na|na
TYPE: g
PROT: AAS66983|45505192|1
ACCNUM: J03019|178199|na|na|na
TYPE: m
PROT: AAA51667|178200|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P08588|48429211|0
OFFICIAL_SYMBOL: ADRB1
OFFICIAL_GENE_NAME: adrenergic, beta-1-, receptor
ALIAS_SYMBOL: RHR
ALIAS_SYMBOL: B1AR
ALIAS_SYMBOL: ADRB1R
ALIAS_SYMBOL: BETA1AR
PREFERRED_PRODUCT: beta-1-adrenergic receptor
SUMMARY: Summary: The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine.
CHR: 10
STS: RH68963|10|13016|na|seq_map|epcr
STS: STS-U29690|-|13348|na|na|epcr
STS: GDB:193846|10|155762|na|seq_map|epcr
COMP: 20171|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A153[id]+AND+gene[obj_type]&QSTR=adrb1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99913
UNIGENE: Hs.99913
OMIM: 109630
MAP: 10q24-q26|RefSeq|C|
MAPLINK: default_human_gene|ADRB1
PHENOTYPE: congestive heart failure, susceptibility to
PHENOTYPE_ID: 109630
PHENOTYPE: Resting heart rate
PHENOTYPE_ID: 607276
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=153
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=153[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119654
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000684
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000684
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+153
DB_DESCR: PharmGKB: PA38
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA38
PMID: 14502278,12847069,12815745,12529373,12391161,12270132,12244098,12197595,12140284,12106601,12069593,12032746,11854867,10212248,8892658,7583452,2825170,2465637,2154750
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|na
GO: biological process|adenylate cyclase activation|TAS|GO:0007190|GOA|10212248
GO: molecular function|beta1-adrenergic receptor activity|TAS|GO:0004940|GOA|10212248
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|10212248
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>154
LOCUSID: 154
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000024|15718673|na
NP: NP_000015|4501969
PRODUCT: adrenergic, beta-2-, receptor, surface
ASSEMBLY: M15169
CONTIG: NT_029289.10|37550092|na|9369112|9371122|+|5|reference
EVID: supported by alignment with mRNA
XM: NM_000024|15718673|na
XP: NP_000015|4501969|na
ACCNUM: AF022953|2570526|na|na|na
TYPE: g
PROT: AAB82148|2570527|1
ACCNUM: AF022954|2570528|na|na|na
TYPE: g
PROT: AAB82149|2570529|1
ACCNUM: AF022955|2570530|na|na|na
TYPE: g
PROT: AAB82150|2570531|1
ACCNUM: AF022956|2570532|na|na|na
TYPE: g
PROT: AAB82151|2570533|1
ACCNUM: AF169225|5714687|na|na|na
TYPE: g
PROT: AAD48036|5714688|1
ACCNUM: AF202305|6573152|na|na|na
TYPE: g
PROT: AAF17569|6573153|1
ACCNUM: AF203386|6636495|na|na|na
TYPE: g
PROT: AAF20199|6636496|1
ACCNUM: J02960|178203|na|na|na
TYPE: g
PROT: AAA88017|178204|1
ACCNUM: Y00106|29370|na|na|na
TYPE: g
PROT: CAA68289|29371|1
ACCNUM: AY136741|22658464|na|na|na
TYPE: m
PROT: AAN01267|22658465|1
ACCNUM: BC012481|34190268|na|na|na
TYPE: m
PROT: AAH12481|34190269|2
ACCNUM: BC063486|39645302|na|na|na
TYPE: m
PROT: AAH63486|39645303|1
ACCNUM: BC073856|49258124|na|na|na
TYPE: m
PROT: AAH73856|49258125|1
ACCNUM: M15169|178201|na|na|na
TYPE: m
PROT: AAA88015|178202|1
ACCNUM: X04827|29372|na|na|na
TYPE: m
PROT: CAA28511|29373|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P07550|114765|0
OFFICIAL_SYMBOL: ADRB2
OFFICIAL_GENE_NAME: adrenergic, beta-2-, receptor, surface
ALIAS_SYMBOL: BAR
ALIAS_SYMBOL: B2AR
ALIAS_SYMBOL: ADRBR
ALIAS_SYMBOL: ADRB2R
ALIAS_SYMBOL: BETA2AR
PREFERRED_PRODUCT: adrenergic, beta-2-, receptor, surface
SUMMARY: Summary: This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2.  This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene contains no introns in either its coding or untranslated sequences. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes.
CHR: 5
STS: WI-19151|5|65272|na|seq_map|epcr
STS: RH79898|5|87528|na|seq_map|epcr
STS: GDB:294209|5|156395|na|seq_map|epcr
STS: GDB:606222|-|158215|na|na|epcr
STS: GDB:606238|-|158219|na|na|epcr
STS: ADRB2sts1|-|258478|na|na|epcr
STS: PMC109640P1|-|270173|na|na|epcr
STS: PMC115184P1|-|270293|na|na|epcr
COMP: 30948|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A154[id]+AND+gene[obj_type]&QSTR=adrb2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: beta-2 adrenoceptor
ALIAS_PROT: catecholamine receptor
ALIAS_PROT: beta-2 adrenergic receptor
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2551
UNIGENE: Hs.2551
OMIM: 109690
MAP: 5q31-q32|HUGO|C|
MAPLINK: default_human_gene|ADRB2
PHENOTYPE: Asthma, nocturnal, susceptibility to
PHENOTYPE_ID: 109690
PHENOTYPE: Obesity, susceptibility to
PHENOTYPE_ID: 601665
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=154
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=154[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120541
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/120541.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000024
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000024
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+154
DB_DESCR: PharmGKB: PA39
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA39
PMID: 14981238,14665698,14657864,14610472,14557486,14557466,14500986,12900437,12888635,12869379,12832031,12727985,12716862,12682000,12569260,12527744,12477932,12439523,12429837,12409304,12391272,12244098,12215468,12167654,12142724,12142723,12140284,12106601,12083965,12080445,12030897,11884023,11821707,11821698,11809767,11798846,11718682,11441182,10734107,9924018,9507004,9228019,8892658,8386307,8383511,7915137,7901205,3034889,3033609,3026848,3025863,2823249,1371121,154
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|9924018
GO: biological process|G-protein signaling, coupled to cAMP nucleotide second messenger|TAS|GO:0007188|GOA|2823249
GO: biological process|activation of MAPK|TAS|GO:0000187|GOA|9924018
GO: biological process|adenylate cyclase activation|TAS|GO:0007190|GOA|8386307
GO: molecular function|beta2-adrenergic receptor activity|TAS|GO:0004941|GOA|10734107
GO: cellular component|endosome|TAS|GO:0005768|GOA|10734107
GO: biological process|endosome to lysosome transport|TAS|GO:0008333|GOA|9507004
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9228019
GO: cellular component|lysosome|TAS|GO:0005764|GOA|9507004
GO: biological process|protein kinase cascade|TAS|GO:0007243|GOA|10734107
GO: molecular function|receptor activity|NR|GO:0004872|GOA|na
GO: biological process|receptor mediated endocytosis|TAS|GO:0006898|GOA|10734107
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
GO: biological process|transmembrane receptor protein tyrosine kinase activation (dimerization)|TAS|GO:0007171|GOA|10734107
>>155
LOCUSID: 155
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000025|4557266|na
NP: NP_000016|4557267
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|314|na|1.250570e+02
PRODUCT: adrenergic, beta-3-, receptor
ASSEMBLY: X70811,X72861
CONTIG: NT_078038.1|29795147|na|62702|66370|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_000025|4557266|na
XP: NP_000016|4557267|na
ACCNUM: M29932|178895|na|na|na
TYPE: g
PROT: AAA35550|178896|1
ACCNUM: X70812|312398|na|na|na
TYPE: g
PROT: CAA50142|1666375|1
PROT: CAA50143|1666376|1
ACCNUM: X72861|298094|na|na|na
TYPE: g
PROT: CAA51383|298095|1
ACCNUM: AY487247|40037472|na|na|na
TYPE: m
PROT: AAR37414|40037473|1
ACCNUM: BC075017|50960402|na|na|na
TYPE: m
PROT: AAH75017|50960403|1
ACCNUM: S53291|263088|na|na|na
TYPE: m
PROT: AAB24837|263089|1
ACCNUM: X70811|312396|na|na|na
TYPE: m
PROT: CAA50141|312397|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P13945|461604|0
OFFICIAL_SYMBOL: ADRB3
OFFICIAL_GENE_NAME: adrenergic, beta-3-, receptor
ALIAS_SYMBOL: BETA3AR
PREFERRED_PRODUCT: adrenergic, beta-3-, receptor
SUMMARY: Summary: The ADRB3 gene product, beta-3-adrenergic receptor, is located mainly in adipose tissue and is involved in the regulation of lipolysis and thermogenesis.  Beta adrenergic receptors are involved in the epenephrine and norepinephrine-induced activation of adenylate cyclase through the action of G proteins.
CHR: 8
STS: WI-9207|8|14848|na|seq_map|epcr
STS: D8S2331|8|68951|D8S2331|seq_map|epcr
STS: PMC310777P4|-|272688|na|na|epcr
STS: ADRB3_418|-|276980|na|na|epcr
COMP: 30949|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A155[id]+AND+gene[obj_type]&QSTR=adrb3&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2549
UNIGENE: Hs.2549
OMIM: 109691
MAP: 8p12-p11.2|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109691">OMIM</a>|C|
MAPLINK: default_human_gene|ADRB3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=155
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=155[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:203869
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000025
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000025
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+155
PMID: 15042014,14742851,14671190,14506613,12962933,12739037,12739018,12690078,12670949,12647276,12477932,12370850,12133431,12062855,12037740,11949887,11875710,10786926,8389717,8389293,2570461,1718744,1336117
GO: biological process|G-protein signaling, coupled to cAMP nucleotide second messenger|TAS|GO:0007188|GOA|1718744
GO: molecular function|beta3-adrenergic receptor activity|TAS|GO:0015052|GOA|10786926
GO: biological process|carbohydrate metabolism|TAS|GO:0005975|GOA|2570461
GO: biological process|energy pathways|TAS|GO:0006091|GOA|2570461
GO: biological process|energy reserve metabolism|TAS|GO:0006112|GOA|1718744
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|1718744
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>156
LOCUSID: 156
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001619|6138971|na
NP: NP_001610|4501971
CDD: smart00233: Pleckstrin homology domain|22714|145|na|6.016290e+01
CDD: pfam00615: Regulator of G protein signaling domain|23042|339|na|1.345500e+02
CDD: smart00133: Extension to Ser/Thr-type protein kinases|22688|97|na|4.151240e+01
CDD: KOG0986: G protein-coupled receptor kinase [Signal transduction mechanisms]|18779|2057|na|7.964410e+02
CDD: KOG0598: Ribosomal protein S6 kinase and related proteins [General function prediction only, Signal transduction mechanisms]|18393|720|na|2.814050e+02
PRODUCT: beta adrenergic receptor kinase 1
ASSEMBLY: AH005412,X61157
CONTIG: NT_033903.6|37541191|na|12207129|12227411|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001619|6138971|na
XP: NP_001610|4501971|na
ACCNUM: U08435|531117|na|na|na
TYPE: g
PROT: AAB60689|531122|1
ACCNUM: U08436|531118|na|na|na
TYPE: g
PROT: AAB60689|531122|1
ACCNUM: U08437|531119|na|na|na
TYPE: g
PROT: AAB60689|531122|1
ACCNUM: U08438|531120|na|na|na
TYPE: g
PROT: AAB60689|531122|1
ACCNUM: BC037963|23272738|na|na|na
TYPE: m
PROT: AAH37963|23272739|1
ACCNUM: M80776|179334|na|na|na
TYPE: m
PROT: AAA58391|179335|1
ACCNUM: X61157|288307|na|na|na
TYPE: m
PROT: CAA43470|288308|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P25098|114152|0
OFFICIAL_SYMBOL: ADRBK1
OFFICIAL_GENE_NAME: adrenergic, beta, receptor kinase 1
ALIAS_SYMBOL: GRK2
ALIAS_SYMBOL: BARK1
ALIAS_SYMBOL: BETA-ARK1
PREFERRED_PRODUCT: beta adrenergic receptor kinase 1
SUMMARY: Summary: Beta-adrenergic receptor kinase (ADRBK1) phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. ADRBK1 is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. The ADRBK1 gene spans approximately 23 kb and is composed of 21 exons.  Heart failure is accompanied by severely impaired beta-adrenergic receptor (beta-AR) function. An important mechanism for the rapid desensitization of beta-AR function is agonist-stimulated receptor phosphorylation by the beta-AR kinase (beta-ARK1), an enzyme known to be elevated in failing human heart tissue. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. Inhibition of ADRBK1 is a novel mode of therapy.
CHR: 11
STS: WI-15244|11|64509|na|seq_map|epcr
COMP: 1223|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A156[id]+AND+gene[obj_type]&QSTR=adrbk1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83636
UNIGENE: Hs.83636
OMIM: 109635
ECNUM: 2.7.1.126
MAP: 11q13|HUGO|C|
MAPLINK: default_human_gene|ADRBK1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=156
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=156[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128604
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001619
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001619
DB_DESCR: PharmGKB: PA40
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA40
PMID: 14557268,12750365,12679936,12624098,12552191,12486133,12477932,12456365,12435819,12379128,10091590,9618528,8195124,2037065,1339451
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|G-protein coupled receptor kinase activity|IEA|GO:0004703|GOA|na
GO: molecular function|beta-adrenergic-receptor kinase activity|IEA|GO:0047696|GOA|na
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|1339451
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|signal transducer activity|IEA|GO:0004871|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|1339451
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|1339451
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>157
LOCUSID: 157
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005160|6138972|na
NP: NP_005151|4885055
CDD: smart00233: Pleckstrin homology domain|22714|130|na|5.438490e+01
CDD: pfam00615: Regulator of G protein signaling domain|23042|360|na|1.426390e+02
CDD: KOG0986: G protein-coupled receptor kinase [Signal transduction mechanisms]|18779|2068|na|8.006780e+02
CDD: KOG0598: Ribosomal protein S6 kinase and related proteins [General function prediction only, Signal transduction mechanisms]|18393|706|na|2.760120e+02
PRODUCT: beta adrenergic receptor kinase 2
ASSEMBLY: AL022329,X69117
CONTIG: NT_011520.9|29807292|na|5351515|5510485|+|22|reference
EVID: supported by alignment with mRNA
XM: NM_005160|6138972|na
XP: NP_005151|4885055|na
ACCNUM: AL022329|5002625|na|na|na
TYPE: g
PROT: CAB45657|5139484|1
ACCNUM: AK055687|16550473|na|na|na
TYPE: m
ACCNUM: AK058103|16554138|na|na|na
TYPE: m
ACCNUM: AK123767|34529387|na|na|na
TYPE: m
ACCNUM: AK124922|34530849|na|na|na
TYPE: m
ACCNUM: BC021221|39644531|na|na|na
TYPE: m
ACCNUM: BC036797|22477867|na|na|na
TYPE: m
PROT: AAH36797|22477868|1
ACCNUM: X69117|312394|na|na|na
TYPE: m
PROT: CAA48870|312395|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35626|543848|0
OFFICIAL_SYMBOL: ADRBK2
OFFICIAL_GENE_NAME: adrenergic, beta, receptor kinase 2
ALIAS_SYMBOL: GRK3
ALIAS_SYMBOL: BARK2
PREFERRED_PRODUCT: beta adrenergic receptor kinase 2
SUMMARY: Summary: The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the ADRBK2 enzyme has 85% amino acid similarity with ADRBK1, with the protein kinase catalytic domain having 95% similarity. The ADRBK2 mRNA is approximately 8 kilobases with a distribution similar to that of ADRBK1. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function
CHR: 22
STS: AL022481|-|14049|na|na|epcr
STS: D22S1164|22|18461|D22S1164|seq_map|epcr
STS: D22S419|-|19838|D22S419|na|epcr
STS: D22S687|-|31682|D22S687|na|epcr
STS: D22S421|-|38572|D22S421|na|epcr
STS: SHGC-31725|22|46978|na|seq_map|epcr
STS: D22S258|-|49049|D22S258|na|epcr
STS: D22S419|-|53260|D22S419|na|epcr
STS: A004P15|22|56219|na|seq_map|epcr
STS: STS-T29185|22|67450|na|seq_map|epcr
STS: RH70879|22|70299|na|seq_map|epcr
STS: AL021680|-|71107|na|na|epcr
STS: G31025|-|76037|na|na|epcr
STS: SHGC-30096|-|82635|na|na|epcr
STS: RH1697|22|88761|na|seq_map|epcr
STS: SHGC-2326|-|90163|na|na|epcr
COMP: 21072|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A157[id]+AND+gene[obj_type]&QSTR=adrbk2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=13944
UNIGENE: Hs.13944
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445563
UNIGENE: Hs.445563
OMIM: 109636
ECNUM: 2.7.1.126
MAP: 22q11|HUGO|C|22q12.1|RefSeq|C|
MAPLINK: default_human_gene|ADRBK2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=157
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=157[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:131716
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005160
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005160
PMID: 14702039,12808434,12477932,8427589,7695743,1869533
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|G-protein coupled receptor kinase activity|IEA|GO:0004703|GOA|na
GO: molecular function|beta-adrenergic-receptor kinase activity|IEA|GO:0047696|GOA|na
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|signal transducer activity|IEA|GO:0004871|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|8427589
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>158
LOCUSID: 158
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000026|4557268|na
NP: NP_000017|4557269
CDD: KOG2700: Adenylosuccinate lyase [Nucleotide transport and metabolism]|20486|1685|na|6.531990e+02
PRODUCT: adenylosuccinate lyase
ASSEMBLY: X65867
CONTIG: NT_011520.9|29807292|na|20051617|20071806|+|22|reference
EVID: supported by alignment with mRNA
XM: NM_000026|4557268|na
XP: NP_000017|4557269|na
ACCNUM: AL022238|4176442|na|na|na
TYPE: g
PROT: CAA18265|4176445|1
ACCNUM: AF067853|3211981|na|na|na
TYPE: m
PROT: AAC21560|3211982|1
ACCNUM: AF067854|3211983|na|na|na
TYPE: m
PROT: AAC21561|3211984|1
ACCNUM: BC000253|12652984|na|na|na
TYPE: m
PROT: AAH00253|12652985|1
ACCNUM: BC018881|38114603|na|na|na
TYPE: m
ACCNUM: CR456368|47678266|na|na|na
TYPE: m
PROT: CAG30254|47678267|1
ACCNUM: S60710|300301|na|na|na
TYPE: m
PROT: AAC60603|300302|1
ACCNUM: X65867|28903|na|na|na
TYPE: m
PROT: CAA46696|28904|1
PROT: CAA46697|28905|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P30566|6686318|0
OFFICIAL_SYMBOL: ADSL
OFFICIAL_GENE_NAME: adenylosuccinate lyase
PREFERRED_PRODUCT: adenylosuccinate lyase
SUMMARY: Summary:  Adenylsuccinate lyase  is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate.  It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy.
CHR: 22
STS: RH71398|22|52717|na|na|epcr
COMP: 12|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A158[id]+AND+gene[obj_type]&QSTR=adsl&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenylosuccinase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75527
UNIGENE: Hs.75527
OMIM: 608222
ECNUM: 4.3.2.2
MAP: 22q13.1|HUGO|C|22q13.2|RefSeq|C|
MAPLINK: default_human_gene|ADSL
PHENOTYPE: Adenylosuccinase deficiency
PHENOTYPE_ID: 103050
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=158
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=158[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119655
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119655.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000026
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000026
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=103050
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+158
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+158
PMID: 12833398,12590570,12477932,12016589,10888601,8404037,1302001
GO: molecular function|adenylosuccinate lyase activity|TAS|GO:0004018|GOA|1302001
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: biological process|purine ribonucleotide biosynthesis|IEA|GO:0009152|GOA|na
>>159
LOCUSID: 159
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001126|34577062|na
NP: NP_001117|34577063
CDD: KOG1355: Adenylosuccinate synthase [Nucleotide transport and metabolism]|19144|2061|na|7.980660e+02
PRODUCT: adenylosuccinate synthase
ASSEMBLY: BC012356,BG700800
CONTIG: NT_004836.15|37549514|na|9235160|9278777|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_001126|34577062|na
XP: NP_001117|34577063|na
ACCNUM: X66503|415848|na|na|na
TYPE: g
PROT: CAA47123|415849|1
ACCNUM: AK025514|10438053|na|na|na
TYPE: m
ACCNUM: BC012356|15214462|na|na|na
TYPE: m
PROT: AAH12356|15214463|1
ACCNUM: BG700800|13970503|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P30520|21264498|0
OFFICIAL_SYMBOL: ADSS
OFFICIAL_GENE_NAME: adenylosuccinate synthase
ALIAS_SYMBOL: ADEH
ALIAS_SYMBOL: MGC20404
PREFERRED_PRODUCT: adenylosuccinate synthase
SUMMARY: Summary: Adenylosuccinate synthetase catalyzes the first committed step in the conversion of IMP to AMP
CHR: 1
STS: SHGC-76611|1|17427|na|seq_map|epcr
STS: SHGC-31639|1|22913|na|seq_map|epcr
COMP: 36055|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A159[id]+AND+gene[obj_type]&QSTR=adss&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Adenylosuccinate synthetase (Ade(-)H-complementing)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=90011
UNIGENE: Hs.90011
OMIM: 103060
ECNUM: 6.3.4.4
MAP: 1cen-q12|RefSeq|C|
MAPLINK: default_human_gene|ADSS
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=159
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=159[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119656
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001126
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001126
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+159
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+159
PMID: 12477932,2004783,1592113
GO: biological process|AMP biosynthesis|TAS|GO:0006167|GOA|1592113
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|adenylosuccinate synthase activity|TAS|GO:0004019|GOA|1592113
GO: molecular function|ligase activity|IEA|GO:0016874|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|purine nucleotide biosynthesis|IEA|GO:0006164|GOA|na
>>160
LOCUSID: 160
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_014203|19913413|na
NP: NP_055018|19913414
CDD: KOG1077: Vesicle coat complex AP-2, alpha subunit [Intracellular trafficking, secretion, and vesicular transport]|18868|3576|na|1.381580e+03
PRODUCT: adaptor-related protein complex 2, alpha 1 subunit isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform of this protein.
ASSEMBLY: AF289221
NM: NM_130787|19913415|na
NP: NP_570603|19913416
CDD: KOG1077: Vesicle coat complex AP-2, alpha subunit [Intracellular trafficking, secretion, and vesicular transport]|18868|3620|na|1.398530e+03
PRODUCT: adaptor-related protein complex 2, alpha 1 subunit isoform 2
TRANSVAR: Transcript Variant: This variant (2) lacks a 66 nt internal exon but maintains the reading frame, as compared to variant 1. Isoform 2 lacks 22 internal aa as compared to isoform 1.
ASSEMBLY: AF289221
CONTIG: NT_011109.15|29800594|na|22538370|22578559|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_014203|19913413|na
XP: NP_055018|19913414|na
EVID: supported by alignment with mRNA
XM: NM_130787|19913415|na
XP: NP_570603|19913416|na
ACCNUM: AC006942|4314339|na|na|na
TYPE: g
PROT: AAD15564|4314340|1
ACCNUM: AF289221|15963475|na|na|na
TYPE: g
PROT: AAL11039|15963476|1
PROT: AAL11040|15963477|1
ACCNUM: AK094317|21753352|na|na|na
TYPE: m
PROT: BAC04329|21753353|1
ACCNUM: AL136925|12053344|na|na|na
TYPE: m
PROT: CAB66859|12053345|1
ACCNUM: BC014214|33988814|na|na|na
TYPE: m
PROT: AAH14214|15559717|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O95782|20178274|0
OFFICIAL_SYMBOL: AP2A1
OFFICIAL_GENE_NAME: adaptor-related protein complex 2, alpha 1 subunit
ALIAS_SYMBOL: ADTAA
ALIAS_SYMBOL: CLAPA1
ALIAS_SYMBOL: AP2-ALPHA
PREFERRED_PRODUCT: adaptor-related protein complex 2, alpha 1 subunit isoform 1
PREFERRED_PRODUCT: adaptor-related protein complex 2, alpha 1 subunit isoform 2
SUMMARY: Summary: This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined.
CHR: 19
STS: STS-AA031950|19|31074|na|seq_map|epcr
STS: RH75669|19|91069|na|seq_map|epcr
STS: RH102233|19|96567|na|na|epcr
COMP: 22405|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A160[id]+AND+gene[obj_type]&QSTR=ap2a1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adaptin, alpha A
ALIAS_PROT: 100 kDa coated vesicle protein A
ALIAS_PROT: clathrin-associated/assembly/adaptor protein, large, alpha 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=296426
UNIGENE: Hs.296426
OMIM: 601026
MAP: 19q13.33|RefSeq|C|
MAPLINK: default_human_gene|AP2A1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=160
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=160[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:433859
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014203
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014203
PMID: 14702039,14517991,12477932,12036598,11598180,2564002
GO: cellular component|AP-2 adaptor complex|NAS|GO:0030122|GOA|12036598
GO: cellular component|Golgi apparatus|IEA|GO:0005794|GOA|na
GO: biological process|Golgi to endosome transport|NAS|GO:0006895|GOA|12036598
GO: cellular component|clathrin coat of trans-Golgi network vesicle|NAS|GO:0030130|GOA|12036598
GO: cellular component|coated pit|IEA|GO:0005905|GOA|na
GO: biological process|endocytosis|NAS|GO:0006897|GOA|12036598
GO: biological process|intracellular protein transport|NAS|GO:0006886|GOA|12036598
GO: biological process|protein complex assembly|IEA|GO:0006461|GOA|na
GO: molecular function|structural molecule activity|IEA|GO:0005198|GOA|na
>>161
LOCUSID: 161
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_012305|27477040|na
NP: NP_036437|27477041
CDD: KOG1077: Vesicle coat complex AP-2, alpha subunit [Intracellular trafficking, secretion, and vesicular transport]|18868|3427|na|1.324190e+03
PRODUCT: adaptor-related protein complex 2, alpha 2 subunit
ASSEMBLY: BC006155
CONTIG: NT_035113.5|37541345|na|867772|957071|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_012305|27477040|na
XP: NP_036437|27477041|na
ACCNUM: AB020706|20521685|na|na|na
TYPE: m
PROT: BAA74922|20521686|2
ACCNUM: AF049527|3341987|na|na|na
TYPE: m
PROT: AAC27505|3341988|1
ACCNUM: AK001986|7023595|na|na|na
TYPE: m
ACCNUM: AK027640|14042465|na|na|na
TYPE: m
ACCNUM: AK027891|14042894|na|na|na
TYPE: m
PROT: BAB55435|14042895|1
ACCNUM: AL117614|5912190|na|na|na
TYPE: m
PROT: CAB56015|5912191|1
ACCNUM: BC006155|13544040|na|na|na
TYPE: m
PROT: AAH06155|13544041|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O94973|12643300|0
OFFICIAL_SYMBOL: AP2A2
OFFICIAL_GENE_NAME: adaptor-related protein complex 2, alpha 2 subunit
ALIAS_SYMBOL: HIP9
ALIAS_SYMBOL: HYPJ
ALIAS_SYMBOL: ADTAB
ALIAS_SYMBOL: CLAPA2
ALIAS_SYMBOL: KIAA0899
ALIAS_SYMBOL: DKFZP564D1864
PREFERRED_PRODUCT: adaptor-related protein complex 2, alpha 2 subunit
CHR: 11
STS: RH48949|-|2792|na|na|epcr
STS: STS-W67158|11|80989|na|na|epcr
COMP: 5335|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A161[id]+AND+gene[obj_type]&QSTR=ap2a2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adaptin, alpha B
ALIAS_PROT: alpha-adaptin C; Huntingtin interacting protein J
ALIAS_PROT: clathrin-associated/assembly/adaptor protein, large, alpha 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19121
UNIGENE: Hs.19121
OMIM: 607242
MAP: 11p15.5|RefSeq|C|
MAPLINK: default_human_gene|AP2A2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=161
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=161[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:433860
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012305
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012305
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA0899
PMID: 14702039,14530274,12477932,10048485,9700202,2564002
GO: cellular component|AP-2 adaptor complex|NAS|GO:0030122|GOA|na
GO: cellular component|Golgi apparatus|IEA|GO:0005794|GOA|na
GO: cellular component|clathrin coat of trans-Golgi network vesicle|IEA|GO:0030130|GOA|na
GO: cellular component|coated pit|IEA|GO:0005905|GOA|na
GO: biological process|endocytosis|IEA|GO:0006897|GOA|na
GO: biological process|intracellular protein transport|NAS|GO:0006886|GOA|na
GO: molecular function|lipid binding|IEA|GO:0008289|GOA|na
GO: biological process|protein complex assembly|IEA|GO:0006461|GOA|na
GO: molecular function|structural molecule activity|IEA|GO:0005198|GOA|na
>>162
LOCUSID: 162
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001127|22027650|na
NP: NP_001118|22027651
CDD: KOG1061: Vesicle coat complex AP-1/AP-2/AP-4, beta subunit [Intracellular trafficking, secretion, and vesicular transport]|18854|2222|na|8.599950e+02
PRODUCT: adaptor-related protein complex 1 beta 1 subunit isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
ASSEMBLY: AI084003,BM909530,L13939
NM: NM_145730|22027652|na
NP: NP_663782|22027653
CDD: KOG1061: Vesicle coat complex AP-1/AP-2/AP-4, beta subunit [Intracellular trafficking, secretion, and vesicular transport]|18854|2218|na|8.584540e+02
PRODUCT: adaptor-related protein complex 1 beta 1 subunit isoform b
TRANSVAR: Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
ASSEMBLY: AI084003,BM909530,L13939
CONTIG: NT_011520.9|29807292|na|9114238|9175138|-|22|reference
EVID: supported by alignment with mRNA
XM: NM_001127|22027650|na
XP: NP_001118|22027651|na
EVID: supported by alignment with mRNA
XM: NM_145730|22027652|na
XP: NP_663782|22027653|na
ACCNUM: U36267|14043006|na|na|na
TYPE: g
PROT: AAC50684|14043007|2
ACCNUM: U36268|1532116|na|na|na
TYPE: g
PROT: AAC50684|14043007|2
ACCNUM: AI084003|3422426|na|na|na
TYPE: m
ACCNUM: BC046242|28279433|na|na|na
TYPE: m
PROT: AAH46242|28279434|1
ACCNUM: BM909530|19359909|na|na|na
TYPE: m
ACCNUM: L13939|4079593|na|na|na
TYPE: m
PROT: AAC98702|520828|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q10567|1703167|0
OFFICIAL_SYMBOL: AP1B1
OFFICIAL_GENE_NAME: adaptor-related protein complex 1, beta 1 subunit
ALIAS_SYMBOL: ADTB1
ALIAS_SYMBOL: BAM22
ALIAS_SYMBOL: AP105A
ALIAS_SYMBOL: CLAPB2
PREFERRED_PRODUCT: adaptor-related protein complex 1 beta 1 subunit isoform a
PREFERRED_PRODUCT: adaptor-related protein complex 1 beta 1 subunit isoform b
SUMMARY: Summary: Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Two transcript variants encoding different isoforms have been found for this gene, and variants utilizing alternative polyadenylation signals exist.
CHR: 22
STS: RH17619|22|37177|na|seq_map|epcr
STS: RH27786|22|89636|na|seq_map|epcr
STS: RH122132|-|134884|na|na|epcr
STS: GDB:386099|-|157143|na|na|epcr
COMP: 20306|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A162[id]+AND+gene[obj_type]&QSTR=ap1b1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: beta-adaptin 1
ALIAS_PROT: beta-prime-adaptin
ALIAS_PROT: Golgi adaptor HA1/AP1 adaptin beta subunit
ALIAS_PROT: adaptor protein complex AP-1 beta 1 subunit
ALIAS_PROT: clathrin assembly protein complex 1 beta large chain
ALIAS_PROT: plasma membrane adaptor HA2/AP2 adaptor beta subunit
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=331602
UNIGENE: Hs.331602
OMIM: 600157
MAP: 22q12|HUGO|C|22q12.2|RefSeq|C|
MAPLINK: default_human_gene|AP1B1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=162
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=162[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:386097
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001127
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001127
DB_DESCR: PharmGKB: PA24844
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24844
PMID: 12477932,11912197,8812422,7987321
GO: cellular component|Golgi apparatus|IEA|GO:0005794|GOA|na
GO: cellular component|clathrin coat of trans-Golgi network vesicle|IEA|GO:0030130|GOA|na
GO: cellular component|coated pit|IEA|GO:0005905|GOA|na
GO: biological process|endocytosis|IEA|GO:0006897|GOA|na
GO: biological process|intracellular protein transport|IEA|GO:0006886|GOA|na
GO: biological process|protein complex assembly|IEA|GO:0006461|GOA|na
GO: molecular function|transporter activity|TAS|GO:0005215|GOA|7987321
>>163
LOCUSID: 163
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001282|4557468|na
NP: NP_001273|4557469
CDD: KOG1061: Vesicle coat complex AP-1/AP-2/AP-4, beta subunit [Intracellular trafficking, secretion, and vesicular transport]|18854|2189|na|8.472840e+02
PRODUCT: adaptor-related protein complex 2, beta 1 subunit
ASSEMBLY: M34175
CONTIG: NT_010799.14|37544509|na|8651273|8790408|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_001282|4557468|na
XP: NP_001273|4557469|na
ACCNUM: AY341427|33504651|na|na|na
TYPE: m
PROT: AAQ20044|33504652|1
ACCNUM: BC006201|33873451|na|na|na
TYPE: m
PROT: AAH06201|13623211|1
ACCNUM: BC012150|15082469|na|na|na
TYPE: m
PROT: AAH12150|15082470|1
ACCNUM: M34175|179332|na|na|na
TYPE: m
PROT: AAA35583|179333|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P21851|113342|0
OFFICIAL_SYMBOL: AP2B1
OFFICIAL_GENE_NAME: adaptor-related protein complex 2, beta 1 subunit
ALIAS_SYMBOL: ADTB2
ALIAS_SYMBOL: CLAPB1
ALIAS_SYMBOL: AP2-BETA
PREFERRED_PRODUCT: adaptor-related protein complex 2, beta 1 subunit
SUMMARY: Summary: The beta adaptin subunit is part of the clathrin coat assembly complex which links clathrin to receptors in coated pits and vesicles. These vesicles are involved in endocytosis and Golgi processing. The beta 1 subunit is one of the assembly proteins which binds to clathrin and initiates coat formation.
CHR: 17
STS: RH47464|17|26406|na|seq_map|epcr
STS: SGC44707|17|32295|na|seq_map|epcr
STS: RH12574|17|33291|na|seq_map|epcr
STS: D17S2061|17|72196|D17S2061|seq_map|epcr
STS: CLAPB1|B2|266170|na|na|epcr
ALIAS_PROT: adaptin, beta 2 (beta)
ALIAS_PROT: clathrin-associated/assembly/adaptor protein, large, beta 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370123
UNIGENE: Hs.370123
OMIM: 601025
MAP: 17q11.2-q12|RefSeq|C|
MAPLINK: default_human_gene|AP2B1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=163
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=163[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:433858
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001282
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001282
DB_DESCR: PharmGKB: PA24854
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24854
PMID: 14673213,14530274,12900408,12477932,8595912,8262066,1969413
GO: cellular component|clathrin coat of trans-Golgi network vesicle|IEA|GO:0030130|GOA|na
GO: cellular component|coated pit|IEA|GO:0005905|GOA|na
GO: biological process|intracellular protein transport|IEA|GO:0006886|GOA|na
GO: cellular component|membrane coat adaptor complex|TAS|GO:0030119|GOA|8262066
GO: biological process|protein complex assembly|IEA|GO:0006461|GOA|na
GO: molecular function|transporter activity|TAS|GO:0005215|GOA|1969413
>>164
LOCUSID: 164
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001128|38373686|na
NP: NP_001119|18104998
CDD: KOG1062: Vesicle coat complex AP-1, gamma subunit [Intracellular trafficking, secretion, and vesicular transport]|18855|2567|na|9.929890e+02
PRODUCT: adaptor-related protein complex 1, gamma 1 subunit
ASSEMBLY: AK025020,BC036283,BC051747,BU902252,Y12226
CONTIG: NT_010498.14|37541544|na|20484411|20564474|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_001128|38373686|na
XP: NP_001119|18104998|na
ACCNUM: AJ224112|3413294|na|na|na
TYPE: g
PROT: CAA11832|3413295|1
ACCNUM: AJ224113|3413296|na|na|na
TYPE: g
ACCNUM: AJ224114|3413297|na|na|na
TYPE: g
ACCNUM: AB015317|3641673|na|na|na
TYPE: m
PROT: BAA33389|3641674|1
ACCNUM: AK025020|10437454|na|na|na
TYPE: m
ACCNUM: AK128078|34535272|na|na|na
TYPE: m
ACCNUM: AL110198|5817116|na|na|na
TYPE: m
PROT: CAB53673|5817117|1
ACCNUM: BC003414|13097329|na|na|na
TYPE: m
PROT: AAH03414|13097330|1
ACCNUM: BC036283|23273629|na|na|na
TYPE: m
PROT: AAH36283|23273630|1
ACCNUM: BC051747|30353781|na|na|na
TYPE: m
ACCNUM: BU902252|24084165|na|na|na
TYPE: m
ACCNUM: Y12226|2916770|na|na|na
TYPE: m
PROT: CAA72902|2765190|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O43747|12643391|0
ACCNUM: AK055122|na|na|na|na
TYPE: u
OFFICIAL_SYMBOL: AP1G1
OFFICIAL_GENE_NAME: adaptor-related protein complex 1, gamma 1 subunit
ALIAS_SYMBOL: ADTG
ALIAS_SYMBOL: CLAPG1
ALIAS_SYMBOL: MGC18255
PREFERRED_PRODUCT: adaptor-related protein complex 1, gamma 1 subunit
SUMMARY: Summary: Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family.
CHR: 16
STS: SHGC-61470|16|45544|na|seq_map|epcr
STS: SHGC-60759|16|63399|na|seq_map|epcr
STS: RH48231|-|92986|na|na|epcr
COMP: 20307|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A164[id]+AND+gene[obj_type]&QSTR=ap1g1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: gamma adaptin
ALIAS_PROT: golgi adaptor HA1/AP1 adaptin gamma subunit
ALIAS_PROT: clathrin assembly protein complex 1 gamma large chain
ALIAS_PROT: clathrin-associated/assembly/adaptor protein, large, gamma 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5344
UNIGENE: Hs.5344
OMIM: 603533
MAP: 16q23|RefSeq|C|
MAPLINK: default_human_gene|AP1G1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=164
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=164[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:433861
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001128
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001128
PMID: 14702039,12477932,12042876,11872161,9733768,9653655
GO: cellular component|Golgi apparatus|TAS|GO:0005794|GOA|9653655
GO: cellular component|clathrin coat of trans-Golgi network vesicle|IEA|GO:0030130|GOA|na
GO: cellular component|coated pit|IEA|GO:0005905|GOA|na
GO: biological process|endocytosis|IEA|GO:0006897|GOA|na
GO: biological process|intracellular protein transport|TAS|GO:0006886|GOA|9733768
GO: cellular component|membrane coat adaptor complex|TAS|GO:0030119|GOA|9653655
GO: biological process|protein complex assembly|IEA|GO:0006461|GOA|na
GO: molecular function|transporter activity|TAS|GO:0005215|GOA|9653655,9733768
>>165
LOCUSID: 165
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001129|4755145|na
NP: NP_001120|4755146
CDD: pfam00754: F5/8 type C domain|16815|451|na|1.777790e+02
CDD: KOG2649: Zinc carboxypeptidase [General function prediction only]|20435|1572|na|6.096690e+02
PRODUCT: adipocyte enhancer binding protein 1 precursor
ASSEMBLY: AF053944
CONTIG: NT_007819.14|37538470|na|43436242|43446275|+|7|reference
EVID: supported by alignment with mRNA
XM: NM_001129|4755145|na
XP: NP_001120|4755146|na
CONTIG: NT_079592.1|37538986|na|43515731|43525768|+|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001129|4755145|na
XP: NP_001120|4755146|na
ACCNUM: AF053944|3288915|na|na|na
TYPE: m
PROT: AAC25585|3288916|1
ACCNUM: AK127541|34534498|na|na|na
TYPE: m
PROT: BAC87026|34534499|1
ACCNUM: BC038588|24047246|na|na|na
TYPE: m
PROT: AAH38588|24047247|1
ACCNUM: D86479|1468942|na|na|na
TYPE: m
PROT: BAA13094|1468943|1
OFFICIAL_SYMBOL: AEBP1
OFFICIAL_GENE_NAME: AE binding protein 1
ALIAS_SYMBOL: ACLP
PREFERRED_PRODUCT: adipocyte enhancer binding protein 1 precursor
SUMMARY: Summary: The adipocyte enhancer binding protein 1 is a transcriptional repressor with carboxypeptidase (CP) activity. This protein binds to a regulatory sequence, adipocyte enhancer 1 (AE-1), located in the proximal promoter region of the adipose P2 (aP2) gene, which encodes the adipocyte fatty-acid binding protein. It is characterized as a member of the regulatory B-like CP family. This protein seems to be activated by a novel mechanism, whereby the direct binding of DNA enhances its protease activity. Adipocyte-enhancer binding protein 1 may play a role in differentiated vascular smooth muscle cells.
CHR: 7
STS: A006F20|7|44548|na|seq_map|epcr
COMP: 878|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A165[id]+AND+gene[obj_type]&QSTR=aebp1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: AE-binding protein 1
ALIAS_PROT: aortic carboxypeptidase-like protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439463
UNIGENE: Hs.439463
OMIM: 602981
MAP: 7p13|RefSeq|C|
MAPLINK: default_human_gene|AEBP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=165
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=165[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9835157
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001129
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001129
DB_DESCR: PharmGKB: PA24604
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24604
PMID: 12477932,9624159,8920928
GO: molecular function|carboxypeptidase A activity|IEA|GO:0004182|GOA|na
GO: biological process|cell adhesion|IEA|GO:0007155|GOA|na
GO: cellular component|cytoplasm|NR|GO:0005737|GOA|na
GO: biological process|muscle development|TAS|GO:0007517|GOA|9624159
GO: biological process|proteolysis and peptidolysis|IEA|GO:0006508|GOA|na
GO: biological process|skeletal development|TAS|GO:0001501|GOA|8920928
GO: molecular function|transcription factor activity|TAS|GO:0003700|GOA|8920928
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>166
LOCUSID: 166
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001130|39811997|na
NP: NP_001121|5706731
CDD: pfam03920: Groucho/TLE N-terminal Q-rich domain|17406|503|na|1.979880e+02
CDD: KOG0639: Transducin-like enhancer of split protein (contains WD40 repeats) [Chromatin structure and dynamics]|18433|588|na|2.307290e+02
PRODUCT: amino-terminal enhancer of split isoform b
TRANSVAR: Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus compared to isoform a.
ASSEMBLY: AF269289,AK094591,BM550097,BM908356,N23852
NM: NM_198969|39812018|na
NP: NP_945320|39812019
CDD: pfam03920: Groucho/TLE N-terminal Q-rich domain|17406|502|na|1.976030e+02
CDD: KOG0639: Transducin-like enhancer of split protein (contains WD40 repeats) [Chromatin structure and dynamics]|18433|557|na|2.187870e+02
PRODUCT: amino-terminal enhancer of split isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
ASSEMBLY: AF269289,AK094591,BG913049,N23852
NM: NM_198970|39812026|na
NP: NP_945321|39812027
CDD: pfam03920: Groucho/TLE N-terminal Q-rich domain|17406|503|na|1.979880e+02
CDD: KOG0639: Transducin-like enhancer of split protein (contains WD40 repeats) [Chromatin structure and dynamics]|18433|580|na|2.276470e+02
PRODUCT: amino-terminal enhancer of split isoform c
TRANSVAR: Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (c) is shorter, has a distinct N-terminus, and lacks 1 aa in the C-terminus compared to isoform a.
ASSEMBLY: AF269289,AK094591,BG696926,BM908356,N23852
CONTIG: NT_011255.14|37552371|na|2992908|3002964|-|19|reference
EVID: supported by alignment with mRNA
XM: NM_001130|39811997|na
XP: NP_001121|5706731|na
EVID: supported by alignment with mRNA
XM: NM_198969|39812018|na
XP: NP_945320|39812019|na
EVID: supported by alignment with mRNA
XM: NM_198970|39812026|na
XP: NP_945321|39812027|na
ACCNUM: AC005944|3850561|na|na|na
TYPE: g
PROT: AAC72103|3850562|1
ACCNUM: U88832|4099599|na|na|na
TYPE: g
PROT: AAD00654|4099601|1
ACCNUM: AF072902|3309588|na|na|na
TYPE: m
PROT: AAC35517|3309589|1
ACCNUM: AF269289|10799029|na|na|na
TYPE: m
PROT: AAG23172|10799030|1
ACCNUM: AK094591|21753679|na|na|na
TYPE: m
ACCNUM: AK095154|21754354|na|na|na
TYPE: m
ACCNUM: BG696926|13962585|na|na|na
TYPE: m
ACCNUM: BG913049|14293525|na|na|na
TYPE: m
ACCNUM: BM550097|18786021|na|na|na
TYPE: m
ACCNUM: BM908356|19358735|na|na|na
TYPE: m
ACCNUM: N23852|1138002|na|na|na
TYPE: m
ACCNUM: U04241|452447|na|na|na
TYPE: m
PROT: AAA16223|435425|1
ACCNUM: X73357|313218|na|na|na
TYPE: m
ACCNUM: X73358|313216|na|na|na
TYPE: m
PROT: CAA51768|313217|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q08117|23503062|0
OFFICIAL_SYMBOL: AES
OFFICIAL_GENE_NAME: amino-terminal enhancer of split
ALIAS_SYMBOL: GRG
ALIAS_SYMBOL: ESP1
ALIAS_SYMBOL: AES-1
ALIAS_SYMBOL: AES-2
PREFERRED_PRODUCT: amino-terminal enhancer of split isoform a
PREFERRED_PRODUCT: amino-terminal enhancer of split isoform b
PREFERRED_PRODUCT: amino-terminal enhancer of split isoform c
SUMMARY: Summary: The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene.
CHR: 19
STS: RH69316|19|13649|na|seq_map|epcr
COMP: 879|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A166[id]+AND+gene[obj_type]&QSTR=aes&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446610
UNIGENE: Hs.446610
OMIM: 600188
MAP: 19p13.3|RefSeq|C|
MAPLINK: default_human_gene|AES
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=166
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=166[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:249182
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198969
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198969
DB_DESCR: PharmGKB: PA24606
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24606
PMID: 15006356,14702039,12030375,11416139,10748198,10660609,10395201,9809752,8889549,8365415
GO: biological process|Wnt receptor signaling pathway|IEA|GO:0016055|GOA|na
GO: biological process|development|TAS|GO:0007275|GOA|8365415
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|organogenesis|TAS|GO:0009887|GOA|9809752
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
>>167
LOCUSID: 167
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001131|25121981|na
NP: NP_001122|25121982
CDD: cd00168: SCP / Tpx-1 / Ag5 / PR-1 / Sc7 family of extracellular domains|5279|345|na|1.370290e+02
PRODUCT: acidic epididymal glycoprotein-like 1 isoform 1 precursor
TRANSVAR: Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein isoform (1).
ASSEMBLY: S80310,X95237
NM: NM_170609|25121983|na
NP: NP_733758|25121984
CDD: cd00168: SCP / Tpx-1 / Ag5 / PR-1 / Sc7 family of extracellular domains|5279|334|na|1.327910e+02
PRODUCT: acidic epididymal glycoprotein-like 1 isoform 2 precursor
TRANSVAR: Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
ASSEMBLY: S80310,X95238
CONTIG: NT_007592.13|29804415|na|40599078|40631326|-|6|reference
EVID: supported by alignment with mRNA
XM: NM_001131|25121981|na
XP: NP_001122|25121982|na
EVID: supported by alignment with mRNA
XM: NM_170609|25121983|na
XP: NP_733758|25121984|na
ACCNUM: AL359458|11121057|na|na|na
TYPE: g
PROT: CAC34980|13445398|1
PROT: CAC34981|13445399|1
ACCNUM: BC028577|20306242|na|na|na
TYPE: m
ACCNUM: D38451|1321633|na|na|na
TYPE: m
PROT: BAA07483|1321634|1
ACCNUM: S80310|1246084|na|na|na
TYPE: m
PROT: AAB35899|1246085|1
ACCNUM: X95237|1262814|na|na|na
TYPE: m
PROT: CAA64524|1262815|1
ACCNUM: X95238|1262812|na|na|na
TYPE: m
PROT: CAA64525|1262813|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P54107|1706134|0
OFFICIAL_SYMBOL: CRISP1
OFFICIAL_GENE_NAME: cysteine-rich secretory protein 1
ALIAS_SYMBOL: ARP
ALIAS_SYMBOL: AEGL1
ALIAS_SYMBOL: HUMARP
ALIAS_SYMBOL: CRISP-1
ALIAS_SYMBOL: HSCRISP1D
ALIAS_SYMBOL: HSCRISP1G
PREFERRED_PRODUCT: acidic epididymal glycoprotein-like 1 isoform 1 precursor
PREFERRED_PRODUCT: acidic epididymal glycoprotein-like 1 isoform 2 precursor
SUMMARY: Summary: Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. This protein is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head where it plays a role at fertilization in sperm-egg fusion through complementary sites localized on the egg surface. Two isoforms are encoded by transcript variants of this gene.
CHR: 6
STS: STS-X95237|6|36213|na|seq_map|epcr
STS: RH80559|6|90398|na|seq_map|epcr
ALIAS_PROT: protein DE-like
ALIAS_PROT: AEG-related protein
ALIAS_PROT: acidic epididymal glycoprotein-like 1
ALIAS_PROT: cysteine-rich secretory protein-1 delta
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=109620
UNIGENE: Hs.109620
OMIM: 601193
MAP: 6p21.3|RefSeq|C|
MAPLINK: default_human_gene|CRISP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=167
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=167[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:642057
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001131
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001131
PMID: 12477932,12206465,11750738,11566719,9685187,8838800,8665901,8543280
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|8543280
GO: biological process|fusion of sperm to egg plasma membrane|TAS|GO:0007342|GOA|8838800
GO: biological process|spermatogenesis|NR|GO:0007283|GOA|na
>>168
LOCUSID: 168
CURRENT_LOCUSID: 55630
ORGANISM: Homo sapiens
>>169
LOCUSID: 169
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AF8T
OFFICIAL_GENE_NAME: AF8 temperature sensitivity complementing
CHR: 3
ALIAS_PROT: tsAF8 complementing
ALIAS_PROT: cell cycle controller G1
OMIM: 116950
MAP: 3|RefSeq|C|
MAPLINK: default_human_cyto|AF8T
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118980
PMID: 180537
>>170
LOCUSID: 170
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AFA
OFFICIAL_GENE_NAME: ankyloblepharon filiforme adnatum
OMIM: 106250
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:265277
PMID: 218608
>>171
LOCUSID: 171
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AFD1
OFFICIAL_GENE_NAME: acrofacial dysostosis 1, Nager type
ALIAS_SYMBOL: AFDN
CHR: 9
OMIM: 154400
MAP: 9q32|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154400">OMIM</a>|C|
MAPLINK: default_human_cyto|AFD1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:265292
>>172
LOCUSID: 172
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001132|27477067|na
NP: NP_001123|27477068
CDD: COG1222: ATP-dependent 26S proteasome regulatory subunit [Posttranslational modification, protein turnover, chaperones]|10940|166|na|6.794320e+01
CDD: KOG0731: AAA+-type ATPase containing the peptidase M41 domain [Posttranslational modification, protein turnover, chaperones]|18525|219|na|8.857940e+01
PRODUCT: AFG3 ATPase family gene 3-like 1
ASSEMBLY: AK097044
CONTIG: NT_010542.14|37541576|na|1594855|1618885|+|16|reference
EVID: supported by alignment with mRNA
XM: NM_001132|27477067|na
XP: NP_001123|27477068|na
ACCNUM: AJ001496|2959329|na|na|na
TYPE: g
PROT: CAA04793|2959330|1
ACCNUM: AF329691|14486668|na|na|na
TYPE: m
ACCNUM: AF329692|14486669|na|na|na
TYPE: m
ACCNUM: AF329693|14486670|na|na|na
TYPE: m
ACCNUM: AF329694|14486671|na|na|na
TYPE: m
ACCNUM: AJ001495|2956663|na|na|na
TYPE: m
PROT: CAA04792|2956664|1
ACCNUM: AK056488|16551904|na|na|na
TYPE: m
ACCNUM: AK091293|21749628|na|na|na
TYPE: m
ACCNUM: AK097044|21756683|na|na|na
TYPE: m
PROT: BAC04933|21756684|1
ACCNUM: AK126911|34533589|na|na|na
TYPE: m
ACCNUM: AK128352|34535678|na|na|na
TYPE: m
ACCNUM: AK128804|34536349|na|na|na
TYPE: m
ACCNUM: AL832984|21733572|na|na|na
TYPE: m
ACCNUM: BC021245|33879123|na|na|na
TYPE: m
PROT: AAH21245|33879124|2
ACCNUM: BC045753|28374157|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O43931|5902746|0
OFFICIAL_SYMBOL: AFG3L1
OFFICIAL_GENE_NAME: AFG3 ATPase family gene 3-like 1 (yeast)
ALIAS_SYMBOL: AFG3
PREFERRED_PRODUCT: AFG3 ATPase family gene 3-like 1
CHR: 16
ALIAS_PROT: ATPase family gene 3, yeast, homolog of
ALIAS_PROT: AFG3 (ATPase family gene 3, yeast)-like 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=337620
UNIGENE: Hs.337620
OMIM: 603020
MAP: 16q24|RefSeq|C|
MAPLINK: default_human_gene|AFG3L1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=172
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6045053
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001132
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001132
PMID: 14702039,12477932,11549317,9545647
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|ATPase activity|NAS|GO:0016887|GOA|na
GO: biological process|biological_process unknown|ND|GO:0000004|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|metallopeptidase activity|IEA|GO:0008237|GOA|na
GO: molecular function|metallopeptidase activity|NAS|GO:0008237|GOA|na
GO: cellular component|mitochondrion|NAS|GO:0005739|GOA|9545647
>>173
LOCUSID: 173
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001133|27754774|na
NP: NP_001124|4501987
CDD: cd00015: Albumin domain, contains five or six internal disulphide bonds|14759|445|na|1.754860e+02
PRODUCT: afamin precursor
ASSEMBLY: U51243
CONTIG: NT_006216.14|29791409|na|2854472|2876728|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_001133|27754774|na
XP: NP_001124|4501987|na
ACCNUM: U51243|1418261|na|na|na
TYPE: g
PROT: AAC50720|1418262|1
ACCNUM: L35486|530130|na|na|na
TYPE: m
PROT: AAA68197|857675|1
ACCNUM: L35497|530131|na|na|na
TYPE: m
PROT: AAA68198|857676|1
ACCNUM: L35498|530132|na|na|na
TYPE: m
PROT: AAA68199|857674|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P43652|1168366|0
OFFICIAL_SYMBOL: AFM
OFFICIAL_GENE_NAME: afamin
ALIAS_SYMBOL: ALF
ALIAS_SYMBOL: ALB2
ALIAS_SYMBOL: ALBA
PREFERRED_PRODUCT: afamin precursor
SUMMARY: Summary: This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream.
CHR: 4
STS: STS-L32140|4|41974|na|seq_map|epcr
STS: PMC310762P7|-|272675|na|na|epcr
COMP: 881|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A173[id]+AND+gene[obj_type]&QSTR=afm&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: alpha-albumin
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=168718
UNIGENE: Hs.168718
OMIM: 104145
MAP: 4q11-q13|RefSeq|C|
MAPLINK: default_human_gene|AFM
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=173
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=173[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:376475
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001133
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001133
PMID: 12463752,12063119,8755513,8648639,7875606,7517938
GO: molecular function|carrier activity|IEA|GO:0005386|GOA|na
GO: cellular component|extracellular space|IEA|GO:0005615|GOA|na
GO: biological process|transport|IEA|GO:0006810|GOA|na
>>174
LOCUSID: 174
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001134|4501988|na
NP: NP_001125|4501989
CDD: smart00103: serum albumin|22681|459|na|1.808950e+02
PRODUCT: alpha-fetoprotein precursor
ASSEMBLY: V01514
CONTIG: NT_006216.14|29791409|na|2808943|2828502|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_001134|4501988|na
XP: NP_001125|4501989|na
ACCNUM: M10949|178237|na|na|na
TYPE: g
PROT: AAA51674|553172|1
ACCNUM: M10950|178238|na|na|na
TYPE: g
PROT: AAA51675|178241|1
ACCNUM: M16110|773678|na|na|na
TYPE: g
PROT: AAB58754|178236|1
ACCNUM: Z19532|28527|na|na|na
TYPE: g
PROT: CAA79592|28528|1
ACCNUM: BC027881|20379786|na|na|na
TYPE: m
PROT: AAH27881|20379787|1
ACCNUM: V01514|311348|na|na|na
TYPE: m
PROT: CAA24758|31351|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02771|120042|0
OFFICIAL_SYMBOL: AFP
OFFICIAL_GENE_NAME: alpha-fetoprotein
ALIAS_SYMBOL: FETA
ALIAS_SYMBOL: HPAFP
PREFERRED_PRODUCT: alpha-fetoprotein precursor
SUMMARY: Summary: This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly.
CHR: 4
STS: D4S3144|4|11591|D4S3144|seq_map|epcr
STS: SHGC-50928|-|31278|na|na|epcr
COMP: 882|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A174[id]+AND+gene[obj_type]&QSTR=afp&cmd=focus&fill=10|Mouse
ALIAS_PROT: alpha-fetoglobulin
ALIAS_PROT: alpha-1-fetoprotein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155421
UNIGENE: Hs.155421
OMIM: 104150
MAP: 4q11-q13|HUGO|C|
MAPLINK: default_human_gene|AFP
PHENOTYPE: AFP deficiency, congenital
PHENOTYPE_ID: 104150
PHENOTYPE: Hereditary persistence of alpha-fetoprotein
PHENOTYPE_ID: 104150
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=174
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=174[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119660
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119660.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001134
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001134
PMID: 15040024,15001643,14622304,12615827,12503217,12499776,12477932,12361680,12176010,12167706,12006569,11861398,11788893,11764100,9891062,6192711,6192439,6187626,6085063,2580830,2474300,2445387,2436661,1379776
GO: molecular function|carrier activity|IEA|GO:0005386|GOA|na
GO: cellular component|extracellular space|IEA|GO:0005615|GOA|na
GO: biological process|immune response|NR|GO:0006955|GOA|na
GO: molecular function|nickel ion binding|IEA|GO:0016151|GOA|na
GO: biological process|transport|IEA|GO:0006810|GOA|na
>>175
LOCUSID: 175
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000027|32313568|na
NP: NP_000018|4557273
CDD: KOG1593: Asparaginase [Amino acid transport and metabolism]|19381|1409|na|5.469380e+02
PRODUCT: aspartylglucosaminidase precursor
ASSEMBLY: X55330
CONTIG: NT_022792.16|37540430|na|10763445|10775112|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_000027|32313568|na
XP: NP_000018|4557273|na
ACCNUM: U21273|732498|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: U21274|732499|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: U21275|732500|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: U21276|732501|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: U21277|732502|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: U21278|732503|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: U21279|732504|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: U21280|732505|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: U21281|732506|na|na|na
TYPE: g
PROT: AAB60655|732508|1
ACCNUM: X61959|287792|na|na|na
TYPE: g
PROT: CAA43958|287793|1
ACCNUM: BC012392|15214538|na|na|na
TYPE: m
PROT: AAH12392|15214539|1
ACCNUM: M60808|183308|na|na|na
TYPE: m
PROT: AAA35901|183309|1
ACCNUM: M60809|183310|na|na|na
TYPE: m
PROT: AAA35902|183311|1
ACCNUM: M64073|183329|na|na|na
TYPE: m
PROT: AAA35903|183330|1
ACCNUM: M64075|183331|na|na|na
TYPE: m
PROT: AAA35904|553306|1
ACCNUM: M64076|183333|na|na|na
TYPE: m
PROT: AAA35905|183334|1
ACCNUM: X55762|34759|na|na|na
TYPE: m
PROT: CAA39288|34760|1
ACCNUM: X73071|312227|na|na|na
TYPE: m
PROT: CAA51529|312228|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P20933|114276|0
OFFICIAL_SYMBOL: AGA
OFFICIAL_GENE_NAME: aspartylglucosaminidase
ALIAS_SYMBOL: AGU
PREFERRED_PRODUCT: aspartylglucosaminidase precursor
SUMMARY: Summary:  Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins.  The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme.
CHR: 4
STS: STS-X55330|4|28451|na|seq_map|epcr
COMP: 13|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A175[id]+AND+gene[obj_type]&QSTR=aga&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: glycosylasparaginase
ALIAS_PROT: aspartylglycosaminuria
ALIAS_PROT: aspartylglucosylamine deaspartylase
ALIAS_PROT: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
ALIAS_PROT: N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=207776
UNIGENE: Hs.207776
OMIM: 208400
ECNUM: 3.5.1.26
MAP: 4q32-q33|RefSeq|C|
MAPLINK: default_human_gene|AGA
PHENOTYPE: Aspartylglucosaminuria
PHENOTYPE_ID: 208400
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=175
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=175[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118981
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118981.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000027
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000027
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=208400
DB_DESCR: KEGG pathway: N-Glycan degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00511+175
PMID: 14616088,12477932,8457202,8405810,8002961,2775174,2401370,2011603,1904874,1840528,1733831,1703489
GO: molecular function|N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity|TAS|GO:0003948|GOA|1703489
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|lysosome|NAS|GO:0005764|GOA|2401370
GO: biological process|protein deglycosylation|TAS|GO:0006517|GOA|2775174
>>176
LOCUSID: 176
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001135|4501990|na
NP: NP_001126|4501991
CDD: smart00406: Immunoglobulin V-Type|3897|111|na|4.692600e+01
CDD: pfam00193: Extracellular link domain|760|384|na|1.519630e+02
CDD: cd00037: C-type lectin (CTL) and CTL-like domains|16518|340|na|1.353380e+02
PRODUCT: aggrecan 1 isoform 1 precursor
TRANSVAR: Transcript Variant: Transcript variant 1, the shortest and most predominant transcript, lacks the EGF-like and CRP-like domains found in the transcript variant 2.
ASSEMBLY: M55172
NM: NM_013227|6995993|na
NP: NP_037359|6995994
CDD: smart00406: Immunoglobulin V-Type|3897|111|na|4.692600e+01
CDD: pfam00193: Extracellular link domain|760|381|na|1.508070e+02
CDD: pfam00084: Sushi domain (SCR repeat)|22898|137|na|5.702950e+01
CDD: cd00037: C-type lectin (CTL) and CTL-like domains|16518|337|na|1.341830e+02
CDD: KOG4289: Cadherin EGF LAG seven-pass G-type receptor [Signal transduction mechanisms]|22065|114|na|4.809080e+01
CDD: cd00054: Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins|14791|106|na|4.487460e+01
PRODUCT: aggrecan 1 isoform 2 precursor
TRANSVAR: Transcript Variant: Transcript variant 2 contains an EGF-like and a CRP-like domain in the C-terminal region of the aggrecan 1 gene.
ASSEMBLY: J05062,M55172
CONTIG: NT_010274.15|29802090|na|4312517|4383358|+|15|reference
EVID: supported by alignment with mRNA
XM: NM_001135|4501990|na
XP: NP_001126|4501991|na
EVID: supported by alignment with mRNA
XM: NM_013227|6995993|na
XP: NP_037359|6995994|na
ACCNUM: L29488|1850910|na|na|na
TYPE: g
PROT: AAB48068|1850911|1
ACCNUM: S74659|807127|na|na|na
TYPE: g
PROT: AAC60643|13366257|2
ACCNUM: J05062|181167|na|na|na
TYPE: m
PROT: AAA35726|181168|1
ACCNUM: M55172|178258|na|na|na
TYPE: m
PROT: AAA62824|178259|1
ACCNUM: U13192|532326|na|na|na
TYPE: m
ACCNUM: X17406|30248|na|na|na
TYPE: m
PROT: CAA35463|30249|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P16112|129886|0
OFFICIAL_SYMBOL: AGC1
OFFICIAL_GENE_NAME: aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122)
ALIAS_SYMBOL: CSPG1
ALIAS_SYMBOL: MSK16
ALIAS_SYMBOL: CSPGCP
PREFERRED_PRODUCT: aggrecan 1 isoform 1 precursor
PREFERRED_PRODUCT: aggrecan 1 isoform 2 precursor
SUMMARY: Summary: Aggrecan 1 is a member of the aggrecan/versican proteoglycan family.  As an integral part of the extracellular matrix in cartilagenous tissue, the function of aggrecan 1 is to withstand compression in cartilage.  Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration.  Alternative splicing of two domains has been observed in the aggrecan 1 gene; however, it is unknown whether other transcripts exist or what effects they have on gene function.
CHR: 15
STS: RH17913|15|38235|na|seq_map|epcr
STS: SGC30467|-|40739|na|na|epcr
COMP: 7227|15|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=15&MAPS=genes-r-org/rat-chr/human%3A15,genes-r-org/mouse-chr/human%3A15,genes-r-org/human-chr15&query=e%3A176[id]+AND+gene[obj_type]&QSTR=agc1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: chondroitin sulfate proteoglycan 1, large aggregating proteoglycan
ALIAS_PROT: Aggrecan-1 (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2159
UNIGENE: Hs.2159
OMIM: 155760
MAP: 15q26.1|RefSeq|C|
MAPLINK: default_human_gene|AGC1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=176
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=176[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127479
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013227
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013227
PMID: 14724283,14722076,14627072,14558103,12054629,11932252,11898616,8921002,8611178,8314595,7827755,7626017,2789216,1985970
GO: biological process|cell adhesion|IEA|GO:0007155|GOA|na
GO: cellular component|extracellular matrix|NR|GO:0005578|GOA|na
GO: biological process|heterophilic cell adhesion|IEA|GO:0007157|GOA|na
GO: molecular function|hyaluronic acid binding|IEA|GO:0005540|GOA|na
GO: molecular function|sugar binding|IEA|GO:0005529|GOA|na
>>177
LOCUSID: 177
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001136|26787960|na
NP: NP_001127|10835203
CDD: smart00409: Immunoglobulin|22788|117|na|4.935880e+01
CDD: KOG3513: Neural cell adhesion molecule L1 [Signal transduction mechanisms]|21297|136|na|5.650660e+01
PRODUCT: advanced glycosylation end product-specific receptor isoform 1 precursor
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform (1) of this protein. Isoform 1 is thought to be a type I membrane protein.
ASSEMBLY: AB036432,AJ133822,BC020669
NM: NM_172197|26787961|na
NP: NP_751947|26787962
CDD: smart00409: Immunoglobulin|22788|121|na|5.089960e+01
CDD: KOG3513: Neural cell adhesion molecule L1 [Signal transduction mechanisms]|21297|148|na|6.112900e+01
PRODUCT: advanced glycosylation end product-specific receptor isoform 2 precursor
TRANSVAR: Transcript Variant: This variant (2) has multiple differences in the coding region resulting in a frameshift, compared to variant 1. Isoform 2 is shorter and has a distinct C-terminus compared to isoform 1. Isoform 2 lacks a membrane-spanning region and so is thought to be secreted.
ASSEMBLY: AB036432,AJ133822
CONTIG: NT_007592.13|29804415|na|22970460|22973737|-|6|reference
EVID: supported by alignment with mRNA
XM: NM_001136|26787960|na
XP: NP_001127|10835203|na
EVID: supported by alignment with mRNA
XM: NM_172197|26787961|na
XP: NP_751947|26787962|na
ACCNUM: AF001095|3093415|na|na|na
TYPE: g
ACCNUM: AF208289|11493977|na|na|na
TYPE: g
PROT: AAG35728|11493978|1
ACCNUM: AJ238896|4867820|na|na|na
TYPE: g
PROT: CAB43094|4867821|1
ACCNUM: D28769|561657|na|na|na
TYPE: g
PROT: BAA05958|561659|1
ACCNUM: U89336|1841547|na|na|na
TYPE: g
PROT: AAB47491|1841550|1
ACCNUM: AB036432|6691625|na|na|na
TYPE: m
PROT: BAA89369|6691626|1
ACCNUM: AB061668|28971759|na|na|na
TYPE: m
PROT: BAC65465|28971760|1
ACCNUM: AB061669|28971761|na|na|na
TYPE: m
PROT: BAC65466|28971762|1
ACCNUM: AJ133822|4877290|na|na|na
TYPE: m
PROT: CAB43108|4877291|1
ACCNUM: BC020669|18088362|na|na|na
TYPE: m
PROT: AAH20669|18088363|1
ACCNUM: M91211|190845|na|na|na
TYPE: m
PROT: AAA03574|190846|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q15109|2497317|0
OFFICIAL_SYMBOL: AGER
OFFICIAL_GENE_NAME: advanced glycosylation end product-specific receptor
ALIAS_SYMBOL: RAGE
ALIAS_SYMBOL: MGC22357
PREFERRED_PRODUCT: advanced glycosylation end product-specific receptor isoform 1 precursor
PREFERRED_PRODUCT: advanced glycosylation end product-specific receptor isoform 2 precursor
SUMMARY: Summary: This gene encodes a member of the immunoglobulin superfamily of cell surface molecules. It is a receptor for various molecules, including the amyloidogenic form of serum amyloid A, amyloid-beta protein, members of the S100/calgranulin superfamily and advanced glycation end products. The gene lies within the major histocompatibility complex (MHC) class III region on chromosome 6. Alternative splicing results in two transcript variants encoding different isoforms.
CHR: 6
STS: STS-D60277|-|54384|na|na|epcr
STS: RH40485|-|85336|na|na|epcr
STS: RH65115|-|85939|na|na|epcr
STS: RH67947|-|87104|na|na|epcr
STS: RH80855|-|89132|na|na|epcr
COMP: 883|6|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=6&MAPS=genes-r-org/rat-chr/human%3A6,genes-r-org/mouse-chr/human%3A6,genes-r-org/human-chr6&query=e%3A177[id]+AND+gene[obj_type]&QSTR=ager&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184
UNIGENE: Hs.184
OMIM: 600214
MAP: 6p21.3|HUGO|C|
MAPLINK: default_human_gene|AGER
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=177
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=177[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:306354
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001136
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001136
PMID: 15170618,15053925,15033494,15009731,14704946,14580673,12941744,12935895,12859967,12837757,12651613,12618340,12606536,12598893,12579287,12495433,12477932,12477623,12070776,12029499,11884895,11811511,11739380,11700025,10835680,10521570,10399917,8751438,7835890,1378843
GO: biological process|cell surface receptor linked signal transduction|TAS|GO:0007166|GOA|10835680
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|10399917
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|1378843
GO: molecular function|transmembrane receptor activity|TAS|GO:0004888|GOA|1378843
>>178
LOCUSID: 178
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000028|4557274|na
NP: NP_000019|4557275
CDD: COG0366: Glycosidases [Carbohydrate transport and metabolism]|10240|108|na|4.610920e+01
CDD: KOG3625: Alpha amylase [Carbohydrate transport and metabolism]|21406|6635|na|2.559950e+03
PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 1
TRANSVAR: Transcript Variant: This is splice variant 4.
ASSEMBLY: U84010
NM: NM_000642|4557276|na
NP: NP_000633|4557277
CDD: COG0366: Glycosidases [Carbohydrate transport and metabolism]|10240|108|na|4.610920e+01
CDD: KOG3625: Alpha amylase [Carbohydrate transport and metabolism]|21406|6635|na|2.559950e+03
PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase 4-alphisoform 1
TRANSVAR: Transcript Variant: This is splice variant 1.
ASSEMBLY: U84007
NM: NM_000643|4557278|na
NP: NP_000634|4557279
CDD: COG0366: Glycosidases [Carbohydrate transport and metabolism]|10240|108|na|4.610920e+01
CDD: KOG3625: Alpha amylase [Carbohydrate transport and metabolism]|21406|6635|na|2.559950e+03
PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 1
TRANSVAR: Transcript Variant: This is splice variant 3.
ASSEMBLY: U84009
NM: NM_000644|4557280|na
NP: NP_000635|4557281
CDD: COG0366: Glycosidases [Carbohydrate transport and metabolism]|10240|108|na|4.610920e+01
CDD: KOG3625: Alpha amylase [Carbohydrate transport and metabolism]|21406|6635|na|2.559950e+03
PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 1
TRANSVAR: Transcript Variant: This is splice variant 2.
ASSEMBLY: U84008
NM: NM_000645|4557282|na
NP: NP_000636|4557283
CDD: COG0366: Glycosidases [Carbohydrate transport and metabolism]|10240|108|na|4.610920e+01
CDD: KOG3625: Alpha amylase [Carbohydrate transport and metabolism]|21406|6535|na|2.521430e+03
PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 2
TRANSVAR: Transcript Variant: This is splice variant 5.
ASSEMBLY: M85168
NM: NM_000646|4557284|na
NP: NP_000637|4557285
CDD: COG0366: Glycosidases [Carbohydrate transport and metabolism]|10240|108|na|4.610920e+01
CDD: KOG3625: Alpha amylase [Carbohydrate transport and metabolism]|21406|6534|na|2.521040e+03
PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 3
TRANSVAR: Transcript Variant: This is splice variant 6.
ASSEMBLY: U84011
CONTIG: NT_028050.13|37546771|na|8504584|8578520|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_000028|4557274|na
XP: NP_000019|4557275|na
EVID: supported by alignment with mRNA
XM: NM_000642|4557276|na
XP: NP_000633|4557277|na
EVID: supported by alignment with mRNA
XM: NM_000643|4557278|na
XP: NP_000634|4557279|na
EVID: supported by alignment with mRNA
XM: NM_000644|4557280|na
XP: NP_000635|4557281|na
EVID: supported by alignment with mRNA
XM: NM_000645|4557282|na
XP: NP_000636|4557283|na
EVID: supported by alignment with mRNA
XM: NM_000646|4557284|na
XP: NP_000637|4557285|na
ACCNUM: BC078663|50927459|na|na|na
TYPE: m
PROT: AAH78663|50927460|1
ACCNUM: M85168|1785860|na|na|na
TYPE: m
PROT: AAB41040|187577|1
ACCNUM: U84007|1857619|na|na|na
TYPE: m
PROT: AAB48466|1857620|1
ACCNUM: U84008|1857621|na|na|na
TYPE: m
PROT: AAB48467|1857622|1
ACCNUM: U84009|1857623|na|na|na
TYPE: m
PROT: AAB48468|1857624|1
ACCNUM: U84010|1857625|na|na|na
TYPE: m
PROT: AAB48469|1857626|1
ACCNUM: U84011|1857627|na|na|na
TYPE: m
PROT: AAB48470|1857628|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35573|8928542|0
OFFICIAL_SYMBOL: AGL
OFFICIAL_GENE_NAME: amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)
ALIAS_SYMBOL: GDE
PREFERRED_PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase 4-alphisoform 1
PREFERRED_PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 1
PREFERRED_PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 2
PREFERRED_PRODUCT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 3
SUMMARY: Summary:  Glycogen debranching enzyme is involved in glycogen degradation and has two independent catalytic activities: a 4-alpha-glucotransferase activity (EC 2.4.1.25) and a amylo-1,6-glucosidase activity (EC 3.4.1.33).  Both activities occur at different sites on the single polypeptide chain. Mutations in this gene cause glycogen storage disease.  A wide range of clinical and enzymatic variability occurs in glycogen debrancher deficiency, some of which may be due to tissue-specific alternative splicing.  Six splice varients that differ in the 5' end  have been identified in liver and muscle tissue.  Variants 1, 5, and 6 are present in both liver and muscle, whereas variants 2, 3, and 4 occur in muscle.  Variants 1 through 4 encode identical proteins (isoform 1) that include 27 N-terminal amino acids not found in splice variants 5 and 6.  Variants 5 and 6 encode different amino-terminal ends of 10 and 11 amino acids in protein isoforms 2 and 3, respectively, with the remainder of the peptide identical to that of isoforms 1.
CHR: 1
STS: RH11727|1|2096|na|na|epcr
STS: D1S2186|1|69292|D1S2186|seq_map|epcr
STS: D1S3207|1|71269|D1S3207|seq_map|epcr
STS: WI-17303|1|76286|na|seq_map|epcr
COMP: 536|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/human-chr1&query=e%3A178[id]+AND+gene[obj_type]&QSTR=agl&cmd=focus&fill=10|Rat
ALIAS_PROT: glycogen debranching enzyme
ALIAS_PROT: Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme)
ALIAS_PROT: amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=904
UNIGENE: Hs.904
OMIM: 232400
ECNUM: 2.4.1.25
ECNUM: 3.2.1.33
MAP: 1p21|HUGO|C|
MAPLINK: default_human_gene|AGL
PHENOTYPE: Glycogen storage disease IIIa
PHENOTYPE_ID: 232400
PHENOTYPE: Glycogen storage disease IIIb
PHENOTYPE_ID: 232400
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=178
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=178[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132644
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000028
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000028
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=232400
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+178
PMID: 12477932,11924557,9332391,8954797,1505983,1374391
GO: molecular function|4-alpha-glucanotransferase activity|IEA|GO:0004134|GOA|na
GO: molecular function|amylo-alpha-1,6-glucosidase activity|IEA|GO:0004135|GOA|na
GO: biological process|carbohydrate metabolism|IEA|GO:0005975|GOA|na
GO: biological process|glycogen biosynthesis|IEA|GO:0005978|GOA|na
GO: molecular function|hydrolase activity, acting on glycosyl bonds|IEA|GO:0016798|GOA|na
GO: cellular component|isoamylase complex|TAS|GO:0043033|GOA|1374391
GO: molecular function|transferase activity, transferring glycosyl groups|IEA|GO:0016757|GOA|na
>>179
LOCUSID: 179
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AGMX2
OFFICIAL_GENE_NAME: agammaglobulinemia, X-linked 2 (with growth hormone deficiency)
ALIAS_SYMBOL: IMD6
ALIAS_SYMBOL: XLA2
CHR: X
OMIM: 300310
MAP: Xp22|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300310">OMIM</a>|C|
MAPLINK: default_human_cyto|AGMX2
PHENOTYPE: Agammaglobulinemia, type 2, X-linked
PHENOTYPE_ID: 300310
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119661
>>180
LOCUSID: 180
CURRENT_LOCUSID: 375790
ORGANISM: Homo sapiens
>>181
LOCUSID: 181
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001138|4501994|na
NP: NP_001129|4501995
CDD: pfam05039: Agouti protein|16334|231|na|9.320830e+01
PRODUCT: agouti related protein homolog isoform 1
TRANSVAR: Transcript Variant: Transcript variant 1 contains a noncoding 5' exon and is expressed only in brain.
ASSEMBLY: U88063
NM: NM_007316|6598317|na
NP: NP_015531|6598318
CDD: pfam05039: Agouti protein|16334|231|na|9.320830e+01
PRODUCT: agouti related protein homolog isoform 2
TRANSVAR: Transcript Variant: Transcript variant 2 lacks a 5' noncoding exon and is expressed in peripheral tissues.
ASSEMBLY: U88063
CONTIG: NT_010498.14|37541544|na|16238027|16239269|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_001138|4501994|na
XP: NP_001129|4501995|na
EVID: supported by alignment with mRNA
XM: NM_007316|6598317|na
XP: NP_015531|6598318|na
ACCNUM: AF281309|15384341|na|na|na
TYPE: g
PROT: AAK96256|15384342|1
ACCNUM: AF314194|15824722|na|na|na
TYPE: g
PROT: AAL09457|15824723|1
ACCNUM: U88063|1938362|na|na|na
TYPE: m
PROT: AAB52240|1938363|1
ACCNUM: U89485|2351714|na|na|na
TYPE: m
PROT: AAB68621|2351715|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O00253|2810995|0
OFFICIAL_SYMBOL: AGRP
OFFICIAL_GENE_NAME: agouti related protein homolog (mouse)
ALIAS_SYMBOL: ART
ALIAS_SYMBOL: AGRT
ALIAS_SYMBOL: ASIP2
PREFERRED_PRODUCT: agouti related protein homolog isoform 1
PREFERRED_PRODUCT: agouti related protein homolog isoform 2
SUMMARY: Summary: Agouti-related protein is an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation. Agouti-related protein is alternatively spliced into 2 variants which differ in 5' untranslated sequence length.
CHR: 16
STS: PMC310777P1|-|272676|na|na|epcr
STS: PMC310777P2|-|272686|na|na|epcr
COMP: 7184|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A181[id]+AND+gene[obj_type]&QSTR=agrp&cmd=focus&fill=10|Mouse
ALIAS_PROT: agouti (mouse) related protein
ALIAS_PROT: Agouti-related transcript, mouse, homolog of
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=104633
UNIGENE: Hs.104633
OMIM: 602311
MAP: 16q22|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602311">OMIM</a>|C|
MAPLINK: default_human_gene|AGRP
PHENOTYPE: Leanness, inherited
PHENOTYPE_ID: 602311
PHENOTYPE: Obesity, late-onset
PHENOTYPE_ID: 601665
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=181
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=181[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9848638
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001138
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001138
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+181
PMID: 15121772,15054840,12213871,11747427,11602360,11554767,10366820,10318826,9751529,9354787,9311920,9119224
GO: cellular component|extracellular|IEA|GO:0005576|GOA|na
GO: biological process|feeding behavior|TAS|GO:0007631|GOA|9751529
GO: biological process|hormone-mediated signaling|IEA|GO:0009755|GOA|na
GO: molecular function|neuropeptide hormone activity|TAS|GO:0005184|GOA|9311920
GO: biological process|neuropeptide signaling pathway|TAS|GO:0007218|GOA|9311920
GO: molecular function|receptor binding|TAS|GO:0005102|GOA|10318826
>>182
LOCUSID: 182
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000214|4557678|na
NP: NP_000205|4557679
CDD: pfam01414: Delta serrate ligand|16949|239|na|9.616540e+01
CDD: smart00215: von Willebrand factor (vWF) type C domain|191|186|na|7.593860e+01
CDD: KOG1217: Fibrillins and related proteins containing Ca2+-binding EGF-like domains [Signal transduction mechanisms]|19006|143|na|6.003170e+01
CDD: KOG1219: Uncharacterized conserved protein, contains laminin, cadherin and EGF domains [Signal transduction mechanisms]|19008|225|na|9.085520e+01
CDD: cd00054: Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins|14791|98|na|4.179300e+01
CDD: cd00054: Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins|14791|98|na|4.179300e+01
PRODUCT: jagged 1 precursor
ASSEMBLY: AF003837,U73936
CONTIG: NT_011387.8|27501067|na|10558334|10594590|-|20|reference
EVID: supported by alignment with mRNA
XM: NM_000214|4557678|na
XP: NP_000205|4557679|na
ACCNUM: AL035456|9801541|na|na|na
TYPE: g
PROT: CAC07198|9971118|1
ACCNUM: AF003837|2228792|na|na|na
TYPE: m
PROT: AAC51731|2228793|1
ACCNUM: AF028593|2599081|na|na|na
TYPE: m
PROT: AAB84053|2599082|1
ACCNUM: U61276|1438936|na|na|na
TYPE: m
PROT: AAB39007|1438937|1
ACCNUM: U73936|1695273|na|na|na
TYPE: m
PROT: AAC52020|1695274|1
ACCNUM: U77720|2130536|na|na|na
TYPE: m
PROT: AAC51323|2130537|1
ACCNUM: U77914|1684889|na|na|na
TYPE: m
PROT: AAC50909|1684890|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P78504|20455033|0
OFFICIAL_SYMBOL: JAG1
OFFICIAL_GENE_NAME: jagged 1 (Alagille syndrome)
ALIAS_SYMBOL: AGS
ALIAS_SYMBOL: AHD
ALIAS_SYMBOL: AWS
ALIAS_SYMBOL: HJ1
ALIAS_SYMBOL: JAGL1
PREFERRED_PRODUCT: jagged 1 precursor
SUMMARY: Summary: The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein.  Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch.  Mutations that alter the jagged 1 protein cause Alagille syndrome.  Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis.
CHR: 20
STS: WI-17032|20|13027|na|seq_map|epcr
STS: JAG1_1238|-|277396|na|na|epcr
COMP: 180|20|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=20&MAPS=genes-r-org/rat-chr/human%3A20,genes-r-org/mouse-chr/human%3A20,genes-r-org/human-chr20&query=e%3A182[id]+AND+gene[obj_type]&QSTR=jag1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: jagged1 (Alagille syndrome)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409202
UNIGENE: Hs.409202
OMIM: 601920
MAP: 20p12.1-p11.23|RefSeq|C|
MAPLINK: default_human_gene|JAG1
PHENOTYPE: Alagille syndrome
PHENOTYPE_ID: 118450
PHENOTYPE: Deafness, congenital heart defects, and posterior embryotoxon
PHENOTYPE_ID: 601920
PHENOTYPE: Tetralogy of Fallot
PHENOTYPE_ID: 187500
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=182
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=182[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6175920
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000214
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000214
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=601920
PMID: 14769803,14726396,12842995,12826675,12684674,12649809,12497640,12496248,12442286,12370358,12357247,12297837,12107827,12022040,11999354,11964309,11745040,11549580,11427524,11067884,10679295,10329626,10079256,9462510,9268641,9207788,9207787,8955070,8923452,7697721
GO: molecular function|Notch binding|NAS|GO:0005112|GOA|9268641
GO: biological process|Notch signaling pathway|NAS|GO:0007219|GOA|9268641
GO: biological process|angiogenesis|NAS|GO:0001525|GOA|8955070
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|calcium ion binding|NAS|GO:0005509|GOA|na
GO: biological process|cell communication|IEA|GO:0007154|GOA|na
GO: biological process|cell fate determination|NAS|GO:0001709|GOA|9207788
GO: biological process|development|NAS|GO:0007275|GOA|na
GO: biological process|endothelial cell differentiation|NAS|GO:0045446|GOA|10329626
GO: cellular component|extracellular|NAS|GO:0005576|GOA|11427524
GO: molecular function|growth factor activity|NAS|GO:0008083|GOA|11067884
GO: biological process|hemopoiesis|NAS|GO:0030097|GOA|10329626
GO: cellular component|integral to plasma membrane|NAS|GO:0005887|GOA|11427524
GO: biological process|keratinocyte differentiation|NAS|GO:0030216|GOA|12107827
GO: biological process|myoblast differentiation|NAS|GO:0045445|GOA|10329626
GO: biological process|neurogenesis|NAS|GO:0007399|GOA|8923452
GO: biological process|regulation of cell migration|NAS|GO:0030334|GOA|11549580
GO: biological process|regulation of cell proliferation|NAS|GO:0042127|GOA|10329626
GO: molecular function|structural molecule activity|NAS|GO:0005198|GOA|10679295
>>183
LOCUSID: 183
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000029|4557286|na
NP: NP_000020|4557287
CDD: pfam00079: Serpin (serine protease inhibitor)|16611|741|na|2.894110e+02
PRODUCT: angiotensinogen precursor
ASSEMBLY: K02215
CONTIG: NT_021973.16|37539921|na|769274|780856|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_000029|4557286|na
XP: NP_000020|4557287|na
ACCNUM: M24689|341217|na|na|na
TYPE: g
PROT: AAA51679|532198|1
ACCNUM: S78529|999316|na|na|na
TYPE: g
PROT: AAD14287|4261987|1
ACCNUM: S78530|999317|na|na|na
TYPE: g
PROT: AAD14288|4261988|1
ACCNUM: X15324|1197496|na|na|na
TYPE: g
PROT: CAA33385|1197497|1
ACCNUM: BC011519|15079347|na|na|na
TYPE: m
PROT: AAH11519|15079348|1
ACCNUM: BT006851|30582540|na|na|na
TYPE: m
PROT: AAP35497|30582541|1
ACCNUM: K02215|178639|na|na|na
TYPE: m
PROT: AAA51731|178640|1
ACCNUM: M69110|178643|na|na|na
TYPE: m
PROT: AAA52282|553181|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P01019|113880|0
OFFICIAL_SYMBOL: AGT
OFFICIAL_GENE_NAME: angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 8)
ALIAS_SYMBOL: ANHU
ALIAS_SYMBOL: SERPINA8
PREFERRED_PRODUCT: angiotensinogen precursor
SUMMARY: Summary: The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia.
CHR: 1
STS: STS-H64380|-|54039|na|na|epcr
STS: WI-8965|1|65748|na|seq_map|epcr
STS: RH11822|1|67463|na|seq_map|epcr
COMP: 14|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A183[id]+AND+gene[obj_type]&QSTR=agt&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: angiotensin I
ALIAS_PROT: pre-angiotensinogen
ALIAS_PROT: angiotensin II precursor
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19383
UNIGENE: Hs.19383
OMIM: 106150
MAP: 1q42-q43|HUGO|C|
MAPLINK: default_human_gene|AGT
PHENOTYPE: Hypertension, essential, susceptibility to
PHENOTYPE_ID: 145500
PHENOTYPE: Preeclampsia, susceptibility to
PHENOTYPE_ID: 106150
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=183
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=183[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118750
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000029
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000029
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=106150
PMID: 15082899,15075192,15044674,15017542,14970360,14767903,14718574,14672953,14660489,14644777,14643574,14638622,14597849,14565954,14523024,14519430,12950120,12939534,12911556,12888892,12854169,12819040,12811821,12743009,12716844,12675870,12670743,12669427,12663475,12663441,12661912,12624946,12597535,12576245,12569265,12559679,12536339,12511525,12511523,12482638,12479284,12477932,12476891,12476421,12450315,12431442,12417054,12352892,12181364,12181363,12173461,12145290,12130713,12006677,11923478,11910301,11910300,11756575,11731937,8513325,8477848,7961807,6089875,3397061,2924688,2885106
GO: biological process|cell surface receptor linked signal transduction|TAS|GO:0007166|GOA|8477848
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|8513325
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: molecular function|hormone activity|NR|GO:0005179|GOA|na
GO: biological process|pregnancy|TAS|GO:0007565|GOA|8513325
GO: biological process|regulation of blood pressure|TAS|GO:0008217|GOA|8513325
GO: molecular function|serine-type endopeptidase inhibitor activity|TAS|GO:0004867|GOA|3397061
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|6089875
>>184
LOCUSID: 184
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AGTBP
OFFICIAL_GENE_NAME: angiotensin binding protein
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:682522
>>185
LOCUSID: 185
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000685|14043060|na
NP: NP_000676|4501997
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|395|na|1.562580e+02
PRODUCT: angiotensin II receptor, type 1
TRANSVAR: Transcript Variant: This splice variant (1) is the longer form. It includes an additional 84 bases in the 5' UTR.
ASSEMBLY: M87290,S77410,U07144
NM: NM_004835|14043061|na
NP: NP_004826|14043062
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|395|na|1.562580e+02
PRODUCT: angiotensin II receptor, type 1
TRANSVAR: Transcript Variant:  This variant (3) includes exons 1,3, and 5.  It differs from the other variants only in the  5' UTR.
ASSEMBLY: M87290,S77410,U07144
NM: NM_009585|14043067|na
NP: NP_033611|6715583
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|395|na|1.562580e+02
PRODUCT: angiotensin II receptor, type 1
TRANSVAR: Transcript Variant: This splice variant is the shorter form. It is missing 84 bases in the 5' UTR.
ASSEMBLY: M87290,S77410,U07144
NM: NM_031850|14043063|na
NP: NP_114038|14043064
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|395|na|1.562580e+02
PRODUCT: angiotensin II receptor, type 1
TRANSVAR: Transcript Variant: This variant (4) is the longest variant, including exons 1,2,3 and 5.  It differs from the other variants only in the 5' UTR.
ASSEMBLY: M87290,S77410,U07144
NM: NM_032049|14043065|na
NP: NP_114438|14043066
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|395|na|1.562580e+02
PRODUCT: angiotensin II receptor, type 1
TRANSVAR: Transcript Variant:  This variant (5) includes exons 4, 5, and at least part of exon 3. This transcript differs from other variants only in the 5' UTR.
ASSEMBLY: M87290,S77410
CONTIG: NT_005612.14|37550867|na|54910819|54955942|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_000685|14043060|na
XP: NP_000676|4501997|na
EVID: supported by alignment with mRNA
XM: NM_004835|14043061|na
XP: NP_004826|14043062|na
EVID: supported by alignment with mRNA
XM: NM_009585|14043067|na
XP: NP_033611|6715583|na
EVID: supported by alignment with mRNA
XM: NM_031850|14043063|na
XP: NP_114038|14043064|na
EVID: supported by alignment with mRNA
XM: NM_032049|14043065|na
XP: NP_114438|14043066|na
ACCNUM: AF245699|7862074|na|na|na
TYPE: g
PROT: AAF70464|7862075|1
ACCNUM: AY221090|29169211|na|na|na
TYPE: g
PROT: AAO65968|29169212|1
ACCNUM: M91464|179121|na|na|na
TYPE: g
PROT: AAA35569|179122|1
ACCNUM: S70433|546774|na|na|na
TYPE: g
ACCNUM: U07144|504474|na|na|na
TYPE: g
ACCNUM: Z11162|28709|na|na|na
TYPE: g
PROT: CAA77513|28710|1
ACCNUM: BC022447|18490885|na|na|na
TYPE: m
PROT: AAH22447|18490886|1
ACCNUM: BC068494|46250426|na|na|na
TYPE: m
PROT: AAH68494|46250427|1
ACCNUM: D13814|471120|na|na|na
TYPE: m
PROT: BAA02968|471121|1
ACCNUM: M87290|178682|na|na|na
TYPE: m
PROT: AAA35535|178683|1
ACCNUM: M93394|178680|na|na|na
TYPE: m
PROT: AAA58370|178681|1
ACCNUM: S77410|999393|na|na|na
TYPE: m
PROT: AAB34644|999394|1
ACCNUM: X65699|510983|na|na|na
TYPE: m
PROT: CAA46621|510984|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P30556|231519|0
PROT: Q13725|2495002|0
OFFICIAL_SYMBOL: AGTR1
OFFICIAL_GENE_NAME: angiotensin II receptor, type 1
ALIAS_SYMBOL: AT1
ALIAS_SYMBOL: AG2S
ALIAS_SYMBOL: AT1B
ALIAS_SYMBOL: AT2R1
ALIAS_SYMBOL: HAT1R
ALIAS_SYMBOL: AGTR1A
ALIAS_SYMBOL: AGTR1B
ALIAS_SYMBOL: AT2R1A
ALIAS_SYMBOL: AT2R1B
PREFERRED_PRODUCT: angiotensin II receptor, type 1
SUMMARY: Summary: Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. AGTR1 may play role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene AGTR1B exists; however, it is now believed that there is only one AGTR1 gene. The gene expresses at least four transcript variants; additional variants have been described but their full length nature has not been determined. Exon 5 contains the entire coding sequence and is present in all transcript variants.
CHR: 3
STS: RH17842|3|11000|na|seq_map|epcr
STS: SHGC-12732|3|33179|na|seq_map|epcr
STS: GDB:251663|3|156314|na|seq_map|epcr
STS: GDB:455679|3|157468|na|seq_map|epcr
STS: PMC310924P4|-|272815|na|na|epcr
STS: PMC55900P1|-|273356|na|na|epcr
COMP: 3556|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A185[id]+AND+gene[obj_type]&QSTR=agtr1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: angiotensin receptor 1
ALIAS_PROT: angiotensin receptor 1B
ALIAS_PROT: type-1B angiotensin II receptor
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89472
UNIGENE: Hs.89472
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=197063
UNIGENE: Hs.197063
OMIM: 106165
MAP: 3q21-q25|HUGO|C|
MAPLINK: default_human_gene|AGTR1
PHENOTYPE: Hypertension, essential
PHENOTYPE_ID: 145500
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=185
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=185[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132359
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031850
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031850
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=106165
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+185
DB_DESCR: PharmGKB: PA43
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA43
PMID: 15126556,15042429,14730619,14597852,14529856,12960024,12950120,12925562,12897464,12860335,12842881,12832734,12716844,12694874,12694873,12660887,12631360,12627873,12627871,12597535,12593997,12591176,12544439,12534336,12522132,12482634,12477932,12476891,12460700,12450401,12446598,12390711,12358135,12187084,12133421,12127057,12117739,12048678,12031955,12006574,11999641,11967817,11910301,11910300,11903322,11881039,11692158,11158334,9468203,8135787,7980575,7792812,7491117,1683828,1567413,1550596,1543512,1508224,1378723
GO: biological process|G-protein coupled receptor protein signaling pathway|NAS|GO:0007186|GOA|8135787
GO: molecular function|angiotensin type II receptor activity|NAS|GO:0004945|GOA|8135787
GO: molecular function|angiotensin type II receptor activity|TAS|GO:0004945|GOA|8135787
GO: biological process|circulation|NR|GO:0008015|GOA|8135787
GO: biological process|cytosolic calcium ion concentration elevation|TAS|GO:0007204|GOA|1567413
GO: biological process|fluid secretion|NR|GO:0007589|GOA|na
GO: cellular component|integral to membrane|NAS|GO:0016021|GOA|8135787
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|1378723
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>186
LOCUSID: 186
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000686|23238239|na
NP: NP_000677|23238240
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|416|na|1.643470e+02
PRODUCT: angiotensin II receptor, type 2
ASSEMBLY: U16957,U20860
CONTIG: NT_011565.6|37546122|na|298583|302400|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_000686|23238239|na
XP: NP_000677|23238240|na
ACCNUM: AY322542|32482004|na|na|na
TYPE: g
PROT: AAP84355|32482005|1
ACCNUM: L34579|510700|na|na|na
TYPE: g
PROT: AAA98990|510701|1
ACCNUM: U10273|607811|na|na|na
TYPE: g
PROT: AAA61794|607812|1
ACCNUM: U15592|558882|na|na|na
TYPE: g
PROT: AAA50762|558883|1
ACCNUM: U20860|747969|na|na|na
TYPE: g
PROT: AAA85851|747970|1
ACCNUM: U27478|1143833|na|na|na
TYPE: g
PROT: AAA84900|1143834|1
ACCNUM: U16957|595934|na|na|na
TYPE: m
PROT: AAA67753|595935|1
ACCNUM: X87723|860958|na|na|na
TYPE: m
PROT: CAA61022|860959|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P50052|1703214|0
OFFICIAL_SYMBOL: AGTR2
OFFICIAL_GENE_NAME: angiotensin II receptor, type 2
ALIAS_SYMBOL: AT2
PREFERRED_PRODUCT: angiotensin II receptor, type 2
SUMMARY: Summary: Angiotensin II is a potent pressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors termed AT1 and AT2. AGTR2 belongs to a family 1 of G-protein coupled receptors. It is an intergral membrane protein. It plays a role in the central nervous system and cardiovascular functions that are mediated by the renin-angiotensin system. This receptor mediates programmed cell death (apoptosis). In adults, it is highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. It is highly expressed in fetal kidney and intestine. The human AGTR2 gene is composed of three exons and spans at least 5 kb. Exons 1 and 2 encode for 5' untranslated mRNA sequence and exon 3 harbors the entire uninterrupted open reading frame.
CHR: X
STS: STS-U20860|X|28413|na|seq_map|epcr
STS: PMC153509P1|-|271257|na|na|epcr
COMP: 20172|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A186[id]+AND+gene[obj_type]&QSTR=agtr2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: angiotensin receptor 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=405348
UNIGENE: Hs.405348
OMIM: 300034
MAP: Xq22-q23|HUGO|C|
MAPLINK: default_human_gene|AGTR2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=186
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=186[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:134188
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000686
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000686
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+186
DB_DESCR: PharmGKB: PA44
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA44
PMID: 14657020,14598163,12925562,12924622,12911547,12881481,12746399,12660887,12531525,12453540,12133421,12089445,11880254,11819093,10406457,9099917,8552595,8502225,8185599,7999093,7945336,7790004,7733925,7719706,7477267,7477266,1550596
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|na
GO: molecular function|angiotensin type II receptor activity|TAS|GO:0004945|GOA|8502225
GO: biological process|apoptosis|TAS|GO:0006915|GOA|10406457
GO: biological process|behavior|TAS|GO:0007610|GOA|7477267
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|7945336
GO: molecular function|protein kinase inhibitor activity|TAS|GO:0004860|GOA|10406457
GO: biological process|regulation of blood pressure|TAS|GO:0008217|GOA|7477266
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>187
LOCUSID: 187
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005161|34577064|na
NP: NP_005152|4885057
CDD: pfam00001: 7 transmembrane receptor (rhodopsin family)|5814|418|na|1.651170e+02
PRODUCT: angiotensin II receptor-like 1
ASSEMBLY: BC032688,X89271
CONTIG: NT_033903.6|37541191|na|2174093|2177830|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_005161|34577064|na
XP: NP_005152|4885057|na
ACCNUM: U03642|425351|na|na|na
TYPE: g
PROT: AAA18954|425352|1
ACCNUM: AK074514|22760005|na|na|na
TYPE: m
PROT: BAC11032|22760006|1
ACCNUM: AK075252|22761218|na|na|na
TYPE: m
ACCNUM: AK097232|21756921|na|na|na
TYPE: m
ACCNUM: BC032688|21619182|na|na|na
TYPE: m
PROT: AAH32688|21619183|1
ACCNUM: X89271|6911643|na|na|na
TYPE: m
PROT: CAA61546|6911644|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35414|543823|0
OFFICIAL_SYMBOL: AGTRL1
OFFICIAL_GENE_NAME: angiotensin II receptor-like 1
ALIAS_SYMBOL: APJ
ALIAS_SYMBOL: MGC45246
PREFERRED_PRODUCT: angiotensin II receptor-like 1
SUMMARY: Summary: There are at least two distinct receptor subtypes of angiotensin II: angiotensin II receptor, type 1 (AGTR1) and angiotensin II receptor, type 2 (AGTR2). Most of the effects of angiotensin II are mediated by the AGTR1 receptor. This gene is related to the AGTR1 gene by sequence similarity. It was cloned based on a conserved transmembrane domain found in members of the G protein-coupled receptor (GPCR) gene family.
CHR: 11
STS: D11S4599|11|4775|D11S4599|seq_map|epcr
STS: A004D04|11|11355|na|seq_map|epcr
STS: AGTRL1|11|34070|na|seq_map|epcr
STS: RH70528|11|47893|na|seq_map|epcr
STS: SHGC-132053|11|170618|na|seq_map|epcr
STS: PMC110125P1|-|270183|na|na|epcr
COMP: 3784|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A187[id]+AND+gene[obj_type]&QSTR=agtrl1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: angiotensin receptor-like 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438311
UNIGENE: Hs.438311
OMIM: 600052
MAP: 11q12|HUGO|C|
MAPLINK: default_human_gene|AGTRL1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=187
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=187[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:364121
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005161
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005161
DB_DESCR: KEGG pathway: Neuroactive ligand-receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04080+187
PMID: 14702039,14675627,14645236,12667811,12477932,9792798,8294032
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|9792798
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|9792798
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8294032
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|9792798
GO: molecular function|receptor activity|TAS|GO:0004872|GOA|9792798
GO: molecular function|rhodopsin-like receptor activity|IEA|GO:0001584|GOA|na
>>188
LOCUSID: 188
LOCUS_CONFIRMED: no
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: WITHDRAWN
ACCNUM: L48211|1160612|na|na|na
TYPE: g
PROT: AAC37585|1160613|1
OFFICIAL_SYMBOL: AGTRL2
OFFICIAL_GENE_NAME: angiotensin II receptor-like 2
ALIAS_SYMBOL: ATR2L1
SUMMARY: DISCONTINUED: LocusID 188 was defined by L48211.1 and NM_005162.2 which do not appear to represent a protein coding gene.
SUMMARY: Summary: There are at least two distinct receptor subtypes of angiotensin II: angiotensin II receptor, type 1 (AGTR1) and angiotensin II receptor, type 2 (AGTR2). Most of the effects of angiotensin II are mediated by the AGTR1 receptor. This gene is predicted to encode a 71-amino acid protein with significant similarity to the carboxyl-terminal regulatory domain of angiotensin II receptor, type 1.
CHR: 22
STS: AL022542|-|45452|na|na|epcr
ALIAS_PROT: angiotensin receptor-like 2
ALIAS_PROT: angiotensin II receptor-like
MAP: 22q12.3|RefSeq|C|
MAPLINK: default_human_gene|AGTRL2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=188
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:1316745
PMID: 10435041,8567682
>>189
LOCUSID: 189
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000030|4557288|na
NP: NP_000021|4557289
CDD: KOG2862: Alanine-glyoxylate aminotransferase AGT1 [General function prediction only]|20648|1472|na|5.711240e+02
PRODUCT: alanine-glyoxylate aminotransferase
ASSEMBLY: X53414
CONTIG: NT_005416.11|37549577|na|982766|993141|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_000030|4557288|na
XP: NP_000021|4557289|na
ACCNUM: M61763|178271|na|na|na
TYPE: g
PROT: AAA51680|178273|1
ACCNUM: AF191687|6176529|na|na|na
TYPE: m
PROT: AAF05604|6176530|1
ACCNUM: AF348451|13560683|na|na|na
TYPE: m
PROT: AAK30157|13560684|1
ACCNUM: D13368|219432|na|na|na
TYPE: m
PROT: BAA02632|219433|1
ACCNUM: X53414|28560|na|na|na
TYPE: m
PROT: CAA37493|28561|1
ACCNUM: X56092|36581|na|na|na
TYPE: m
PROT: CAA39572|36582|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P21549|134855|0
OFFICIAL_SYMBOL: AGXT
OFFICIAL_GENE_NAME: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
ALIAS_SYMBOL: AGT
ALIAS_SYMBOL: SPT
ALIAS_SYMBOL: AGT1
ALIAS_SYMBOL: SPAT
ALIAS_SYMBOL: TLH6
ALIAS_SYMBOL: AGXT1
PREFERRED_PRODUCT: alanine-glyoxylate aminotransferase
SUMMARY: Summary: The human AGXT protein product is normally localized in the peroxisomes of liver where it is involved in glyoxylate detoxification. Defects in the AGXT gene, some of which alter subcellular targetting, are the cause of Oxalosis I.
CHR: 2
STS: RH68691|2|14988|na|seq_map|epcr
COMP: 15|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A189[id]+AND+gene[obj_type]&QSTR=agxt&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: serine-pyruvate aminotransferase
ALIAS_PROT: alanine-glyoxylate aminotransferase, liver-specific peroxisomal
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=144567
UNIGENE: Hs.144567
OMIM: 604285
ECNUM: 2.6.1.44
ECNUM: 2.6.1.51
MAP: 2q36-q37|RefSeq|C|
MAPLINK: default_human_gene|AGXT
PHENOTYPE: Hyperoxaluria, primary, type 1
PHENOTYPE_ID: 259900
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=189
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=189[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127113
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/127113.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000030
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000030
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=604285
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+189
DB_DESCR: KEGG pathway: Glycine, serine and threonine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00260+189
PMID: 12899834,12169688,3709805,2363689,2253628,2045108,1703535,1301173
GO: molecular function|alanine-glyoxylate transaminase activity|TAS|GO:0008453|GOA|3709805
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: cellular component|peroxisome|TAS|GO:0005777|GOA|1703535,3709805
GO: molecular function|serine-pyruvate transaminase activity|IEA|GO:0004760|GOA|na
GO: molecular function|transaminase activity|IEA|GO:0008483|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>190
LOCUSID: 190
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000475|49574584|na
NP: NP_000466|5016090
CDD: smart00430: Ligand binding domain of hormone receptors|25326|177|na|7.236750e+01
PRODUCT: nuclear receptor subfamily 0, group B, member 1
ASSEMBLY: BC011564
CONTIG: NT_011757.13|37546406|na|26289019|26294045|-|X|reference
EVID: supported by alignment with mRNA
XM: NM_000475|49574584|na
XP: NP_000466|5016090|na
ACCNUM: U31929|1163076|na|na|na
TYPE: g
PROT: AAC13875|1163077|1
ACCNUM: BC011564|15079453|na|na|na
TYPE: m
PROT: AAH11564|15079454|1
ACCNUM: S74720|786531|na|na|na
TYPE: m
PROT: AAB32751|786532|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P51843|20532385|0
OFFICIAL_SYMBOL: NR0B1
OFFICIAL_GENE_NAME: nuclear receptor subfamily 0, group B, member 1
ALIAS_SYMBOL: AHC
ALIAS_SYMBOL: AHX
ALIAS_SYMBOL: DSS
ALIAS_SYMBOL: GTD
ALIAS_SYMBOL: HHG
ALIAS_SYMBOL: AHCH
ALIAS_SYMBOL: DAX1
ALIAS_SYMBOL: NROB1
PREFERRED_PRODUCT: nuclear receptor subfamily 0, group B, member 1
SUMMARY: Summary: This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
CHR: X
STS: RH80290|X|85503|na|seq_map|epcr
STS: GDB:555626|X|99114|na|seq_map|epcr
STS: GDB:555638|X|157693|na|seq_map|epcr
COMP: 403|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A190[id]+AND+gene[obj_type]&QSTR=nr0b1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: gonadotropin deficiency
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=268490
UNIGENE: Hs.268490
OMIM: 300473
MAP: Xp21.3-p21.2|RefSeq|C|
MAPLINK: default_human_gene|NR0B1
PHENOTYPE: Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
PHENOTYPE_ID: 300200
PHENOTYPE: Dosage-sensitive sex reversal
PHENOTYPE_ID: 300018
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=190
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=190[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118982
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:433750
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9954635
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118982.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000475
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000475
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=300200
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=300018
DB_DESCR: Integrated X Chromosome Database (IXDB)
DB_LINK: http://ixdb.mpimg-berlin-dahlem.mpg.de/bin/ixdbcmd.cgi?cmd=showObj&id=533401
PMID: 12843196,12771131,12727988,12636049,12519885,12477932,12213901,12083815,12034880,11875111,11748852,11738790,9486644,9415399,9384387,8675564,7990953,7951319,1505987,1301166
GO: cellular component|nucleus|NR|GO:0005634|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: biological process|sex determination|TAS|GO:0007530|GOA|9486644
GO: biological process|steroid biosynthesis|NR|GO:0006694|GOA|na
GO: molecular function|steroid hormone receptor activity|IEA|GO:0003707|GOA|na
GO: molecular function|transcription factor activity|NR|GO:0003700|GOA|9384387
>>191
LOCUSID: 191
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000687|9951914|na
NP: NP_000678|9951915
CDD: COG0499: S-adenosylhomocysteine hydrolase [Coenzyme metabolism]|10370|1672|na|6.480460e+02
CDD: cd00401: S-adenosyl-L-homocysteine hydrolase (AdoHycase) catalyzes the hydrolysis of S-adenosyl-L-homocysteine (AdoHyc) to form adenosine (Ado) and homocysteine (Hcy)|16573|1891|na|7.324330e+02
PRODUCT: S-adenosylhomocysteine hydrolase
ASSEMBLY: M61831,M61832
CONTIG: NT_028392.4|17458490|na|3034844|3057891|-|20|reference
EVID: supported by alignment with mRNA
XM: NM_000687|9951914|na
XP: NP_000678|9951915|na
ACCNUM: AL356299|9801385|na|na|na
TYPE: g
PROT: CAC09528|10241524|1
ACCNUM: AK097610|21757436|na|na|na
TYPE: m
ACCNUM: BC010018|33874985|na|na|na
TYPE: m
PROT: AAH10018|14603095|1
ACCNUM: BC011606|33869587|na|na|na
TYPE: m
PROT: AAH11606|15079562|1
ACCNUM: BT006697|30582232|na|na|na
TYPE: m
PROT: AAP35343|30582233|1
ACCNUM: M61831|178276|na|na|na
TYPE: m
PROT: AAA51681|178277|1
ACCNUM: M61832|178278|na|na|na
TYPE: m
PROT: AAA51682|178279|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P23526|20141702|0
OFFICIAL_SYMBOL: AHCY
OFFICIAL_GENE_NAME: S-adenosylhomocysteine hydrolase
ALIAS_SYMBOL: SAHH
PREFERRED_PRODUCT: S-adenosylhomocysteine hydrolase
SUMMARY: Summary: S-adenosylhomocysteine hydrolase catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family.
CHR: 20
STS: STS-M61832|20|6827|na|seq_map|epcr
STS: D20S1115|-|20671|D20S1115|na|epcr
STS: G44732|20|95207|na|seq_map|epcr
STS: GDB:451613|-|157327|na|na|epcr
COMP: 554|20|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=20&MAPS=genes-r-org/rat-chr/human%3A20,genes-r-org/mouse-chr/human%3A20,genes-r-org/human-chr20&query=e%3A191[id]+AND+gene[obj_type]&QSTR=ahcy&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenosylhomocysteinase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388004
UNIGENE: Hs.388004
OMIM: 180960
ECNUM: 3.3.1.1
MAP: 20cen-q13.1|HUGO|C|
MAPLINK: default_human_gene|AHCY
PHENOTYPE: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
PHENOTYPE_ID: 180960
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=191
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=191[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118983
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000687
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000687
DB_DESCR: KEGG pathway: Methionine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00271+191
DB_DESCR: KEGG pathway: Selenoamino acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00450+191
DB_DESCR: PharmGKB: PA24636
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24636
PMID: 14702039,12590576,12477932,12369977,12069606,7079734,6586634,2596825
GO: molecular function|adenosylhomocysteinase activity|TAS|GO:0004013|GOA|2596825
GO: cellular component|cytoplasm|NAS|GO:0005737|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|one-carbon compound metabolism|NAS|GO:0006730|GOA|na
>>192
LOCUSID: 192
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AIC
OFFICIAL_GENE_NAME: Aicardi syndrome
CHR: X
OMIM: 304050
MAP: Xp22|HUGO|C|
MAPLINK: default_human_cyto|AIC
PHENOTYPE: Aicardi syndrome
PHENOTYPE_ID: 304050
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118986
>>193
LOCUSID: 193
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AHDS
OFFICIAL_GENE_NAME: Allan-Herndon-Dudley syndrome
CHR: X
ALIAS_PROT: Allan-Herndon-Dudley mental retardation syndrome
OMIM: 309600
MAP: Xq21|HUGO|C|
MAPLINK: default_human_cyto|AHDS
PHENOTYPE: Allan-Herndon syndrome
PHENOTYPE_ID: 309600
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125899
>>194
LOCUSID: 194
CURRENT_LOCUSID: 57491
ORGANISM: Homo sapiens
>>195
LOCUSID: 195
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
ACCNUM: AK128868|34536451|na|na|na
TYPE: m
PROT: BAC87652|34536452|1
ACCNUM: M80899|178282|na|na|na
TYPE: m
PROT: AAA69898|897824|1
ACCNUM: M80902|178280|na|na|na
TYPE: m
PROT: AAA69899|178281|1
ACCNUM: X74818|535176|na|na|na
TYPE: m
PROT: CAA52817|535177|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q09666|39932547|0
OFFICIAL_SYMBOL: AHNAK
OFFICIAL_GENE_NAME: AHNAK nucleoprotein (desmoyokin)
ALIAS_SYMBOL: AHNAKRS
CHR: 11
STS: RH17740|11|21979|na|seq_map|epcr
STS: RH66240|11|48831|na|seq_map|epcr
STS: AHNAK|11|71820|na|seq_map|epcr
ALIAS_PROT: desmoyokin
ALIAS_PROT: AHNAK-related
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=378738
UNIGENE: Hs.378738
OMIM: 103390
MAP: 11q12-q13|RefSeq|C|
MAPLINK: default_human_cyto|AHNAK
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=195
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:386063
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=M80902
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=AK128868
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M80902
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AK128868
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.figgrp.1395
PMID: 12153988,11746675,7987395,7789175,1608957
GO: biological process|neurogenesis|NAS|GO:0007399|GOA|na
GO: cellular component|nucleus|NAS|GO:0005634|GOA|1608957
>>196
LOCUSID: 196
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001621|5016091|na
NP: NP_001612|4502003
CDD: KOG3560: Aryl-hydrocarbon receptor [Transcription]|21343|2253|na|8.720930e+02
CDD: KOG3559: Transcriptional regulator SIM1 [Transcription]|21342|269|na|1.079510e+02
PRODUCT: aryl hydrocarbon receptor
ASSEMBLY: D31708,L19872
CONTIG: NT_007819.14|37538470|na|16633898|16681044|+|7|reference
EVID: supported by alignment with mRNA
XM: NM_001621|5016091|na
XP: NP_001612|4502003|na
CONTIG: NT_079592.1|37538986|na|16704183|16751343|+|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001621|5016091|na
XP: NP_001612|4502003|na
ACCNUM: D31708|538228|na|na|na
TYPE: g
ACCNUM: D38044|532672|na|na|na
TYPE: g
PROT: BAA07235|1065998|1
ACCNUM: U28063|1040871|na|na|na
TYPE: g
PROT: AAA92082|1040873|1
ACCNUM: U28064|902013|na|na|na
TYPE: g
PROT: AAA92083|902014|1
ACCNUM: U28066|902491|na|na|na
TYPE: g
PROT: AAA92084|902493|1
ACCNUM: BC021696|18203889|na|na|na
TYPE: m
ACCNUM: BC069390|46854406|na|na|na
TYPE: m
PROT: AAH69390|46854407|1
ACCNUM: BC070080|47682747|na|na|na
TYPE: m
PROT: AAH70080|47682748|1
ACCNUM: D16354|464179|na|na|na
TYPE: m
PROT: BAA03857|533324|1
ACCNUM: L19872|416141|na|na|na
TYPE: m
PROT: AAA16210|416142|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35869|3041653|0
OFFICIAL_SYMBOL: AHR
OFFICIAL_GENE_NAME: aryl hydrocarbon receptor
PREFERRED_PRODUCT: aryl hydrocarbon receptor
SUMMARY: Summary:  Aryl hydrocarbon receptor is a ligand-activated transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons.  AHR has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450.  AHR ligands included a variety of aromatic hydrocarbons.
CHR: 7
STS: RH17631|7|222|na|seq_map|epcr
STS: AHR|7|49614|AHR|seq_map|epcr
STS: AHR|7|57369|AHR|seq_map|epcr
STS: D7S2777|7|60422|D7S2777|na|epcr
STS: GDB:1317964|-|62704|na|na|epcr
COMP: 1224|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A196[id]+AND+gene[obj_type]&QSTR=ahr&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=170087
UNIGENE: Hs.170087
OMIM: 600253
MAP: 7p15|RefSeq|C|
MAPLINK: default_human_gene|AHR
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=196
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=196[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:138471
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001621
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001621
PMID: 15190133,15069065,15026081,14985336,14973392,14560034,12837759,12774124,12730383,12637498,12612060,12592376,12586752,12566446,12520072,12480531,12477932,12213390,12213388,12200463,12139968,12065584,12024042,11835227,11805098,11768231,11756572,11742002,11689007,10395741,9972449,9170146,8393992,8246913,8125016,8074712,7961644,7883760,7515333
GO: biological process|apoptosis|TAS|GO:0006915|GOA|12213388
GO: biological process|cell cycle|TAS|GO:0007049|GOA|12213388
GO: molecular function|ligand-dependent nuclear receptor activity|IDA|GO:0004879|GOA|10395741
GO: cellular component|nucleus|IDA|GO:0005634|GOA|10395741
GO: biological process|regulation of transcription, DNA-dependent|IDA|GO:0006355|GOA|10395741
GO: biological process|response to stress|IDA|GO:0006950|GOA|7961644
GO: biological process|response to xenobiotic stimulus|IDA|GO:0009410|GOA|7961644
GO: biological process|signal transduction|IEA|GO:0007165|GOA|na
GO: molecular function|transcription factor activity|NR|GO:0003700|GOA|9170146
GO: biological process|transcription from Pol II promoter|IDA|GO:0006366|GOA|10395741
>>197
LOCUSID: 197
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001622|4502004|na
NP: NP_001613|4502005
CDD: pfam00031: Cystatin domain|9038|175|na|7.152540e+01
PRODUCT: alpha-2-HS-glycoprotein
ASSEMBLY: M16961
CONTIG: NT_005612.14|37550867|na|92826045|92834263|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_001622|4502004|na
XP: NP_001613|4502005|na
ACCNUM: AB038689|7106501|na|na|na
TYPE: g
PROT: BAA92189|7106502|1
ACCNUM: D67013|2521982|na|na|na
TYPE: g
PROT: BAA22652|2521983|1
ACCNUM: BC048198|29386999|na|na|na
TYPE: m
PROT: AAH48198|29387000|1
ACCNUM: BC052590|30851644|na|na|na
TYPE: m
PROT: AAH52590|30851645|1
ACCNUM: D67012|2521980|na|na|na
TYPE: m
PROT: BAA22651|2521981|1
ACCNUM: M16961|178283|na|na|na
TYPE: m
PROT: AAA51683|178284|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02765|112910|0
OFFICIAL_SYMBOL: AHSG
OFFICIAL_GENE_NAME: alpha-2-HS-glycoprotein
ALIAS_SYMBOL: AHS
ALIAS_SYMBOL: HSGA
ALIAS_SYMBOL: FETUA
PREFERRED_PRODUCT: alpha-2-HS-glycoprotein
SUMMARY: Summary: Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure.
CHR: 3
STS: SHGC-2497|3|12309|na|seq_map|epcr
STS: HUM00TW154|3|12310|na|seq_map|epcr
STS: STS-M16961|3|16574|na|seq_map|epcr
STS: D3S3887|3|74904|D3S3887|seq_map|epcr
STS: GDB:181194|-|155168|na|na|epcr
COMP: 1225|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A197[id]+AND+gene[obj_type]&QSTR=ahsg&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Alpha-2HS-glycoprotein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324746
UNIGENE: Hs.324746
OMIM: 138680
MAP: 3q27|HUGO|C|
MAPLINK: default_human_gene|AHSG
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=197
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=197[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118985
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001622
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001622
PMID: 14667137,12773197,12725640,12642050,12556469,12477932,12207096,12203945,12153747,11922920,10947975,9322749,9003486,7736783,3944104,3474608,3356172
GO: biological process|acute-phase response|IDA|GO:0006953|GOA|12153747
GO: molecular function|cysteine protease inhibitor activity|IEA|GO:0004869|GOA|na
GO: cellular component|extracellular space|NAS|GO:0005615|GOA|11922920
GO: molecular function|kinase inhibitor activity|NAS|GO:0019210|GOA|12203945
GO: biological process|negative regulation of bone mineralization|ISS|GO:0030502|GOA|na
GO: biological process|negative regulation of insulin receptor signaling pathway|NAS|GO:0046627|GOA|12153747
GO: biological process|pinocytosis|NAS|GO:0006907|GOA|12773197
GO: biological process|positive regulation of phagocytosis|IDA|GO:0050766|GOA|12725640
GO: biological process|regulation of inflammatory response|IMP|GO:0050727|GOA|12642050
GO: biological process|skeletal development|NAS|GO:0001501|GOA|12153747
>>198
LOCUSID: 198
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AIED
OFFICIAL_GENE_NAME: Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)
ALIAS_SYMBOL: OA2
CHR: X
OMIM: 300600
MAP: Xp21-q21|RefSeq|C|
MAPLINK: default_human_cyto|AIED
PHENOTYPE: Ocular albinism, Forsius-Eriksson type
PHENOTYPE_ID: 300600
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119663
>>199
LOCUSID: 199
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001623|14574567|na
NP: NP_001614|14574568
CDD: KOG0027: Calmodulin and related proteins (EF-Hand superfamily) [Signal transduction mechanisms]|17825|91|na|3.926630e+01
CDD: KOG0041: Predicted Ca2+-binding protein, EF-Hand protein superfamily [General function prediction only]|17839|111|na|4.693780e+01
PRODUCT: allograft inflammatory factor 1 isoform 3
TRANSVAR: Transcript Variant: This variant (3) encodes the longest isoform (3).
ASSEMBLY: Y14768
NM: NM_004847|6680470|na
NP: NP_004838|4758612
CDD: KOG0041: Predicted Ca2+-binding protein, EF-Hand protein superfamily [General function prediction only]|17839|112|na|4.732300e+01
PRODUCT: allograft inflammatory factor 1 isoform 2
TRANSVAR: Transcript Variant: This variant (2) includes exons 2, 3, and 6.  Exons 3 and 6 use alternate splice sites, as compared to variant 3. Its encoded protein, isoform 2, has a unique N-terminus compared to the other isoforms since its coding sequence starts in exon 2; its C-terminus is also unique due to use of a different termination codon.
ASSEMBLY: Y14768
NM: NM_032955|14574565|na
NP: NP_116573|14574566
CDD: KOG0027: Calmodulin and related proteins (EF-Hand superfamily) [Signal transduction mechanisms]|17825|87|na|3.772550e+01
CDD: KOG0041: Predicted Ca2+-binding protein, EF-Hand protein superfamily [General function prediction only]|17839|115|na|4.847860e+01
PRODUCT: allograft inflammatory factor 1 isoform 1
TRANSVAR: Transcript Variant: This variant (1) includes exons 4, 5, and 6. Exon 4 uses an alternate splice site, as compared to variant 3. Its encoded protein, isoform 1, has a unique N-terminus compared to the other isoforms since its coding sequence starts in exon 4; its C-terminus is identical to isoform 3.
ASSEMBLY: Y14768
CONTIG: NT_007592.13|29804415|na|22437589|22439354|+|6|reference
EVID: supported by alignment with mRNA
XM: NM_001623|14574567|na
XP: NP_001614|14574568|na
EVID: supported by alignment with mRNA
XM: NM_004847|6680470|na
XP: NP_004838|4758612|na
EVID: supported by alignment with mRNA
XM: NM_032955|14574565|na
XP: NP_116573|14574566|na
ACCNUM: AF129756|4337095|na|na|na
TYPE: g
PROT: AAD18087|4337111|1
ACCNUM: AP000505|5926692|na|na|na
TYPE: g
PROT: BAB63392|15277264|1
ACCNUM: Y14768|3805800|na|na|na
TYPE: g
PROT: CAA75060|3805801|1
PROT: CAA75061|3805802|1
PROT: CAA75062|3805803|1
ACCNUM: BC009474|14550452|na|na|na
TYPE: m
PROT: AAH09474|14550453|1
ACCNUM: D86438|1596162|na|na|na
TYPE: m
PROT: BAA13088|1596163|1
ACCNUM: U19713|1122908|na|na|na
TYPE: m
PROT: AAB05003|1122909|1
ACCNUM: U49392|1229021|na|na|na
TYPE: m
PROT: AAA92457|1229022|1
ACCNUM: U95213|2735480|na|na|na
TYPE: m
PROT: AAC24422|2735481|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P55008|1703217|0
OFFICIAL_SYMBOL: AIF1
OFFICIAL_GENE_NAME: allograft inflammatory factor 1
ALIAS_SYMBOL: IBA1
ALIAS_SYMBOL: AIF-1
ALIAS_SYMBOL: IRT-1
PREFERRED_PRODUCT: allograft inflammatory factor 1 isoform 1
PREFERRED_PRODUCT: allograft inflammatory factor 1 isoform 2
PREFERRED_PRODUCT: allograft inflammatory factor 1 isoform 3
SUMMARY: Summary: This gene is induced by cytokines and interferon. Its protein product is thought to be involved in negative regulation of growth of vascular smooth muscle cells, which contributes to the anti-inflammatory response to vessel wall trauma. The gene expresses three transcripts.
CHR: 6
STS: D6S1864|6|28592|D6S1864|seq_map|epcr
COMP: 1226|6|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=6&MAPS=genes-r-org/rat-chr/human%3A6,genes-r-org/mouse-chr/human%3A6,genes-r-org/human-chr6&query=e%3A199[id]+AND+gene[obj_type]&QSTR=aif1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Em:AF129756.17
ALIAS_PROT: interferon gamma responsive transcript
ALIAS_PROT: ionized calcium-binding adapter molecule
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76364
UNIGENE: Hs.76364
OMIM: 601833
MAP: 6p21.3|RefSeq|C|
MAPLINK: default_human_gene|AIF1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=199
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=199[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6278877
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004847
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004847
PMID: 12887599,12714565,12477932,9614071,8912632,8629302,8499947,7769138
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|cell cycle arrest|TAS|GO:0007050|GOA|9614071
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|8912632
GO: biological process|negative regulation of cell proliferation|TAS|GO:0008285|GOA|9614071
GO: cellular component|nucleus|TAS|GO:0005634|GOA|9614071
GO: biological process|response to stress|TAS|GO:0006950|GOA|9614071
>>200
LOCUSID: 200
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AIH2
OFFICIAL_GENE_NAME: amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
ALIAS_SYMBOL: ADAI
CHR: 4
STS: D4S395|4|61766|D4S395|seq_map|7833920
STS: D4S392|4|67447|D4S392|seq_map|7833920
ALIAS_PROT: amelogenesis imperfecta 2, hypoplastic, local (autosomal dominant)
OMIM: 104500
MAP: 4q11-q21|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104500">OMIM</a>|C|
MAPLINK: default_human_cyto|AIH2
PHENOTYPE: Amelogenesis imperfecta-2, hypoplastic local type
PHENOTYPE_ID: 104500
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118751
PMID: 7833920
>>201
LOCUSID: 201
LOCUS_CONFIRMED: yes
LOCUS_TYPE: quantitative trait locus (QTL) (phenotype)
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AIH3
OFFICIAL_GENE_NAME: amelogenesis imperfecta 3, hypomaturation or hypoplastic type
CHR: X
OMIM: 301201
MAP: Xq22-q28|HUGO|C|
MAPLINK: default_human_cyto|AIH3
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:131443
PMID: 1358807
>>202
LOCUSID: 202
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: MODEL
CONTIG: NT_025741.13|37551196|na|10978112|11187753|+|6|reference
EVID: supported by alignment with both mRNA and ESTs (12)
XM: XM_166300|42657441|na
XP: XP_166300|41147282|na
CDD: Beta/gamma crystallins|smart00247|250|1.054e-21|100.252
CDD: Ricin-type beta-trefoil|smart00458|144|1.454e-09|59.787
CDD: Beta/Gamma crystallin. The alignment comprises two Greek key motifs since the similarity between them is very low|pfam00030|231|1.729e-19|92.876
ACCNUM: U83116|2072426|na|na|na
TYPE: g
PROT: AAB53792|2072427|1
ACCNUM: AK025693|10438294|na|na|na
TYPE: m
ACCNUM: AK056705|16552184|na|na|na
TYPE: m
ACCNUM: AK125137|34531130|na|na|na
TYPE: m
ACCNUM: U83115|2072424|na|na|na
TYPE: m
PROT: AAB53791|2072425|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q9Y4K1|12643308|0
OFFICIAL_SYMBOL: AIM1
OFFICIAL_GENE_NAME: absent in melanoma 1
ALIAS_SYMBOL: ST4
CHR: 6
STS: D6S2123|6|74521|D6S2123|seq_map|epcr
STS: D6S1886|6|81023|D6S1886|seq_map|epcr
COMP: 18168|6|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=6&MAPS=genes-r-org/rat-chr/human%3A6,genes-r-org/mouse-chr/human%3A6,genes-r-org/human-chr6&query=e%3A202[id]+AND+gene[obj_type]&QSTR=aim1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422550
UNIGENE: Hs.422550
OMIM: 601797
MAP: 6q21|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601797">OMIM</a>|C|
MAPLINK: default_human_gene|AIM1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=202
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=202[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6268479
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=U83115
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U83115
PMID: 14702039,12693952,9096375,8700511,1680551
GO: cellular component|cellular_component unknown|ND|GO:0008372|GOA|na
GO: biological process|heterophilic cell adhesion|IEA|GO:0007157|GOA|na
GO: molecular function|sugar binding|IEA|GO:0005529|GOA|na
>>203
LOCUSID: 203
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000476|4502010|na
NP: NP_000467|4502011
CDD: KOG3079: Uridylate kinase/adenylate kinase [Nucleotide transport and metabolism]|20864|673|na|2.632160e+02
CDD: KOG3347: Predicted nucleotide kinase/nuclear protein involved oxidative stress response [Nucleotide transport and metabolism]|21132|90|na|3.870340e+01
PRODUCT: adenylate kinase 1
ASSEMBLY: J04809
CONTIG: NT_008470.16|37540590|na|32286404|32297676|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_000476|4502010|na
XP: NP_000467|4502011|na
ACCNUM: J04809|178321|na|na|na
TYPE: g
PROT: AAA51686|178322|1
ACCNUM: AB021871|4996564|na|na|na
TYPE: m
PROT: BAA78534|4996565|1
ACCNUM: BC001116|33876011|na|na|na
TYPE: m
PROT: AAH01116|12654563|1
ACCNUM: BC036803|23958693|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P00568|20178288|0
OFFICIAL_SYMBOL: AK1
OFFICIAL_GENE_NAME: adenylate kinase 1
PREFERRED_PRODUCT: adenylate kinase 1
SUMMARY: Summary: Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. Alternative splicing of the AK1 gene yields two transcripts of 0.9 kb and 2.5 kb. The two transcripts differ in the 3-prime non-coding region and use two distinct polyadenylation signals.
CHR: 9
STS: SHGC-31174|9|14393|na|seq_map|epcr
STS: G44718|9|95193|na|seq_map|epcr
STS: SHGC-112607|-|168629|na|na|epcr
STS: SHGC-31625|9|173790|na|seq_map|epcr
COMP: 20135|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A203[id]+AND+gene[obj_type]&QSTR=ak1&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76240
UNIGENE: Hs.76240
OMIM: 103000
ECNUM: 2.7.4.3
MAP: 9q34.1|HUGO|C|
MAPLINK: default_human_gene|AK1
PHENOTYPE: Hemolytic anemia due to adenylate kinase deficiency
PHENOTYPE_ID: 103000
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=203
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=203[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119664
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000476
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000476
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+203
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+203
PMID: 12649162,12477932,7947281,6305188,2542324,2541064
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|ATP metabolism|IEA|GO:0046034|GOA|na
GO: molecular function|adenylate kinase activity|TAS|GO:0004017|GOA|2542324
GO: cellular component|cytosol|NR|GO:0005829|GOA|na
GO: molecular function|kinase activity|IEA|GO:0016301|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>204
LOCUSID: 204
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001625|26665889|na
NP: NP_001616|4502013
CDD: KOG3078: Adenylate kinase [Nucleotide transport and metabolism]|20863|753|na|2.941570e+02
PRODUCT: adenylate kinase 2 isoform a
TRANSVAR: Transcript Variant: This variant (AK2A) encodes the longest isoform (a).
ASSEMBLY: AB005622,U84371
NM: NM_013411|26665888|na
NP: NP_037543|7524346
CDD: pfam00406: Adenylate kinase|22990|748|na|2.921410e+02
PRODUCT: adenylate kinase 2 isoform b
TRANSVAR: Transcript Variant: This variant (AK2B) differs in the 3' UTR and 3' coding region compared to variant AK2A, resulting in a shorter isoform (b) with a different C-terminus compared to isoform a.
ASSEMBLY: AB005622,U54645,U84371
NM: NM_172199|26665890|na
NP: NP_751949|26665891
CDD: pfam00406: Adenylate kinase|22990|624|na|2.443760e+02
PRODUCT: adenylate kinase 2 isoform c
TRANSVAR: Transcript Variant: This variant (AK2C) differs in the 3' UTR and 3' coding region compared to variant AK2A, resulting in a shorter isoform (c) with a different C-terminus compared to isoform a.
ASSEMBLY: AB005622,AY080899,U84371
CONTIG: NT_004511.16|37548184|na|3413427|3440873|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_001625|26665889|na
XP: NP_001616|4502013|na
EVID: supported by alignment with mRNA
XM: NM_013411|26665888|na
XP: NP_037543|7524346|na
EVID: supported by alignment with mRNA
XM: NM_172199|26665890|na
XP: NP_751949|26665891|na
ACCNUM: AB005621|2832907|na|na|na
TYPE: m
PROT: BAC16747|24024982|1
ACCNUM: AB005622|2832908|na|na|na
TYPE: m
PROT: BAC16748|24024985|1
ACCNUM: AY080899|19526592|na|na|na
TYPE: m
PROT: AAL87027|19526593|1
ACCNUM: AY080900|19526590|na|na|na
TYPE: m
PROT: AAL87028|19526591|1
ACCNUM: BC009405|39645192|na|na|na
TYPE: m
PROT: AAH09405|14424799|1
ACCNUM: BC026705|19934328|na|na|na
TYPE: m
ACCNUM: BC070127|47682990|na|na|na
TYPE: m
PROT: AAH70127|47682991|1
ACCNUM: U39945|1209686|na|na|na
TYPE: m
PROT: AAC52061|1209687|1
ACCNUM: U54645|1710886|na|na|na
TYPE: m
PROT: AAC13881|1477653|1
ACCNUM: U84371|1813879|na|na|na
TYPE: m
PROT: AAB41790|1813880|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P54819|1708596|0
ACCNUM: AK023758|na|na|na|na
TYPE: u
OFFICIAL_SYMBOL: AK2
OFFICIAL_GENE_NAME: adenylate kinase 2
ALIAS_SYMBOL: ADK2
PREFERRED_PRODUCT: adenylate kinase 2 isoform a
PREFERRED_PRODUCT: adenylate kinase 2 isoform b
PREFERRED_PRODUCT: adenylate kinase 2 isoform c
SUMMARY: Summary: Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Transcript variants encoding distinct isoforms have been identified for this gene.
CHR: 1
STS: RH70625|1|25567|na|seq_map|epcr
STS: STS-AA029315|1|38054|na|seq_map|epcr
STS: SHGC-74553|1|47633|na|na|epcr
STS: RH80838|1|87838|na|seq_map|epcr
STS: D1S2291|-|153678|D1S2291|na|epcr
STS: PMC196577P1|-|271814|na|na|epcr
ALIAS_PROT: ATP-AMP transphosphorylase
ALIAS_PROT: adenylate kinase, mitochondrial
ALIAS_PROT: adenylate kinase isoenzyme 2, mitochondrial
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=294008
UNIGENE: Hs.294008
OMIM: 103020
ECNUM: 2.7.4.3
MAP: 1p34|HUGO|C|
MAPLINK: default_human_gene|AK2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=204
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=204[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118987
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013411
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013411
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+204
DB_DESCR: PharmGKB: PA24656
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24656
PMID: 14702039,12477932,9504408,9434148,8843353,195572
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|adenylate kinase activity|TAS|GO:0004017|GOA|9504408
GO: molecular function|kinase activity|IEA|GO:0016301|GOA|na
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>205
LOCUSID: 205
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_013410|8051578|na
NP: NP_037542|8051579
CDD: KOG3078: Adenylate kinase [Nucleotide transport and metabolism]|20863|211|na|8.537900e+01
PRODUCT: adenylate kinase 3
ASSEMBLY: X60673
CONTIG: NT_032977.6|37547124|na|27176977|27255782|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_013410|8051578|na
XP: NP_037542|8051579|na
ACCNUM: AK025926|10438591|na|na|na
TYPE: m
ACCNUM: BC016180|16740594|na|na|na
TYPE: m
PROT: AAH16180|16740595|1
ACCNUM: BC040224|25955539|na|na|na
TYPE: m
PROT: AAH40224|25955540|1
ACCNUM: BC066944|44890435|na|na|na
TYPE: m
PROT: AAH66944|44890436|1
ACCNUM: BM763432|19093047|na|na|na
TYPE: m
ACCNUM: BU164554|22678506|na|na|na
TYPE: m
ACCNUM: X60673|28576|na|na|na
TYPE: m
PROT: CAA43088|28577|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P27144|125157|0
OFFICIAL_SYMBOL: AK3
OFFICIAL_GENE_NAME: adenylate kinase 3
ALIAS_SYMBOL: AK4
PREFERRED_PRODUCT: adenylate kinase 3
SUMMARY: Summary: Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. Sequence alignment suggests that the gene defined by NM_013410.1 is located on chromosome 1. Two transcript variants encoding the same protein have been identified for this gene.
CHR: 1
STS: WI-7525|-|77919|na|na|epcr
STS: RH70853|-|86783|na|na|epcr
ALIAS_PROT: GTP:AMP phosphotransferase
ALIAS_PROT: adenylate kinase-3, mitochondrial
ALIAS_PROT: adenylate kinase isoenzyme 4, mitochondrial
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=10862
UNIGENE: Hs.10862
OMIM: 103030
ECNUM: 2.7.4.10
MAP: 9pter-p13|HUGO|C|1p31.3|RefSeq|C|
MAPLINK: default_human_gene|AK3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=205
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=205[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118988
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013410
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013410
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+205
PMID: 12477932,10215863,9813319,7140357,1639383
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|adenylate kinase activity|IEA|GO:0004017|GOA|na
GO: molecular function|kinase activity|IEA|GO:0016301|GOA|na
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: biological process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|NR|GO:0006139|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>206
LOCUSID: 206
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001070|20270458|na|1|2026
CONTIG: NT_010799.14|37544509|na|4409530|4410201|+|17|na
EVID: alignment with NG_001070
XG: NG_001070|20270458|na
ACCNUM: X60674|28578|na|na|na
TYPE: g
OFFICIAL_SYMBOL: AK3P1
OFFICIAL_GENE_NAME: adenylate kinase 3 pseudogene 1
CHR: 17
MAP: 17q11.2|HUGO|C|
MAPLINK: default_human_gene|AK3P1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=206
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132659
PMID: 1639383
>>207
LOCUSID: 207
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005163|4885060|na
NP: NP_005154|4885061
CDD: smart00233: Pleckstrin homology domain|22714|139|na|5.785170e+01
CDD: KOG0690: Serine/threonine protein kinase [Signal transduction mechanisms]|18484|2263|na|8.758780e+02
CDD: KOG0598: Ribosomal protein S6 kinase and related proteins [General function prediction only, Signal transduction mechanisms]|18393|1047|na|4.073650e+02
PRODUCT: serine/threonine protein kinase
ASSEMBLY: M63167
CONTIG: NT_026437.10|29736559|na|85137384|85177216|-|14|reference
EVID: supported by alignment with mRNA
XM: NM_005163|4885060|na
XP: NP_005154|4885061|na
ACCNUM: AF283830|18027297|na|na|na
TYPE: g
PROT: AAL55732|18027298|1
ACCNUM: AK122894|34528338|na|na|na
TYPE: m
ACCNUM: BC000479|33875493|na|na|na
TYPE: m
PROT: AAH00479|12653417|1
ACCNUM: BC001737|12804626|na|na|na
TYPE: m
PROT: AAH01737|12804627|1
ACCNUM: BX648205|34367364|na|na|na
TYPE: m
ACCNUM: M63167|190827|na|na|na
TYPE: m
PROT: AAA36539|190828|1
ACCNUM: X61037|35480|na|na|na
TYPE: m
PROT: CAA43372|35481|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P31749|400143|0
OFFICIAL_SYMBOL: AKT1
OFFICIAL_GENE_NAME: v-akt murine thymoma viral oncogene homolog 1
ALIAS_SYMBOL: PKB
ALIAS_SYMBOL: RAC
ALIAS_SYMBOL: PRKBA
ALIAS_SYMBOL: RAC-ALPHA
PREFERRED_PRODUCT: serine/threonine protein kinase
SUMMARY: Summary: The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery.
CHR: 14
STS: RH69160|14|12879|na|seq_map|epcr
STS: RH47592|14|42837|na|seq_map|epcr
STS: RH101916|14|96251|na|seq_map|epcr
STS: PMC15397P1|-|271279|na|na|epcr
COMP: 3785|14|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=14&MAPS=genes-r-org/rat-chr/human%3A14,genes-r-org/mouse-chr/human%3A14,genes-r-org/human-chr14&query=e%3A207[id]+AND+gene[obj_type]&QSTR=akt1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Murine thymoma viral (v-akt) oncogene homolog-1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=368861
UNIGENE: Hs.368861
OMIM: 164730
ECNUM: 2.7.1.37
MAP: 14q32.32|HUGO|C|14q32.32|HUGO|C|
MAPLINK: default_human_gene|AKT1
REL2: 155871|NP_057853|Tat, p14|upregulates|NP_005154|serine/threonine protein kinase|HIV-1 Tat upregulates several anti-apoptotic genes, including AKT-1, AKT-2, BCL2, BCL-XL, and insulin-like growth factor I in vincristine-treated Kaposi's sarcoma cells|11994280
REL2: 155871|NP_057853|Tat, p14|activates|NP_005154|serine/threonine protein kinase|HIV-1 Tat downregulates CREB transcription factor expression in PC12 neuronal cells through activation of a phosphatidylinositol 3-kinase/AKT/cyclic nucleoside phosphodiesterase pathway|11156964
REL2: 155871|NP_057853|Tat, p14|activates|NP_005154|serine/threonine protein kinase|HIV-1 Tat activates AKT kinase through activation of PI3 kinase, resulting in the protection of cells from apoptosis|11994280,11156964,9394803
PHENOTYPE: Schizophrenia, susceptibility to
PHENOTYPE_ID: 181500
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=207
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=207[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118989
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005163
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005163
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+207
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+207
DB_DESCR: KEGG pathway: Jak-STAT signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04630+207
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+207
DB_DESCR: KEGG pathway: Inositol phosphate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00562+207
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+207
DB_DESCR: KEGG pathway: Integrin-mediated cell adhesion
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04510+207
DB_DESCR: KEGG pathway: Toll-like receptor signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04620+207
DB_DESCR: KEGG pathway: Benzoate degradation via CoA ligation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00632+207
DB_DESCR: KEGG pathway: Nicotinate and nicotinamide metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00760+207
PMID: 15060171,15047604,15026145,14985374,14755253,14749367,14742298,14702039,14679206,14657000,14647146,14645242,14625285,14623889,14568991,14560023,14534536,14523021,14520710,12972603,12952968,12888921,12874217,12808093,12808085,12791994,12783873,12782295,12768030,12727836,12722480,12687010,12592338,12529294,12527373,12477932,12446787,12446767,12393747,12244303,12244302,12244301,12218048,12176338,12167717,12149249,12112022,12070137,12042314,12011046,11994280,11960368,11956222,11923280,11902142,11828257,11825911,11598301,11156964,10958679,10748004,10570282,10376603,10376602,10102273,9394803,9019819,9005852,7774014,3384441,3037531,1851997,1718748,1533586
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|G-protein coupled receptor protein signaling pathway|TAS|GO:0007186|GOA|10570282
GO: biological process|anti-apoptosis|TAS|GO:0006916|GOA|10748004
GO: biological process|nitric oxide biosynthesis|TAS|GO:0006809|GOA|10376602
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|receptor signaling protein serine/threonine kinase activity|NR|GO:0004702|GOA|na
GO: biological process|response to heat|TAS|GO:0009408|GOA|10958679
GO: biological process|signal transduction|TAS|GO:0007165|GOA|10570282,10748004
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>208
LOCUSID: 208
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001626|6715585|na
NP: NP_001617|4502023
CDD: smart00233: Pleckstrin homology domain|22714|152|na|6.285930e+01
CDD: KOG0690: Serine/threonine protein kinase [Signal transduction mechanisms]|18484|2270|na|8.785750e+02
CDD: KOG0598: Ribosomal protein S6 kinase and related proteins [General function prediction only, Signal transduction mechanisms]|18393|1061|na|4.127580e+02
PRODUCT: v-akt murine thymoma viral oncogene homolog 2
ASSEMBLY: M77198,M95936
CONTIG: NT_011109.15|29800594|na|13007934|13059414|-|19|reference
EVID: supported by alignment with mRNA
XM: NM_001626|6715585|na
XP: NP_001617|4502023|na
ACCNUM: AK054771|16549378|na|na|na
TYPE: m
ACCNUM: AK055779|16550593|na|na|na
TYPE: m
ACCNUM: BC022779|18490785|na|na|na
TYPE: m
PROT: AAH22779|18490786|1
ACCNUM: M77198|337490|na|na|na
TYPE: m
PROT: AAA36585|337491|1
ACCNUM: M95936|178325|na|na|na
TYPE: m
PROT: AAA58364|178326|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P31751|1170703|0
OFFICIAL_SYMBOL: AKT2
OFFICIAL_GENE_NAME: v-akt murine thymoma viral oncogene homolog 2
ALIAS_SYMBOL: PRKBB
ALIAS_SYMBOL: PKBBETA
ALIAS_SYMBOL: RAC-BETA
PREFERRED_PRODUCT: v-akt murine thymoma viral oncogene homolog 2
SUMMARY: Summary: AKT2 is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. Furthermore, AKT2 was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression of AKT2 contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. AKT2 is a general protein kinase capable of phophorylating several known proteins.
CHR: 19
STS: SGC30851|19|8286|na|na|epcr
COMP: 20392|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A208[id]+AND+gene[obj_type]&QSTR=akt2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: rac protein kinase beta
ALIAS_PROT: Murine thymoma viral (v-akt) homolog-2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=326445
UNIGENE: Hs.326445
OMIM: 164731
ECNUM: 2.7.1.-
MAP: 19q13.1-q13.2|RefSeq|C|
MAPLINK: default_human_gene|AKT2
REL2: 155871|NP_057853|Tat, p14|upregulates|NP_001617|v-akt murine thymoma viral oncogene homolog 2|HIV-1 Tat upregulates several anti-apoptotic genes, including AKT-1, AKT-2, BCL2, BCL-XL, and insulin-like growth factor I in vincristine-treated Kaposi's sarcoma cells|11994280
REL2: 155871|NP_057853|Tat, p14|activates|NP_001617|v-akt murine thymoma viral oncogene homolog 2|HIV-1 Tat downregulates CREB transcription factor expression in PC12 neuronal cells through activation of a phosphatidylinositol 3-kinase/AKT/cyclic nucleoside phosphodiesterase pathway|11156964
REL2: 155871|NP_057853|Tat, p14|activates|NP_001617|v-akt murine thymoma viral oncogene homolog 2|HIV-1 Tat activates AKT kinase through activation of PI3 kinase, resulting in the protection of cells from apoptosis|11994280,11156964,9394803
PHENOTYPE: Ovarian carcinoma
PHENOTYPE_ID: 167000
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=208
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=208[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:135660
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001626
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001626
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+208
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+208
DB_DESCR: KEGG pathway: Jak-STAT signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04630+208
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+208
DB_DESCR: KEGG pathway: Inositol phosphate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00562+208
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+208
DB_DESCR: KEGG pathway: Integrin-mediated cell adhesion
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04510+208
DB_DESCR: KEGG pathway: Porphyrin and chlorophyll metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00860+208
DB_DESCR: KEGG pathway: Toll-like receptor signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04620+208
DB_DESCR: KEGG pathway: Benzoate degradation via CoA ligation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00632+208
DB_DESCR: KEGG pathway: Nicotinate and nicotinamide metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00760+208
PMID: 15166380,15111130,14735903,14702039,14699494,14637151,14612499,14504284,12808085,12733712,12697749,12663464,12545160,12517798,12517337,12482965,12480711,12114503,12048203,11994280,11948187,11156964,9394803,8622988,3037531,1801921,1409633
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|protein serine/threonine kinase activity|TAS|GO:0004674|GOA|1409633
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>209
LOCUSID: 209
CURRENT_LOCUSID: 412
ORGANISM: Homo sapiens
>>210
LOCUSID: 210
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000031|38569424|na
NP: NP_000022|34577066
CDD: KOG2794: Delta-aminolevulinic acid dehydratase [Coenzyme transport and metabolism]|20580|1403|na|5.445410e+02
PRODUCT: delta-aminolevulinic acid dehydratase
ASSEMBLY: AU279870,BC000977,BX494400,M13928
CONTIG: NT_008470.16|37540590|na|17806332|17821302|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_000031|38569424|na
XP: NP_000022|34577066|na
ACCNUM: AY319481|32165617|na|na|na
TYPE: g
PROT: AAP72012|32165618|1
ACCNUM: X64467|28579|na|na|na
TYPE: g
PROT: CAA45796|28580|1
ACCNUM: AK131490|47077494|na|na|na
TYPE: m
PROT: BAD18635|47077495|1
ACCNUM: AU279870|28299097|na|na|na
TYPE: m
ACCNUM: BC000977|34192221|na|na|na
TYPE: m
PROT: AAH00977|34192222|2
ACCNUM: BX494400|32007811|na|na|na
TYPE: m
ACCNUM: M13928|178328|na|na|na
TYPE: m
PROT: AAA51687|178329|1
ACCNUM: S99468|248838|na|na|na
TYPE: m
PROT: AAC60581|248839|1
ACCNUM: S99471|248840|na|na|na
TYPE: m
PROT: AAC60582|248841|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P13716|122833|0
OFFICIAL_SYMBOL: ALAD
OFFICIAL_GENE_NAME: aminolevulinate, delta-, dehydratase
ALIAS_SYMBOL: ALADH
ALIAS_SYMBOL: MGC5057
PREFERRED_PRODUCT: delta-aminolevulinic acid dehydratase
SUMMARY: Summary: The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria.
CHR: 9
STS: RH71467|9|3529|na|seq_map|epcr
STS: RH67978|9|87815|na|seq_map|epcr
COMP: 16|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A210[id]+AND+gene[obj_type]&QSTR=alad&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: porphobilinogen synthase
ALIAS_PROT: aminolevulinate dehydratase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1227
UNIGENE: Hs.1227
OMIM: 125270
ECNUM: 4.2.1.24
MAP: 9q34|RefSeq|C|
MAPLINK: default_human_gene|ALAD
PHENOTYPE: Lead poisoning, susceptibility to
PHENOTYPE_ID: 125270
PHENOTYPE: Porphyria, acute hepatic
PHENOTYPE_ID: 125270
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=210
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=210[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119665
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000031
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000031
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=125270
DB_DESCR: KEGG pathway: Porphyrin and chlorophyll metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00860+210
PMID: 12878157,12477932,12469218,11909869,11444968,8188255,3758678,3463993,3036687,2063868,1569184
GO: biological process|heme biosynthesis|TAS|GO:0006783|GOA|3758678
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: molecular function|porphobilinogen synthase activity|TAS|GO:0004655|GOA|3463993
>>211
LOCUSID: 211
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_000688|40316942|na
NP: NP_000679|4502025
CDD: pfam00155: Aminotransferase class I and II|16647|402|na|1.590020e+02
CDD: pfam02490: Aminolevulinic acid synthase domain|9419|301|na|1.199780e+02
CDD: COG0156: 7-keto-8-aminopelargonate synthetase and related enzymes [Coenzyme metabolism]|10031|926|na|3.607260e+02
PRODUCT: aminolevulinate, delta, synthase 1
ASSEMBLY: AU279391,BC011798,CD014147,X56351
NM: NM_199166|40316938|na
NP: NP_954635|40316939
CDD: pfam00155: Aminotransferase class I and II|16647|402|na|1.590020e+02
CDD: pfam02490: Aminolevulinic acid synthase domain|9419|301|na|1.199780e+02
CDD: COG0156: 7-keto-8-aminopelargonate synthetase and related enzymes [Coenzyme metabolism]|10031|926|na|3.607260e+02
PRODUCT: aminolevulinate, delta, synthase 1
ASSEMBLY: BM546974,BU173391,X56351
CONTIG: NT_022517.16|37550163|na|52155585|52171812|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_000688|40316942|na
XP: NP_000679|4502025|na
EVID: supported by alignment with mRNA
XM: NM_199166|40316938|na
XP: NP_954635|40316939|na
ACCNUM: AB063322|21104487|na|na|na
TYPE: m
PROT: BAB93514|21104488|1
ACCNUM: AU279391|28298618|na|na|na
TYPE: m
ACCNUM: BC011798|33877783|na|na|na
TYPE: m
PROT: AAH11798|15080030|1
ACCNUM: BM546974|18780375|na|na|na
TYPE: m
ACCNUM: BU173391|22687375|na|na|na
TYPE: m
ACCNUM: CD014147|37777675|na|na|na
TYPE: m
ACCNUM: X56351|28582|na|na|na
TYPE: m
PROT: CAA39794|28583|1
ACCNUM: Y00451|36648|na|na|na
TYPE: m
PROT: CAA68506|599830|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P13196|122824|0
OFFICIAL_SYMBOL: ALAS1
OFFICIAL_GENE_NAME: aminolevulinate, delta-, synthase 1
ALIAS_SYMBOL: ALAS
ALIAS_SYMBOL: ALAS3
ALIAS_SYMBOL: ALASH
PREFERRED_PRODUCT: aminolevulinate, delta, synthase 1
CHR: 3
STS: RH69932|3|3329|na|seq_map|epcr
STS: RH77906|3|40822|na|seq_map|epcr
STS: SHGC-31564|3|70364|na|seq_map|epcr
STS: GDB:273584|3|156360|na|seq_map|epcr
COMP: 32479|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A211[id]+AND+gene[obj_type]&QSTR=alas1&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511918
UNIGENE: Hs.511918
OMIM: 125290
ECNUM: 2.3.1.37
MAP: 3p21.1|RefSeq|C|
MAPLINK: default_human_gene|ALAS1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=211
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=211[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120543
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000688
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000688
DB_DESCR: KEGG pathway: Glycine, serine and threonine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00260+211
PMID: 12878157,12477932,12433930,11929048,11929042,7698013,3671094,2347585,2263504
GO: molecular function|5-aminolevulinate synthase activity|IEA|GO:0003870|GOA|na
GO: molecular function|acyltransferase activity|IEA|GO:0008415|GOA|na
GO: biological process|biosynthesis|IEA|GO:0009058|GOA|na
GO: biological process|heme biosynthesis|TAS|GO:0006783|GOA|2347585
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: molecular function|transaminase activity|IEA|GO:0008483|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>212
LOCUSID: 212
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000032|4557298|na
NP: NP_000023|4557299
CDD: KOG1360: 5-aminolevulinate synthase [Coenzyme transport and metabolism]|19149|2371|na|9.174720e+02
PRODUCT: aminolevulinate, delta-, synthase 2
ASSEMBLY: X56352,X60364
CONTIG: NT_011630.14|37546193|na|2589578|2611497|-|X|reference
EVID: supported by alignment with mRNA
XM: NM_000032|4557298|na
XP: NP_000023|4557299|na
ACCNUM: AF068624|3220248|na|na|na
TYPE: g
PROT: AAC39838|3220249|1
ACCNUM: BC030230|34192145|na|na|na
TYPE: m
PROT: AAH30230|20988820|1
ACCNUM: X56352|28585|na|na|na
TYPE: m
PROT: CAA39795|28586|1
ACCNUM: X60364|28587|na|na|na
TYPE: m
PROT: CAA42916|28588|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P22557|20141346|0
OFFICIAL_SYMBOL: ALAS2
OFFICIAL_GENE_NAME: aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
ALIAS_SYMBOL: ASB
ALIAS_SYMBOL: ANH1
PREFERRED_PRODUCT: aminolevulinate, delta-, synthase 2
SUMMARY: Summary: The nuclear ALAS2 gene specifies an erythroid-specific mitochondrially located enzyme.  The ALAS2 gene product catalyzes the first step in the heme biosynthetic pathway.  A second delta-aminolevulinate synthase gene (ALAS1)is located on chromosome 3 and is expressed in all tissues. A defective ALAS2 gene causes X-linked pyridoxine-responsive sideroblastic anemia (Hypochromic Anemia).
CHR: X
STS: WI-12678|X|15052|na|seq_map|epcr
STS: RH16577|X|27882|na|seq_map|epcr
STS: RH94266|-|90022|na|na|epcr
COMP: 17|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A212[id]+AND+gene[obj_type]&QSTR=alas2&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440455
UNIGENE: Hs.440455
OMIM: 301300
ECNUM: 2.3.1.37
MAP: Xp11.21|HUGO|C|
MAPLINK: default_human_gene|ALAS2
PHENOTYPE: Anemia, sideroblastic/hypochromic
PHENOTYPE_ID: 301300
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=212
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=212[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119666
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119666.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000032
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000032
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=301300
DB_DESCR: KEGG pathway: Glycine, serine and threonine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00260+212
DB_DESCR: Integrated X Chromosome Database (IXDB)
DB_LINK: http://ixdb.mpimg-berlin-dahlem.mpg.de/bin/ixdbcmd.cgi?cmd=showObj&id=537101
PMID: 12663458,12477932,12031592,2347585,2263504,2050125,1577484
GO: molecular function|5-aminolevulinate synthase activity|IEA|GO:0003870|GOA|na
GO: molecular function|acyltransferase activity|IEA|GO:0008415|GOA|na
GO: biological process|biosynthesis|IEA|GO:0009058|GOA|na
GO: biological process|heme biosynthesis|IEA|GO:0006783|GOA|2347585
GO: biological process|heme biosynthesis|TAS|GO:0006783|GOA|2347585
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: molecular function|transaminase activity|IEA|GO:0008483|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>213
LOCUSID: 213
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000477|8392890|na
NP: NP_000468|4502027
CDD: smart00103: serum albumin|22681|499|na|1.963030e+02
PRODUCT: albumin precursor
ASSEMBLY: M12523,V00495
CONTIG: NT_006216.14|29791409|na|2777016|2794142|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_000477|8392890|na
XP: NP_000468|4502027|na
ACCNUM: M12523|178343|na|na|na
TYPE: g
PROT: AAA98797|178344|1
PROT: AAA98798|178345|1
ACCNUM: M13075|178330|na|na|na
TYPE: g
PROT: AAA51688|553173|1
ACCNUM: S69192|546032|na|na|na
TYPE: g
PROT: AAB30282|546033|1
ACCNUM: S70799|547231|na|na|na
TYPE: g
PROT: AAB31177|547232|1
ACCNUM: AF116645|7959790|na|na|na
TYPE: m
PROT: AAF71067|7959791|1
ACCNUM: AF130077|11493458|na|na|na
TYPE: m
PROT: AAG35503|11493459|1
ACCNUM: AF190168|6013426|na|na|na
TYPE: m
PROT: AAF01333|6013427|1
ACCNUM: AF542069|23307792|na|na|na
TYPE: m
PROT: AAN17825|23307793|1
ACCNUM: BC014308|15679995|na|na|na
TYPE: m
PROT: AAH14308|15679996|1
ACCNUM: BC034023|21706455|na|na|na
TYPE: m
PROT: AAH34023|21706456|1
ACCNUM: BC034026|21706470|na|na|na
TYPE: m
ACCNUM: BC035969|23241674|na|na|na
TYPE: m
PROT: AAH35969|23241675|1
ACCNUM: BC036003|23243417|na|na|na
TYPE: m
PROT: AAH36003|23243418|1
ACCNUM: BC039235|25058738|na|na|na
TYPE: m
PROT: AAH39235|25058739|1
ACCNUM: BC041789|27692692|na|na|na
TYPE: m
PROT: AAH41789|27692693|1
ACCNUM: V00494|28589|na|na|na
TYPE: m
PROT: CAA23753|28590|1
ACCNUM: V00495|28591|na|na|na
TYPE: m
PROT: CAA23754|28592|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02768|113576|0
ACCNUM: A06977|412162|na|na|na
TYPE: r
PROT: CAA00606|412163|1
OFFICIAL_SYMBOL: ALB
OFFICIAL_GENE_NAME: albumin
ALIAS_SYMBOL: PRO0883
PREFERRED_PRODUCT: albumin precursor
SUMMARY: Summary: Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume. Mutations in this gene on chromosome 4 result in various anomalous proteins. Albumin is a globular unglycosylated serum protein of molecular weight 65,000. The human albumin gene is 16,961 nucleotides long from the putative 'cap' site to the first poly(A) addition site. It is split into 15 exons which are symmetrically placed within the 3 domains that are thought to have arisen by triplication of a single primordial domain. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin.
CHR: 4
STS: D4S2818|4|21848|D4S2818|na|epcr
COMP: 405|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A213[id]+AND+gene[obj_type]&QSTR=alb&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: PRO0883 protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418167
UNIGENE: Hs.418167
OMIM: 103600
MAP: 4q11-q13|HUGO|C|
MAPLINK: default_human_gene|ALB
REL2: 155871|NP_057853|Tat, p14|induces|NP_000468|albumin precursor|HIV-1 Tat induces a dose-dependent flux of albumin through endothelial cell monolayers, an effect involving Tat activation of the VEGF receptor type 2 and MAP kinase|11145723,10780709
PHENOTYPE: Analbuminemia
PHENOTYPE_ID: 103600
PHENOTYPE: Dysalbuminemic hyperthyroxinemia
PHENOTYPE_ID: 103600
PHENOTYPE: Dysalbuminemic hyperzincemia
PHENOTYPE_ID: 194470
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=213
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=213[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118990
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000477
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000477
DB_DESCR: Albumin Website
DB_LINK: http://www.albumin.org
PMID: 14726550,14687905,14520007,13677478,12970360,12969171,12815038,12617161,12480711,12477932,12118010,12009306,11931649,11906609,11847277,11810025,11743713,11734007,11689002,11145723,10940303,10780709,10388840,9731778,8134387,8064810,8022807,6275391,6171778,3009475,2914956,2419329
GO: molecular function|antioxidant activity|NAS|GO:0016209|GOA|14726550
GO: biological process|body fluid osmoregulation|NAS|GO:0050891|GOA|na
GO: molecular function|carrier activity|IEA|GO:0005386|GOA|na
GO: molecular function|copper ion binding|NAS|GO:0005507|GOA|14726550
GO: molecular function|drug binding|NAS|GO:0008144|GOA|10940303
GO: cellular component|extracellular space|IEA|GO:0005615|GOA|na
GO: molecular function|fatty acid binding|NAS|GO:0005504|GOA|9731778
GO: biological process|negative regulation of non-apoptotic programmed cell death|NAS|GO:0043072|GOA|14726550
GO: biological process|transport|IEA|GO:0006810|GOA|8064810
GO: biological process|transport|TAS|GO:0006810|GOA|8064810
GO: molecular function|water binding|NAS|GO:0050824|GOA|na
GO: biological process|water homeostasis|NAS|GO:0030104|GOA|na
>>214
LOCUSID: 214
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001627|4502028|na
NP: NP_001618|4502029
CDD: smart00409: Immunoglobulin|22788|95|na|4.088450e+01
CDD: KOG3513: Neural cell adhesion molecule L1 [Signal transduction mechanisms]|21297|103|na|4.379500e+01
CDD: KOG3515: Predicted transmembrane protein of the immunoglobulin family of cell adhesion molecules [General function prediction only]|21299|134|na|5.581570e+01
PRODUCT: activated leukocyte cell adhesion molecule
ASSEMBLY: L38608
CONTIG: NT_005612.14|37550867|na|11581336|11789165|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_001627|4502028|na
XP: NP_001618|4502029|na
ACCNUM: AK054632|16549213|na|na|na
TYPE: m
ACCNUM: AK127617|34534607|na|na|na
TYPE: m
PROT: BAC87059|34534608|1
ACCNUM: AL833702|21734351|na|na|na
TYPE: m
ACCNUM: L38608|886257|na|na|na
TYPE: m
PROT: AAB59499|886258|1
ACCNUM: Y10183|3183974|na|na|na
TYPE: m
PROT: CAA71256|3183975|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13740|2497297|0
OFFICIAL_SYMBOL: ALCAM
OFFICIAL_GENE_NAME: activated leukocyte cell adhesion molecule
ALIAS_SYMBOL: MEMD
ALIAS_SYMBOL: CD166
PREFERRED_PRODUCT: activated leukocyte cell adhesion molecule
CHR: 3
STS: SHGC-35488|3|23711|na|seq_map|epcr
STS: STS-W51882|3|25470|na|seq_map|epcr
STS: WIAF-1714|3|53373|na|seq_map|epcr
STS: D3S4183|3|83048|D3S4183|seq_map|epcr
STS: G59557|3|136861|na|seq_map|epcr
STS: ALCAM_699|-|276986|na|na|epcr
COMP: 1229|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A214[id]+AND+gene[obj_type]&QSTR=alcam&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: activated leucocyte cell adhesion molecule
ALIAS_PROT: activated leukocyte-cell adhesion molecule
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=10247
UNIGENE: Hs.10247
OMIM: 601662
MAP: 3q13.1|RefSeq|C|
MAPLINK: default_human_gene|ALCAM
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=214
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=214[loc]&TAXID=9606
BUTTON: prow.gif
LINK: http://www.ncbi.nlm.nih.gov/prow/guide/1844846226_g.htm
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5659998
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001627
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001627
PMID: 15140234,14702039,12843199,12481253,9502422,7760007
GO: biological process|antimicrobial humoral response (sensu Vertebrata)|NR|GO:0019735|GOA|na
GO: biological process|cell adhesion|TAS|GO:0007155|GOA|7760007
GO: cellular component|integral to plasma membrane|NR|GO:0005887|GOA|na
GO: cellular component|membrane fraction|NR|GO:0005624|GOA|na
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
GO: molecular function|receptor binding|TAS|GO:0005102|GOA|7760007
GO: biological process|signal transduction|TAS|GO:0007165|GOA|7760007
>>215
LOCUSID: 215
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000033|7262392|na
NP: NP_000024|7262393
CDD: pfam00005: ABC transporter|16577|285|na|1.138490e+02
CDD: KOG0064: Peroxisomal long-chain acyl-CoA transporter, ABC superfamily [Lipid transport and metabolism]|17862|2776|na|1.073440e+03
PRODUCT: ATP-binding cassette, sub-family D (ALD), member 1
ASSEMBLY: Z21876,Z31348
CONTIG: NT_025965.12|37546492|na|342311|362156|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_000033|7262392|na
XP: NP_000024|7262393|na
ACCNUM: Z31348|479149|na|na|na
TYPE: g
PROT: CAA83230|1340149|1
ACCNUM: BC015541|15930220|na|na|na
TYPE: m
PROT: AAH15541|15930221|1
ACCNUM: BC025358|19263734|na|na|na
TYPE: m
PROT: AAH25358|19263735|1
ACCNUM: Z21876|38590|na|na|na
TYPE: m
PROT: CAA79922|38591|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P33897|461500|0
OFFICIAL_SYMBOL: ABCD1
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family D (ALD), member 1
ALIAS_SYMBOL: ALD
ALIAS_SYMBOL: AMN
ALIAS_SYMBOL: ALDP
ALIAS_SYMBOL: ABC42
PREFERRED_PRODUCT: ATP-binding cassette, sub-family D (ALD), member 1
SUMMARY: Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.
CHR: X
STS: GDB:376627|-|157057|na|na|epcr
STS: GDB:376680|-|157058|na|na|epcr
STS: GDB:376683|X|157059|na|seq_map|epcr
STS: GDB:523970|X|157541|na|seq_map|epcr
STS: GDB:524010|X|157542|na|seq_map|epcr
STS: GDB:524013|-|157543|na|na|epcr
STS: GDB:524016|-|157544|na|na|epcr
STS: GDB:524019|-|157545|na|na|epcr
STS: GDB:524020|-|157546|na|na|epcr
STS: GDB:524023|-|157547|na|na|epcr
STS: GDB:572900|-|157780|na|na|epcr
COMP: 18|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A215[id]+AND+gene[obj_type]&QSTR=abcd1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adrenoleukodystrophy
ALIAS_PROT: adrenoleukodystrophy protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159546
UNIGENE: Hs.159546
OMIM: 300371
MAP: Xq28|HUGO|C|
MAPLINK: default_human_gene|ABCD1
PHENOTYPE: Adrenoleukodystrophy
PHENOTYPE_ID: 300100
PHENOTYPE: Adrenomyeloneuropathy
PHENOTYPE_ID: 300100
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=215
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=215[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118991
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118991.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000033
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000033
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.152+OR+mono_001.section.204+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=300100
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=300371
DB_DESCR: Genes and Disease
DB_LINK: http://www.ncbi.nlm.nih.gov/disease/ALD.html
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
DB_DESCR: Mutation Database for X-linked Adrenoleukodystrophy
DB_LINK: http://www.x-ald.nl/
DB_DESCR: Integrated X Chromosome Database (IXDB)
DB_LINK: http://ixdb.mpimg-berlin-dahlem.mpg.de/bin/ixdbcmd.cgi?cmd=showObj&id=523501
PMID: 14767898,14556192,12624723,12579499,12530690,12509471,12477932,12210797,12175782,11992258,11438993,10551832,9286695,9195223,8520725,8507690,8441467,8004093,7959759,7825602,1746561
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|ATP-binding cassette (ABC) transporter activity|NAS|GO:0004009|GOA|8441467
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|integral to peroxisomal membrane|NAS|GO:0005779|GOA|8441467
GO: biological process|peroxisomal membrane transport|NAS|GO:0015919|GOA|8441467
GO: cellular component|peroxisome|IEA|GO:0005777|GOA|na
GO: biological process|peroxisome organization and biogenesis|NAS|GO:0007031|GOA|8441467
GO: biological process|transport|IEA|GO:0006810|GOA|na
GO: molecular function|transporter activity|NAS|GO:0005215|GOA|8441467
>>216
LOCUSID: 216
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000689|25777722|na
NP: NP_000680|21361176
CDD: pfam00171: Aldehyde dehydrogenase family|22934|1688|na|6.542170e+02
PRODUCT: aldehyde dehydrogenase 1A1
ASSEMBLY: BC001505,BG773210
CONTIG: NT_023935.16|37539725|na|4680119|4732501|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_000689|25777722|na
XP: NP_000680|21361176|na
ACCNUM: AY338497|32815081|na|na|na
TYPE: g
PROT: AAP88039|32815082|1
ACCNUM: M31994|178370|na|na|na
TYPE: g
PROT: AAA51692|178372|1
ACCNUM: S61235|300399|na|na|na
TYPE: g
PROT: AAD13925|4261625|1
ACCNUM: AF003341|2183298|na|na|na
TYPE: m
PROT: AAC51652|2183299|1
ACCNUM: AK000118|7019997|na|na|na
TYPE: m
ACCNUM: AK026641|10439538|na|na|na
TYPE: m
ACCNUM: AY390731|40807655|na|na|na
TYPE: m
PROT: AAR92229|40807656|1
ACCNUM: BC001505|37589018|na|na|na
TYPE: m
PROT: AAH01505|16306661|1
ACCNUM: BG773210|14083863|na|na|na
TYPE: m
ACCNUM: BT006921|30582680|na|na|na
TYPE: m
PROT: AAP35567|30582681|1
ACCNUM: K03000|178399|na|na|na
TYPE: m
PROT: AAA51695|178400|1
ACCNUM: M26761|178393|na|na|na
TYPE: m
PROT: AAA35518|178394|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P00352|118495|0
OFFICIAL_SYMBOL: ALDH1A1
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 1 family, member A1
ALIAS_SYMBOL: ALDC
ALIAS_SYMBOL: ALDH1
ALIAS_SYMBOL: PUMB1
ALIAS_SYMBOL: ALDH11
ALIAS_SYMBOL: RALDH1
ALIAS_SYMBOL: ALDH-E1
ALIAS_SYMBOL: MGC2318
PREFERRED_PRODUCT: aldehyde dehydrogenase 1A1
SUMMARY: Summary: This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes a cytosolic isoform, which has a high affinity for aldehydes.
CHR: 9
STS: HUM00D1B06|9|41862|na|seq_map|epcr
STS: SHGC-80901|-|102540|na|na|epcr
COMP: 20173|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A216[id]+AND+gene[obj_type]&QSTR=aldh1a1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ALDH class 1
ALIAS_PROT: retinal dehydrogenase 1
ALIAS_PROT: acetaldehyde dehydrogenase 1
ALIAS_PROT: aldehyde dehydrogenase 1, soluble
ALIAS_PROT: aldehyde dehydrogenase, liver cytosolic
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76392
UNIGENE: Hs.76392
OMIM: 100640
ECNUM: 1.2.1.3
MAP: 9q21.13|RefSeq|C|
MAPLINK: default_human_gene|ALDH1A1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=216
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=216[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119667
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000689
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000689
DB_DESCR: KEGG pathway: Lysine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00310+216
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+216
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+216
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+216
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+216
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+216
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+216
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+216
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+216
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+216
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+216
DB_DESCR: KEGG pathway: 1,2-Dichloroethane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00631+216
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+216
DB_DESCR: KEGG pathway: Limonene and pinene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00903+216
DB_DESCR: KEGG pathway: Ascorbate and aldarate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00053+216
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+216
PMID: 14678778,14506398,12477932,12174908,9240474,8493914,8214422,6723659,4015823,3676276,3397064,3013004,2987944,2591967,1709013
GO: molecular function|aldehyde dehydrogenase (NAD) activity|TAS|GO:0004029|GOA|1709013
GO: biological process|aldehyde metabolism|TAS|GO:0006081|GOA|1709013
GO: molecular function|androgen binding|TAS|GO:0005497|GOA|1709013
GO: cellular component|cytosol|NR|GO:0005829|GOA|na
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|1709013
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>217
LOCUSID: 217
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000690|25777731|na
NP: NP_000681|25777732
CDD: KOG2450: Aldehyde dehydrogenase [Energy production and conversion]|20236|1945|na|7.532130e+02
PRODUCT: mitochondrial aldehyde dehydrogenase 2 precursor
ASSEMBLY: AH002599,BC002967
CONTIG: NT_009775.14|37544143|na|2723088|2766526|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_000690|25777731|na
XP: NP_000681|25777732|na
ACCNUM: AF164120|5726484|na|na|na
TYPE: g
PROT: AAD48447|5726485|1
ACCNUM: M20444|178376|na|na|na
TYPE: g
PROT: AAA51693|178390|1
ACCNUM: M20456|178388|na|na|na
TYPE: g
PROT: AAA51693|178390|1
ACCNUM: AY621070|48256838|na|na|na
TYPE: m
PROT: AAT41621|48256839|1
ACCNUM: BC002967|12804216|na|na|na
TYPE: m
PROT: AAH02967|12804217|1
ACCNUM: BC071839|48735315|na|na|na
TYPE: m
PROT: AAH71839|48735316|1
ACCNUM: CR456991|48146098|na|na|na
TYPE: m
PROT: CAG33272|48146099|1
ACCNUM: K03001|178395|na|na|na
TYPE: m
PROT: AAB59500|178396|1
ACCNUM: M26760|178397|na|na|na
TYPE: m
PROT: AAA51694|178398|1
ACCNUM: M54931|178391|na|na|na
TYPE: m
PROT: AAA62825|178392|1
ACCNUM: X05409|28605|na|na|na
TYPE: m
PROT: CAA28990|28606|1
ACCNUM: Y00109|28607|na|na|na
TYPE: m
PROT: CAA68290|28608|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05091|118504|0
OFFICIAL_SYMBOL: ALDH2
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 2 family (mitochondrial)
ALIAS_SYMBOL: ALDM
ALIAS_SYMBOL: ALDHI
ALIAS_SYMBOL: ALDH-E2
ALIAS_SYMBOL: MGC1806
PREFERRED_PRODUCT: mitochondrial aldehyde dehydrogenase 2 precursor
SUMMARY: Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix.
CHR: 12
STS: D12S1884|12|45202|D12S1884|seq_map|epcr
COMP: 20174|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A217[id]+AND+gene[obj_type]&QSTR=aldh2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ALDH class 2
ALIAS_PROT: liver mitochondrial ALDH
ALIAS_PROT: acetaldehyde dehydrogenase 2
ALIAS_PROT: nucleus-encoded mitochondrial aldehyde dehydrogenase 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=331141
UNIGENE: Hs.331141
OMIM: 100650
ECNUM: 1.2.1.3
MAP: 12q24.2|HUGO|C|
MAPLINK: default_human_gene|ALDH2
PHENOTYPE: ?Fetal alcohol syndrome
PHENOTYPE_ID: 100650
PHENOTYPE: Alcohol intolerance, acute
PHENOTYPE_ID: 100650
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=217
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=217[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119668
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119668.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000690
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000690
DB_DESCR: KEGG pathway: Lysine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00310+217
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+217
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+217
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+217
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+217
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+217
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+217
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+217
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+217
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+217
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+217
DB_DESCR: KEGG pathway: 1,2-Dichloroethane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00631+217
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+217
DB_DESCR: KEGG pathway: Limonene and pinene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00903+217
DB_DESCR: KEGG pathway: Ascorbate and aldarate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00053+217
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+217
DB_DESCR: PharmGKB: PA24696
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24696
PMID: 15126281,15122947,15084894,14506613,14506399,12554615,12484509,12477932,12452318,12198369,12198368,12010862,11798074,10631996,8903321,4065146,4015823,3610592,3582651,3562250,3017845,2987944,2838413,2562960,1306115
GO: biological process|alcohol metabolism|TAS|GO:0006066|GOA|1306115
GO: molecular function|aldehyde dehydrogenase (NAD) activity|TAS|GO:0004029|GOA|1306115
GO: molecular function|aldehyde dehydrogenase [NAD(P)+] activity|TAS|GO:0004030|GOA|8903321
GO: biological process|carbohydrate metabolism|TAS|GO:0005975|GOA|8903321
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|8903321
GO: cellular component|mitochondrion|NR|GO:0005739|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>218
LOCUSID: 218
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000691|22907048|na
NP: NP_000682|22907049
CDD: KOG2456: Aldehyde dehydrogenase [Energy production and conversion]|20242|1782|na|6.904810e+02
PRODUCT: aldehyde dehydrogenase 3 family, member A1
ASSEMBLY: BC004370,M74542
CONTIG: NT_030843.7|37544716|na|501583|511894|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_000691|22907048|na
XP: NP_000682|22907049|na
ACCNUM: AK091272|21749603|na|na|na
TYPE: m
ACCNUM: AK093755|21752682|na|na|na
TYPE: m
ACCNUM: AK093877|21752822|na|na|na
TYPE: m
PROT: BAC04239|21752823|1
ACCNUM: BC004102|33871062|na|na|na
TYPE: m
PROT: AAH04102|33871063|1
ACCNUM: BC004370|13325113|na|na|na
TYPE: m
PROT: AAH04370|13325114|1
ACCNUM: BC008892|38197098|na|na|na
TYPE: m
PROT: AAH08892|14286196|1
ACCNUM: BC021194|38114638|na|na|na
TYPE: m
PROT: AAH21194|18203695|1
ACCNUM: BT007102|30583042|na|na|na
TYPE: m
PROT: AAP35766|30583043|1
ACCNUM: M74542|178401|na|na|na
TYPE: m
PROT: AAA51696|178402|1
ACCNUM: M77477|178374|na|na|na
TYPE: m
PROT: AAB46377|178375|1
ACCNUM: S61044|300401|na|na|na
TYPE: m
PROT: AAB26658|300402|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P30838|48429222|0
OFFICIAL_SYMBOL: ALDH3A1
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 3 family, memberA1
ALIAS_SYMBOL: ALDH3
ALIAS_SYMBOL: ALDHIII
ALIAS_SYMBOL: MGC10406
PREFERRED_PRODUCT: aldehyde dehydrogenase 3 family, member A1
SUMMARY: Summary: Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic aldehyde substrates. The gene is located within the Smith-Magenis syndrome region on chromosome 17.
CHR: 17
STS: WI-9090|17|48521|na|seq_map|epcr
STS: RH11444|17|52248|na|na|epcr
COMP: 20175|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A218[id]+AND+gene[obj_type]&QSTR=aldh3a1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ALDH, stomach type
ALIAS_PROT: acetaldehyde dehydrogenase
ALIAS_PROT: aldehyde dehydrogenase, dimeric NADP-preferring
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=575
UNIGENE: Hs.575
OMIM: 100660
ECNUM: 1.2.1.5
MAP: 17p11.2|RefSeq|C|
MAPLINK: default_human_gene|ALDH3A1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=218
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=218[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118992
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000691
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000691
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+218
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+218
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+218
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+218
PMID: 14702039,12943535,12477932,12367788,10780262,9027499,8493892,7774944,7228061,4073832,2037078,1737758,1306115
GO: molecular function|aldehyde dehydrogenase [NAD(P)+] activity|IEA|GO:0004030|GOA|na
GO: biological process|aldehyde metabolism|TAS|GO:0006081|GOA|1737758
GO: biological process|carbohydrate metabolism|TAS|GO:0005975|GOA|1737758
GO: cellular component|cytosol|NR|GO:0005829|GOA|na
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|1737758
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>219
LOCUSID: 219
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000692|25777729|na
NP: NP_000683|25777730
CDD: KOG2450: Aldehyde dehydrogenase [Energy production and conversion]|20236|1859|na|7.200860e+02
PRODUCT: aldehyde dehydrogenase 1B1 precursor
ASSEMBLY: BC001619,BE889810
CONTIG: NT_008413.16|37540361|na|38382702|38388658|+|9|reference
EVID: supported by alignment with mRNA
XM: NM_000692|25777729|na
XP: NP_000683|25777730|na
ACCNUM: AL135785|10803183|na|na|na
TYPE: g
PROT: CAD13246|17384406|1
ACCNUM: M63967|337184|na|na|na
TYPE: g
PROT: AAA96830|1263008|1
ACCNUM: BC001619|12804426|na|na|na
TYPE: m
PROT: AAH01619|12804427|1
ACCNUM: BE889810|10347504|na|na|na
TYPE: m
ACCNUM: BT007418|30583674|na|na|na
TYPE: m
PROT: AAP36086|30583675|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P30837|399363|0
OFFICIAL_SYMBOL: ALDH1B1
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 1 family, member B1
ALIAS_SYMBOL: ALDH5
ALIAS_SYMBOL: ALDHX
ALIAS_SYMBOL: MGC2230
PREFERRED_PRODUCT: aldehyde dehydrogenase 1B1 precursor
SUMMARY: Summary: This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems.
CHR: 9
STS: STS-R93551|9|18384|na|seq_map|epcr
STS: STS-M63967|9|40323|na|seq_map|epcr
STS: GDB:280628|9|156379|na|seq_map|epcr
STS: ALDH1B1_1553|-|276988|na|na|epcr
COMP: 557|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A219[id]+AND+gene[obj_type]&QSTR=aldh1b1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ALDH class 2
ALIAS_PROT: aldehyde dehydrogenase 5
ALIAS_PROT: acetaldehyde dehydrogenase 5
ALIAS_PROT: mitochondrial aldehyde dehydrogenase X
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436219
UNIGENE: Hs.436219
OMIM: 100670
ECNUM: 1.2.1.3
MAP: 9p11.1|RefSeq|C|
MAPLINK: default_human_gene|ALDH1B1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=219
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=219[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128788
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000692
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000692
DB_DESCR: KEGG pathway: Lysine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00310+219
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+219
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+219
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+219
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+219
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+219
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+219
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+219
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+219
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+219
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+219
DB_DESCR: KEGG pathway: 1,2-Dichloroethane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00631+219
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+219
DB_DESCR: KEGG pathway: Limonene and pinene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00903+219
DB_DESCR: KEGG pathway: Ascorbate and aldarate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00053+219
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+219
PMID: 12477932,8244338,7774944,2061311,1306115
GO: molecular function|aldehyde dehydrogenase (NAD) activity|IEA|GO:0004029|GOA|na
GO: biological process|carbohydrate metabolism|NR|GO:0005975|GOA|1306115
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>220
LOCUSID: 220
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000693|4502040|na
NP: NP_000684|4502041
CDD: KOG2450: Aldehyde dehydrogenase [Energy production and conversion]|20236|1934|na|7.489760e+02
PRODUCT: aldehyde dehydrogenase 1A3
ASSEMBLY: U07919
CONTIG: NT_035325.5|37541078|na|2861798|2898566|+|15|reference
EVID: supported by alignment with mRNA
XM: NM_000693|4502040|na
XP: NP_000684|4502041|na
ACCNUM: AL110109|5791557|na|na|na
TYPE: m
ACCNUM: BC009245|14328064|na|na|na
TYPE: m
PROT: AAH09245|14328065|1
ACCNUM: BC069274|46621669|na|na|na
TYPE: m
PROT: AAH69274|46621670|1
ACCNUM: BX538027|31874127|na|na|na
TYPE: m
PROT: CAD97973|31874128|1
ACCNUM: U07919|995897|na|na|na
TYPE: m
PROT: AAA79036|544482|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P47895|1352246|0
OFFICIAL_SYMBOL: ALDH1A3
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 1 family, member A3
ALIAS_SYMBOL: ALDH6
ALIAS_SYMBOL: RALDH3
ALIAS_SYMBOL: ALDH1A6
PREFERRED_PRODUCT: aldehyde dehydrogenase 1A3
SUMMARY: Summary: Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene for this human isozyme spans about 37 kb and consists of 13 exons. It is expressed at low levels in many tissues and at higher levels in salivary gland, stomach and kidney. The major transcript is approximately 3.5 kb; however, there is a less abundant transcript that is smaller by 111 bp in the 3' non-coding region and uses an alternative polyadenylation signal. The significance of alternative splicing of this gene is currently unclear.
CHR: 15
STS: RH66397|15|28838|na|seq_map|epcr
STS: D15S1345|15|45142|D15S1345|seq_map|epcr
COMP: 20176|15|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=15&MAPS=genes-r-org/rat-chr/human%3A15,genes-r-org/mouse-chr/human%3A15,genes-r-org/human-chr15&query=e%3A220[id]+AND+gene[obj_type]&QSTR=aldh1a3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aldehyde dehydrogenase 6
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75746
UNIGENE: Hs.75746
OMIM: 600463
ECNUM: 1.2.1.5
MAP: 15q26.3|RefSeq|C|
MAPLINK: default_human_gene|ALDH1A3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=220
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=220[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:364103
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000693
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000693
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+220
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+220
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+220
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+220
PMID: 12477932,9490025,7698756
GO: biological process|alcohol metabolism|TAS|GO:0006066|GOA|7698756
GO: molecular function|aldehyde dehydrogenase [NAD(P)+] activity|IEA|GO:0004030|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|7698756
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>221
LOCUSID: 221
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000694|4502042|na
NP: NP_000685|4502043
CDD: KOG2456: Aldehyde dehydrogenase [Energy production and conversion]|20242|2003|na|7.756100e+02
PRODUCT: aldehyde dehydrogenase 3B1
ASSEMBLY: U10868
CONTIG: NT_033903.6|37541191|na|12950859|12969783|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_000694|4502042|na
XP: NP_000685|4502043|na
ACCNUM: BC002553|33876856|na|na|na
TYPE: m
PROT: AAH02553|12803457|1
ACCNUM: BC013584|34783192|na|na|na
TYPE: m
PROT: AAH13584|15488911|1
ACCNUM: BC014168|40225985|na|na|na
TYPE: m
PROT: AAH14168|40225986|2
ACCNUM: BC019911|22507445|na|na|na
TYPE: m
ACCNUM: BC033099|21620103|na|na|na
TYPE: m
PROT: AAH33099|21620104|1
ACCNUM: BT009832|32880006|na|na|na
TYPE: m
PROT: AAP88834|32880007|1
ACCNUM: U10868|601779|na|na|na
TYPE: m
PROT: AAA83428|601780|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P43353|1169285|0
OFFICIAL_SYMBOL: ALDH3B1
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 3 family, member B1
ALIAS_SYMBOL: ALDH4
ALIAS_SYMBOL: ALDH7
PREFERRED_PRODUCT: aldehyde dehydrogenase 3B1
SUMMARY: Summary: The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular gene spans about 20 kb of genomic DNA and is composed of 9 coding exons. The gene encodes a single transcript of 2.8 kb which is highly expressed in kidney and lung. The functional significance of this gene as well as the cellular localization of its product are presently unknown.
CHR: 11
STS: RH69713|11|42320|na|seq_map|epcr
COMP: 20177|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A221[id]+AND+gene[obj_type]&QSTR=aldh3b1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aldehyde dehydrogenase 7
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274235
UNIGENE: Hs.274235
OMIM: 600466
ECNUM: 1.2.1.5
MAP: 11q13|HUGO|C|
MAPLINK: default_human_gene|ALDH3B1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=221
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=221[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:309335
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000694
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000694
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+221
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+221
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+221
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+221
PMID: 12477932,9490025,9161417,7828891
GO: biological process|alcohol metabolism|TAS|GO:0006066|GOA|7828891
GO: molecular function|aldehyde dehydrogenase [NAD(P)+] activity|IEA|GO:0004030|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|7828891
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>222
LOCUSID: 222
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000695|4580414|na
NP: NP_000686|4502045
CDD: KOG2456: Aldehyde dehydrogenase [Energy production and conversion]|20242|1614|na|6.257670e+02
PRODUCT: aldehyde dehydrogenase 3B2
ASSEMBLY: U37519
CONTIG: NT_033903.6|37541191|na|12602679|12615107|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_000695|4580414|na
XP: NP_000686|4502045|na
ACCNUM: AK092464|21751067|na|na|na
TYPE: m
PROT: BAC03897|21751068|1
ACCNUM: BC007685|33873725|na|na|na
TYPE: m
PROT: AAH07685|14043388|1
ACCNUM: BT006810|30582458|na|na|na
TYPE: m
PROT: AAP35456|30582459|1
ACCNUM: U37519|1051280|na|na|na
TYPE: m
PROT: AAA85441|1051281|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P48448|1352247|0
OFFICIAL_SYMBOL: ALDH3B2
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 3 family, member B2
ALIAS_SYMBOL: ALDH8
PREFERRED_PRODUCT: aldehyde dehydrogenase 3B2
SUMMARY: Summary: The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular family member is over 10 kb in length and consists of at least 10 exons. Although the gene is highly homologous to closely related family members, an earlier in-frame stop codon suggests several possibilities. It could represent a nonprocessed pseudogene, a functional gene where the premature stop codon is suppressed, or a gene product where a downstream in-frame ATG serves as the initiator codon. The expression of these transcripts is restricted to the salivary gland among the human tissues examined.
CHR: 11
STS: RH47695|11|30447|na|seq_map|epcr
STS: RH18048|11|46034|na|seq_map|epcr
STS: RH121969|11|94868|na|seq_map|epcr
COMP: 20178|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A222[id]+AND+gene[obj_type]&QSTR=aldh3b2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aldehyde dehydrogenase 8
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=87539
UNIGENE: Hs.87539
OMIM: 601917
ECNUM: 1.2.1.5
MAP: 11q13|HUGO|C|
MAPLINK: default_human_gene|ALDH3B2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=222
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=222[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:1220125
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000695
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000695
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+222
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+222
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+222
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+222
PMID: 14702039,12477932,9161417,8890755,7484374
GO: biological process|alcohol metabolism|TAS|GO:0006066|GOA|8890755
GO: molecular function|aldehyde dehydrogenase [NAD(P)+] activity|IEA|GO:0004030|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|8890755
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>223
LOCUSID: 223
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000696|25777738|na
NP: NP_000687|25777739
CDD: KOG2450: Aldehyde dehydrogenase [Energy production and conversion]|20236|1497|na|5.806440e+02
PRODUCT: aldehyde dehydrogenase 9A1
ASSEMBLY: U34252
CONTIG: NT_004668.16|37548668|na|4136925|4173572|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_000696|25777738|na
XP: NP_000687|25777739|na
ACCNUM: AF172093|7248635|na|na|na
TYPE: m
PROT: AAF43600|7248636|1
ACCNUM: BC011410|15030274|na|na|na
TYPE: m
ACCNUM: BC070030|47124035|na|na|na
TYPE: m
PROT: AAH70030|47124036|1
ACCNUM: U34252|1049218|na|na|na
TYPE: m
PROT: AAB18827|1049219|1
ACCNUM: U50203|1354221|na|na|na
TYPE: m
PROT: AAB06721|1354222|1
ACCNUM: X75425|435486|na|na|na
TYPE: m
PROT: CAA53176|435487|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P49189|1706390|0
OFFICIAL_SYMBOL: ALDH9A1
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 9 family, member A1
ALIAS_SYMBOL: E3
ALIAS_SYMBOL: ALDH4
ALIAS_SYMBOL: ALDH7
ALIAS_SYMBOL: ALDH9
ALIAS_SYMBOL: TMABADH
PREFERRED_PRODUCT: aldehyde dehydrogenase 9A1
SUMMARY: Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits.
CHR: 1
STS: WI-12686|1|6667|na|na|epcr
STS: D1S3343|1|8469|D1S3343|seq_map|epcr
STS: WI-9287|1|36298|na|na|epcr
COMP: 559|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A223[id]+AND+gene[obj_type]&QSTR=aldh9a1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aldehyde dehydrogenase (NAD+)
ALIAS_PROT: aldehyde dehydrogenase E3 isozyme
ALIAS_PROT: R-aminobutyraldehyde dehydrogenase
ALIAS_PROT: gamma-aminobutyraldehyde dehydrogenase
ALIAS_PROT: 4-trimethylaminobutyraldehyde dehydrogenase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2533
UNIGENE: Hs.2533
OMIM: 602733
ECNUM: 1.2.1.3
ECNUM: 1.2.1.19
ECNUM: 1.2.1.47
MAP: 1q23.1|RefSeq|C|
MAPLINK: default_human_gene|ALDH9A1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=223
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=223[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:1220126
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000696
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000696
DB_DESCR: KEGG pathway: Lysine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00310+223
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+223
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+223
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+223
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+223
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+223
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+223
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+223
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+223
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+223
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+223
DB_DESCR: KEGG pathway: 1,2-Dichloroethane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00631+223
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+223
DB_DESCR: KEGG pathway: Limonene and pinene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00903+223
DB_DESCR: KEGG pathway: Ascorbate and aldarate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00053+223
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+223
PMID: 12477932,10702312,8786138,8645224,8269919,8112751,2925663
GO: molecular function|aldehyde dehydrogenase (NAD) activity|IEA|GO:0004029|GOA|na
GO: biological process|aldehyde metabolism|TAS|GO:0006081|GOA|8645224
GO: molecular function|aminobutyraldehyde dehydrogenase activity|IEA|GO:0019145|GOA|na
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|2925663
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>224
LOCUSID: 224
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000382|4557302|na
NP: NP_000373|4557303
CDD: KOG2456: Aldehyde dehydrogenase [Energy production and conversion]|20242|1849|na|7.162890e+02
PRODUCT: aldehyde dehydrogenase 3A2
ASSEMBLY: L47162,U46689
CONTIG: NT_030843.7|37544716|na|412377|441190|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_000382|4557302|na
XP: NP_000373|4557303|na
ACCNUM: U75286|1666516|na|na|na
TYPE: g
PROT: AAC50966|1666530|1
ACCNUM: U75295|1666525|na|na|na
TYPE: g
PROT: AAC50965|1666529|1
ACCNUM: U75296|1666526|na|na|na
TYPE: g
PROT: AAC50966|1666530|1
ACCNUM: AK025677|10438271|na|na|na
TYPE: m
ACCNUM: BC002430|37589857|na|na|na
TYPE: m
PROT: AAH02430|12803235|1
ACCNUM: CR457422|48146960|na|na|na
TYPE: m
PROT: CAG33703|48146961|1
ACCNUM: L47162|1082035|na|na|na
TYPE: m
PROT: AAB01003|1082036|1
ACCNUM: U46689|1870243|na|na|na
TYPE: m
PROT: AAC51121|1870244|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P51648|1706379|0
OFFICIAL_SYMBOL: ALDH3A2
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 3 family, member A2
ALIAS_SYMBOL: SLS
ALIAS_SYMBOL: FALDH
ALIAS_SYMBOL: ALDH10
PREFERRED_PRODUCT: aldehyde dehydrogenase 3A2
SUMMARY: Summary: Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome.
CHR: 17
STS: RH64993|17|719|na|seq_map|epcr
STS: SGC31627|17|11539|na|seq_map|epcr
STS: RH66582|17|75771|na|seq_map|epcr
STS: RH75646|17|92215|na|seq_map|epcr
COMP: 20116|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A224[id]+AND+gene[obj_type]&QSTR=aldh3a2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aldehyde dehydrogenase 10
ALIAS_PROT: fatty aldehyde dehydrogenase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440662
UNIGENE: Hs.440662
OMIM: 270200
ECNUM: 1.2.1.3
MAP: 17p11.2|RefSeq|C|
MAPLINK: default_human_gene|ALDH3A2
PHENOTYPE: Sjogren-Larsson syndrome
PHENOTYPE_ID: 270200
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=224
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=224[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:1316855
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/555939.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000382
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000382
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=270200
DB_DESCR: KEGG pathway: Lysine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00310+224
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+224
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+224
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+224
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+224
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+224
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+224
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+224
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+224
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+224
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+224
DB_DESCR: KEGG pathway: 1,2-Dichloroethane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00631+224
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+224
DB_DESCR: KEGG pathway: Limonene and pinene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00903+224
DB_DESCR: KEGG pathway: Ascorbate and aldarate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00053+224
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+224
PMID: 12477932,9070922,9027499,8528251,7894487,7485163
GO: molecular function|aldehyde dehydrogenase (NAD) activity|IEA|GO:0004029|GOA|na
GO: biological process|central nervous system development|TAS|GO:0007417|GOA|8528251
GO: cellular component|endoplasmic reticulum|IEA|GO:0005783|GOA|na
GO: biological process|epidermis development|TAS|GO:0008544|GOA|8528251
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|8528251
GO: cellular component|microsome|IEA|GO:0005792|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: biological process|peripheral nervous system development|TAS|GO:0007422|GOA|8528251
>>225
LOCUSID: 225
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005164|21536379|na
NP: NP_005155|9945308
CDD: pfam00005: ABC transporter|16577|293|na|1.169310e+02
CDD: KOG0064: Peroxisomal long-chain acyl-CoA transporter, ABC superfamily [Lipid transport and metabolism]|17862|2921|na|1.129290e+03
CDD: COG1134: ABC-type polysaccharide/polyol phosphate transport system, ATPase component [Carbohydrate transport and metabolism / Cell envelope biogenesis, outer membrane]|10854|94|na|4.020040e+01
PRODUCT: ATP-binding cassette, sub-family D, member 2
ASSEMBLY: AH007710
CONTIG: NT_029419.10|29803948|na|2089852|2157276|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_005164|21536379|na
XP: NP_005155|9945308|na
ACCNUM: AF119822|4836428|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119823|4836429|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119824|4836430|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119825|4836432|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119826|4836431|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119827|4836433|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119828|4836434|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119829|4836435|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119830|4836436|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: AF119831|4836437|na|na|na
TYPE: g
PROT: AAD30439|4836439|1
ACCNUM: U28150|1326075|na|na|na
TYPE: g
PROT: AAB00541|1326076|1
ACCNUM: AJ000327|2584766|na|na|na
TYPE: m
PROT: CAA03994|2584767|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q9UBJ2|12643305|0
OFFICIAL_SYMBOL: ABCD2
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family D (ALD), member 2
ALIAS_SYMBOL: ALDR
ALIAS_SYMBOL: ABC39
ALIAS_SYMBOL: ALDL1
ALIAS_SYMBOL: ALDRP
PREFERRED_PRODUCT: ATP-binding cassette, sub-family D, member 2
SUMMARY: Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis.
CHR: 12
COMP: 3786|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A225[id]+AND+gene[obj_type]&QSTR=abcd2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: hALDR
ALIAS_PROT: adrenoleukodystrophy-like 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=117852
UNIGENE: Hs.117852
OMIM: 601081
MAP: 12q11-q12|RefSeq|C|
MAPLINK: default_human_gene|ABCD2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=225
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=225[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:7171009
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005164
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005164
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.204+OR+mono_001.table.145+OR+mono_001.table.155
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
PMID: 11883941,10777694,10551832,10329405,10196381,9345306,9195160,8577752
GO: molecular function|ATP binding|TAS|GO:0005524|GOA|10329405
GO: molecular function|ATP-binding cassette (ABC) transporter activity|TAS|GO:0004009|GOA|10196381
GO: biological process|fatty acid metabolism|TAS|GO:0006631|GOA|10329405
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|10329405
GO: cellular component|peroxisome|TAS|GO:0005777|GOA|10329405
GO: biological process|transport|TAS|GO:0006810|GOA|10329405
>>226
LOCUSID: 226
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000034|34577108|na
NP: NP_000025|4557305
CDD: KOG1557: Fructose-biphosphate aldolase [Carbohydrate transport and metabolism]|19345|1526|na|5.919200e+02
PRODUCT: aldolase A
TRANSVAR: Transcript Variant: This variant (1) represents the longest transcript variant.
ASSEMBLY: BC004333
NM: NM_184041|34577109|na
NP: NP_908930|34577110
CDD: KOG1557: Fructose-biphosphate aldolase [Carbohydrate transport and metabolism]|19345|1526|na|5.919200e+02
PRODUCT: aldolase A
TRANSVAR: Transcript Variant: This variant (2) contains multiple differences in the 5' UTR, compared to transcript variant 1.
ASSEMBLY: BC016800,BQ719865
NM: NM_184043|34577111|na
NP: NP_908932|34577112
CDD: KOG1557: Fructose-biphosphate aldolase [Carbohydrate transport and metabolism]|19345|1526|na|5.919200e+02
PRODUCT: aldolase A
TRANSVAR: Transcript Variant: This variant (3) contains multiple differences in the 5' UTR, compared to transcript variant 1.
ASSEMBLY: BC016800,BE893518,CB151262
CONTIG: NT_024812.10|29809804|na|1465735|1482979|+|16|reference
EVID: supported by alignment with mRNA
XM: NM_000034|34577108|na
XP: NP_000025|4557305|na
EVID: supported by alignment with mRNA
XM: NM_184041|34577109|na
XP: NP_908930|34577110|na
EVID: supported by alignment with mRNA
XM: NM_184043|34577111|na
XP: NP_908932|34577112|na
ACCNUM: X06352|28594|na|na|na
TYPE: g
PROT: CAA29654|28595|1
ACCNUM: X12447|28613|na|na|na
TYPE: g
PROT: CAA30979|28614|1
ACCNUM: AK026577|10439461|na|na|na
TYPE: m
ACCNUM: AK098778|21758895|na|na|na
TYPE: m
ACCNUM: BC000367|38197497|na|na|na
TYPE: m
PROT: AAH00367|38197498|2
ACCNUM: BC004333|13279256|na|na|na
TYPE: m
PROT: AAH04333|13279257|1
ACCNUM: BC010660|14715000|na|na|na
TYPE: m
PROT: AAH10660|14715001|1
ACCNUM: BC012880|15277570|na|na|na
TYPE: m
PROT: AAH12880|15277571|1
ACCNUM: BC013614|15488980|na|na|na
TYPE: m
PROT: AAH13614|15488981|1
ACCNUM: BC015888|34190680|na|na|na
TYPE: m
PROT: AAH15888|16198435|1
ACCNUM: BC016170|16740580|na|na|na
TYPE: m
PROT: AAH16170|16740581|1
ACCNUM: BC016800|16877048|na|na|na
TYPE: m
PROT: AAH16800|16877049|1
ACCNUM: BE893518|10354954|na|na|na
TYPE: m
ACCNUM: BQ719865|21858762|na|na|na
TYPE: m
ACCNUM: BX647566|34366723|na|na|na
TYPE: m
ACCNUM: CB151262|28135390|na|na|na
TYPE: m
ACCNUM: CR536528|49168539|na|na|na
TYPE: m
PROT: CAG38765|49168540|1
ACCNUM: CR541880|49456714|na|na|na
TYPE: m
PROT: CAG46678|49456715|1
ACCNUM: M11560|178350|na|na|na
TYPE: m
PROT: AAA51690|178351|1
ACCNUM: M21190|178403|na|na|na
TYPE: m
PROT: AAA51697|178404|1
ACCNUM: X05236|28596|na|na|na
TYPE: m
PROT: CAA28861|28597|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P04075|113606|0
OFFICIAL_SYMBOL: ALDOA
OFFICIAL_GENE_NAME: aldolase A, fructose-bisphosphate
ALIAS_SYMBOL: ALDA
ALIAS_SYMBOL: MGC10942
ALIAS_SYMBOL: MGC17716
ALIAS_SYMBOL: MGC17767
PREFERRED_PRODUCT: aldolase A
SUMMARY: Summary: This gene product, Aldolase A (fructose-bisphosphate aldolase) is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants which encode the same protein.
CHR: 16
STS: D10S2367|16|9614|D10S2367|seq_map|epcr
STS: RH80798|16|86437|na|seq_map|epcr
STS: RH47250|-|89094|na|na|epcr
STS: RH67859|16|89367|na|seq_map|epcr
STS: GDB:451697|-|157349|na|na|epcr
ALIAS_PROT: fructose-bisphosphate aldolase
ALIAS_PROT: Aldolase A, fructose-bisphosphatase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=273415
UNIGENE: Hs.273415
OMIM: 103850
ECNUM: 4.1.2.13
MAP: 16q22-q24|RefSeq|C|
MAPLINK: default_human_gene|ALDOA
PHENOTYPE: Aldolase A deficiency
PHENOTYPE_ID: 103850
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=226
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=226[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118993
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000034
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000034
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=103850
DB_DESCR: KEGG pathway: Carbon fixation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00710+226
DB_DESCR: KEGG pathway: Pentose phosphate pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00030+226
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+226
DB_DESCR: KEGG pathway: Fructose and mannose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00051+226
PMID: 12477932,8598869,3840020,3674018,3441006,3391172,3030757,2825199
GO: biological process|fructose metabolism|TAS|GO:0006000|GOA|2825199
GO: molecular function|fructose-bisphosphate aldolase activity|TAS|GO:0004332|GOA|2825199
GO: biological process|glycolysis|TAS|GO:0006096|GOA|2825199
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: biological process|striated muscle contraction|TAS|GO:0006941|GOA|8598869
>>227
LOCUSID: 227
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALDOAP1
OFFICIAL_GENE_NAME: aldolase A, fructose-bisphosphate pseudogene 1
CHR: 3
MAP: 3|RefSeq|C|
MAPLINK: default_human_cyto|ALDOAP1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118994
>>228
LOCUSID: 228
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
ACCNUM: M21191|178405|na|na|na
TYPE: m
OFFICIAL_SYMBOL: ALDOAP2
OFFICIAL_GENE_NAME: aldolase A, fructose-bisphosphate pseudogene 2
CHR: 10
MAP: 10q26.2|RefSeq|C|
MAPLINK: default_human_cyto|ALDOAP2
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118995
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=M21191
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M21191
PMID: 3674018
>>229
LOCUSID: 229
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000035|40354204|na
NP: NP_000026|40354205
CDD: KOG1557: Fructose-biphosphate aldolase [Carbohydrate transport and metabolism]|19345|1505|na|5.838310e+02
PRODUCT: aldolase B
ASSEMBLY: AV645373,AV656265,BG616536,X02747
CONTIG: NT_008470.16|37540590|na|5845186|5859633|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_000035|40354204|na
XP: NP_000026|40354205|na
ACCNUM: D00183|219451|na|na|na
TYPE: g
PROT: BAA00125|2160383|1
ACCNUM: M15656|178355|na|na|na
TYPE: g
PROT: AAA51691|178357|1
ACCNUM: AK026411|10439268|na|na|na
TYPE: m
ACCNUM: AV645373|9866387|na|na|na
TYPE: m
ACCNUM: AV656265|9877279|na|na|na
TYPE: m
ACCNUM: BC029399|20809494|na|na|na
TYPE: m
PROT: AAH29399|20809495|1
ACCNUM: BG616536|13667907|na|na|na
TYPE: m
ACCNUM: X00270|28611|na|na|na
TYPE: m
PROT: CAA25072|563884|1
ACCNUM: X01098|28419|na|na|na
TYPE: m
PROT: CAA25572|28420|1
ACCNUM: X02747|28616|na|na|na
TYPE: m
PROT: CAA26526|28617|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05062|113611|0
OFFICIAL_SYMBOL: ALDOB
OFFICIAL_GENE_NAME: aldolase B, fructose-bisphosphate
PREFERRED_PRODUCT: aldolase B
SUMMARY: Summary:  Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13 ) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes.  The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C.  Defects in ALDOB cause heriditary fructose intolerance.
CHR: 9
STS: D9S2043|-|36853|D9S2043|na|epcr
STS: RH11595|9|67180|na|seq_map|epcr
STS: G54142|9|109379|na|seq_map|epcr
COMP: 20060|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A229[id]+AND+gene[obj_type]&QSTR=aldob&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aldolase 2
ALIAS_PROT: aldolase B, fructose-bisphosphatase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=315235
UNIGENE: Hs.315235
OMIM: 229600
ECNUM: 4.1.2.13
MAP: 9q21.3-q22.2|RefSeq|C|
MAPLINK: default_human_gene|ALDOB
PHENOTYPE: Fructose intolerance
PHENOTYPE_ID: 229600
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=229
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=229[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119669
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000035
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000035
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=229600
DB_DESCR: KEGG pathway: Carbon fixation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00710+229
DB_DESCR: KEGG pathway: Pentose phosphate pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00030+229
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+229
DB_DESCR: KEGG pathway: Fructose and mannose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00051+229
DB_DESCR: Hereditary Fructose Intolerance/Aldolase
DB_LINK: http://bio.bu.edu/~vfunari/
PMID: 14966907,12477932,12464284,12417303,11752456,6689266,6585824,6548561,3383242,3016456,3000275,2830249,2410860
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|3383242
GO: biological process|fructose metabolism|TAS|GO:0006000|GOA|3383242
GO: molecular function|fructose-bisphosphate aldolase activity|TAS|GO:0004332|GOA|3383242
GO: biological process|glycolysis|TAS|GO:0006096|GOA|3383242
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
>>230
LOCUSID: 230
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_005165|4885062|na
NP: NP_005156|4885063
CDD: KOG1557: Fructose-biphosphate aldolase [Carbohydrate transport and metabolism]|19345|1504|na|5.834460e+02
PRODUCT: aldolase C, fructose-bisphosphate
ASSEMBLY: AF054987
CONTIG: NT_010799.14|37544509|na|1637132|1640856|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_005165|4885062|na
XP: NP_005156|4885063|na
ACCNUM: X05196|28598|na|na|na
TYPE: g
PROT: CAA28825|28599|1
ACCNUM: X07292|28600|na|na|na
TYPE: g
PROT: CAA30270|312137|1
ACCNUM: AF054987|3005697|na|na|na
TYPE: m
PROT: AAC09348|3005698|1
ACCNUM: BC003613|33869379|na|na|na
TYPE: m
PROT: AAH03613|33869380|2
ACCNUM: BC065565|41351363|na|na|na
TYPE: m
PROT: AAH65565|41351364|1
ACCNUM: BT007006|30582850|na|na|na
TYPE: m
PROT: AAP35652|30582851|1
ACCNUM: CR541862|49456678|na|na|na
TYPE: m
PROT: CAG46660|49456679|1
ACCNUM: CR541881|49456716|na|na|na
TYPE: m
PROT: CAG46679|49456717|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P09972|113613|0
OFFICIAL_SYMBOL: ALDOC
OFFICIAL_GENE_NAME: aldolase C, fructose-bisphosphate
ALIAS_SYMBOL: ALDC
PREFERRED_PRODUCT: aldolase C, fructose-bisphosphate
CHR: 17
COMP: 21073|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A230[id]+AND+gene[obj_type]&QSTR=aldoc&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Aldolase C, fructose-bisphosphatase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155247
UNIGENE: Hs.155247
OMIM: 103870
ECNUM: 4.1.2.13
MAP: 17cen-q12|RefSeq|C|
MAPLINK: default_human_gene|ALDOC
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=230
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=230[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119670
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005165
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005165
DB_DESCR: KEGG pathway: Carbon fixation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00710+230
DB_DESCR: KEGG pathway: Pentose phosphate pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00030+230
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+230
DB_DESCR: KEGG pathway: Fructose and mannose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00051+230
PMID: 12477932,9110174,8619474,3674018,3105602,2731939
GO: biological process|fructose metabolism|TAS|GO:0006000|GOA|3105602
GO: molecular function|fructose-bisphosphate aldolase activity|TAS|GO:0004332|GOA|3105602
GO: biological process|glycolysis|IEA|GO:0006096|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
>>231
LOCUSID: 231
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001628|24497579|na
NP: NP_001619|4502049
CDD: KOG1577: Aldo/keto reductase family proteins [General function prediction only]|19365|1031|na|4.012580e+02
PRODUCT: aldo-keto reductase family 1, member B1
ASSEMBLY: BC000260
CONTIG: NT_007933.13|37538784|na|59165410|59182191|-|7|reference
EVID: supported by alignment with mRNA
XM: NM_001628|24497579|na
XP: NP_001619|4502049|na
CONTIG: NT_079596.1|37539429|na|33507594|33524374|-|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001628|24497579|na
XP: NP_001619|4502049|na
ACCNUM: AF032455|2687577|na|na|na
TYPE: g
PROT: AAB88851|2687578|1
ACCNUM: M34721|179037|na|na|na
TYPE: g
PROT: AAA35561|179038|1
ACCNUM: M59783|178483|na|na|na
TYPE: g
PROT: AAA51712|178485|1
ACCNUM: AF328729|22854563|na|na|na
TYPE: m
PROT: AAN09721|22854564|1
ACCNUM: AL833410|21734049|na|na|na
TYPE: m
ACCNUM: BC000260|12652998|na|na|na
TYPE: m
PROT: AAH00260|12652999|1
ACCNUM: BC005387|13529256|na|na|na
TYPE: m
PROT: AAH05387|13529257|1
ACCNUM: BC010391|14714516|na|na|na
TYPE: m
PROT: AAH10391|14714517|1
ACCNUM: CR450351|47496648|na|na|na
TYPE: m
PROT: CAG29347|47496649|1
ACCNUM: CR542203|49457401|na|na|na
TYPE: m
PROT: CAG47000|49457402|1
ACCNUM: J04795|178486|na|na|na
TYPE: m
PROT: AAA51713|178487|1
ACCNUM: J05017|178488|na|na|na
TYPE: m
PROT: AAA51714|178489|1
ACCNUM: J05474|178490|na|na|na
TYPE: m
PROT: AAA51715|178491|1
ACCNUM: M34720|179035|na|na|na
TYPE: m
PROT: AAA35560|179036|1
ACCNUM: X15414|28646|na|na|na
TYPE: m
PROT: CAA33460|28647|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P15121|113596|0
OFFICIAL_SYMBOL: AKR1B1
OFFICIAL_GENE_NAME: aldo-keto reductase family 1, member B1 (aldose reductase)
ALIAS_SYMBOL: AR
ALIAS_SYMBOL: ADR
ALIAS_SYMBOL: ALDR1
ALIAS_SYMBOL: MGC1804
PREFERRED_PRODUCT: aldo-keto reductase family 1, member B1
SUMMARY: Summary: This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. There are a few putative pseudogenes for this gene, and one of them has been confirmed and mapped to chromosome 3.
CHR: 7
STS: J05017|7|19844|na|na|epcr
STS: GDB:4585363|7|50616|na|seq_map|epcr
STS: WI-18828|7|63334|na|na|epcr
ALIAS_PROT: aldose reductase
ALIAS_PROT: aldehyde reductase 1
ALIAS_PROT: low Km aldose reductase
ALIAS_PROT: Lii5-2 CTCL tumor antigen
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75313
UNIGENE: Hs.75313
OMIM: 103880
ECNUM: 1.1.1.21
MAP: 7q35|HUGO|C|
MAPLINK: default_human_gene|AKR1B1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=231
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=231[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128041
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001628
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001628
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+231
DB_DESCR: KEGG pathway: Galactose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00052+231
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+231
DB_DESCR: KEGG pathway: Fructose and mannose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00051+231
DB_DESCR: KEGG pathway: Pentose and glucuronate interconversions
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00040+231
DB_DESCR: PharmGKB: PA24675
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24675
PMID: 14996095,12660865,12486717,12477932,9405046,9195951,2510130,2504709,2498333,2112546,2111143,1901857,1901827,1621098
GO: molecular function|aldehyde reductase activity|TAS|GO:0004032|GOA|2112546
GO: biological process|carbohydrate metabolism|TAS|GO:0005975|GOA|2112546
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|2112546
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|2112546
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>232
LOCUSID: 232
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALDRL1
OFFICIAL_GENE_NAME: aldehyde reductase (aldose reductase)-like 1
CHR: 1
MAP: 1q32-q42|HUGO|C|
MAPLINK: default_human_cyto|ALDRL1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:131721
PMID: 8244370
>>233
LOCUSID: 233
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALDRL2
OFFICIAL_GENE_NAME: aldehyde reductase (aldose reductase)-like 2
CHR: 9
MAP: 9q22|HUGO|C|
MAPLINK: default_human_cyto|ALDRL2
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:131722
PMID: 12882871,8244370
>>234
LOCUSID: 234
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALDRL3
OFFICIAL_GENE_NAME: aldehyde reductase (aldose reductase)-like 3
CHR: 11
MAP: 11p15-p14|HUGO|C|
MAPLINK: default_human_cyto|ALDRL3
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:131723
PMID: 8244370
>>235
LOCUSID: 235
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALDRL4
OFFICIAL_GENE_NAME: aldehyde reductase (aldose reductase)-like 4
CHR: 13
MAP: 13q14-q21|HUGO|C|
MAPLINK: default_human_cyto|ALDRL4
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:131724
PMID: 8244370
>>236
LOCUSID: 236
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001071|20270459|na|1|1593
CONTIG: NT_022459.13|37549731|na|7879569|7881164|+|3|na
EVID: alignment with NG_001071
XG: NG_001071|20270459|na
ACCNUM: M84454|178406|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ALDRP
OFFICIAL_GENE_NAME: aldehyde reductase (aldose reductase) pseudogene
CHR: 3
MAP: 3p12|HUGO|C|
MAPLINK: default_human_gene|ALDRP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=236
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128834
PMID: 8244370,1612607
>>237
LOCUSID: 237
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with no protein product
ORGANISM: Homo sapiens
ACCNUM: X15584|32020|na|na|na
TYPE: g
ACCNUM: X63773|559447|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ALFN1
OFFICIAL_GENE_NAME: activator of liver function 1 (hepatic phenotype restoration inducing sequence)
ALIAS_SYMBOL: HALF1
CHR: 12
OMIM: 603416
MAP: 12q24.2-q24.3|RefSeq|C|
MAPLINK: default_human_cyto|ALFN1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:433638
PMID: 7940018,1445296
>>238
LOCUSID: 238
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004304|29029631|na
NP: NP_004295|29029632
CDD: pfam00629: MAM domain|23048|215|na|8.698230e+01
CDD: cd00192: Tyrosine kinase, catalytic domain|5392|948|na|3.691290e+02
CDD: KOG1095: Protein tyrosine kinase [Signal transduction mechanisms]|18886|2416|na|9.348510e+02
PRODUCT: anaplastic lymphoma kinase Ki-1
ASSEMBLY: U62540,U66559
CONTIG: NT_022184.13|37547123|na|8231573|8960365|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_004304|29029631|na
XP: NP_004295|29029632|na
ACCNUM: D45915|1483130|na|na|na
TYPE: m
PROT: BAA08343|1483131|1
ACCNUM: U04946|609341|na|na|na
TYPE: m
PROT: AAA58698|609342|1
ACCNUM: U62540|2454167|na|na|na
TYPE: m
PROT: AAB71619|2454168|1
ACCNUM: U66559|1848243|na|na|na
TYPE: m
PROT: AAC51104|1848244|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q9UM73|20137251|0
OFFICIAL_SYMBOL: ALK
OFFICIAL_GENE_NAME: anaplastic lymphoma kinase (Ki-1)
PREFERRED_PRODUCT: anaplastic lymphoma kinase Ki-1
SUMMARY: Summary: The 2;5 chromosomal translocation is frequently associated with anaplastic large cell lymphomas (ALCLs). The translocation creates a fusion gene consisting of the ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half of ALK, derived from chromosome 2, is fused to the 5' portion of NPM from chromosome 5. A recent study shows that the product of the NPM-ALK fusion gene is oncogenic. The deduced amino acid sequences reveal that ALK is a novel receptor protein-tyrosine kinase having a putative transmembrane domain and an extracellular domain. These sequences are absent in the product of the transforming NPM-ALK gene. ALK shows the greatest sequence similarity to LTK (leukocyte tyrosine kinase). ALK plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system.
CHR: 2
STS: RH46935|2|17362|na|na|epcr
STS: RH70535|2|22866|na|seq_map|epcr
COMP: 20907|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A238[id]+AND+gene[obj_type]&QSTR=alk&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: CD246 antigen
ALIAS_PROT: ALK tyrosine kinase receptor precursor
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410680
UNIGENE: Hs.410680
OMIM: 105590
MAP: 2p23|HUGO|C|
MAPLINK: default_human_gene|ALK
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=238
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=238[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:209935
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004304
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004304
PMID: 15161657,14656879,14563642,12800156,12763927,12213716,12185581,12122009,12115586,12112524,12036886,11877285,11809760,11121404,9819383,9490693,9174053,9053841,8633037,8122112
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|N-linked glycosylation|IMP|GO:0006487|GOA|9174053
GO: biological process|cell growth and/or maintenance|IEA|GO:0008151|GOA|na
GO: cellular component|integral to membrane|IPI|GO:0016021|GOA|9174053
GO: biological process|neurogenesis|IMP|GO:0007399|GOA|11121404
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
GO: molecular function|transmembrane receptor protein tyrosine kinase activity|IDA|GO:0004714|GOA|9174053
GO: biological process|transmembrane receptor protein tyrosine kinase signaling pathway|IEA|GO:0007169|GOA|na
>>239
LOCUSID: 239
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_000697|4502050|na
NP: NP_000688|4502051
CDD: pfam00305: Lipoxygenase|6003|1542|na|5.980980e+02
CDD: pfam01477: PLAT/LH2 domain|16967|269|na|1.077590e+02
PRODUCT: arachidonate 12-lipoxygenase
ASSEMBLY: M58704
CONTIG: NT_010718.14|37543500|na|5740409|5755057|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_000697|4502050|na
XP: NP_000688|4502051|na
ACCNUM: M87004|178072|na|na|na
TYPE: g
PROT: AAA51587|178073|1
ACCNUM: AF143883|4895026|na|na|na
TYPE: m
PROT: AAD32700|4895027|1
ACCNUM: BC069557|47479711|na|na|na
TYPE: m
PROT: AAH69557|47479712|1
ACCNUM: M35418|189773|na|na|na
TYPE: m
PROT: AAA60056|189774|1
ACCNUM: M58704|187170|na|na|na
TYPE: m
PROT: AAA59523|187171|1
ACCNUM: M62982|177106|na|na|na
TYPE: m
PROT: AAA51533|177107|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P18054|126400|0
OFFICIAL_SYMBOL: ALOX12
OFFICIAL_GENE_NAME: arachidonate 12-lipoxygenase
ALIAS_SYMBOL: LOG12
PREFERRED_PRODUCT: arachidonate 12-lipoxygenase
CHR: 17
STS: SGC33235|-|40557|na|na|epcr
STS: SHGC-12725|17|67637|na|seq_map|epcr
STS: RH102167|-|96501|na|na|epcr
STS: GDB:607713|-|158269|na|na|epcr
COMP: 560|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A239[id]+AND+gene[obj_type]&QSTR=alox12&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: 12(S)-lipoxygenase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1200
UNIGENE: Hs.1200
OMIM: 152391
ECNUM: 1.13.11.31
MAP: 17p13.1|HUGO|C|
MAPLINK: default_human_gene|ALOX12
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=239
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=239[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127547
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000697
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000697
DB_DESCR: KEGG pathway: Prostaglandin and leukotriene metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00590+239
PMID: 15111312,15010818,14767568,14669797,14532840,12907138,12664578,12664573,12664313,12538614,12477932,11914583,2377602,2244907,2217179,1570320,1447217
GO: molecular function|arachidonate 12-lipoxygenase activity|TAS|GO:0004052|GOA|1447217
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|fatty acid metabolism|TAS|GO:0006631|GOA|1447217
GO: molecular function|iron ion binding|IEA|GO:0005506|GOA|na
GO: biological process|leukotriene biosynthesis|IEA|GO:0019370|GOA|na
GO: molecular function|lipoxygenase activity|IEA|GO:0016165|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>240
LOCUSID: 240
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_000698|4502056|na
NP: NP_000689|4502057
CDD: pfam00305: Lipoxygenase|6003|1574|na|6.104240e+02
CDD: smart00308: Lipoxygenase homology 2 (beta barrel) domain|22753|260|na|1.042110e+02
PRODUCT: arachidonate 5-lipoxygenase
ASSEMBLY: J03600
CONTIG: NT_033985.6|37550981|na|3272999|3344874|+|10|reference
EVID: supported by alignment with mRNA
XM: NM_000698|4502056|na
XP: NP_000689|4502057|na
ACCNUM: J04520|187168|na|na|na
TYPE: g
PROT: AAA59522|187169|1
ACCNUM: M38191|187166|na|na|na
TYPE: g
PROT: AAA63212|187167|1
ACCNUM: J03571|388524|na|na|na
TYPE: m
PROT: AAA65450|388525|1
ACCNUM: J03600|187192|na|na|na
TYPE: m
PROT: AAA36183|187193|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P09917|126407|0
OFFICIAL_SYMBOL: ALOX5
OFFICIAL_GENE_NAME: arachidonate 5-lipoxygenase
ALIAS_SYMBOL: LOG5
PREFERRED_PRODUCT: arachidonate 5-lipoxygenase
CHR: 10
STS: WI-9162|10|78319|na|seq_map|epcr
STS: RH40180|10|87536|na|seq_map|epcr
COMP: 561|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A240[id]+AND+gene[obj_type]&QSTR=alox5&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89499
UNIGENE: Hs.89499
OMIM: 152390
ECNUM: 1.13.11.34
MAP: 10q11.2|HUGO|C|
MAPLINK: default_human_gene|ALOX5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=240
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=240[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132453
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000698
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000698
DB_DESCR: KEGG pathway: Prostaglandin and leukotriene metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00590+240
DB_DESCR: PharmGKB: PA46
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA46
PMID: 15010818,14767568,14749922,14726295,14532840,12907138,12893830,12859962,12751769,12751768,12751728,12730086,12664574,12629151,12525578,12234060,12163367,12140292,11844797,11796736,3422434,2829172,2565035
GO: molecular function|arachidonate 5-lipoxygenase activity|TAS|GO:0004051|GOA|2829172
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|inflammatory response|NR|GO:0006954|GOA|na
GO: molecular function|iron ion binding|IEA|GO:0005506|GOA|na
GO: biological process|leukotriene biosynthesis|IEA|GO:0019370|GOA|na
GO: molecular function|lipoxygenase activity|IEA|GO:0016165|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>241
LOCUSID: 241
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001629|15718674|na
NP: NP_001620|15718675
CDD: pfam01124: MAPEG family|16896|302|na|1.203280e+02
PRODUCT: arachidonate 5-lipoxygenase-activating protein
ASSEMBLY: AH001462
CONTIG: NT_024524.13|37546841|na|12289669|12318556|+|13|reference
EVID: supported by alignment with mRNA
XM: NM_001629|15718674|na
XP: NP_001620|15718675|na
ACCNUM: M60470|182652|na|na|na
TYPE: g
PROT: AAA35845|182658|1
ACCNUM: M63259|182653|na|na|na
TYPE: g
PROT: AAA35845|182658|1
ACCNUM: M63260|182654|na|na|na
TYPE: g
PROT: AAA35845|182658|1
ACCNUM: M63261|182655|na|na|na
TYPE: g
PROT: AAA35845|182658|1
ACCNUM: M63262|182656|na|na|na
TYPE: g
PROT: AAA35845|182658|1
ACCNUM: BC018538|17391274|na|na|na
TYPE: m
PROT: AAH18538|17391275|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P20292|120267|0
OFFICIAL_SYMBOL: ALOX5AP
OFFICIAL_GENE_NAME: arachidonate 5-lipoxygenase-activating protein
ALIAS_SYMBOL: FLAP
PREFERRED_PRODUCT: arachidonate 5-lipoxygenase-activating protein
SUMMARY: Summary: This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation.
CHR: 13
STS: RH121762|-|134912|na|na|epcr
COMP: 1231|13|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=13&MAPS=genes-r-org/rat-chr/human%3A13,genes-r-org/human-chr13&query=e%3A241[id]+AND+gene[obj_type]&QSTR=alox5ap&cmd=focus&fill=10|Rat
ALIAS_PROT: MK-886-binding protein
ALIAS_PROT: five-lipoxygenase activating protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=100194
UNIGENE: Hs.100194
OMIM: 603700
MAP: 13q12|RefSeq|C|
MAPLINK: default_human_gene|ALOX5AP
PHENOTYPE: Myocardial infarction, susceptibility to
PHENOTYPE_ID: 603700
PHENOTYPE: Stroke, susceptibility to
PHENOTYPE_ID: 601367
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=241
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=241[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:7178351
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001629
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001629
DB_DESCR: PharmGKB: PA47
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA47
PMID: 14770184,12629151,12571239,12477932,10036194,8777565,7938075,2300173,1673682
GO: molecular function|binding|TAS|GO:0005488|GOA|2300173
GO: molecular function|enzyme activator activity|TAS|GO:0008047|GOA|2300173
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|2300173
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|leukotriene biosynthesis|IEA|GO:0019370|GOA|na
GO: cellular component|membrane fraction|NR|GO:0005624|GOA|na
>>242
LOCUSID: 242
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001139|4502052|na
NP: NP_001130|4502053
CDD: pfam00305: Lipoxygenase|6003|933|na|3.635110e+02
CDD: smart00308: Lipoxygenase homology 2 (beta barrel) domain|22753|239|na|9.612140e+01
PRODUCT: arachidonate 12-lipoxygenase, 12R type
ASSEMBLY: AF038461
CONTIG: NT_010718.14|37543500|na|6816991|6832027|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_001139|4502052|na
XP: NP_001130|4502053|na
ACCNUM: AJ305026|13378171|na|na|na
TYPE: g
PROT: CAC34520|13378172|1
ACCNUM: AJ305027|13374920|na|na|na
TYPE: g
ACCNUM: AF038461|3220165|na|na|na
TYPE: m
PROT: AAC39770|3220166|1
ACCNUM: AF059250|3928782|na|na|na
TYPE: m
PROT: AAC79680|3928783|1
ACCNUM: BC041058|26996724|na|na|na
TYPE: m
PROT: AAH41058|26996725|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O75342|12230234|0
OFFICIAL_SYMBOL: ALOX12B
OFFICIAL_GENE_NAME: arachidonate 12-lipoxygenase, 12R type
ALIAS_SYMBOL: 12R-LOX
PREFERRED_PRODUCT: arachidonate 12-lipoxygenase, 12R type
CHR: 17
COMP: 884|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A242[id]+AND+gene[obj_type]&QSTR=alox12b&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=136574
UNIGENE: Hs.136574
OMIM: 603741
MAP: 17p13.1|RefSeq|C|
MAPLINK: default_human_gene|ALOX12B
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=242
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=242[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9862758
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001139
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001139
DB_DESCR: KEGG pathway: Styrene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00643+242
DB_DESCR: KEGG pathway: Fluorene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00628+242
DB_DESCR: KEGG pathway: Carbazole degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00629+242
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+242
DB_DESCR: KEGG pathway: Nitrobenzene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00626+242
DB_DESCR: KEGG pathway: 1,4-Dichlorobenzene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00627+242
DB_DESCR: KEGG pathway: 2,4-Dichlorobenzoate degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00623+242
DB_DESCR: KEGG pathway: Benzoate degradation via hydroxylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00362+242
DB_DESCR: KEGG pathway: Flavonoids, stilbene and lignin biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00940+242
DB_DESCR: KEGG pathway: 1,1,1-Trichloro-2,2-bis(4-chlorophenyl)ethane (DDT) degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00351+242
PMID: 12664578,12477932,11773004,11350124,9837935,9618483
GO: molecular function|arachidonate 12-lipoxygenase activity|TAS|GO:0004052|GOA|9618483
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: molecular function|electron transporter activity|NR|GO:0005489|GOA|na
GO: biological process|epidermis development|TAS|GO:0008544|GOA|9618483
GO: molecular function|iron ion binding|IEA|GO:0005506|GOA|na
GO: biological process|leukotriene biosynthesis|IEA|GO:0019370|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|9618483
GO: molecular function|lipoxygenase activity|IEA|GO:0016165|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>243
LOCUSID: 243
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALOX12P1
OFFICIAL_GENE_NAME: arachidonate 12-lipoxygenase pseudogene 1
ALIAS_SYMBOL: ALOX12P
CHR: 17
MAP: 17|RefSeq|C|
MAPLINK: default_human_cyto|ALOX12P1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132452
PMID: 1570320
>>244
LOCUSID: 244
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001630|4502112|na
NP: NP_001621|4502113
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1095|na|4.257580e+02
PRODUCT: annexin A8
ASSEMBLY: X16662
CONTIG: NT_077570.1|29739944|na|217838|233869|+|10|reference
EVID: supported by alignment with mRNA
XM: NM_001630|4502112|na
XP: NP_001621|4502113|na
ACCNUM: BC004376|13325125|na|na|na
TYPE: m
PROT: AAH04376|13325126|1
ACCNUM: BC008813|33873954|na|na|na
TYPE: m
PROT: AAH08813|31455233|3
ACCNUM: BC021910|21328764|na|na|na
TYPE: m
ACCNUM: BC029890|20987447|na|na|na
TYPE: m
ACCNUM: BC073755|49257003|na|na|na
TYPE: m
PROT: AAH73755|49257004|1
ACCNUM: M81844|178700|na|na|na
TYPE: m
PROT: AAB46383|178701|1
ACCNUM: X16662|37638|na|na|na
TYPE: m
PROT: CAA34650|37639|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P13928|113967|0
OFFICIAL_SYMBOL: ANXA8
OFFICIAL_GENE_NAME: annexin A8
ALIAS_SYMBOL: ANX8
PREFERRED_PRODUCT: annexin A8
SUMMARY: Summary:  Annexin VIII belong to the family of Ca (2+) dependent phospholipid binding proteins (annexins), and has a high 56% identity to annexin V (vascular anticoagulant-alpha).  It was initially isolated as 2.2 kb vascular anticoagulant-beta transcript from human placenta, a Ca (2+) dependent phospholipid binding protein that inhibits coagulation and phospholipase A2 activity.  However, the fact that annexin VIII is neither an extracellular protein nor associated with the cell surface suggests that it may not play a role in blood coagulation in vivo and its physiological role  remains unknown.  It is expressed at low levels in human placenta and shows restricted expression in lung endothelia, skin, liver, and kidney. The gene is also found to be selectively overexpressed in acute myelocytic leukemia.
CHR: 10
STS: SHGC-12720|10|23001|na|na|epcr
COMP: 20393|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A244[id]+AND+gene[obj_type]&QSTR=anxa8&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Annexin VII
ALIAS_PROT: annexin VIII
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=87268
UNIGENE: Hs.87268
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=463110
UNIGENE: Hs.463110
OMIM: 602396
MAP: 10q11.2|HUGO|C|
MAPLINK: default_human_gene|ANXA8
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=244
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=244[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128069
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001630
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001630
PMID: 12477932,8018923,2530088,1364010,1313714
GO: biological process|blood coagulation|IEA|GO:0007596|GOA|na
GO: molecular function|calcium ion binding|NR|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|IEA|GO:0005544|GOA|na
GO: biological process|negative regulation of coagulation|IEA|GO:0050819|GOA|na
>>245
LOCUSID: 245
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene, transcribed
ORGANISM: Homo sapiens
STATUS: MODEL
ACCNUM: AF020775|2582379|na|na|na
TYPE: g
ACCNUM: AF020774|2582378|na|na|na
TYPE: m
ACCNUM: AL832768|21733350|na|na|na
TYPE: m
OFFICIAL_SYMBOL: ALOX12P2
OFFICIAL_GENE_NAME: arachidonate 12-lipoxygenase pseudogene 2
ALIAS_SYMBOL: ALOX12E
CHR: 17
ALIAS_PROT: 12-lipoxygenase-related protein
ALIAS_PROT: hair and skin epidermal-type 12-lipoxygenase-related pseudogene
MAP: 17p13|RefSeq|C|
MAPLINK: default_human_gene|ALOX12P2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=245
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9834524
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=AL832768
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AL832768
PMID: 9691181,1570320
>>246
LOCUSID: 246
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_001140|40316936|na
NP: NP_001131|40316937
CDD: pfam00305: Lipoxygenase|6003|1482|na|5.749860e+02
CDD: pfam01477: PLAT/LH2 domain|16967|263|na|1.054480e+02
PRODUCT: arachidonate 15-lipoxygenase
ASSEMBLY: BC029032,M23892
CONTIG: NT_010718.14|37543500|na|3381244|3391990|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_001140|40316936|na
XP: NP_001131|40316937|na
ACCNUM: AY505111|40288420|na|na|na
TYPE: g
PROT: AAR84235|40288421|1
ACCNUM: U63384|1832252|na|na|na
TYPE: g
PROT: AAC52118|1832253|1
ACCNUM: U88317|1872524|na|na|na
TYPE: g
PROT: AAB49305|1872525|1
ACCNUM: BC029032|20809660|na|na|na
TYPE: m
PROT: AAH29032|20809661|1
ACCNUM: M23892|187190|na|na|na
TYPE: m
PROT: AAA36182|307135|1
ACCNUM: M95923|177104|na|na|na
TYPE: m
PROT: AAA35482|553159|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P16050|126396|0
OFFICIAL_SYMBOL: ALOX15
OFFICIAL_GENE_NAME: arachidonate 15-lipoxygenase
PREFERRED_PRODUCT: arachidonate 15-lipoxygenase
CHR: 17
STS: STS-U88317|17|32281|na|seq_map|epcr
STS: SHGC-35280|17|74314|na|seq_map|epcr
STS: ALOX15-A611G|-|240885|na|na|epcr
STS: ALOX15-F4-R4|-|240886|na|na|epcr
COMP: 885|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A246[id]+AND+gene[obj_type]&QSTR=alox15&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73809
UNIGENE: Hs.73809
OMIM: 152392
ECNUM: 1.13.11.33
MAP: 17p13.3|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152392">OMIM</a>|C|
MAPLINK: default_human_gene|ALOX15
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=246
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=246[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132454
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001140
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001140
DB_DESCR: KEGG pathway: Prostaglandin and leukotriene metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00590+246
PMID: 15111312,12907138,12748293,12664628,12664577,12477932,12084190,11956198,11023533,10200270,9700053,3202857,1570320
GO: molecular function|arachidonate 15-lipoxygenase activity|IEA|GO:0050473|GOA|na
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|10200270
GO: molecular function|iron ion binding|IEA|GO:0005506|GOA|na
GO: biological process|leukotriene biosynthesis|IEA|GO:0019370|GOA|na
GO: biological process|lipid metabolism|NR|GO:0006629|GOA|3202857
GO: molecular function|lipoxygenase activity|TAS|GO:0016165|GOA|3202857
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: cellular component|plasma membrane|NR|GO:0005886|GOA|na
>>247
LOCUSID: 247
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001141|4557308|na
NP: NP_001132|4557309
CDD: pfam00305: Lipoxygenase|6003|947|na|3.689040e+02
CDD: pfam01477: PLAT/LH2 domain|16967|201|na|8.156520e+01
PRODUCT: arachidonate 15-lipoxygenase, second type
ASSEMBLY: U78294
CONTIG: NT_010718.14|37543500|na|6783408|6793458|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_001141|4557308|na
XP: NP_001132|4557309|na
ACCNUM: AF149095|5007029|na|na|na
TYPE: g
PROT: AAD37786|5007030|1
ACCNUM: AJ305028|13378173|na|na|na
TYPE: g
PROT: CAC34521|13378174|1
ACCNUM: AJ305029|13374921|na|na|na
TYPE: g
ACCNUM: AJ305030|13374922|na|na|na
TYPE: g
ACCNUM: AJ305031|13374923|na|na|na
TYPE: g
ACCNUM: AF468051|18643344|na|na|na
TYPE: m
PROT: AAL76274|18643345|1
ACCNUM: AF468052|18643346|na|na|na
TYPE: m
PROT: AAL76275|18643347|1
ACCNUM: AF468053|18643348|na|na|na
TYPE: m
PROT: AAL76276|18643349|1
ACCNUM: AF468054|18643350|na|na|na
TYPE: m
PROT: AAL76277|18643351|1
ACCNUM: BC033294|23959040|na|na|na
TYPE: m
ACCNUM: BC035217|23270880|na|na|na
TYPE: m
PROT: AAH35217|23270881|1
ACCNUM: BC063647|39645887|na|na|na
TYPE: m
PROT: AAH63647|39645888|1
ACCNUM: U78294|2224906|na|na|na
TYPE: m
PROT: AAB61706|2224907|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O15296|12230215|0
OFFICIAL_SYMBOL: ALOX15B
OFFICIAL_GENE_NAME: arachidonate 15-lipoxygenase, second type
PREFERRED_PRODUCT: arachidonate 15-lipoxygenase, second type
SUMMARY: Summary: This enzyme is involved in arachidonic acid metabolism in some epithelial tissues. The protein is similar to human 5S-, 12S-, and 15S-lipoxygenases. This is a second human 15S lipoxygenase.
CHR: 17
STS: PMC21017P1|-|272008|na|na|epcr
COMP: 886|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A247[id]+AND+gene[obj_type]&QSTR=alox15b&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=111256
UNIGENE: Hs.111256
OMIM: 603697
MAP: 17p13.1|RefSeq|C|
MAPLINK: default_human_gene|ALOX15B
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=247
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=247[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9862759
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001141
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001141
DB_DESCR: KEGG pathway: Prostaglandin and leukotriene metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00590+247
PMID: 12704195,12659684,12477932,11839751,11350124,9177185
GO: molecular function|arachidonate 15-lipoxygenase activity|IEA|GO:0050473|GOA|na
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: molecular function|electron transporter activity|NR|GO:0005489|GOA|na
GO: biological process|fatty acid metabolism|TAS|GO:0006631|GOA|9177185
GO: biological process|induction of apoptosis|ISS|GO:0006917|GOA|na
GO: cellular component|intracellular|ISS|GO:0005622|GOA|na
GO: molecular function|iron ion binding|IEA|GO:0005506|GOA|na
GO: biological process|leukotriene biosynthesis|IEA|GO:0019370|GOA|na
GO: molecular function|lipoxygenase activity|TAS|GO:0016165|GOA|9177185
GO: biological process|negative regulation of cell cycle|ISS|GO:0045786|GOA|na
GO: biological process|negative regulation of cell migration|ISS|GO:0030336|GOA|na
GO: biological process|negative regulation of cell proliferation|ISS|GO:0008285|GOA|na
GO: biological process|negative regulation of growth|ISS|GO:0045926|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
>>248
LOCUSID: 248
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001631|13787191|na
NP: NP_001622|4502061
CDD: KOG4126: Alkaline phosphatase [Inorganic ion transport and metabolism]|21904|1730|na|6.705050e+02
PRODUCT: intestinal alkaline phosphatase precursor
ASSEMBLY: J03930,M15694,Y00512
CONTIG: NT_005403.14|37551287|na|83530277|83534152|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_001631|13787191|na
XP: NP_001622|4502061|na
ACCNUM: J03930|178441|na|na|na
TYPE: g
PROT: AAA98617|178442|1
ACCNUM: Y00512|28630|na|na|na
TYPE: g
PROT: CAA68564|296631|1
ACCNUM: M15694|178431|na|na|na
TYPE: m
PROT: AAA51703|178432|1
ACCNUM: M21499|178444|na|na|na
TYPE: m
ACCNUM: M31008|178443|na|na|na
TYPE: m
PROT: AAA51704|178446|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P09923|130744|0
OFFICIAL_SYMBOL: ALPI
OFFICIAL_GENE_NAME: alkaline phosphatase, intestinal
ALIAS_SYMBOL: IAP
PREFERRED_PRODUCT: intestinal alkaline phosphatase precursor
SUMMARY: Summary: There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The exact physiological function of the alkaline phosphatases is not known. The product of this gene is a membrane bound glycosylated enzyme that is localized to fetal and adult intestines although it is closely related to the placental form of the enzyme. Messages of several sizes have been detected but these do not differ in the coding region and may be the result of several polyadenylation signals in the 3' untranslated region.
CHR: 2
STS: RH68968|-|52229|na|na|epcr
ALIAS_PROT: Kasahara isozyme
ALIAS_PROT: glycerophosphatase
ALIAS_PROT: alkaline phosphomonoesterase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37009
UNIGENE: Hs.37009
OMIM: 171740
ECNUM: 3.1.3.1
MAP: 2q37.1|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171740">OMIM</a>|C|
MAPLINK: default_human_gene|ALPI
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=248
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=248[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119671
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001631
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001631
DB_DESCR: KEGG pathway: Folate biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00790+248
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+248
DB_DESCR: KEGG pathway: gamma-Hexachlorocyclohexane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00361+248
PMID: 12919939,12372831,11352565,8449034,3697102,3469665,3468508,2841341
GO: molecular function|alkaline phosphatase activity|NAS|GO:0004035|GOA|2841341
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|phosphorylation|NAS|GO:0016310|GOA|na
>>249
LOCUSID: 249
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000478|13787192|na
NP: NP_000469|13787193
CDD: KOG4126: Alkaline phosphatase [Inorganic ion transport and metabolism]|21904|1749|na|6.778240e+02
PRODUCT: tissue non-specific alkaline phosphatase precursor
ASSEMBLY: AB011406,AH005272
CONTIG: NT_004610.16|37548632|na|2639119|2708152|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_000478|13787192|na
XP: NP_000469|13787193|na
ACCNUM: D87874|1752763|na|na|na
TYPE: g
ACCNUM: D87875|1752764|na|na|na
TYPE: g
ACCNUM: D87876|1752765|na|na|na
TYPE: g
ACCNUM: D87877|1752766|na|na|na
TYPE: g
ACCNUM: D87878|1752767|na|na|na
TYPE: g
ACCNUM: D87879|1752768|na|na|na
TYPE: g
ACCNUM: D87880|1752769|na|na|na
TYPE: g
ACCNUM: D87881|1752770|na|na|na
TYPE: g
ACCNUM: D87882|1752771|na|na|na
TYPE: g
ACCNUM: D87883|1752772|na|na|na
TYPE: g
ACCNUM: D87884|1752773|na|na|na
TYPE: g
ACCNUM: D87885|1752774|na|na|na
TYPE: g
ACCNUM: D87886|1752775|na|na|na
TYPE: g
ACCNUM: D87887|1752776|na|na|na
TYPE: g
ACCNUM: D87888|1752777|na|na|na
TYPE: g
ACCNUM: D87889|1752778|na|na|na
TYPE: g
ACCNUM: M24428|178449|na|na|na
TYPE: g
ACCNUM: M24439|178460|na|na|na
TYPE: g
PROT: AAB59378|178462|1
ACCNUM: X53750|28623|na|na|na
TYPE: g
ACCNUM: AB011406|3401944|na|na|na
TYPE: m
PROT: BAA32129|3401945|1
ACCNUM: AB012643|6580027|na|na|na
TYPE: m
PROT: BAA88367|6580028|1
ACCNUM: BC021289|33878082|na|na|na
TYPE: m
PROT: AAH21289|33878083|2
ACCNUM: BC066116|42490928|na|na|na
TYPE: m
PROT: AAH66116|42490929|1
ACCNUM: X14174|28737|na|na|na
TYPE: m
PROT: CAA32376|28738|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05186|20981705|0
OFFICIAL_SYMBOL: ALPL
OFFICIAL_GENE_NAME: alkaline phosphatase, liver/bone/kidney
ALIAS_SYMBOL: HOPS
ALIAS_SYMBOL: TNAP
ALIAS_SYMBOL: TNSALP
ALIAS_SYMBOL: AP-TNAP
PREFERRED_PRODUCT: tissue non-specific alkaline phosphatase precursor
SUMMARY: Summary: There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization, however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to a disorder known as hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms.
CHR: 1
STS: RH93776|1|93100|na|seq_map|epcr
STS: GDB:549217|1|157635|na|seq_map|epcr
COMP: 20136|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A249[id]+AND+gene[obj_type]&QSTR=alpl&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: glycerophosphatase
ALIAS_PROT: tissue-nonspecific ALP
ALIAS_PROT: alkaline phosphomonoesterase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250769
UNIGENE: Hs.250769
OMIM: 171760
ECNUM: 3.1.3.1
MAP: 1p36.1-p34|HUGO|C|
MAPLINK: default_human_gene|ALPL
PHENOTYPE: Hypophosphatasia, childhood
PHENOTYPE_ID: 241510
PHENOTYPE: Hypophosphatasia, infantile
PHENOTYPE_ID: 241500
PHENOTYPE: Odontohypophosphatasia
PHENOTYPE_ID: 146300
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=249
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=249[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118730
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118730.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000478
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000478
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=171760
DB_DESCR: KEGG pathway: Folate biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00790+249
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+249
DB_DESCR: KEGG pathway: gamma-Hexachlorocyclohexane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00361+249
PMID: 14756545,12815606,12788869,12638946,12477932,12412800,12397600,12372831,11810413,11528114,11438998,10865224,10737975,9823315,9781036,9192863,3532105,3165380,2928120
GO: molecular function|alkaline phosphatase activity|IEA|GO:0004035|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|ossification|IEA|GO:0001503|GOA|na
>>250
LOCUSID: 250
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001632|13787194|na
NP: NP_001623|13787195
CDD: KOG4126: Alkaline phosphatase [Inorganic ion transport and metabolism]|21904|1693|na|6.562530e+02
PRODUCT: placental alkaline phosphatase precursor
ASSEMBLY: M14170,M19159
CONTIG: NT_005403.14|37551287|na|83452872|83457004|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_001632|13787194|na
XP: NP_001623|13787195|na
ACCNUM: M19159|178475|na|na|na
TYPE: g
PROT: AAA51710|178476|1
ACCNUM: M19161|178447|na|na|na
TYPE: g
PROT: AAA51705|553176|1
ACCNUM: AK075432|22761517|na|na|na
TYPE: m
ACCNUM: BC009647|16307117|na|na|na
TYPE: m
PROT: AAH09647|16307118|1
ACCNUM: BC068501|46250428|na|na|na
TYPE: m
PROT: AAH68501|46250429|1
ACCNUM: M12551|178463|na|na|na
TYPE: m
PROT: AAA51706|178464|1
ACCNUM: M13077|178471|na|na|na
TYPE: m
PROT: AAC97139|178474|1
ACCNUM: M14169|178467|na|na|na
TYPE: m
PROT: AAA51708|178468|1
ACCNUM: M14170|178469|na|na|na
TYPE: m
PROT: AAA51709|178470|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05187|130737|0
OFFICIAL_SYMBOL: ALPP
OFFICIAL_GENE_NAME: alkaline phosphatase, placental (Regan isozyme)
ALIAS_SYMBOL: ALP
ALIAS_SYMBOL: PLAP
PREFERRED_PRODUCT: placental alkaline phosphatase precursor
SUMMARY: Summary: There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The exact physiological function of the alkaline phosphatases is not known. The product of this gene is a membrane bound glycosylated enzyme, also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this form of alkaline phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu family repeat. In addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for this form of alkaline phosphatase have been well characterized.
CHR: 2
STS: A002R47|2|27519|na|seq_map|epcr
STS: GDB:216786|-|156214|na|na|epcr
COMP: 20395|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A250[id]+AND+gene[obj_type]&QSTR=alpp&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: glycerophosphatase
ALIAS_PROT: alkaline phosphomonoesterase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=284255
UNIGENE: Hs.284255
OMIM: 171800
ECNUM: 3.1.3.1
MAP: 2q37|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171800">OMIM</a>|C|
MAPLINK: default_human_gene|ALPP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=250
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119672
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001632
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001632
DB_DESCR: KEGG pathway: Folate biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00790+250
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+250
DB_DESCR: KEGG pathway: gamma-Hexachlorocyclohexane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00361+250
PMID: 12851398,12477932,12372831,12081485,11857742,11352565,3512548,3461452,3443302,3042787,3001717,2891112
GO: molecular function|alkaline phosphatase activity|IEA|GO:0004035|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
>>251
LOCUSID: 251
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_031313|14110398|na
NP: NP_112603|14110399
CDD: KOG4126: Alkaline phosphatase [Inorganic ion transport and metabolism]|21904|1737|na|6.732020e+02
PRODUCT: placental-like alkaline phosphatase preproprotein
ASSEMBLY: J04948,X55958
CONTIG: NT_005403.14|37551287|na|83480965|83484829|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_031313|14110398|na
XP: NP_112603|14110399|na
ACCNUM: J03252|178427|na|na|na
TYPE: g
PROT: AAA98616|178428|1
ACCNUM: M19160|178465|na|na|na
TYPE: g
PROT: AAA51707|553177|1
ACCNUM: X07247|35509|na|na|na
TYPE: g
PROT: CAA30232|35510|1
ACCNUM: AB012642|6580025|na|na|na
TYPE: m
PROT: BAA88366|6580026|1
ACCNUM: BC014139|40225557|na|na|na
TYPE: m
PROT: AAH14139|15559552|1
ACCNUM: J04948|178418|na|na|na
TYPE: m
PROT: AAA51700|178419|1
ACCNUM: X53279|28624|na|na|na
TYPE: m
PROT: CAA37374|28625|1
ACCNUM: X55958|296797|na|na|na
TYPE: m
PROT: CAA39425|296798|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P10696|548580|0
OFFICIAL_SYMBOL: ALPPL2
OFFICIAL_GENE_NAME: alkaline phosphatase, placental-like 2
ALIAS_SYMBOL: ALPG
ALIAS_SYMBOL: GCAP
ALIAS_SYMBOL: ALPPL
PREFERRED_PRODUCT: placental-like alkaline phosphatase preproprotein
SUMMARY: Summary: There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The exact physiological function of the alkaline phosphatases is not known. The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase.
CHR: 2
STS: D2S2633|2|16134|D2S2633|seq_map|epcr
COMP: 36407|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A251[id]+AND+gene[obj_type]&QSTR=alppl2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Nagao isozyme
ALIAS_PROT: germ cell alkaline phosphatase
ALIAS_PROT: testicular and thymus alkaline phosphatase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=333509
UNIGENE: Hs.333509
OMIM: 171810
ECNUM: 3.1.3.1
MAP: 2q37|HUGO|C|
MAPLINK: default_human_gene|ALPPL2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=251
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119673
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031313
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031313
DB_DESCR: KEGG pathway: Folate biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00790+251
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+251
DB_DESCR: KEGG pathway: gamma-Hexachlorocyclohexane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00361+251
PMID: 12477932,12372831,9823315,3674755,3443302,2834730,2745460,2297757,2162249
GO: molecular function|alkaline phosphatase activity|NAS|GO:0004035|GOA|2162249
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: cellular component|membrane|NAS|GO:0016020|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|phosphorylation|NAS|GO:0016310|GOA|na
>>252
LOCUSID: 252
CURRENT_LOCUSID: 57679
ORGANISM: Homo sapiens
>>253
LOCUSID: 253
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALS3
OFFICIAL_GENE_NAME: amyotrophic lateral sclerosis 3 (autosomal dominant)
ALIAS_SYMBOL: ALS6
CHR: 18
STS: D18S1109|18|26455|D18S1109|seq_map|11706389
STS: D18S846|18|65974|D18S846|seq_map|11706389
OMIM: 606640
MAP: 18q21|RefSeq|C|
MAPLINK: default_human_cyto|ALS3
PHENOTYPE: Amyotrophic lateral sclerosis
PHENOTYPE_ID: 105400
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:249142
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=606640
PMID: 11706389
>>254
LOCUSID: 254
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALS4
OFFICIAL_GENE_NAME: amyotrophic lateral sclerosis 4
CHR: 9
STS: D9S1831|9|27064|D9S1831|seq_map|9497266
STS: D9S164|9|36197|D9S164|seq_map|9497266
STS: D9S1847|9|61336|D9S1847|seq_map|9497266
OMIM: 602433
MAP: 9q34|RefSeq|C|
MAPLINK: default_human_cyto|ALS4
PHENOTYPE: Amyotrophic lateral sclerosis-4, juvenile dominant
PHENOTYPE_ID: 602433
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:4204599
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=602433
PMID: 9497266
>>255
LOCUSID: 255
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ALS5
OFFICIAL_GENE_NAME: amyotrophic lateral sclerosis 5
CHR: 15
OMIM: 602099
MAP: 15q15.1-q21.1|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602099">OMIM</a>|C|
MAPLINK: default_human_cyto|ALS5
PHENOTYPE: Amyotrophic lateral sclerosis-5, juvenile recessive
PHENOTYPE_ID: 602099
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6242611
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=602099
>>256
LOCUSID: 256
CURRENT_LOCUSID: 55806
ORGANISM: Homo sapiens
>>257
LOCUSID: 257
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_006492|5729727|na
NP: NP_006483|5729728
CDD: pfam00046: Homeobox domain|9043|231|na|9.290260e+01
PRODUCT: aristaless-like homeobox 3
ASSEMBLY: AF008203
CONTIG: NT_019273.16|37539512|na|1598564|1609182|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_006492|5729727|na
XP: NP_006483|5729728|na
ACCNUM: AF008202|4102040|na|na|na
TYPE: g
PROT: AAD01417|12750768|2
ACCNUM: AF008203|4102042|na|na|na
TYPE: m
PROT: AAD01418|4102043|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O95076|13626107|0
OFFICIAL_SYMBOL: ALX3
OFFICIAL_GENE_NAME: aristaless-like homeobox 3
PREFERRED_PRODUCT: aristaless-like homeobox 3
CHR: 1
COMP: 4737|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A257[id]+AND+gene[obj_type]&QSTR=alx3&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=204039
UNIGENE: Hs.204039
OMIM: 606014
MAP: 1p21-p13|RefSeq|C|
MAPLINK: default_human_gene|ALX3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=257
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=257[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9835929
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006492
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006492
PMID: 11807986,7991607
GO: biological process|development|IEA|GO:0007275|GOA|na
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: molecular function|transcription factor activity|IEA|GO:0003700|GOA|na
>>258
LOCUSID: 258
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_016519|48255960|na
NP: NP_057603|7706067
CDD: pfam05111: Ameloblastin precursor (Amelin)|16406|1322|na|5.135550e+02
PRODUCT: ameloblastin precursor
ASSEMBLY: AF209780,AJ537437
CONTIG: NT_078010.1|29792480|na|81467|96127|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_016519|48255960|na
XP: NP_057603|7706067|na
ACCNUM: AY009124|11067049|na|na|na
TYPE: g
PROT: AAG27036|11067050|1
ACCNUM: AF209780|11494134|na|na|na
TYPE: m
PROT: AAG35772|11494135|1
ACCNUM: AF219994|7272384|na|na|na
TYPE: m
PROT: AAF37355|7157958|1
ACCNUM: AF263464|8118596|na|na|na
TYPE: m
PROT: AAF73048|8118597|1
ACCNUM: AJ537437|27805146|na|na|na
TYPE: m
PROT: CAD60938|27805147|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q9NP70|23813668|0
OFFICIAL_SYMBOL: AMBN
OFFICIAL_GENE_NAME: ameloblastin, enamel matrix protein
PREFERRED_PRODUCT: ameloblastin precursor
SUMMARY: Summary: Ameloblastin is thought to represent an unique ameloblast-specific gene product that may be important in enamel matrix formation and mineralization. The gene is located on chromosome 4 near other genes associated with mineralized tissues: osteopontin, bone sialoprotein, and bone morphogenetic protein 3. Based on its cytogenetic location, this gene is a candidate gene for one form of the disorder, dentinogenesis imperfecta, and/or the disorder, autosomal dominant amylogenesis imperfecta.
CHR: 4
COMP: 7625|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A258[id]+AND+gene[obj_type]&QSTR=ambn&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=272396
UNIGENE: Hs.272396
OMIM: 601259
MAP: 4q21|RefSeq|C|
MAPLINK: default_human_gene|AMBN
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=258
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=258[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5560456
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016519
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016519
PMID: 11330937,11054529,10946765,10634581,9126491,9032019
GO: biological process|bone mineralization|NAS|GO:0030282|GOA|na
GO: cellular component|extracellular matrix|NAS|GO:0005578|GOA|na
GO: biological process|odontogenesis (sensu Vertebrata)|IEA|GO:0042475|GOA|na
GO: molecular function|structural constituent of tooth enamel|NAS|GO:0030345|GOA|na
>>259
LOCUSID: 259
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001633|31541901|na
NP: NP_001624|4502067
CDD: cd00109: BPTI/Kunitz family of serine protease inhibitors|5332|188|na|7.646700e+01
CDD: pfam00061: Lipocalin / cytosolic fatty-acid binding protein family|22888|238|na|9.591230e+01
CDD: KOG4295: Serine proteinase inhibitor (KU family) [Posttranslational modification, protein turnover, chaperones]|22071|200|na|8.163070e+01
PRODUCT: alpha-1-microglobulin/bikunin precursor
ASSEMBLY: BC041593
CONTIG: NT_008470.16|37540590|na|18480142|18498450|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_001633|31541901|na
XP: NP_001624|4502067|na
ACCNUM: M88249|186598|na|na|na
TYPE: g
PROT: AAA59196|186600|1
ACCNUM: X54816|24475|na|na|na
TYPE: g
PROT: CAA38585|825614|1
ACCNUM: X54817|24477|na|na|na
TYPE: g
PROT: CAA38586|579627|1
ACCNUM: X54818|28575|na|na|na
TYPE: g
PROT: CAA38587|579676|1
ACCNUM: BC041593|27371331|na|na|na
TYPE: m
PROT: AAH41593|27371332|1
ACCNUM: M11562|186587|na|na|na
TYPE: m
PROT: AAA59194|307077|1
ACCNUM: X04225|32046|na|na|na
TYPE: m
PROT: CAA27803|32047|1
ACCNUM: X04494|24478|na|na|na
TYPE: m
PROT: CAA28182|24479|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02760|122801|0
OFFICIAL_SYMBOL: AMBP
OFFICIAL_GENE_NAME: alpha-1-microglobulin/bikunin precursor
ALIAS_SYMBOL: HCP
ALIAS_SYMBOL: ITI
ALIAS_SYMBOL: UTI
ALIAS_SYMBOL: ITIL
PREFERRED_PRODUCT: alpha-1-microglobulin/bikunin precursor
CHR: 9
STS: STS-M88249|-|74475|na|na|epcr
COMP: 1234|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A259[id]+AND+gene[obj_type]&QSTR=ambp&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Alpha-1-microglobulin/bikunin precursor; inter-alpha-trypsin
ALIAS_PROT: Alpha-1-microglobulin/bikunin precursor (inter-alpha-trypsin inhibitor, light chain; protein HC)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76177
UNIGENE: Hs.76177
OMIM: 176870
MAP: 9q32-q33|HUGO|C|
MAPLINK: default_human_gene|AMBP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=259
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=259[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120696
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001633
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001633
PMID: 14718574,14597629,14516400,12817471,12477932,11883904,11877257,11807786,11058759,10097787,9570066,2430261,2428011,2413856,1708673,1696200,1385302
GO: molecular function|IgA binding|IPI|GO:0019862|GOA|11877257
GO: biological process|anti-inflammatory response|TAS|GO:0030236|GOA|11058759
GO: molecular function|calcium channel inhibitor activity|NAS|GO:0019855|GOA|12817471
GO: molecular function|calcium oxalate binding|NAS|GO:0046904|GOA|14516400
GO: biological process|cell adhesion|NAS|GO:0007155|GOA|9570066
GO: cellular component|extracellular|NAS|GO:0005576|GOA|11877257,14718574
GO: molecular function|heme binding|IPI|GO:0020037|GOA|11877257
GO: biological process|heme catabolism|NAS|GO:0042167|GOA|11877257
GO: biological process|negative regulation of JNK cascade|TAS|GO:0046329|GOA|12817471
GO: biological process|negative regulation of immune response|NAS|GO:0050777|GOA|10097787
GO: cellular component|plasma membrane|IDA|GO:0005886|GOA|12817471
GO: molecular function|plasmin inhibitor activity|TAS|GO:0030568|GOA|12817471
GO: biological process|pregnancy|NAS|GO:0007565|GOA|10097787
GO: molecular function|protein homodimerization activity|IPI|GO:0042803|GOA|11883904
GO: biological process|transport|IEA|GO:0006810|GOA|na
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
GO: molecular function|trypsin inhibitor activity|TAS|GO:0030304|GOA|12817471
>>260
LOCUSID: 260
CURRENT_LOCUSID: 7169
ORGANISM: Homo sapiens
>>261
LOCUSID: 261
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AMCN
OFFICIAL_GENE_NAME: arthrogryposis multiplex congenita, neurogenic
ALIAS_SYMBOL: AMC
ALIAS_SYMBOL: AMC1
ALIAS_SYMBOL: AMCN1
CHR: 5
ALIAS_PROT: Arthrogryposis multiplex congenital, neurogenic
OMIM: 208100
MAP: 5q35|RefSeq|C|
MAPLINK: default_human_cyto|AMCN
PHENOTYPE: Arthrogryposis multiplex congenita, neurogenic
PHENOTYPE_ID: 208100
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9836823
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=208100
PMID: 9345093
>>262
LOCUSID: 262
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001634|5209326|na
NP: NP_001625|4502069
CDD: KOG0788: S-adenosylmethionine decarboxylase [Signal transduction mechanisms]|18582|1107|na|4.305450e+02
PRODUCT: S-adenosylmethionine decarboxylase 1 precursor
ASSEMBLY: AH002603,M21154
CONTIG: NT_025741.13|37551196|na|15365417|15386335|+|6|reference
EVID: supported by alignment with mRNA
XM: NM_001634|5209326|na
XP: NP_001625|4502069|na
ACCNUM: M88003|178519|na|na|na
TYPE: g
ACCNUM: M88004|178520|na|na|na
TYPE: g
ACCNUM: M88005|178521|na|na|na
TYPE: g
ACCNUM: M88006|178522|na|na|na
TYPE: g
ACCNUM: S47803|258345|na|na|na
TYPE: g
PROT: AAD14903|4262755|1
ACCNUM: BC000171|13111807|na|na|na
TYPE: m
PROT: AAH00171|12652837|1
ACCNUM: BC041345|27552877|na|na|na
TYPE: m
ACCNUM: BX640599|34364598|na|na|na
TYPE: m
PROT: CAE45705|34364599|1
ACCNUM: M21154|178517|na|na|na
TYPE: m
PROT: AAA51716|178518|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P17707|118295|0
OFFICIAL_SYMBOL: AMD1
OFFICIAL_GENE_NAME: adenosylmethionine decarboxylase 1
ALIAS_SYMBOL: AMD
ALIAS_SYMBOL: ADOMETDC
PREFERRED_PRODUCT: S-adenosylmethionine decarboxylase 1 precursor
SUMMARY: Summary: The product of this gene is an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. This gene spans 22 kb comprised of 9 exons and 8 introns and encoding two species of mRNA of 2.1 and 3.4-3.6 kb originating from the use of two different polyadenylation signals. The pro-protein is an approximate 38.3 kDa which is known to undergo processing at amino acid 68 to yield two fragments of 32- and 6-kDa.
CHR: 6
STS: STS-M88006|-|29719|na|na|epcr
STS: D6S2429|6|47122|D6S2429|seq_map|epcr
STS: SGC30337|6|51732|na|seq_map|epcr
STS: RH46760|6|57682|na|seq_map|epcr
STS: RH46841|6|90600|na|seq_map|epcr
STS: GDB:192496|6|99316|na|seq_map|epcr
COMP: 1235|6|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=6&MAPS=genes-r-org/rat-chr/human%3A6,genes-r-org/mouse-chr/human%3A6,genes-r-org/human-chr6&query=e%3A262[id]+AND+gene[obj_type]&QSTR=amd1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: S-adenosylmethionine decarboxylase 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159118
UNIGENE: Hs.159118
OMIM: 180980
ECNUM: 4.1.1.50
MAP: 6q21-q22|HUGO|C|
MAPLINK: default_human_gene|AMD1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=262
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=262[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119674
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001634
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001634
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+262
DB_DESCR: PharmGKB: PA24763
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24763
PMID: 14718534,12477932,7789170,2687270,2460457,1527020,1400498
GO: cellular component|cellular_component unknown|ND|GO:0008372|GOA|na
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: biological process|spermidine biosynthesis|NAS|GO:0008295|GOA|na
GO: biological process|spermine biosynthesis|NAS|GO:0006597|GOA|na
>>263
LOCUSID: 263
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001073|29789827|na|1|1570
CONTIG: NT_025307.14|37546468|na|376488|378056|-|X|na
EVID: alignment with NG_001073
XG: NG_001073|29789827|na
ACCNUM: U02035|457942|na|1|1570
TYPE: g
OFFICIAL_SYMBOL: AMDP1
OFFICIAL_GENE_NAME: S-adenosylmethionine decarboxylase pseudogene 1
ALIAS_SYMBOL: AMD
ALIAS_SYMBOL: AMD2
CHR: X
ALIAS_PROT: S-adenosylmethionine decarboxylase 2
ALIAS_PROT: S-adenosylmethionine decarboxylase 2 (pseudogene)
MAP: Xq22-q28|HUGO|C|
MAPLINK: default_human_gene|AMDP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=263
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120743
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+263
PMID: 7789170
>>264
LOCUSID: 264
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AMDM
OFFICIAL_GENE_NAME: acromesomelic dysplasia, Maroteaux type
CHR: 9
OMIM: 602875
MAP: 9p13-q12|RefSeq|C|
MAPLINK: default_human_cyto|AMDM
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9862243
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=602875
PMID: 9634515
>>265
LOCUSID: 265
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001142|6715562|na
NP: NP_001133|4502071
CDD: pfam02948: Amelogenin|8440|189|na|7.718890e+01
PRODUCT: amelogenin (X chromosome) isoform 1 precursor
TRANSVAR: Transcript Variant: This variant (1) lacks an in-frame exon in the coding region, compared to variant 3. Isoform 1 is shorter than isoform 3 and is the most abundant isoform of this protein.
ASSEMBLY: M86932
NM: NM_182680|33356555|na
NP: NP_872621|33356556
CDD: pfam02948: Amelogenin|8440|175|na|7.179610e+01
PRODUCT: amelogenin (X chromosome) isoform 3 precursor
TRANSVAR: Transcript Variant: This variant (3) encodes the longest isoform (3) of this protein.
ASSEMBLY: AF436849
NM: NM_182681|33356557|na
NP: NP_872622|33356558
CDD: pfam02948: Amelogenin|8440|125|na|5.253610e+01
PRODUCT: amelogenin (X chromosome) isoform 2 precursor
TRANSVAR: Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 3. Isoform 2 is shorter than isoform 3.
ASSEMBLY: M86932
CONTIG: NT_011757.13|37546406|na|7278098|7285446|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_001142|6715562|na
XP: NP_001133|4502071|na
EVID: supported by alignment with mRNA
XM: NM_182680|33356555|na
XP: NP_872621|33356556|na
EVID: supported by alignment with mRNA
XM: NM_182681|33356557|na
XP: NP_872622|33356558|na
ACCNUM: AC002366|2739349|na|na|na
TYPE: g
PROT: AAC21581|2739350|1
ACCNUM: AY040206|15028582|na|na|na
TYPE: g
PROT: AAK77213|15028583|1
ACCNUM: M55418|178526|na|na|na
TYPE: g
PROT: AAA62826|178527|1
ACCNUM: X14440|37986|na|na|na
TYPE: g
PROT: CAA32613|3805930|1
ACCNUM: AF436849|16903155|na|na|na
TYPE: m
PROT: AAL30432|16903156|1
ACCNUM: BC069118|46575625|na|na|na
TYPE: m
PROT: AAH69118|46575626|1
ACCNUM: BC074951|50959664|na|na|na
TYPE: m
PROT: AAH74951|49901640|1
ACCNUM: M86932|178528|na|na|na
TYPE: m
PROT: AAA51717|178529|1
ACCNUM: S67147|453120|na|na|na
TYPE: m
PROT: AAB29184|453121|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q99217|1168430|0
OFFICIAL_SYMBOL: AMELX
OFFICIAL_GENE_NAME: amelogenin (amelogenesis imperfecta 1, X-linked)
ALIAS_SYMBOL: AMG
ALIAS_SYMBOL: AIH1
ALIAS_SYMBOL: ALGN
ALIAS_SYMBOL: AMGL
ALIAS_SYMBOL: AMGX
PREFERRED_PRODUCT: amelogenin (X chromosome) isoform 1 precursor
PREFERRED_PRODUCT: amelogenin (X chromosome) isoform 2 precursor
PREFERRED_PRODUCT: amelogenin (X chromosome) isoform 3 precursor
SUMMARY: Summary: This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms.
CHR: X
COMP: 36056|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A265[id]+AND+gene[obj_type]&QSTR=amelx&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: amelogenin (X chromosome, amelogenesis imperfecta 1)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=46329
UNIGENE: Hs.46329
OMIM: 300391
MAP: Xp22.31-p22.1|HUGO|C|
MAPLINK: default_human_gene|AMELX
PHENOTYPE: Amelogenesis imperfecta
PHENOTYPE_ID: 301200
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=265
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119675
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119675.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_182680
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_182680
PMID: 15111628,12613657,12477932,11922869,11922868,11877393,11852235,11839357,11406633,8254123,2737677,1734713,1483698
GO: biological process|bone mineralization|NAS|GO:0030282|GOA|na
GO: biological process|development|IEA|GO:0007275|GOA|na
GO: cellular component|extracellular matrix|NAS|GO:0005578|GOA|na
GO: molecular function|extracellular matrix structural constituent|NR|GO:0005201|GOA|na
GO: cellular component|extracellular space|NR|GO:0005615|GOA|na
GO: biological process|odontogenesis|NAS|GO:0042476|GOA|na
GO: molecular function|structural constituent of tooth enamel|NAS|GO:0030345|GOA|na
>>266
LOCUSID: 266
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001143|4502072|na
NP: NP_001134|4502073
CDD: pfam02948: Amelogenin|8440|214|na|8.681890e+01
PRODUCT: amelogenin (Y chromosome) precursor
ASSEMBLY: M86933
CONTIG: NT_011896.8|37546655|na|4142265|4150374|-|Y|reference
EVID: supported by alignment with mRNA
XM: NM_001143|4502072|na
XP: NP_001134|4502073|na
ACCNUM: M55419|178524|na|na|na
TYPE: g
PROT: AAA62827|178525|1
ACCNUM: X14439|38002|na|na|na
TYPE: g
PROT: CAA32612|3805933|1
ACCNUM: BC069138|46575645|na|na|na
TYPE: m
PROT: AAH69138|46575646|1
ACCNUM: BC074976|50960434|na|na|na
TYPE: m
PROT: AAH74976|50960435|1
ACCNUM: BC074977|50960180|na|na|na
TYPE: m
PROT: AAH74977|50960181|1
ACCNUM: M86933|178530|na|na|na
TYPE: m
PROT: AAA51718|178531|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q99218|1168432|0
OFFICIAL_SYMBOL: AMELY
OFFICIAL_GENE_NAME: amelogenin, Y-linked
ALIAS_SYMBOL: AMGL
ALIAS_SYMBOL: AMGY
PREFERRED_PRODUCT: amelogenin (Y chromosome) precursor
SUMMARY: Summary: This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta.
CHR: Y
STS: SHGC-36989|Y|43300|na|seq_map|epcr
ALIAS_PROT: amelogenin (Y chromosome)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1238
UNIGENE: Hs.1238
OMIM: 410000
MAP: Yp11.2|HUGO|C|
MAPLINK: default_human_gene|AMELY
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=266
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=266[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119676
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001143
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001143
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=410000
PMID: 12815422,12477932,2737677,2037302,2004775,1734713
GO: biological process|bone mineralization|ISS|GO:0030282|GOA|na
GO: biological process|development|IEA|GO:0007275|GOA|na
GO: cellular component|extracellular matrix|ISS|GO:0005578|GOA|na
GO: molecular function|extracellular matrix structural constituent|NR|GO:0005201|GOA|na
GO: biological process|odontogenesis|ISS|GO:0042476|GOA|na
GO: molecular function|structural constituent of tooth enamel|ISS|GO:0030345|GOA|na
>>267
LOCUSID: 267
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001144|21071000|na
NP: NP_001135|21071001
CDD: smart00546: Domain that may be involved in binding ubiquitin-conjugating enzymes (UBCs)|3931|110|na|4.623070e+01
CDD: KOG0802: E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]|18595|843|na|3.290090e+02
CDD: cd00162: RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc|14831|133|na|5.547560e+01
PRODUCT: autocrine motility factor receptor isoform a
TRANSVAR: Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (a).
ASSEMBLY: AF124145,AK023874,W60999
NM: NM_138958|21071002|na
NP: NP_620408|21071003
CDD: KOG0802: E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]|18595|555|na|2.180710e+02
PRODUCT: autocrine motility factor receptor isoform b
TRANSVAR: Transcript Variant: This variant (2) lacks a coding exon as compared to transcript variant 1. Variant 2 encodes isoform b, which is shorter and contains a unique C-terminus as compared to isoform a encoded by variant 1.
ASSEMBLY: AF124145,AK023874,W60999
CONTIG: NT_010498.14|37541544|na|5116166|5180016|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_001144|21071000|na
XP: NP_001135|21071001|na
EVID: supported by alignment with mRNA
XM: NM_138958|21071002|na
XP: NP_620408|21071003|na
ACCNUM: AF124145|5931954|na|na|na
TYPE: m
PROT: AAD56722|5931955|1
ACCNUM: AK023874|10435943|na|na|na
TYPE: m
ACCNUM: BC056869|34784903|na|na|na
TYPE: m
PROT: AAH56869|34784904|1
ACCNUM: BC069197|46623044|na|na|na
TYPE: m
PROT: AAH69197|46623045|1
ACCNUM: L35233|521220|na|na|na
TYPE: m
PROT: AAA79362|521221|1
ACCNUM: M63175|338730|na|na|na
TYPE: m
PROT: AAA36671|338731|1
ACCNUM: W60999|1367758|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P26442|113707|0
PROT: Q9UKV5|34922250|0
OFFICIAL_SYMBOL: AMFR
OFFICIAL_GENE_NAME: autocrine motility factor receptor
ALIAS_SYMBOL: GP78
ALIAS_SYMBOL: RNF45
PREFERRED_PRODUCT: autocrine motility factor receptor isoform a
PREFERRED_PRODUCT: autocrine motility factor receptor isoform b
SUMMARY: Summary: Autocrine motility factor is a tumor motility-stimulating protein secreted by tumor cells. The protein encoded by this gene is a glycosylated transmembrane protein and a receptor for autocrine motility factor. The receptor, which shows some sequence similarity to tumor protein p53, is localized to the leading and trailing edges of carcinoma cells. Two transcript variants encoding different isoforms have been found for this gene.
CHR: 16
STS: SHGC-60751|16|21603|na|seq_map|epcr
STS: SHGC-60972|16|51932|na|seq_map|epcr
STS: RH70754|16|64201|na|seq_map|epcr
STS: SHGC-61049|16|77394|na|seq_map|epcr
COMP: 888|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A267[id]+AND+gene[obj_type]&QSTR=amfr&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=295137
UNIGENE: Hs.295137
OMIM: 603243
MAP: 16q21|RefSeq|C|
MAPLINK: default_human_gene|AMFR
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=267
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=267[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128795
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001144
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001144
PMID: 14702039,12962414,12670940,12477932,12067203,11902125,11724934,10456327,8889549,7626106,1649192
GO: biological process|ER-associated protein catabolism|IDA|GO:0030433|GOA|11724934
GO: biological process|cell motility|TAS|GO:0006928|GOA|1649192
GO: cellular component|integral to endoplasmic reticulum membrane|IDA|GO:0030176|GOA|11724934
GO: cellular component|integral to plasma membrane|NR|GO:0005887|GOA|na
GO: molecular function|ligase activity|IEA|GO:0016874|GOA|na
GO: cellular component|membrane fraction|NR|GO:0005624|GOA|na
GO: molecular function|protein binding|IPI|GO:0005515|GOA|11724934
GO: biological process|protein ubiquitination|IEA|GO:0016567|GOA|na
GO: molecular function|receptor activity|IPI|GO:0004872|GOA|1649192,10456327
GO: molecular function|receptor activity|NAS|GO:0004872|GOA|1649192,10456327
GO: biological process|signal transduction|TAS|GO:0007165|GOA|1649192
GO: cellular component|ubiquitin ligase complex|IEA|GO:0000151|GOA|na
GO: molecular function|ubiquitin-protein ligase activity|IDA|GO:0004842|GOA|11724934
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>268
LOCUSID: 268
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000479|6138973|na
NP: NP_000470|4502077
CDD: pfam04709: Anti-Mullerian hormone, N terminal region|16006|1007|na|3.920940e+02
CDD: smart00204: Transforming growth  factor-beta (TGF-beta) family|22704|259|na|1.037810e+02
PRODUCT: anti-Mullerian hormone
ASSEMBLY: AC005263,K03474
CONTIG: NT_011255.14|37552371|na|2189122|2192071|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_000479|6138973|na
XP: NP_000470|4502077|na
ACCNUM: AC005263|3289978|na|na|na
TYPE: g
PROT: AAC25614|3289980|1
ACCNUM: K03474|188560|na|na|na
TYPE: g
PROT: AAA98805|386953|1
ACCNUM: BC033218|23138815|na|na|na
TYPE: m
ACCNUM: BC049194|29351569|na|na|na
TYPE: m
PROT: AAH49194|29351570|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P03971|127109|0
OFFICIAL_SYMBOL: AMH
OFFICIAL_GENE_NAME: anti-Mullerian hormone
ALIAS_SYMBOL: MIF
ALIAS_SYMBOL: MIS
PREFERRED_PRODUCT: anti-Mullerian hormone
SUMMARY: Summary: Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome.
CHR: 19
COMP: 407|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A268[id]+AND+gene[obj_type]&QSTR=amh&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Mullerian inhibiting factor
ALIAS_PROT: Mullerian inhibiting substance
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=112432
UNIGENE: Hs.112432
OMIM: 600957
MAP: 19p13.3|HUGO|C|
MAPLINK: default_human_gene|AMH
PHENOTYPE: Persistent Mullerian duct syndrome, type I
PHENOTYPE_ID: 261550
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=268
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=268[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118996
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000479
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000479
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.figgrp.21+OR+arev.section.18
DB_DESCR: KEGG pathway: TGF-beta signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04350+268
DB_DESCR: KEGG pathway: Cytokine-cytokine receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04060+268
PMID: 15070957,14715867,14671316,14671196,12571168,12477932,12462075,12456604,11773638,9713320,8895659,3754790,3028714
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|3754790
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|3754790
GO: biological process|gonadal mesoderm development|IEA|GO:0007506|GOA|na
GO: molecular function|growth factor activity|IEA|GO:0008083|GOA|na
GO: molecular function|hormone activity|TAS|GO:0005179|GOA|3754790
GO: biological process|sex determination|TAS|GO:0007530|GOA|3754790
>>269
LOCUSID: 269
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_020547|10198655|na
NP: NP_065434|10198656
CDD: pfam01064: Activin types I and II receptor domain|23143|93|na|4.009860e+01
CDD: cd00180: Serine/Threonine protein kinases, catalytic domain|17776|311|na|1.237730e+02
PRODUCT: anti-Mullerian hormone receptor, type II
ASSEMBLY: X89013
CONTIG: NT_029419.10|29803948|na|15960947|15968618|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_020547|10198655|na
XP: NP_065434|10198656|na
ACCNUM: U29700|1136441|na|na|na
TYPE: g
PROT: AAC50328|1136442|1
ACCNUM: X89013|1212943|na|na|na
TYPE: g
PROT: CAA61418|1212944|1
ACCNUM: X91156|1107671|na|na|na
TYPE: g
PROT: CAA62593|1107672|1
ACCNUM: X91157|1107675|na|na|na
TYPE: g
ACCNUM: X91158|1107676|na|na|na
TYPE: g
ACCNUM: X91159|1107677|na|na|na
TYPE: g
ACCNUM: X91160|1107678|na|na|na
TYPE: g
ACCNUM: X91161|1107679|na|na|na
TYPE: g
ACCNUM: X91162|1107682|na|na|na
TYPE: g
ACCNUM: X91163|1107680|na|na|na
TYPE: g
ACCNUM: X91164|1107681|na|na|na
TYPE: g
ACCNUM: X91165|1107674|na|na|na
TYPE: g
ACCNUM: X91166|1107673|na|na|na
TYPE: g
ACCNUM: AF172932|5726642|na|na|na
TYPE: m
PROT: AAD48497|5726643|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q16671|9087133|0
OFFICIAL_SYMBOL: AMHR2
OFFICIAL_GENE_NAME: anti-Mullerian hormone receptor, type II
ALIAS_SYMBOL: AMHR
ALIAS_SYMBOL: MISRII
PREFERRED_PRODUCT: anti-Mullerian hormone receptor, type II
CHR: 12
STS: STS-U29700|12|43386|na|seq_map|epcr
STS: G64262|12|166631|na|seq_map|epcr
COMP: 10746|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A269[id]+AND+gene[obj_type]&QSTR=amhr2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Mullerian inhibiting substance type II receptor
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437877
UNIGENE: Hs.437877
OMIM: 600956
MAP: 12q13|HUGO|C|
MAPLINK: default_human_gene|AMHR2
PHENOTYPE: Persistent Mullerian duct syndrome, type II
PHENOTYPE_ID: 261550
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=269
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=269[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:696210
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020547
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020547
DB_DESCR: KEGG pathway: TGF-beta signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04350+269
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+269
DB_DESCR: KEGG pathway: Inositol phosphate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00562+269
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+269
DB_DESCR: KEGG pathway: Porphyrin and chlorophyll metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00860+269
DB_DESCR: KEGG pathway: Cytokine-cytokine receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04060+269
DB_DESCR: KEGG pathway: Nicotinate and nicotinamide metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00760+269
PMID: 12462075,11588147,7493017,7488027
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|protein amino acid phosphorylation|IEA|GO:0006468|GOA|na
GO: molecular function|protein serine/threonine kinase activity|IEA|GO:0004674|GOA|na
GO: molecular function|receptor activity|TAS|GO:0004872|GOA|7493017
GO: biological process|sex determination|IEA|GO:0007530|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|7493017
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
GO: molecular function|transforming growth factor beta receptor activity|IEA|GO:0005024|GOA|na
>>270
LOCUSID: 270
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000036|4557310|na
NP: NP_000027|4557311
CDD: KOG1096: Adenosine monophosphate deaminase [Nucleotide transport and metabolism]|18887|2679|na|1.036070e+03
PRODUCT: adenosine monophosphate deaminase 1 (isoform M)
ASSEMBLY: M60092
CONTIG: NT_019273.16|37539512|na|6211670|6234124|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_000036|4557310|na
XP: NP_000027|4557311|na
ACCNUM: M37931|886270|na|na|na
TYPE: g
PROT: AAG24258|10864686|1
ACCNUM: AK097077|21756725|na|na|na
TYPE: m
ACCNUM: BC056678|35505167|na|na|na
TYPE: m
PROT: AAH56678|35505168|1
ACCNUM: M60092|178543|na|na|na
TYPE: m
PROT: AAA57281|178544|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P23109|113697|0
OFFICIAL_SYMBOL: AMPD1
OFFICIAL_GENE_NAME: adenosine monophosphate deaminase 1 (isoform M)
ALIAS_SYMBOL: MADA
PREFERRED_PRODUCT: adenosine monophosphate deaminase 1 (isoform M)
SUMMARY: Summary: Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human.
CHR: 1
COMP: 20|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A270[id]+AND+gene[obj_type]&QSTR=ampd1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Adenosine monophosphate deaminase-1 (muscle)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89570
UNIGENE: Hs.89570
OMIM: 102770
ECNUM: 3.5.4.6
MAP: 1p13|HUGO|C|
MAPLINK: default_human_gene|AMPD1
PHENOTYPE: Myoadenylate deaminase deficiency
PHENOTYPE_ID: 102770
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=270
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=270[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119677
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000036
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000036
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=102770
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+270
PMID: 14702039,12477932,12117480,2345176,1400401,1370861,644316
GO: molecular function|AMP deaminase activity|TAS|GO:0003876|GOA|644316
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|nucleotide metabolism|IEA|GO:0009117|GOA|na
GO: biological process|purine ribonucleoside monophosphate biosynthesis|IEA|GO:0009168|GOA|na
>>271
LOCUSID: 271
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_004037|22507370|na
NP: NP_004028|21264318
CDD: pfam00962: Adenosine/AMP deaminase|23126|200|na|8.111000e+01
CDD: KOG1096: Adenosine monophosphate deaminase [Nucleotide transport and metabolism]|18887|2853|na|1.103100e+03
PRODUCT: adenosine monophosphate deaminase 2 (isoform L) isoform 1
ASSEMBLY: AH006626
NM: NM_139156|34147620|na
NP: NP_631895|34147621
CDD: pfam00962: Adenosine/AMP deaminase|23126|199|na|8.072480e+01
CDD: KOG1096: Adenosine monophosphate deaminase [Nucleotide transport and metabolism]|18887|2836|na|1.096550e+03
PRODUCT: adenosine monophosphate deaminase 2 (isoform L) isoform 2
ASSEMBLY: BC007711
CONTIG: NT_019273.16|37539512|na|1158458|1170704|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_004037|22507370|na
XP: NP_004028|21264318|na
EVID: supported by alignment with mRNA
XM: NM_139156|34147620|na
XP: NP_631895|34147621|na
ACCNUM: M91029|644508|na|na|na
TYPE: g
PROT: AAA62126|644509|1
PROT: AAA62127|178547|1
ACCNUM: U16269|608496|na|na|na
TYPE: g
PROT: AAB06511|608497|1
ACCNUM: U16272|5922014|na|na|na
TYPE: g
PROT: AAC50309|5922016|2
PROT: AAD56302|5922017|1
PROT: AAD56303|5922018|1
ACCNUM: AK025706|10438309|na|na|na
TYPE: m
ACCNUM: BC007711|33871758|na|na|na
TYPE: m
PROT: AAH07711|14043443|1
ACCNUM: BC030217|22539634|na|na|na
TYPE: m
ACCNUM: BC075844|49904196|na|na|na
TYPE: m
PROT: AAH75844|49904197|1
ACCNUM: S47833|258761|na|na|na
TYPE: m
PROT: AAA11725|258762|1
ACCNUM: U16267|608492|na|na|na
TYPE: m
PROT: AAC50306|608493|1
ACCNUM: U16268|608494|na|na|na
TYPE: m
PROT: AAC50307|608495|1
ACCNUM: U16270|608498|na|na|na
TYPE: m
PROT: AAC50308|608499|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q01433|12644375|0
OFFICIAL_SYMBOL: AMPD2
OFFICIAL_GENE_NAME: adenosine monophosphate deaminase 2 (isoform L)
PREFERRED_PRODUCT: adenosine monophosphate deaminase 2 (isoform L) isoform 1
PREFERRED_PRODUCT: adenosine monophosphate deaminase 2 (isoform L) isoform 2
CHR: 1
STS: A006D12|1|5946|na|seq_map|epcr
COMP: 2979|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A271[id]+AND+gene[obj_type]&QSTR=ampd2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82927
UNIGENE: Hs.82927
OMIM: 102771
ECNUM: 3.5.4.6
MAP: 1p13.3|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102771">OMIM</a>|C|
MAPLINK: default_human_gene|AMPD2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=271
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=271[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118753
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004037
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004037
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+271
PMID: 12745092,12477932,8764830,8526848,1429593,1400401
GO: molecular function|AMP deaminase activity|NAS|GO:0003876|GOA|8764830
GO: cellular component|cellular_component unknown|ND|GO:0008372|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|purine nucleotide metabolism|NAS|GO:0006163|GOA|na
GO: biological process|purine ribonucleoside monophosphate biosynthesis|IEA|GO:0009168|GOA|na
>>272
LOCUSID: 272
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_000480|4502078|na
NP: NP_000471|4502079
CDD: KOG1096: Adenosine monophosphate deaminase [Nucleotide transport and metabolism]|18887|2668|na|1.031830e+03
PRODUCT: adenosine monophosphate deaminase (isoform E)
ASSEMBLY: AH005333
CONTIG: NT_009237.16|37541814|na|9236164|9292611|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_000480|4502078|na
XP: NP_000471|4502079|na
ACCNUM: D31646|598504|na|na|na
TYPE: g
PROT: BAA06505|1321635|1
ACCNUM: U29926|1002660|na|na|na
TYPE: g
PROT: AAB60408|1002662|1
PROT: AAB60409|1002663|1
PROT: AAB60410|1002664|1
ACCNUM: D12775|219456|na|na|na
TYPE: m
PROT: BAA02240|219457|1
ACCNUM: M84720|178548|na|na|na
TYPE: m
PROT: AAA58365|178549|1
ACCNUM: M84721|178550|na|na|na
TYPE: m
PROT: AAA58366|178551|1
ACCNUM: M84722|178552|na|na|na
TYPE: m
PROT: AAA58367|553179|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q01432|399033|0
OFFICIAL_SYMBOL: AMPD3
OFFICIAL_GENE_NAME: adenosine monophosphate deaminase (isoform E)
PREFERRED_PRODUCT: adenosine monophosphate deaminase (isoform E)
CHR: 11
STS: RH46259|-|2143|na|na|epcr
STS: D6S2084|11|58474|D6S2084|seq_map|epcr
STS: STS-U29926|-|60666|na|na|epcr
STS: G15890|11|70801|na|seq_map|epcr
COMP: 408|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A272[id]+AND+gene[obj_type]&QSTR=ampd3&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83918
UNIGENE: Hs.83918
OMIM: 102772
ECNUM: 3.5.4.6
MAP: 11p15|HUGO|C|
MAPLINK: default_human_gene|AMPD3
PHENOTYPE: AMP deaminase deficiency, erythrocytic
PHENOTYPE_ID: 102772
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=272
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=272[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136013
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/136013.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000480
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000480
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+272
PMID: 12604357,12213808,9291127,8611627,7881427,1420359,1400401
GO: biological process|AMP catabolism|TAS|GO:0006196|GOA|9291127
GO: molecular function|AMP deaminase activity|TAS|GO:0003876|GOA|9291127
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|nucleotide metabolism|IEA|GO:0009117|GOA|na
GO: biological process|purine ribonucleoside monophosphate biosynthesis|IEA|GO:0009168|GOA|na
>>273
LOCUSID: 273
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001635|21536405|na
NP: NP_001626|4502081
CDD: smart00721: BAR domain|9026|449|na|1.770960e+02
CDD: cd00174: Src homology 3 domains|16539|119|na|4.974360e+01
PRODUCT: amphiphysin isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform.
ASSEMBLY: AF034996,X81438
NM: NM_139316|21536422|na
NP: NP_647477|21536423
CDD: smart00721: BAR domain|9026|448|na|1.767110e+02
CDD: cd00174: Src homology 3 domains|16539|119|na|4.974360e+01
PRODUCT: amphiphysin isoform 2
TRANSVAR: Transcript Variant: This variant (2) lacks an in-frame exon within the coding region compared to variant 1, resulting in a shorter protein (isoform 2).
ASSEMBLY: AF034996
CONTIG: NT_007819.14|37538470|na|37715421|37963136|-|7|reference
EVID: supported by alignment with mRNA
XM: NM_001635|21536405|na
XP: NP_001626|4502081|na
EVID: supported by alignment with mRNA
XM: NM_139316|21536422|na
XP: NP_647477|21536423|na
CONTIG: NT_079592.1|37538986|na|37794093|38041803|-|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001635|21536405|na
XP: NP_001626|4502081|na
EVID: supported by alignment with mRNA
XM: NM_139316|21536422|na
XP: NP_647477|21536423|na
ACCNUM: AF034996|2895527|na|na|na
TYPE: m
PROT: AAC02977|2895528|1
ACCNUM: AF498092|21262948|na|na|na
TYPE: m
PROT: AAM44806|21262949|1
ACCNUM: AF498093|21262950|na|na|na
TYPE: m
PROT: AAM44807|21262951|1
ACCNUM: AF498094|21262952|na|na|na
TYPE: m
PROT: AAM44808|21262953|1
ACCNUM: AF498095|21262954|na|na|na
TYPE: m
PROT: AAM44809|21262955|1
ACCNUM: AF498096|21262956|na|na|na
TYPE: m
PROT: AAM44810|21262957|1
ACCNUM: AF498097|21262958|na|na|na
TYPE: m
PROT: AAM44811|21262959|1
ACCNUM: BC034376|21707929|na|na|na
TYPE: m
PROT: AAH34376|21707930|1
ACCNUM: U07616|550449|na|na|na
TYPE: m
PROT: AAA21865|550450|1
ACCNUM: X81438|662991|na|na|na
TYPE: m
PROT: CAA57197|662992|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P49418|1351924|0
OFFICIAL_SYMBOL: AMPH
OFFICIAL_GENE_NAME: amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)
ALIAS_SYMBOL: AMPH1
PREFERRED_PRODUCT: amphiphysin isoform 1
PREFERRED_PRODUCT: amphiphysin isoform 2
SUMMARY: Summary: This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined.
CHR: 7
STS: WI-12429|7|1636|na|seq_map|epcr
STS: SHGC-56040|7|3683|na|seq_map|epcr
STS: 1708|7|5921|na|seq_map|epcr
STS: AMPH|7|10411|AMPH|seq_map|epcr
STS: RH17983|7|10777|na|seq_map|epcr
STS: D7S2115E|7|15698|D7S2115E|seq_map|epcr
COMP: 36072|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A273[id]+AND+gene[obj_type]&QSTR=amph&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=173034
UNIGENE: Hs.173034
OMIM: 600418
MAP: 7p14-p13|HUGO|C|
MAPLINK: default_human_gene|AMPH
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=273
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=273[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:386990
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001635
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001635
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.752+OR+arev.section.736+OR+arev.section.768
PMID: 12477932,12023042,9182667,8245793,8076697,7757077,1628617
GO: cellular component|actin cytoskeleton|TAS|GO:0015629|GOA|9182667
GO: biological process|endocytosis|TAS|GO:0006897|GOA|9182667
GO: biological process|synaptic transmission|IEA|GO:0007268|GOA|9182667
GO: biological process|synaptic transmission|TAS|GO:0007268|GOA|9182667
GO: cellular component|synaptic vesicle|TAS|GO:0008021|GOA|1628617
>>274
LOCUSID: 274
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004305|21536381|na
NP: NP_004296|4757748
CDD: pfam03114: BAR domain|23420|645|na|2.525140e+02
CDD: smart00326: Src homology 3 domains|22760|133|na|5.518800e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1107|na|4.305640e+02
PRODUCT: bridging integrator 1 isoform 8
TRANSVAR: Transcript Variant: This variant (8) lacks five in-frame exons and has an additional in-frame exon in the coding region, compared to variant 1. Isoform 8 is shorter than isoform 1. It is expressed in muscle and localizes to the nucleus.
ASSEMBLY: AL713697,U68485
NM: NM_139343|21536399|na
NP: NP_647593|21536400
CDD: pfam03114: BAR domain|23420|700|na|2.737000e+02
CDD: smart00326: Src homology 3 domains|22760|134|na|5.557320e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1143|na|4.444310e+02
PRODUCT: bridging integrator 1 isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longest isoform, which is cytoplasmic. Isoform 1, also called IIa and S11R3-a, binds dynamin, synaptojanin, and clathrin. This isoform is expressed exclusively in the brain and is concentrated in nerve terminals.
ASSEMBLY: AL713697
NM: NM_139344|21536401|na
NP: NP_647594|21536402
CDD: pfam03114: BAR domain|23420|704|na|2.752410e+02
CDD: smart00326: Src homology 3 domains|22760|134|na|5.557320e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1212|na|4.710090e+02
PRODUCT: bridging integrator 1 isoform 2
TRANSVAR: Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. Isoform 2, also called IId and S1/R3-6, is shorter than isoform 1 and binds dynamin, synaptojanin, and clathrin.
ASSEMBLY: AF043901,AL713697
NM: NM_139345|21536403|na
NP: NP_647595|21536404
CDD: pfam03114: BAR domain|23420|695|na|2.717740e+02
CDD: smart00326: Src homology 3 domains|22760|135|na|5.595840e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1264|na|4.910400e+02
PRODUCT: bridging integrator 1 isoform 3
TRANSVAR: Transcript Variant: This variant (3) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 3, also called IIc1, is shorter than isoform 1 and binds dynamin and synaptojanin.
ASSEMBLY: AF043899,AL713697
NM: NM_139346|21536406|na
NP: NP_647596|21536407
CDD: pfam03114: BAR domain|23420|642|na|2.513580e+02
CDD: smart00326: Src homology 3 domains|22760|134|na|5.557320e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1170|na|4.548310e+02
PRODUCT: bridging integrator 1 isoform 4
TRANSVAR: Transcript Variant: This variant (4) lacks four in-frame exons and has an additional in-frame exon in the coding region, compared to variant 1. Isoform 4 is shorter than isoform 1.
ASSEMBLY: AH006176,AL713697
NM: NM_139347|21536408|na
NP: NP_647597|21536409
CDD: pfam03114: BAR domain|23420|651|na|2.548250e+02
CDD: smart00326: Src homology 3 domains|22760|134|na|5.557320e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1186|na|4.609940e+02
PRODUCT: bridging integrator 1 isoform 5
TRANSVAR: Transcript Variant: This variant (5) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 5, also called IIb, is shorter than isoform 1 and binds dynamin, synaptojanin, and endophilin.
ASSEMBLY: AF043898,AL713697
NM: NM_139348|21536410|na
NP: NP_647598|21536411
CDD: pfam03114: BAR domain|23420|642|na|2.513580e+02
CDD: smart00326: Src homology 3 domains|22760|133|na|5.518800e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1195|na|4.644610e+02
PRODUCT: bridging integrator 1 isoform 6
TRANSVAR: Transcript Variant: This variant (6) lacks four in-frame exons in the coding region, compared to variant 1. Isoform 6, also called subtype 2, is shorter than isoform 1.
ASSEMBLY: AF001383,AL713697
NM: NM_139349|21536412|na
NP: NP_647599|21536413
CDD: pfam03114: BAR domain|23420|655|na|2.563660e+02
CDD: smart00326: Src homology 3 domains|22760|134|na|5.557320e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1225|na|4.760170e+02
PRODUCT: bridging integrator 1 isoform 7
TRANSVAR: Transcript Variant: This variant (7) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 7, also called IIc2 and S1/R3-c, is shorter than isoform 1 and binds dynamin and synaptojanin.
ASSEMBLY: AF043900,AL713697
NM: NM_139350|21536414|na
NP: NP_647600|21536415
CDD: pfam03114: BAR domain|23420|645|na|2.525140e+02
CDD: smart00326: Src homology 3 domains|22760|133|na|5.518800e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1169|na|4.544460e+02
PRODUCT: bridging integrator 1 isoform 9
TRANSVAR: Transcript Variant: This variant (9) lacks five in-frame exons in the coding region, compared to variant 1. Isoform 9, also called BIN1-10, is shorter than isoform 1 and is ubiquitously expressed.
ASSEMBLY: AF068914,AL713697
NM: NM_139351|21536416|na
NP: NP_647601|21536417
CDD: pfam03114: BAR domain|23420|643|na|2.517440e+02
CDD: smart00326: Src homology 3 domains|22760|133|na|5.518800e+01
CDD: KOG3771: Amphiphysin [Intracellular trafficking, secretion, and vesicular transport]|21550|1069|na|4.159260e+02
PRODUCT: bridging integrator 1 isoform 10
TRANSVAR: Transcript Variant: This variant (10) lacks six in-frame exons in the coding region, compared to variant 1. Isoform 10, also called BIN1-10-13, is shorter than isoform 1 and is ubiquitously expressed.
ASSEMBLY: AF068915,AL713697
CONTIG: NT_005079.12|29792066|na|867058|926315|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_004305|21536381|na
XP: NP_004296|4757748|na
EVID: supported by alignment with mRNA
XM: NM_139343|21536399|na
XP: NP_647593|21536400|na
EVID: supported by alignment with mRNA
XM: NM_139344|21536401|na
XP: NP_647594|21536402|na
EVID: supported by alignment with mRNA
XM: NM_139345|21536403|na
XP: NP_647595|21536404|na
EVID: supported by alignment with mRNA
XM: NM_139346|21536406|na
XP: NP_647596|21536407|na
EVID: supported by alignment with mRNA
XM: NM_139347|21536408|na
XP: NP_647597|21536409|na
EVID: supported by alignment with mRNA
XM: NM_139348|21536410|na
XP: NP_647598|21536411|na
EVID: supported by alignment with mRNA
XM: NM_139349|21536412|na
XP: NP_647599|21536413|na
EVID: supported by alignment with mRNA
XM: NM_139350|21536414|na
XP: NP_647600|21536415|na
EVID: supported by alignment with mRNA
XM: NM_139351|21536416|na
XP: NP_647601|21536417|na
ACCNUM: U83999|2745966|na|na|na
TYPE: g
PROT: AAC23440|2745973|1
ACCNUM: U84004|2745971|na|na|na
TYPE: g
PROT: AAC23440|2745973|1
PROT: AAC23441|2745974|1
ACCNUM: AF001383|2199534|na|na|na
TYPE: m
PROT: AAB61363|2199535|1
ACCNUM: AF004015|2160794|na|na|na
TYPE: m
PROT: AAC51345|2160795|1
ACCNUM: AF043898|3064254|na|na|na
TYPE: m
PROT: AAC39710|3064255|1
ACCNUM: AF043899|3064256|na|na|na
TYPE: m
PROT: AAC39711|3064257|1
ACCNUM: AF043900|3064258|na|na|na
TYPE: m
PROT: AAC39712|3064259|1
ACCNUM: AF043901|3064260|na|na|na
TYPE: m
PROT: AAC39713|3064261|1
ACCNUM: AF068914|3249631|na|na|na
TYPE: m
PROT: AAC24126|3249632|1
ACCNUM: AF068915|3249633|na|na|na
TYPE: m
PROT: AAC24127|3249634|1
ACCNUM: AF068916|3249635|na|na|na
TYPE: m
PROT: AAC24128|3249636|1
ACCNUM: AF068917|3242001|na|na|na
TYPE: m
PROT: AAC23750|3242002|1
ACCNUM: AF068918|3242003|na|na|na
TYPE: m
PROT: AAC23751|3242004|1
ACCNUM: AF070576|3387947|na|na|na
TYPE: m
PROT: AAC28646|3387948|1
ACCNUM: AL713697|19584409|na|na|na
TYPE: m
PROT: CAD28496|19584410|1
ACCNUM: BC004101|33872695|na|na|na
TYPE: m
PROT: AAH04101|13278633|1
ACCNUM: BT006865|30582568|na|na|na
TYPE: m
PROT: AAP35511|30582569|1
ACCNUM: U68485|3157914|na|na|na
TYPE: m
PROT: AAC17461|3157915|1
ACCNUM: U87558|2160718|na|na|na
TYPE: m
PROT: AAB63263|2160719|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O00499|14916535|0
OFFICIAL_SYMBOL: BIN1
OFFICIAL_GENE_NAME: bridging integrator 1
ALIAS_SYMBOL: AMPH2
ALIAS_SYMBOL: AMPHL
ALIAS_SYMBOL: SH3P9
ALIAS_SYMBOL: MGC10367
ALIAS_SYMBOL: DKFZp547F068
PREFERRED_PRODUCT: bridging integrator 1 isoform 1
PREFERRED_PRODUCT: bridging integrator 1 isoform 10
PREFERRED_PRODUCT: bridging integrator 1 isoform 2
PREFERRED_PRODUCT: bridging integrator 1 isoform 3
PREFERRED_PRODUCT: bridging integrator 1 isoform 4
PREFERRED_PRODUCT: bridging integrator 1 isoform 5
PREFERRED_PRODUCT: bridging integrator 1 isoform 6
PREFERRED_PRODUCT: bridging integrator 1 isoform 7
PREFERRED_PRODUCT: bridging integrator 1 isoform 8
PREFERRED_PRODUCT: bridging integrator 1 isoform 9
SUMMARY: Summary: This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynanim, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described.
CHR: 2
STS: STS-AA039724|2|77577|na|seq_map|epcr
COMP: 36303|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A274[id]+AND+gene[obj_type]&QSTR=bin1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: amphiphysin II
ALIAS_PROT: amphiphysin-like
ALIAS_PROT: box dependant MYC interacting protein 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=193163
UNIGENE: Hs.193163
OMIM: 601248
MAP: 2q14|RefSeq|C|
MAPLINK: default_human_gene|BIN1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=274
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=274[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9015269
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_139343
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_139343
PMID: 14704274,12773571,12668730,12532338,12477932,12183633,11306501,11032017,10738240,10652430,10449755,10036185,9603201,9418903,9395479,9223448,9195986,9182667,9110174,8782822,8725406,8619474
GO: cellular component|actin cytoskeleton|TAS|GO:0015629|GOA|9182667
GO: biological process|cell differentiation|IEA|GO:0030154|GOA|na
GO: biological process|cell proliferation|TAS|GO:0008283|GOA|8782822
GO: biological process|negative regulation of cell cycle|IEA|GO:0045786|GOA|na
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|synaptic transmission|IEA|GO:0007268|GOA|na
GO: biological process|synaptic vesicle endocytosis|IEA|GO:0008099|GOA|na
>>275
LOCUSID: 275
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_000481|44662837|na
NP: NP_000472|44662838
CDD: KOG2770: Aminomethyl transferase [Amino acid transport and metabolism]|20556|1530|na|5.934490e+02
PRODUCT: aminomethyltransferase (glycine cleavage system protein T)
ASSEMBLY: BC044792,D13811
CONTIG: NT_022517.16|37550163|na|49378223|49384040|-|3|reference
EVID: supported by alignment with mRNA
XM: NM_000481|44662837|na
XP: NP_000472|44662838|na
ACCNUM: D14686|485807|na|na|na
TYPE: g
PROT: BAA03512|994761|1
ACCNUM: AK091738|21750179|na|na|na
TYPE: m
ACCNUM: AK096062|21755459|na|na|na
TYPE: m
ACCNUM: BC007546|14043120|na|na|na
TYPE: m
PROT: AAH07546|48257290|2
ACCNUM: BC044792|28279976|na|na|na
TYPE: m
ACCNUM: D13811|391720|na|na|na
TYPE: m
PROT: BAA02967|391721|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P48728|1346122|0
OFFICIAL_SYMBOL: AMT
OFFICIAL_GENE_NAME: aminomethyltransferase (glycine cleavage system protein T)
ALIAS_SYMBOL: GCE
ALIAS_SYMBOL: NKH
ALIAS_SYMBOL: GCST
PREFERRED_PRODUCT: aminomethyltransferase (glycine cleavage system protein T)
SUMMARY: Summary: The enzyme system for cleavage of glycine (glycine cleavage system; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase; MIM 238300), H protein (a lipoic acid-containing protein; MIM 238330), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase; MIM 238331). Glycine encephalopathy (GCE; MIM 605899) may be due to a defect in any one of these enzymes.[supplied by OMIM]
CHR: 3
STS: RH17372|3|4660|na|seq_map|epcr
STS: D3S3344|3|65202|D3S3344|seq_map|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=102
UNIGENE: Hs.102
OMIM: 238310
ECNUM: 2.1.2.10
MAP: 3p21.2-p21.1|RefSeq|C|
MAPLINK: default_human_gene|AMT
PHENOTYPE: Glycine encephalopathy
PHENOTYPE_ID: 605899
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=275
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=275[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132138
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000481
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000481
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=238310
DB_DESCR: KEGG pathway: Nitrogen metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00910+275
DB_DESCR: KEGG pathway: One carbon pool by folate
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00670+275
DB_DESCR: KEGG pathway: Glycine, serine and threonine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00260+275
PMID: 14702039,12477932,9600239,8188235,1993704
GO: molecular function|aminomethyltransferase activity|IEA|GO:0004047|GOA|na
GO: biological process|glycine catabolism|TAS|GO:0006546|GOA|9600239
GO: cellular component|glycine cleavage complex|NR|GO:0005960|GOA|na
GO: cellular component|mitochondrion|TAS|GO:0005739|GOA|8188235
GO: molecular function|transaminase activity|IEA|GO:0008483|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>276
LOCUSID: 276
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_004038|40254481|na
NP: NP_004029|40254482
CDD: KOG2212: Alpha-amylase [Carbohydrate transport and metabolism]|19998|2211|na|8.558380e+02
PRODUCT: amylase, alpha 1A; salivary
ASSEMBLY: BC063129
CONTIG: NT_029860.11|37546778|na|274465|283263|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_004038|40254481|na
XP: NP_004029|40254482|na
ACCNUM: M18671|178554|na|na|na
TYPE: g
PROT: AAA58368|463065|1
ACCNUM: M18674|178586|na|na|na
TYPE: g
PROT: AAA16183|12656994|2
ACCNUM: M18715|178574|na|na|na
TYPE: g
PROT: AAA52279|178585|1
ACCNUM: M18786|178583|na|na|na
TYPE: g
PROT: AAA52279|178585|1
ACCNUM: BC063129|38648818|na|na|na
TYPE: m
PROT: AAH63129|38648819|1
ACCNUM: BC069347|47481172|na|na|na
TYPE: m
PROT: AAH69347|47481173|1
ACCNUM: BC069463|47481185|na|na|na
TYPE: m
PROT: AAH69463|47481186|1
ACCNUM: BC070302|47124257|na|na|na
TYPE: m
PROT: AAH70302|47124258|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P04745|1351933|0
OFFICIAL_SYMBOL: AMY1A
OFFICIAL_GENE_NAME: amylase, alpha 1A; salivary
ALIAS_SYMBOL: AMY1
PREFERRED_PRODUCT: amylase, alpha 1A; salivary
CHR: 1
STS: SHGC-32938|1|50958|na|na|epcr
STS: RH121120|-|134115|na|na|epcr
ALIAS_PROT: Amylase, salivary, alpha-1A
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274376
UNIGENE: Hs.274376
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=300280
UNIGENE: Hs.300280
OMIM: 104700
ECNUM: 3.2.1.1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_gene|AMY1A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=276
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=276[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120544
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004038
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004038
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+276
PMID: 14637141,12782315,12477932,6610603,6196780,2450054,2423416
GO: molecular function|alpha-amylase activity|TAS|GO:0004556|GOA|2423416
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|carbohydrate metabolism|TAS|GO:0005975|GOA|2423416
GO: biological process|digestion|TAS|GO:0007586|GOA|2423416
GO: molecular function|hydrolase activity, acting on glycosyl bonds|IEA|GO:0016798|GOA|na
>>277
LOCUSID: 277
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AMY1B
OFFICIAL_GENE_NAME: amylase, alpha 1B; salivary
ALIAS_SYMBOL: AMY1
CHR: 1
ALIAS_PROT: Amylase, salivary, alpha-1B
OMIM: 104701
MAP: 1p21|HUGO|C|
MAPLINK: default_human_cyto|AMY1B
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120545
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+277
>>278
LOCUSID: 278
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AMY1C
OFFICIAL_GENE_NAME: amylase, alpha 1C; salivary
ALIAS_SYMBOL: AMY1
CHR: 1
ALIAS_PROT: Amylase, salivary, alpha-1C
OMIM: 104702
MAP: 1p21|HUGO|C|
MAPLINK: default_human_cyto|AMY1C
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120546
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+278
>>279
LOCUSID: 279
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_000699|21359830|na
NP: NP_000690|4502085
CDD: KOG2212: Alpha-amylase [Carbohydrate transport and metabolism]|19998|2221|na|8.596900e+02
PRODUCT: amylase, alpha 2A; pancreatic
ASSEMBLY: BC007060
CONTIG: NT_029860.11|37546778|na|236089|244490|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_000699|21359830|na
XP: NP_000690|4502085|na
ACCNUM: M18785|178565|na|na|na
TYPE: g
PROT: AAA52280|178567|1
ACCNUM: BC007060|13937900|na|na|na
TYPE: m
PROT: AAH07060|13937901|1
ACCNUM: M28443|529396|na|na|na
TYPE: m
PROT: AAA51724|529397|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P04746|113803|0
OFFICIAL_SYMBOL: AMY2A
OFFICIAL_GENE_NAME: amylase, alpha 2A; pancreatic
ALIAS_SYMBOL: AMY2
PREFERRED_PRODUCT: amylase, alpha 2A; pancreatic
CHR: 1
STS: RH121120|-|134115|na|na|epcr
ALIAS_PROT: Amylase, pancreatic, alpha-2A
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=300280
UNIGENE: Hs.300280
OMIM: 104650
ECNUM: 3.2.1.1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_gene|AMY2A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=279
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=279[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120547
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000699
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000699
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+279
PMID: 12477932,6336237,2788608,2450054,2423416
GO: molecular function|alpha-amylase activity|TAS|GO:0004556|GOA|6336237
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|carbohydrate metabolism|NR|GO:0005975|GOA|2788608
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|6336237
GO: molecular function|hydrolase activity, acting on glycosyl bonds|IEA|GO:0016798|GOA|na
>>280
LOCUSID: 280
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_020978|20070311|na
NP: NP_066188|10280622
CDD: KOG2212: Alpha-amylase [Carbohydrate transport and metabolism]|19998|2243|na|8.681650e+02
PRODUCT: amylase, alpha 2B; pancreatic
ASSEMBLY: BC011179
CONTIG: NT_029860.11|37546778|na|173664|198241|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_020978|20070311|na
XP: NP_066188|10280622|na
ACCNUM: D90088|219462|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90089|219463|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90090|219464|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90091|219465|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90092|219466|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90093|219467|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90094|219468|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90095|219469|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90096|219470|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90097|219471|na|na|na
TYPE: g
PROT: BAA14130|780137|1
ACCNUM: D90098|219461|na|na|na
TYPE: g
ACCNUM: D90099|219460|na|na|na
TYPE: g
ACCNUM: AK095605|21754898|na|na|na
TYPE: m
ACCNUM: AK127047|34533781|na|na|na
TYPE: m
ACCNUM: AL832291|21732838|na|na|na
TYPE: m
ACCNUM: BC011179|15029907|na|na|na
TYPE: m
PROT: AAH11179|15029908|1
ACCNUM: BC020861|18088606|na|na|na
TYPE: m
PROT: AAH20861|18088607|1
ACCNUM: M24895|537511|na|na|na
TYPE: m
PROT: AAA35525|537512|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P19961|113789|0
OFFICIAL_SYMBOL: AMY2B
OFFICIAL_GENE_NAME: amylase, alpha 2B; pancreatic
ALIAS_SYMBOL: AMY2
PREFERRED_PRODUCT: amylase, alpha 2B; pancreatic
CHR: 1
STS: SHGC-75240|-|5418|na|na|epcr
STS: SHGC-34189|1|25067|na|seq_map|epcr
STS: RH80323|3|91267|na|na|epcr
ALIAS_PROT: Amylase, pancreatic, alpha-2B
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=288166
UNIGENE: Hs.288166
OMIM: 104660
ECNUM: 3.2.1.1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_gene|AMY2B
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=280
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=280[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120548
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020978
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020978
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+280
PMID: 14702039,12477932,2701942,2452973,2401405
GO: molecular function|alpha-amylase activity|TAS|GO:0004556|GOA|2401405
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|carbohydrate metabolism|NR|GO:0005975|GOA|2401405
GO: biological process|digestion|TAS|GO:0007586|GOA|2401405
GO: molecular function|hydrolase activity, acting on glycosyl bonds|IEA|GO:0016798|GOA|na
>>281
LOCUSID: 281
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AMYP1
OFFICIAL_GENE_NAME: amylase, alpha pseudogene 1
ALIAS_SYMBOL: AMY2P
CHR: 1
MAP: 1p21|HUGO|C|
MAPLINK: default_human_cyto|AMYP1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120549
>>282
LOCUSID: 282
LOCUS_CONFIRMED: yes
LOCUS_TYPE: region
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANCR
OFFICIAL_GENE_NAME: Angelman syndrome chromosome region
CHR: 15
OMIM: 105830
MAP: 15q11-q12|HUGO|C|
MAPLINK: default_human_cyto|ANCR
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119678
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=105830
DB_DESCR: Genes and Disease
DB_LINK: http://www.ncbi.nlm.nih.gov/disease/angelman.html
>>283
LOCUSID: 283
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_001145|42716312|na
NP: NP_001136|4557313
CDD: pfam00074: Pancreatic ribonuclease|7438|386|na|1.528000e+02
PRODUCT: angiogenin, ribonuclease, RNase A family, 5 precursor
ASSEMBLY: BQ773604,CB157060,CB963791
CONTIG: NT_026437.10|29736559|na|1081740|1082468|+|14|reference
EVID: supported by alignment with mRNA
XM: NM_001145|42716312|na
XP: NP_001136|4557313|na
ACCNUM: AF449647|18307842|na|na|na
TYPE: g
PROT: AAL67710|18307843|1
ACCNUM: AF449648|18307844|na|na|na
TYPE: g
PROT: AAL67711|18307845|1
ACCNUM: AF449649|18307846|na|na|na
TYPE: g
PROT: AAL67712|18307847|1
ACCNUM: AF449650|18307848|na|na|na
TYPE: g
PROT: AAL67713|18307849|1
ACCNUM: AF449651|18307850|na|na|na
TYPE: g
PROT: AAL67714|18307851|1
ACCNUM: M11567|178249|na|na|na
TYPE: g
PROT: AAA51678|178250|1
ACCNUM: BC054880|33392769|na|na|na
TYPE: m
PROT: AAH54880|33392770|1
ACCNUM: BQ773604|21982080|na|na|na
TYPE: m
ACCNUM: CB157060|28142190|na|na|na
TYPE: m
ACCNUM: CB963791|30219909|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P03950|113873|0
OFFICIAL_SYMBOL: ANG
OFFICIAL_GENE_NAME: angiogenin, ribonuclease, RNase A family, 5
ALIAS_SYMBOL: RNASE5
PREFERRED_PRODUCT: angiogenin, ribonuclease, RNase A family, 5 precursor
SUMMARY: Summary: The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease.
CHR: 14
STS: G36057|-|15310|na|na|epcr
STS: SHGC-35580|-|20644|na|na|epcr
STS: RH68464|-|32075|na|na|epcr
STS: G20814|-|47084|na|na|epcr
STS: D14S1204|-|61732|D14S1204|na|epcr
STS: D14S1338|14|69799|D14S1338|seq_map|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=283749
UNIGENE: Hs.283749
OMIM: 105850
ECNUM: 3.1.27.-
MAP: 14q11.1-q11.2|HUGO|C|
MAPLINK: default_human_gene|ANG
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=283
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119679
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001145
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001145
PMID: 15182336,15128420,14671622,14593238,12705339,12515546,12477932,12209593,12168899,11984825,11851402,11847008,11782452,11374889,2866795,2866794,1978563
GO: biological process|RNA catabolism|TAS|GO:0006401|GOA|2866794
GO: biological process|angiogenesis|IEA|GO:0001525|GOA|na
GO: molecular function|endonuclease activity|IEA|GO:0004519|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|negative regulation of protein biosynthesis|IEA|GO:0017148|GOA|na
GO: molecular function|nucleic acid binding|IEA|GO:0003676|GOA|na
GO: molecular function|pancreatic ribonuclease activity|TAS|GO:0004522|GOA|2866794
>>284
LOCUSID: 284
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001146|21328452|na
NP: NP_001137|20532340
CDD: KOG2579: Ficolin and related extracellular proteins [General function prediction only]|20365|885|na|3.451780e+02
PRODUCT: angiopoietin 1 isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
ASSEMBLY: AL700429,AW069541,D13628
NM: NM_139290|21328450|na
NP: NP_647451|21328451
CDD: KOG2579: Ficolin and related extracellular proteins [General function prediction only]|20365|579|na|2.273070e+02
PRODUCT: angiopoietin 1 isoform b
TRANSVAR: Transcript Variant: This variant (2) differs in the 3' UTR and coding region (compared to variant 1), resulting in a protein (isoform b) that maintains the reading frame but is shorter at the C-terminus compared to isoform a.
ASSEMBLY: AL700429,BC029406,D13628
CONTIG: NT_008046.14|37555983|na|21479883|21728427|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_001146|21328452|na
XP: NP_001137|20532340|na
EVID: supported by alignment with mRNA
XM: NM_139290|21328450|na
XP: NP_647451|21328451|na
ACCNUM: AB084454|20387247|na|na|na
TYPE: m
PROT: BAB91325|20387248|1
ACCNUM: AL700429|19620962|na|na|na
TYPE: m
ACCNUM: AW069541|6024539|na|na|na
TYPE: m
ACCNUM: AY121504|22000978|na|na|na
TYPE: m
PROT: AAM81745|22000979|1
ACCNUM: AY124380|22203640|na|na|na
TYPE: m
PROT: AAM92271|22203641|1
ACCNUM: BC029406|20810212|na|na|na
TYPE: m
PROT: AAH29406|20810213|1
ACCNUM: BX648814|34367979|na|na|na
TYPE: m
ACCNUM: D13628|14133266|na|na|na
TYPE: m
PROT: BAA02793|14133267|2
ACCNUM: U83508|1907326|na|na|na
TYPE: m
PROT: AAB50557|1907327|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q15389|12229574|0
OFFICIAL_SYMBOL: ANGPT1
OFFICIAL_GENE_NAME: angiopoietin 1
ALIAS_SYMBOL: AGP1
ALIAS_SYMBOL: AGPT
ALIAS_SYMBOL: ANG1
ALIAS_SYMBOL: KIAA0003
PREFERRED_PRODUCT: angiopoietin 1 isoform a
PREFERRED_PRODUCT: angiopoietin 1 isoform b
SUMMARY: Summary: Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Two transcript variants encoding different isoforms have been found for this gene.
CHR: 8
STS: RH25244|8|16614|na|seq_map|epcr
STS: RH17369|8|81911|na|seq_map|epcr
COMP: 20309|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A284[id]+AND+gene[obj_type]&QSTR=angpt1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2463
UNIGENE: Hs.2463
OMIM: 601667
MAP: 8q22.3-q23|RefSeq|C|
MAPLINK: default_human_gene|ANGPT1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=284
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=284[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6045057
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001146
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001146
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA0003
PMID: 15161644,15019820,14991531,14715662,14665640,12958167,12890486,12816861,12810673,12717391,12649156,12612904,12477932,12402160,12243755,12239588,12213874,12138242,11967990,11891175,11870550,11856872,11827452,11776343,11729102,10766762,10343124,10051567,9545648,8980223,7642106,7584028,7584026
GO: biological process|angiogenesis|IEA|GO:0001525|GOA|na
GO: molecular function|receptor binding|TAS|GO:0005102|GOA|8980223,10766762
GO: biological process|signal transduction|TAS|GO:0007165|GOA|10766762
>>285
LOCUSID: 285
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001147|4557314|na
NP: NP_001138|4557315
CDD: pfam02591: Uncharacterized ACR, COG1579|3098|92|na|3.957810e+01
CDD: cd00087: Fibrinogen-related domains (FReDs)|16526|801|na|3.125490e+02
PRODUCT: angiopoietin 2
ASSEMBLY: AF004327
CONTIG: NT_023736.16|37552484|na|6347601|6408161|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_001147|4557314|na
XP: NP_001138|4557315|na
ACCNUM: AB009865|7768834|na|na|na
TYPE: m
PROT: BAA95590|7768835|1
ACCNUM: AF004327|2257932|na|na|na
TYPE: m
PROT: AAB63190|2257933|1
ACCNUM: AF187858|8570646|na|na|na
TYPE: m
PROT: AAF76526|8570647|1
ACCNUM: AF218015|10441959|na|na|na
TYPE: m
PROT: AAG17257|10441960|1
ACCNUM: AK075219|22761166|na|na|na
TYPE: m
ACCNUM: BC022490|18490680|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O15123|12229555|0
OFFICIAL_SYMBOL: ANGPT2
OFFICIAL_GENE_NAME: angiopoietin 2
ALIAS_SYMBOL: ANG2
PREFERRED_PRODUCT: angiopoietin 2
SUMMARY: Summary: Naturally occurring antagonist for both ANGPT1 and TIE2; expressed only at the sites of vascular remodeling; similar to angiopoietin-1
CHR: 8
STS: RH93262|8|84317|na|seq_map|epcr
COMP: 22401|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A285[id]+AND+gene[obj_type]&QSTR=angpt2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=115181
UNIGENE: Hs.115181
OMIM: 601922
MAP: 8p23.1|RefSeq|C|
MAPLINK: default_human_gene|ANGPT2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=285
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6381312
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001147
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001147
PMID: 15161644,15003510,14991531,14976056,14768007,14702352,14568550,14556828,14507641,12861074,12810677,12717391,12612904,12477932,12213874,12176040,12138242,11861279,11856872,10766762,10343124,10051567,9927494,9545648,9204896
GO: biological process|angiogenesis|IEA|GO:0001525|GOA|na
GO: biological process|cell growth and/or maintenance|TAS|GO:0008151|GOA|10766762
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|10766762
GO: molecular function|receptor binding|TAS|GO:0005102|GOA|9204896,10766762
GO: biological process|signal transduction|TAS|GO:0007165|GOA|10766762
>>286
LOCUSID: 286
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000037|10947039|na
NP: NP_000028|10947040
CDD: pfam00791: ZU5 domain|7773|392|na|1.550250e+02
CDD: cd00204: ankyrin repeats|14848|342|na|1.359730e+02
CDD: KOG4177: Ankyrin [Cell wall/membrane/envelope biogenesis]|21954|3036|na|1.173600e+03
CDD: KOG0510: Ankyrin repeat protein [General function prediction only]|18305|498|na|1.959920e+02
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|22658|219|na|8.856040e+01
CDD: KOG0512: Fetal globin-inducing factor (contains ankyrin repeats) [Transcription]|18307|132|na|5.515230e+01
PRODUCT: ankyrin 1 isoform 3
TRANSVAR: Transcript Variant:  This transcript variant (3) results from the use of alternate donor and acceptor splice sites in exon 41, and encodes a 1880 amino acid isoform (3) with a different basic, carboxy-terminus, compared to the acidic carboxy-terminus of isoform 1.
ASSEMBLY: AH005094,M28880
NM: NM_020475|10947035|na
NP: NP_065208|10947036
CDD: pfam00791: ZU5 domain|7773|392|na|1.550250e+02
CDD: cd00204: ankyrin repeats|14848|341|na|1.355880e+02
CDD: KOG4177: Ankyrin [Cell wall/membrane/envelope biogenesis]|21954|3035|na|1.173220e+03
CDD: KOG0510: Ankyrin repeat protein [General function prediction only]|18305|498|na|1.959920e+02
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|22658|219|na|8.856040e+01
CDD: KOG0512: Fetal globin-inducing factor (contains ankyrin repeats) [Transcription]|18307|131|na|5.476710e+01
PRODUCT: ankyrin 1 isoform 4
TRANSVAR: Transcript Variant:  This transcript variant (4) results from the use of an alternate acceptor splice site in exon 41, and encodes an isoform (4) which is 25 amino acids shorter than isoform 1.
ASSEMBLY: AH005094,M28880
NM: NM_020476|10947037|na
NP: NP_065209|10947038
CDD: pfam00791: ZU5 domain|7773|392|na|1.550250e+02
CDD: cd00204: ankyrin repeats|14848|341|na|1.355880e+02
CDD: KOG4177: Ankyrin [Cell wall/membrane/envelope biogenesis]|21954|3037|na|1.173990e+03
CDD: KOG0510: Ankyrin repeat protein [General function prediction only]|18305|498|na|1.959920e+02
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|22658|220|na|8.894560e+01
CDD: KOG0512: Fetal globin-inducing factor (contains ankyrin repeats) [Transcription]|18307|131|na|5.476710e+01
PRODUCT: ankyrin 1 isoform 1
TRANSVAR: Transcript Variant:  This transcript variant (1) encodes the longest (1881 amino acids) and the most predominant erythrocytic isoform (1), also known as isoform 2.1.
ASSEMBLY: AH005094,X16609
NM: NM_020477|10947041|na
NP: NP_065210|10947042
CDD: pfam00791: ZU5 domain|7773|391|na|1.546400e+02
CDD: cd00204: ankyrin repeats|14848|339|na|1.348170e+02
CDD: KOG4177: Ankyrin [Cell wall/membrane/envelope biogenesis]|21954|3032|na|1.172060e+03
CDD: KOG0510: Ankyrin repeat protein [General function prediction only]|18305|497|na|1.956070e+02
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|22658|222|na|8.971600e+01
CDD: KOG0512: Fetal globin-inducing factor (contains ankyrin repeats) [Transcription]|18307|132|na|5.515230e+01
PRODUCT: ankyrin 1 isoform 2
TRANSVAR: Transcript Variant:  This transcript variant (2) encodes the most prominent of the minor erythrocytic isoforms (2), also known as isoform 2.2. It is created by the use of an alternate acceptor splice site in exon 38, resulting in an in-frame deletion of 486 bases (162 amino acids). This isoform exhibits greater affinity for spectrin binding than isoform 1.
ASSEMBLY: AH005094,X16609
NM: NM_020478|10947043|na
NP: NP_065211|10947044
PRODUCT: ankyrin 1 isoform 5
TRANSVAR: Transcript Variant:  This transcript variant (5) encodes a truncated muscle-specific isoform (155 amino acids) of ankyrin 1. It results from the use of a muscle-specific promoter and a novel 5' exon 1 located in intron 39, followed by sequences encoded by exons 40, 41 and 42 of the erythroid ankyrin 1 gene. The expression of this transcript is restricted to cardiac and skeletal muscle tissues.
ASSEMBLY: AF005213
NM: NM_020479|10947045|na
NP: NP_065212|10947046
PRODUCT: ankyrin 1 isoform 6
TRANSVAR: Transcript Variant:  This transcript variant (6) encodes a truncated muscle-specific isoform (133 amino acids) of ankyrin 1 like transcript variant 5, however, it results from the use of an alternate acceptor splice site in exon 41.
ASSEMBLY: AF005213
NM: NM_020480|10947047|na
NP: NP_065213|10947048
PRODUCT: ankyrin 1 isoform 7
TRANSVAR: Transcript Variant:  This transcript variant (7) encodes a truncated muscle-specific isoform (109 amino acids) of ankyrin 1 like transcript variant 5, however, it results from splicing of exon 40 to exon 42, and uses a different termination codon. It lacks sequence encoded by exon 41.
ASSEMBLY: AF005213
NM: NM_020481|10947049|na
NP: NP_065214|10947050
PRODUCT: ankyrin 1 isoform 8
TRANSVAR: Transcript Variant:  This transcript variant (8) encodes a truncated muscle-specific isoform (74 amino acids) of ankyrin 1 like transcript variant 5, however, it results from the use of an alternate donor splice site in exon 39 followed by splicing to an alternate site in exon 41. It lacks sequence encoded by exon 40.
ASSEMBLY: AF005213
CONTIG: NT_008251.14|37556153|na|3573009|3717405|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_000037|10947039|na
XP: NP_000028|10947040|na
EVID: supported by alignment with mRNA
XM: NM_020475|10947035|na
XP: NP_065208|10947036|na
EVID: supported by alignment with mRNA
XM: NM_020476|10947037|na
XP: NP_065209|10947038|na
EVID: supported by alignment with mRNA
XM: NM_020477|10947041|na
XP: NP_065210|10947042|na
EVID: supported by alignment with mRNA
XM: NM_020478|10947043|na
XP: NP_065211|10947044|na
EVID: supported by alignment with mRNA
XM: NM_020479|10947045|na
XP: NP_065212|10947046|na
EVID: supported by alignment with mRNA
XM: NM_020480|10947047|na
XP: NP_065213|10947048|na
EVID: supported by alignment with mRNA
XM: NM_020481|10947049|na
XP: NP_065214|10947050|na
ACCNUM: S82671|1835916|na|na|na
TYPE: g
PROT: AAB46776|1835917|1
ACCNUM: U49691|1845218|na|na|na
TYPE: g
PROT: AAB47804|1845219|1
ACCNUM: U50092|10048472|na|na|na
TYPE: g
PROT: AAB47805|1845265|1
ACCNUM: U50133|1845263|na|na|na
TYPE: g
PROT: AAB47805|1845265|1
ACCNUM: BC007930|33871781|na|na|na
TYPE: m
PROT: AAH07930|33871782|1
ACCNUM: BC014467|15680228|na|na|na
TYPE: m
ACCNUM: BC030957|21410935|na|na|na
TYPE: m
PROT: AAH30957|21410936|1
ACCNUM: M28880|178645|na|na|na
TYPE: m
PROT: AAA51732|178646|1
ACCNUM: X16609|28701|na|na|na
TYPE: m
PROT: CAA34610|28702|1
PROT: CAA34611|747710|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P16157|113884|0
OFFICIAL_SYMBOL: ANK1
OFFICIAL_GENE_NAME: ankyrin 1, erythrocytic
ALIAS_SYMBOL: ANK
ALIAS_SYMBOL: SPH1
ALIAS_SYMBOL: SPH2
PREFERRED_PRODUCT: ankyrin 1 isoform 1
PREFERRED_PRODUCT: ankyrin 1 isoform 2
PREFERRED_PRODUCT: ankyrin 1 isoform 3
PREFERRED_PRODUCT: ankyrin 1 isoform 4
PREFERRED_PRODUCT: ankyrin 1 isoform 5
PREFERRED_PRODUCT: ankyrin 1 isoform 6
PREFERRED_PRODUCT: ankyrin 1 isoform 7
PREFERRED_PRODUCT: ankyrin 1 isoform 8
SUMMARY: Summary:  Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains.  Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner.  Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation.  Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles.  Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis.  Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described, however, the precise functions of the various isoforms are not known.  Alternative polyadenylation accounting for the different sized erythrocytic ankyrin 1 mRNAs, has also been reported.  Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified.
CHR: 8
STS: SHGC-12309|8|21118|na|seq_map|epcr
STS: D8S2039|-|21269|D8S2039|na|epcr
STS: RH69660|8|24338|na|seq_map|epcr
STS: D8S2329|8|31321|D8S2329|seq_map|epcr
STS: STS-W88737|-|47155|na|na|epcr
STS: D8S329|-|51309|D8S329|na|epcr
STS: RH45454|-|57074|na|na|epcr
STS: GDB:178523|8|66432|na|seq_map|epcr
STS: D8S2070|-|78046|D8S2070|na|epcr
STS: G19345|-|83323|na|na|epcr
STS: RH79857|-|87028|na|na|epcr
STS: RH91316|8|91775|na|seq_map|epcr
STS: G43516|-|94973|na|na|epcr
STS: RH121660|-|134400|na|na|epcr
STS: SHGC-132081|8|170634|na|seq_map|epcr
COMP: 21|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A286[id]+AND+gene[obj_type]&QSTR=ank1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ankyrin-R
ALIAS_PROT: ankyrin-1, erythrocytic
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443711
UNIGENE: Hs.443711
OMIM: 182900
MAP: 8p11.1|RefSeq|C|
MAPLINK: default_human_gene|ANK1
PHENOTYPE: Spherocytosis-2
PHENOTYPE_ID: 182900
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=286
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=286[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118737
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/118737.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000037
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000037
PMID: 12527750,12477932,12444090,12409278,12130521,11427698,10910934,9430667,9235914,8703812,8640229,2137557,1833445,1689849
GO: cellular component|actin cytoskeleton|NR|GO:0015629|GOA|na
GO: cellular component|basolateral plasma membrane|ISS|GO:0016323|GOA|12409278
GO: cellular component|basolateral plasma membrane|NAS|GO:0016323|GOA|12409278
GO: molecular function|cytoskeletal adaptor activity|ISS|GO:0008093|GOA|11427698
GO: molecular function|cytoskeletal adaptor activity|TAS|GO:0008093|GOA|11427698
GO: cellular component|cytoskeleton|NAS|GO:0005856|GOA|1833445
GO: biological process|cytoskeleton organization and biogenesis|NAS|GO:0007010|GOA|9430667
GO: molecular function|enzyme binding|ISS|GO:0019899|GOA|11427698
GO: molecular function|enzyme binding|TAS|GO:0019899|GOA|11427698
GO: biological process|exocytosis|NAS|GO:0006887|GOA|1833445
GO: biological process|maintenance of epithelial cell polarity|ISS|GO:0045199|GOA|11427698
GO: biological process|maintenance of epithelial cell polarity|TAS|GO:0045199|GOA|11427698
GO: cellular component|plasma membrane|NAS|GO:0005886|GOA|9430667
GO: biological process|signal transduction|IEA|GO:0007165|GOA|na
GO: molecular function|spectrin binding|ISS|GO:0030507|GOA|8640229
GO: molecular function|spectrin binding|NAS|GO:0030507|GOA|8640229
GO: molecular function|structural constituent of cytoskeleton|ISS|GO:0005200|GOA|8640229
GO: molecular function|structural constituent of cytoskeleton|TAS|GO:0005200|GOA|8640229
GO: molecular function|structural molecule activity|NAS|GO:0005198|GOA|9430667
>>287
LOCUSID: 287
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001148|10947051|na
NP: NP_001139|10947052
CDD: cd00204: ankyrin repeats|14848|377|na|1.494550e+02
CDD: pfam03154: Atrophin-1 family|24679|116|na|4.913340e+01
CDD: smart00218: Domain present in ZO-1 and Unc5-like netrin receptors|194|340|na|1.349840e+02
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|24191|225|na|9.087680e+01
PRODUCT: ankyrin 2 isoform 1
TRANSVAR: Transcript Variant:  This transcript variant (1) encodes the longer brain isoform (1) of 3957 amino acids. It contains an in-frame insertion of a sequence (between the ankyrin repeat/spectrin binding domains and the carboxy-terminal domain) that encodes an additional 2085 amino acids, compared to transcript variant 2. Studies in rats suggest that it is more highly expressed in young compared to adult brain, and that it is selectively targeted to premyelinated axons.
ASSEMBLY: X56958,Z26634
NM: NM_020977|10947053|na
NP: NP_066187|10947054
CDD: cd00204: ankyrin repeats|14848|348|na|1.382840e+02
CDD: smart00218: Domain present in ZO-1 and Unc5-like netrin receptors|194|348|na|1.380660e+02
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|24191|225|na|9.087680e+01
PRODUCT: ankyrin 2 isoform 2
TRANSVAR: Transcript Variant:  This transcript variant (2) lacks the region encoding the additional 2085 amino acids present in transcript variant 1, and codes for the shorter brain isoform (2) of 1872 amino acids. It represents the major form of ankyrin in adult brain.
ASSEMBLY: X56958
CONTIG: NT_016354.16|37539910|na|38466000|38798398|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_001148|10947051|na
XP: NP_001139|10947052|na
EVID: supported by alignment with mRNA
XM: NM_020977|10947053|na
XP: NP_066187|10947054|na
ACCNUM: M37123|178647|na|na|na
TYPE: g
PROT: AAA62828|178648|1
ACCNUM: BX537758|31873713|na|na|na
TYPE: m
PROT: CAD97827|31873714|1
ACCNUM: X56957|29488|na|na|na
TYPE: m
PROT: CAA40278|29489|1
ACCNUM: X56958|4803677|na|na|na
TYPE: m
PROT: CAA40279|4803678|2
ACCNUM: Z26634|4803662|na|na|na
TYPE: m
PROT: CAB42644|4803663|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q01484|1703310|0
OFFICIAL_SYMBOL: ANK2
OFFICIAL_GENE_NAME: ankyrin 2, neuronal
ALIAS_SYMBOL: LQT4
ALIAS_SYMBOL: ANKYRIN-B
PREFERRED_PRODUCT: ankyrin 2 isoform 1
PREFERRED_PRODUCT: ankyrin 2 isoform 2
SUMMARY: Summary:  Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains.  Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner.  Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation.  Ankyrin 2 is predominantly expressed, and the major ankyrin isoform in the brain. It is a distinct gene product from ankyrin 1, with which it shares similarity in the amino-terminal ankyrin repeat and the spectrin binding domains, however, the carboxy-terminus is unique.  Alternatively spliced transcripts, encoding different isoforms of ankyrin 2, have been described.
CHR: 4
STS: WIAF-2193|4|5702|na|seq_map|epcr
STS: NIB1562|4|13305|na|seq_map|epcr
STS: SHGC-11962|4|14677|na|seq_map|epcr
STS: D4S2542E|4|23040|D4S2542E|seq_map|epcr
STS: WI-19148|4|64392|na|seq_map|epcr
STS: SHGC-23907|-|74347|na|na|epcr
STS: SHGC-83197|-|95789|na|na|epcr
STS: SHGC-81181|-|102006|na|na|epcr
STS: D4S2309|-|149363|D4S2309|na|epcr
COMP: 890|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/human-chr4&query=e%3A287[id]+AND+gene[obj_type]&QSTR=ank2&cmd=focus&fill=10|Rat
ALIAS_PROT: ankyrin, brain
ALIAS_PROT: ankyrin, neuronal
ALIAS_PROT: Long QT syndrome-4
ALIAS_PROT: ankyrin, nonerythroid
ALIAS_PROT: ankyrin-2, nonerythrocytic
ALIAS_PROT: long (electrocardiographic) QT syndrome 4
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409783
UNIGENE: Hs.409783
OMIM: 106410
MAP: 4q25-q27|HUGO|C|
MAPLINK: default_human_gene|ANK2
PHENOTYPE: Long QT syndrome 4
PHENOTYPE_ID: 600919
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=287
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=287[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127607
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:682072
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001148
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001148
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=106410
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=600919
DB_DESCR: The Long QT Syndrome Database
DB_LINK: http://www.mssm.edu/crc/mutations/schindler.html
PMID: 15075330,14657231,12571597,11781319,8253844,7485162,1833308,1830053
GO: cellular component|actin cytoskeleton|NR|GO:0015629|GOA|na
GO: cellular component|membrane|NR|GO:0016020|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: biological process|signal transduction|IEA|GO:0007165|GOA|na
GO: molecular function|structural constituent of cytoskeleton|NR|GO:0005200|GOA|na
>>288
LOCUSID: 288
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001149|32967598|na
NP: NP_001140|32967599
CDD: smart00218: Domain present in ZO-1 and Unc5-like netrin receptors|194|309|na|1.230430e+02
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|24191|246|na|9.896600e+01
PRODUCT: ankyrin 3 isoform 2
TRANSVAR: Transcript Variant: This variant (2) has multiple differences in the 5' UTR and coding sequence compared to variant 1, resulting in an isoform (2) which is considerably shorter and different compared to isoform 1.
ASSEMBLY: AL136710,BG427669,U13616
NM: NM_020987|32967600|na
NP: NP_066267|32967601
CDD: cd00204: ankyrin repeats|14848|360|na|1.429070e+02
CDD: smart00248: ankyrin repeats|24230|99|na|4.185650e+01
CDD: COG0666: FOG: Ankyrin repeat [General function prediction only]|10535|158|na|6.570050e+01
CDD: smart00218: Domain present in ZO-1 and Unc5-like netrin receptors|194|319|na|1.268950e+02
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|24191|243|na|9.781040e+01
PRODUCT: ankyrin 3 isoform 1
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
ASSEMBLY: U13616
CONTIG: NT_008583.16|37551286|na|10339314|10700643|-|10|reference
EVID: supported by alignment with mRNA
XM: NM_001149|32967598|na
XP: NP_001140|32967599|na
EVID: supported by alignment with mRNA
XM: NM_020987|32967600|na
XP: NP_066267|32967601|na
ACCNUM: AK092361|21750938|na|na|na
TYPE: m
ACCNUM: AK092527|21751143|na|na|na
TYPE: m
PROT: BAC03910|21751144|1
ACCNUM: AK126851|34533503|na|na|na
TYPE: m
PROT: BAC86721|34533504|1
ACCNUM: AL136710|12052939|na|na|na
TYPE: m
PROT: CAB66645|12052940|1
ACCNUM: BG427669|13334175|na|na|na
TYPE: m
ACCNUM: BX537917|31873944|na|na|na
TYPE: m
PROT: CAD97900|31873945|1
ACCNUM: BX648574|34367736|na|na|na
TYPE: m
ACCNUM: U13616|608024|na|na|na
TYPE: m
PROT: AAA64834|608025|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q12955|21759000|0
OFFICIAL_SYMBOL: ANK3
OFFICIAL_GENE_NAME: ankyrin 3, node of Ranvier (ankyrin G)
ALIAS_SYMBOL: ANKYRIN-G
PREFERRED_PRODUCT: ankyrin 3 isoform 1
PREFERRED_PRODUCT: ankyrin 3 isoform 2
SUMMARY: Summary: Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Alternatively spliced variants may be expressed in other tissues. Although multiple transcript variants encoding several different isoforms have been found for this gene, the full-length nature of only two have been characterized.
CHR: 10
STS: RH64832|10|5848|na|seq_map|epcr
STS: SHGC-12959|10|10778|na|seq_map|epcr
STS: D10S1794|-|23247|D10S1794|na|epcr
STS: SHGC-52807|-|49125|na|na|epcr
STS: G15868|10|51313|na|seq_map|epcr
STS: G42656|-|94556|na|na|epcr
STS: SHGC-89295|-|104929|na|na|epcr
STS: RH122723|-|133994|na|na|epcr
STS: RH122925|-|135222|na|na|epcr
STS: G63028|-|140153|na|na|epcr
STS: SHGC-146981|-|175542|na|na|epcr
STS: SHGC-155440|-|185199|na|na|epcr
COMP: 10868|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A288[id]+AND+gene[obj_type]&QSTR=ank3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ankyrin-3, node of Ranvier
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440478
UNIGENE: Hs.440478
OMIM: 600465
MAP: 10q21|HUGO|C|
MAPLINK: default_human_gene|ANK3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=288
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=288[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:424503
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020987
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020987
PMID: 14702039,12507143,11950515,11781319,8666667,7836469,7665168
GO: cellular component|Golgi apparatus|TAS|GO:0005794|GOA|8666667
GO: biological process|cytoskeletal anchoring|TAS|GO:0007016|GOA|7836469
GO: cellular component|cytoskeleton|NR|GO:0005856|GOA|na
GO: cellular component|cytoskeleton|IEA|GO:0005856|GOA|na
GO: cellular component|endoplasmic reticulum|TAS|GO:0005783|GOA|8666667
GO: biological process|protein targeting|NAS|GO:0006605|GOA|7836469
GO: biological process|signal transduction|IEA|GO:0007165|GOA|na
GO: molecular function|structural constituent of cytoskeleton|NR|GO:0005200|GOA|na
>>289
LOCUSID: 289
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANOP1
OFFICIAL_GENE_NAME: anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)
CHR: X
ALIAS_PROT: Anophthalmos-1 (with mental retardation but without anomalies)
OMIM: 301590
MAP: Xq27-q28|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301590">OMIM</a>|C|
MAPLINK: default_human_cyto|ANOP1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128454
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=301590
PMID: 1679229
>>290
LOCUSID: 290
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001150|4502094|na
NP: NP_001141|4502095
CDD: KOG1046: Puromycin-sensitive aminopeptidase and related aminopeptidases [Amino acid transport and metabolism, Posttranslational modification, protein turnover, chaperones]|18839|2062|na|7.985560e+02
PRODUCT: membrane alanine aminopeptidase precursor
ASSEMBLY: M22324
CONTIG: NT_010274.15|29802090|na|5293653|5315461|-|15|reference
EVID: supported by alignment with mRNA
XM: NM_001150|4502094|na
XP: NP_001141|4502095|na
ACCNUM: AJ426050|25136917|na|na|na
TYPE: g
PROT: CAD19802|25136918|1
ACCNUM: AJ427985|27734471|na|na|na
TYPE: g
PROT: CAD20931|27734472|1
ACCNUM: M55522|178532|na|na|na
TYPE: g
PROT: AAA83399|178533|1
ACCNUM: BC058928|37590639|na|na|na
TYPE: m
PROT: AAH58928|37590640|1
ACCNUM: M22324|178535|na|na|na
TYPE: m
PROT: AAA51719|178536|1
ACCNUM: X13276|28677|na|na|na
TYPE: m
PROT: CAA31640|28678|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P15144|29840829|0
OFFICIAL_SYMBOL: ANPEP
OFFICIAL_GENE_NAME: alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150)
ALIAS_SYMBOL: CD13
ALIAS_SYMBOL: LAP1
ALIAS_SYMBOL: PEPN
ALIAS_SYMBOL: gp150
PREFERRED_PRODUCT: membrane alanine aminopeptidase precursor
SUMMARY: Summary: Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma.
CHR: 15
STS: D2S2822|15|30484|D2S2822|seq_map|epcr
STS: D15S1186|15|68438|D15S1186|seq_map|epcr
COMP: 891|15|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=15&MAPS=genes-r-org/rat-chr/human%3A15,genes-r-org/mouse-chr/human%3A15,genes-r-org/human-chr15&query=e%3A290[id]+AND+gene[obj_type]&QSTR=anpep&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aminopeptidase M
ALIAS_PROT: aminopeptidase N
ALIAS_PROT: microsomal aminopeptidase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1239
UNIGENE: Hs.1239
OMIM: 151530
ECNUM: 3.4.11.2
MAP: 15q25-q26|HUGO|C|
MAPLINK: default_human_gene|ANPEP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=290
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=290[loc]&TAXID=9606
BUTTON: prow.gif
LINK: http://www.ncbi.nlm.nih.gov/prow/guide/1880618372_g.htm
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118728
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001150
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001150
DB_DESCR: KEGG pathway: Glutathione metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00480+290
PMID: 14507917,12675232,12634402,12477932,12443882,12406907,11999577,11774469,10734069,2903074,2901990,2564851,2428842,1977688,1675638,1350662
GO: molecular function|aminopeptidase activity|TAS|GO:0004177|GOA|10734069
GO: biological process|angiogenesis|IEA|GO:0001525|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|2564851
GO: molecular function|membrane alanyl aminopeptidase activity|IEA|GO:0004179|GOA|na
GO: molecular function|metallopeptidase activity|TAS|GO:0008237|GOA|2564851
GO: biological process|proteolysis and peptidolysis|IEA|GO:0006508|GOA|na
GO: molecular function|receptor activity|TAS|GO:0004872|GOA|1350662
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>291
LOCUSID: 291
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001151|4502096|na
NP: NP_001142|4502097
CDD: KOG0749: Mitochondrial ADP/ATP carrier proteins [Energy production and conversion]|18543|1134|na|4.408490e+02
PRODUCT: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
ASSEMBLY: J02966
CONTIG: NT_022792.16|37540430|na|18475943|18479947|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_001151|4502096|na
XP: NP_001142|4502097|na
ACCNUM: J04982|178658|na|na|na
TYPE: g
PROT: AAA51736|178659|1
ACCNUM: BC008664|14250453|na|na|na
TYPE: m
PROT: AAH08664|14250454|1
ACCNUM: BC061589|38181965|na|na|na
TYPE: m
PROT: AAH61589|38181966|1
ACCNUM: BC063643|39645761|na|na|na
TYPE: m
PROT: AAH63643|39645762|1
ACCNUM: J02966|339919|na|na|na
TYPE: m
PROT: AAA61223|339920|1
OFFICIAL_SYMBOL: SLC25A4
OFFICIAL_GENE_NAME: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
ALIAS_SYMBOL: T1
ALIAS_SYMBOL: ANT
ALIAS_SYMBOL: ANT1
ALIAS_SYMBOL: PEO2
ALIAS_SYMBOL: PEO3
PREFERRED_PRODUCT: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
CHR: 4
STS: D4S3175|4|16763|D4S3175|seq_map|epcr
STS: G33947|4|48256|na|seq_map|epcr
STS: A006N06|4|58023|na|seq_map|epcr
STS: SHGC-59516|4|63975|na|seq_map|epcr
STS: GDB:201790|-|156059|na|na|epcr
STS: SLC25A4|B1|266054|na|na|epcr
COMP: 36058|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A291[id]+AND+gene[obj_type]&QSTR=slc25a4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adenine nucleotide translocator 1 (skeletal muscle)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2043
UNIGENE: Hs.2043
OMIM: 103220
MAP: 4q35|HUGO|C|
MAPLINK: default_human_gene|SLC25A4
REL2: 155807|NP_057852|Vpr, p15|binds|NP_001142|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4|HIV-1 Vpr (amino acids 71-96) induces mitochondrial membrane permeabilization and apoptosis via a specific binding interaction with the adenine nucleotide translocator (amino acids 104-116)|12750404,12750393,11193032,11181702,10620603
REL2: 155807|NP_057852|Vpr, p15|binds|NP_001142|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4|Interaction of HIV-1 Vpr with human adenine nucleotide translocator (ANT) is presumed based on a specific binding interaction between Vpr and rat ANT|11193032,11181702,11175251,10620603
PHENOTYPE: Progressive external ophthalmoplegia with mitochondrial DNA deletions
PHENOTYPE_ID: 157640
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=291
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=291[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119680
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001151
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001151
PMID: 14729611,12750404,12750393,12565915,12477932,12450408,12140186,11756592,11193032,11181702,11175251,10926541,10620603,10364542,8644740,2823266,2547778,1582253
>>292
LOCUSID: 292
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001152|4502098|na
NP: NP_001143|4502099
CDD: KOG0749: Mitochondrial ADP/ATP carrier proteins [Energy production and conversion]|18543|1239|na|4.812950e+02
PRODUCT: solute carrier family 25, member 5
ASSEMBLY: M57424
CONTIG: NT_077819.3|37546537|na|2870119|2872989|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_001152|4502098|na
XP: NP_001143|4502099|na
ACCNUM: AC004000|2772563|na|na|na
TYPE: g
PROT: AAB96347|2772564|1
ACCNUM: L78810|1381111|na|na|na
TYPE: g
PROT: AAB39266|1381112|1
ACCNUM: M57424|178660|na|na|na
TYPE: g
PROT: AAA51737|178661|1
ACCNUM: BC056160|33525217|na|na|na
TYPE: m
PROT: AAH56160|33525218|1
ACCNUM: BC068199|45829840|na|na|na
TYPE: m
PROT: AAH68199|45829841|1
ACCNUM: J02683|179246|na|na|na
TYPE: m
PROT: AAA35579|179247|1
ACCNUM: J03591|339720|na|na|na
TYPE: m
PROT: AAA36749|339721|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05141|113459|0
OFFICIAL_SYMBOL: SLC25A5
OFFICIAL_GENE_NAME: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5
ALIAS_SYMBOL: T2
ALIAS_SYMBOL: T3
ALIAS_SYMBOL: ANT2
PREFERRED_PRODUCT: solute carrier family 25, member 5
CHR: X
STS: G22154|-|67945|na|na|epcr
STS: RH44917|-|87606|na|na|epcr
ALIAS_PROT: 2F1
ALIAS_PROT: adenine nucleotide translocator 2 (fibroblast)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79172
UNIGENE: Hs.79172
OMIM: 300150
MAP: Xq24-q26|RefSeq|C|
MAPLINK: default_human_gene|SLC25A5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=292
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=292[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125190
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001152
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001152
DB_DESCR: Integrated X Chromosome Database (IXDB)
DB_LINK: http://ixdb.mpimg-berlin-dahlem.mpg.de/bin/ixdbcmd.cgi?cmd=showObj&id=50201
PMID: 12777383,12477932,12450408,8918809,7713517,3031073,2829183,2168878
GO: molecular function|adenine transporter activity|TAS|GO:0015207|GOA|2168878
GO: molecular function|binding|IEA|GO:0005488|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|2168878
GO: cellular component|mitochondrial inner membrane|IEA|GO:0005743|GOA|na
GO: biological process|mitochondrial transport|IEA|GO:0006839|GOA|na
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: biological process|transport|TAS|GO:0006810|GOA|2168878
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
>>293
LOCUSID: 293
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001636|27764862|na
NP: NP_001627|27764863
CDD: KOG0749: Mitochondrial ADP/ATP carrier proteins [Energy production and conversion]|18543|1242|na|4.824510e+02
PRODUCT: solute carrier family 25, member A6
ASSEMBLY: BC014775
CONTIG: NT_033330.6|37546506|na|60764|66713|-|X|reference
EVID: supported by alignment with mRNA
XM: NM_001636|27764862|na
XP: NP_001627|27764863|na
CONTIG: NT_079583.1|37546690|na|60764|66713|-|Y|reference
EVID: supported by alignment with mRNA
XM: NM_001636|27764862|na
XP: NP_001627|27764863|na
ACCNUM: AY007135|9956038|na|na|na
TYPE: m
PROT: AAG01998|9956039|1
ACCNUM: BC007295|13938330|na|na|na
TYPE: m
PROT: AAH07295|13938331|1
ACCNUM: BC007850|33873762|na|na|na
TYPE: m
PROT: AAH07850|14043791|1
ACCNUM: BC008737|33873986|na|na|na
TYPE: m
PROT: AAH08737|14250567|1
ACCNUM: BC008935|33874058|na|na|na
TYPE: m
PROT: AAH08935|14286274|1
ACCNUM: BC013256|15301544|na|na|na
TYPE: m
ACCNUM: BC014775|15928607|na|na|na
TYPE: m
PROT: AAH14775|15928608|1
ACCNUM: BC031912|21594692|na|na|na
TYPE: m
PROT: AAH31912|21594693|1
ACCNUM: BC035469|22028373|na|na|na
TYPE: m
ACCNUM: J03592|339722|na|na|na
TYPE: m
PROT: AAA36750|339723|1
ACCNUM: J03593|339724|na|na|na
TYPE: m
PROT: AAA36751|339725|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P12236|113463|0
OFFICIAL_SYMBOL: SLC25A6
OFFICIAL_GENE_NAME: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6
ALIAS_SYMBOL: ANT3
ALIAS_SYMBOL: ANT3Y
ALIAS_SYMBOL: MGC17525
PREFERRED_PRODUCT: solute carrier family 25, member A6
CHR: X
CHR: Y
STS: RH79891|-|85411|na|na|epcr
STS: RH74927|-|92663|na|na|epcr
ALIAS_PROT: ADP/ATP translocase 3
ALIAS_PROT: ADP/ATP translocator of liver
ALIAS_PROT: adenine nucleotide translocator 3
ALIAS_PROT: ADP,ATP carrier protein, liver isoform T2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2043
UNIGENE: Hs.2043
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=350927
UNIGENE: Hs.350927
OMIM: 300151
OMIM: 403000
MAP: Xp22.32 and Yp|RefSeq|C|
MAPLINK: default_human_query|SLC25A6
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=293
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=293[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125184
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001636
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001636
DB_DESCR: PharmGKB: PA35868
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA35868
DB_DESCR: Integrated X Chromosome Database (IXDB)
DB_LINK: http://ixdb.mpimg-berlin-dahlem.mpg.de/bin/ixdbcmd.cgi?cmd=showObj&id=520901
PMID: 15063741,14746803,12477932,12450408,9110174,8619474,8490661,2829183,2541251
GO: molecular function|ATP:ADP antiporter activity|NAS|GO:0005471|GOA|2541251
GO: molecular function|binding|IEA|GO:0005488|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|mitochondrial inner membrane presequence translocase complex|TAS|GO:0005744|GOA|2541251
GO: biological process|mitochondrial transport|IEA|GO:0006839|GOA|na
GO: cellular component|mitochondrion|IEA|GO:0005739|GOA|na
GO: biological process|transport|IEA|GO:0006810|GOA|na
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
>>294
LOCUSID: 294
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANTP1
OFFICIAL_GENE_NAME: adenine nucleotide translocator pseudogene 1 (clone 29)
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128822
PMID: 2157297
>>295
LOCUSID: 295
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANTP2
OFFICIAL_GENE_NAME: adenine nucleotide translocator pseudogene 2 (clone 7)
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128823
PMID: 2157297
>>296
LOCUSID: 296
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANTP3
OFFICIAL_GENE_NAME: adenine nucleotide translocator pseudogene 3 (clone 13)
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128824
PMID: 2157297
>>297
LOCUSID: 297
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANTP4
OFFICIAL_GENE_NAME: adenine nucleotide translocator pseudogene 4 (clone 9)
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128825
PMID: 2157297
>>298
LOCUSID: 298
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANTP5
OFFICIAL_GENE_NAME: adenine nucleotide translocator pseudogene 5 (clone 19)
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128826
PMID: 2157297
>>299
LOCUSID: 299
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANTP6
OFFICIAL_GENE_NAME: adenine nucleotide translocator pseudogene 6 (clone 3)
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128827
PMID: 2157297
>>300
LOCUSID: 300
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ANTP7
OFFICIAL_GENE_NAME: adenine nucleotide translocator pseudogene 7 (clone 2)
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128828
PMID: 2157297
>>301
LOCUSID: 301
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000700|4502100|na
NP: NP_000691|4502101
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1104|na|4.292250e+02
PRODUCT: annexin I
ASSEMBLY: X05908
CONTIG: NT_023935.16|37539725|na|4931313|4949839|+|9|reference
EVID: supported by alignment with mRNA
XM: NM_000700|4502100|na
XP: NP_000691|4502101|na
ACCNUM: U25414|849128|na|na|na
TYPE: g
ACCNUM: AK074480|18677095|na|na|na
TYPE: m
ACCNUM: BC001275|12654862|na|na|na
TYPE: m
PROT: AAH01275|12654863|1
ACCNUM: BC018683|22450828|na|na|na
TYPE: m
ACCNUM: BC034157|21707657|na|na|na
TYPE: m
ACCNUM: BC035993|23958903|na|na|na
TYPE: m
PROT: AAH35993|23958904|1
ACCNUM: CR407684|47115304|na|na|na
TYPE: m
PROT: CAG28612|47115305|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P04083|113944|0
ACCNUM: X05908|34387|na|na|na
TYPE: r
PROT: CAA29338|34388|1
OFFICIAL_SYMBOL: ANXA1
OFFICIAL_GENE_NAME: annexin A1
ALIAS_SYMBOL: ANX1
ALIAS_SYMBOL: LPC1
PREFERRED_PRODUCT: annexin I
SUMMARY: Summary:  Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity.  Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity.
CHR: 9
STS: SHGC-12349|9|78440|na|seq_map|epcr
COMP: 563|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A301[id]+AND+gene[obj_type]&QSTR=anxa1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: lipocortin I
ALIAS_PROT: annexin I (lipocortin I)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=287558
UNIGENE: Hs.287558
OMIM: 151690
MAP: 9q12-q21.2|HUGO|C|9q12-q21.2|HUGO|C|
MAPLINK: default_human_gene|ANXA1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=301
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=301[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120550
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000700
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000700
PMID: 15168732,14733945,12859969,12679902,12477932,12236584,12165536,11759108,11468004,10882119,2971450,2969496,2967291,2936963
GO: molecular function|calcium ion binding|TAS|GO:0005509|GOA|2967291
GO: molecular function|calcium-dependent phospholipid binding|IEA|GO:0005544|GOA|na
GO: biological process|cell motility|TAS|GO:0006928|GOA|10882119
GO: biological process|cell surface receptor linked signal transduction|TAS|GO:0007166|GOA|10882119
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|10882119
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|2936963
GO: molecular function|phospholipase A2 inhibitor activity|IEA|GO:0019834|GOA|na
GO: molecular function|receptor binding|TAS|GO:0005102|GOA|10882119
>>302
LOCUSID: 302
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001002857|50845385|na
NP: NP_001002857|50845386
CDD: smart00335: Annexin repeats|22765|192|na|7.777680e+01
PRODUCT: annexin A2 isoform 2
TRANSVAR: Transcript Variant: This variant (2) lacks a segment but has an additional exon in the 5' region, as compared to variant 1. It uses a downstream AUG start codon and encodes isoform 2 which has a shorter N-terminus, as compared to isoform 1. Variant 3 and this variant encode the same isoform.
ASSEMBLY: AW087150,BC015834,BC023990
NM: NM_001002858|50845387|na
NP: NP_001002858|50845388
CDD: smart00335: Annexin repeats|22765|194|na|7.854710e+01
PRODUCT: annexin A2 isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform (1).
ASSEMBLY: AW087150,BC015834,BC021114,BX640598
NM: NM_004039|50845389|na
NP: NP_004030|4757756
CDD: smart00335: Annexin repeats|22765|192|na|7.777680e+01
PRODUCT: annexin A2 isoform 2
TRANSVAR: Transcript Variant: This variant (3) lacks a segment in the 5' region, as compared to variant 1. It uses a downstream AUG start codon and encodes isoform 2 which has a shorter N-terminus, as compared to isoform 1. Variant 2 and this variant encode the same isoform.
ASSEMBLY: AW087150,BC015834,D00017
CONTIG: NT_010194.16|37540936|na|31430093|31480736|-|15|reference
EVID: supported by alignment with mRNA
XM: NM_004039|50845389|na
XP: NP_004030|4757756|na
ACCNUM: AK092006|21750500|na|na|na
TYPE: m
ACCNUM: AK124427|34530209|na|na|na
TYPE: m
ACCNUM: AW087150|6042955|na|na|na
TYPE: m
ACCNUM: BC001388|33876145|na|na|na
TYPE: m
PROT: AAH01388|12655075|1
ACCNUM: BC009564|16306977|na|na|na
TYPE: m
PROT: AAH09564|16306978|1
ACCNUM: BC013843|15426612|na|na|na
TYPE: m
ACCNUM: BC015834|16198376|na|na|na
TYPE: m
PROT: AAH15834|16198377|1
ACCNUM: BC016774|16877001|na|na|na
TYPE: m
PROT: AAH16774|16877002|1
ACCNUM: BC021114|18088907|na|na|na
TYPE: m
PROT: AAH21114|18088908|1
ACCNUM: BC023990|18645166|na|na|na
TYPE: m
PROT: AAH23990|18645167|1
ACCNUM: BC052558|30962841|na|na|na
TYPE: m
PROT: AAH52558|30962842|1
ACCNUM: BC052567|30962861|na|na|na
TYPE: m
PROT: AAH52567|30962862|1
ACCNUM: BC066955|44890454|na|na|na
TYPE: m
PROT: AAH66955|44890455|1
ACCNUM: BC068065|45786108|na|na|na
TYPE: m
PROT: AAH68065|45786109|1
ACCNUM: BT007432|30583702|na|na|na
TYPE: m
PROT: AAP36100|30583703|1
ACCNUM: BX640598|34364596|na|na|na
TYPE: m
PROT: CAE45704|34364597|1
ACCNUM: D00017|219909|na|na|na
TYPE: m
PROT: BAA00013|219910|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P07355|113950|0
OFFICIAL_SYMBOL: ANXA2
OFFICIAL_GENE_NAME: annexin A2
ALIAS_SYMBOL: P36
ALIAS_SYMBOL: ANX2
ALIAS_SYMBOL: LIP2
ALIAS_SYMBOL: LPC2
ALIAS_SYMBOL: CAL1H
ALIAS_SYMBOL: LPC2D
ALIAS_SYMBOL: ANX2L4
ALIAS_SYMBOL: PAP-IV
PREFERRED_PRODUCT: annexin A2 isoform 1
PREFERRED_PRODUCT: annexin A2 isoform 2
SUMMARY: Summary: This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.
CHR: 15
STS: D15S1185|15|39361|D15S1185|seq_map|epcr
STS: GDB:626485|9|158398|na|seq_map|epcr
STS: PMC152906P1|-|271244|na|na|epcr
COMP: 20857|15|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=15&MAPS=genes-r-org/rat-chr/human%3A15,genes-r-org/mouse-chr/human%3A15,genes-r-org/human-chr15&query=e%3A302[id]+AND+gene[obj_type]&QSTR=anxa2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: annexin II
ALIAS_PROT: P36 protein
ALIAS_PROT: lipocortin II
ALIAS_PROT: chromobindin 8
ALIAS_PROT: calpactin I heavy polypeptide
ALIAS_PROT: placental anticoagulant protein IV
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=462864
UNIGENE: Hs.462864
OMIM: 151740
MAP: 15q21-q22|HUGO|C|
MAPLINK: default_human_gene|ANXA2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=302
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=302[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120554
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004039
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001002857
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004039
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001002857
DB_DESCR: PharmGKB: PA24827
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24827
PMID: 15070701,14702039,14672933,14522961,14504107,13679511,12730231,12699894,12629510,12477932,12468550,11781322,10809787,8636985,7961821,7851890,3013422,2969496,2174397
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|IEA|GO:0005544|GOA|na
GO: molecular function|cytoskeletal protein binding|IEA|GO:0008092|GOA|na
GO: molecular function|phospholipase inhibitor activity|TAS|GO:0004859|GOA|3013422
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|10809787
GO: biological process|skeletal development|TAS|GO:0001501|GOA|7961821
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|7961821
>>303
LOCUSID: 303
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene, transcribed
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NR: NR_001562|34304006|na
ASSEMBLY: M62896
CONTIG: NT_016606.16|37540362|na|15776677|15778019|-|4|reference
EVID: supported by alignment with mRNA
XM: NR_001562|34304006|na
ACCNUM: M62896|187146|na|1|1342
TYPE: m
OFFICIAL_SYMBOL: ANXA2P1
OFFICIAL_GENE_NAME: annexin A2 pseudogene 1
ALIAS_SYMBOL: LPC2A
ALIAS_SYMBOL: ANX2L1
ALIAS_SYMBOL: ANX2P1
CHR: 4
ALIAS_PROT: annexin II (lipocortin II) pseudogene 1
MAP: 4q21-q31|HUGO|C|
MAPLINK: default_human_gene|ANXA2P1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=303
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120551
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=M62896
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M62896
PMID: 2174397,1611909
>>304
LOCUSID: 304
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene, transcribed
ORGANISM: Homo sapiens
STATUS: MODEL
ACCNUM: M62898|187147|na|na|na
TYPE: m
OFFICIAL_SYMBOL: ANXA2P2
OFFICIAL_GENE_NAME: annexin A2 pseudogene 2
ALIAS_SYMBOL: LPC2B
ALIAS_SYMBOL: ANX2L2
ALIAS_SYMBOL: ANX2P2
CHR: 9
STS: GDB:626485|-|158398|na|na|epcr
STS: PMC152906P1|-|271244|na|na|epcr
ALIAS_PROT: annexin II (lipocortin II) pseudogene 2
MAP: 9p13|HUGO|C|
MAPLINK: default_human_gene|ANXA2P2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=304
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120552
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=M62898
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M62898
PMID: 2969496,2174397
>>305
LOCUSID: 305
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene, transcribed
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NR: NR_001446|32171242|na
ASSEMBLY: M62895
CONTIG: NT_008583.16|37551286|na|15136435|15137789|+|10|reference
EVID: supported by alignment with mRNA
XM: NR_001446|32171242|na
ACCNUM: M62895|187145|na|1|1361
TYPE: m
OFFICIAL_SYMBOL: ANXA2P3
OFFICIAL_GENE_NAME: annexin A2 pseudogene 3
ALIAS_SYMBOL: LIP2
ALIAS_SYMBOL: LPC2C
ALIAS_SYMBOL: ANX2L3
ALIAS_SYMBOL: ANX2P3
CHR: 10
ALIAS_PROT: annexin II (lipocortin II) pseudogene 3
MAP: 10q21-q22|HUGO|C|
MAPLINK: default_human_gene|ANXA2P3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=305
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120553
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=M62895
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M62895
PMID: 2174397
>>306
LOCUSID: 306
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005139|4826642|na
NP: NP_005130|4826643
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1155|na|4.488700e+02
PRODUCT: annexin A3
ASSEMBLY: M20560
CONTIG: NT_016354.16|37539910|na|3961661|4026287|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_005139|4826642|na
XP: NP_005130|4826643|na
ACCNUM: L20591|410200|na|na|na
TYPE: g
PROT: AAA16713|410202|1
ACCNUM: BC000871|12654114|na|na|na
TYPE: m
PROT: AAH00871|12654115|1
ACCNUM: CR407648|47115232|na|na|na
TYPE: m
PROT: CAG28576|47115233|1
ACCNUM: M20560|186967|na|na|na
TYPE: m
PROT: AAA59496|307115|1
ACCNUM: M63310|178696|na|na|na
TYPE: m
PROT: AAA52284|178697|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P12429|113954|0
OFFICIAL_SYMBOL: ANXA3
OFFICIAL_GENE_NAME: annexin A3
ALIAS_SYMBOL: ANX3
PREFERRED_PRODUCT: annexin A3
SUMMARY: Summary: This gene encodes a member of the annexin family.  Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways.  This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation.
CHR: 4
STS: SHGC-16556|-|18406|na|na|epcr
STS: G34409|-|58913|na|na|epcr
STS: D4S3345|4|60963|D4S3345|seq_map|epcr
STS: SHGC4-147|4|88460|na|seq_map|epcr
STS: SHGC-67306|4|92883|na|seq_map|epcr
COMP: 2977|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A306[id]+AND+gene[obj_type]&QSTR=anxa3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: calcimedin 35-alpha
ALIAS_PROT: Annexin III (lipocortin III)
ALIAS_PROT: annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442733
UNIGENE: Hs.442733
OMIM: 106490
ECNUM: 3.1.4.36
MAP: 4q13-q22|HUGO|C|
MAPLINK: default_human_gene|ANXA3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=306
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=306[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125900
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005139
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005139
PMID: 12477932,8639653,8626524,8276419,2975506,2968983,2159184,1830024
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|NR|GO:0005544|GOA|na
GO: cellular component|cytoplasm|NR|GO:0005737|GOA|na
GO: molecular function|diphosphoinositol-polyphosphate diphosphatase activity|NR|GO:0008486|GOA|na
GO: molecular function|phospholipase A2 inhibitor activity|IEA|GO:0019834|GOA|na
>>307
LOCUSID: 307
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001153|4809272|na
NP: NP_001144|4502105
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1224|na|4.754490e+02
PRODUCT: annexin IV
ASSEMBLY: D78152,M82809
CONTIG: NT_022184.13|37547123|na|48785213|48869523|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_001153|4809272|na
XP: NP_001144|4502105|na
ACCNUM: AK058017|16554017|na|na|na
TYPE: m
ACCNUM: BC000182|12652858|na|na|na
TYPE: m
PROT: AAH00182|12652859|1
ACCNUM: BC011659|15079686|na|na|na
TYPE: m
PROT: AAH11659|15079687|1
ACCNUM: CR407681|47115298|na|na|na
TYPE: m
PROT: CAG28609|47115299|1
ACCNUM: D78152|1060889|na|na|na
TYPE: m
PROT: BAA11227|1060890|1
ACCNUM: M19383|189616|na|na|na
TYPE: m
PROT: AAC41689|189617|1
ACCNUM: M82809|178698|na|na|na
TYPE: m
PROT: AAA51740|178699|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P09525|1703319|0
OFFICIAL_SYMBOL: ANXA4
OFFICIAL_GENE_NAME: annexin A4
ALIAS_SYMBOL: ANX4
PREFERRED_PRODUCT: annexin IV
SUMMARY: Summary: Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways.  ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization.  Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity.  ANX4 is almost exclusively expressed in epithelial cells.
CHR: 2
STS: RH1484|2|27743|na|seq_map|epcr
STS: D2S2862|2|43168|D2S2862|seq_map|epcr
STS: D2S2560|2|60046|D2S2560|seq_map|epcr
STS: RH65876|-|70428|na|na|epcr
STS: SHGC-83751|-|104345|na|na|epcr
COMP: 20311|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A307[id]+AND+gene[obj_type]&QSTR=anxa4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: placental anticoagulant protein II
ALIAS_PROT: annexin IV (placental anticoagulant protein II)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422986
UNIGENE: Hs.422986
OMIM: 106491
MAP: 2p13|HUGO|C|
MAPLINK: default_human_gene|ANXA4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=307
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=307[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:131395
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001153
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001153
PMID: 12477932,8882729,8631806,2970257,2530088,2148260,2143074,1346776
GO: molecular function|calcium ion binding|NAS|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|NAS|GO:0005544|GOA|2970257
GO: molecular function|phospholipase inhibitor activity|NAS|GO:0004859|GOA|2970257
>>308
LOCUSID: 308
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001154|4809273|na
NP: NP_001145|4502107
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1150|na|4.469440e+02
PRODUCT: annexin 5
ASSEMBLY: AH004914,J03745
CONTIG: NT_016354.16|37539910|na|47084279|47113307|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_001154|4809273|na
XP: NP_001145|4502107|na
ACCNUM: U01681|430954|na|na|na
TYPE: g
PROT: AAB40047|430966|1
ACCNUM: U01691|430964|na|na|na
TYPE: g
PROT: AAB40047|430966|1
ACCNUM: U05770|468886|na|na|na
TYPE: g
PROT: AAB60648|468888|1
ACCNUM: BC001429|33876205|na|na|na
TYPE: m
PROT: AAH01429|12655149|1
ACCNUM: BC004993|13436442|na|na|na
TYPE: m
PROT: AAH04993|13436443|1
ACCNUM: BC012804|33869781|na|na|na
TYPE: m
PROT: AAH12804|15215412|1
ACCNUM: BC012822|33870242|na|na|na
TYPE: m
PROT: AAH12822|15215459|1
ACCNUM: BC018671|17391476|na|na|na
TYPE: m
PROT: AAH18671|17391477|1
ACCNUM: BC032093|21327830|na|na|na
TYPE: m
ACCNUM: D00172|219480|na|na|na
TYPE: m
PROT: BAA00122|219481|1
ACCNUM: J03745|182111|na|na|na
TYPE: m
PROT: AAA52386|182112|1
ACCNUM: M18366|179131|na|na|na
TYPE: m
PROT: AAA35570|179132|1
ACCNUM: M19384|189614|na|na|na
TYPE: m
PROT: AAB59545|189615|1
ACCNUM: M21731|186969|na|na|na
TYPE: m
PROT: AAA36166|307116|1
ACCNUM: X12454|37636|na|na|na
TYPE: m
PROT: CAA30985|37637|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P08758|113960|0
OFFICIAL_SYMBOL: ANXA5
OFFICIAL_GENE_NAME: annexin A5
ALIAS_SYMBOL: PP4
ALIAS_SYMBOL: ANX5
ALIAS_SYMBOL: ENX2
PREFERRED_PRODUCT: annexin 5
SUMMARY: Summary: The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.
CHR: 4
STS: D4S3274|4|9794|D4S3274|seq_map|epcr
STS: WI-18730|4|60538|na|seq_map|epcr
STS: SHGC-67991|4|72449|na|seq_map|epcr
STS: SHGC4-1011|4|84471|na|na|epcr
STS: G62114|4|139157|na|seq_map|epcr
COMP: 20312|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A308[id]+AND+gene[obj_type]&QSTR=anxa5&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: anchorin CII
ALIAS_PROT: endonexin II
ALIAS_PROT: lipocortin V
ALIAS_PROT: placental anticoagulant protein I
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=145741
UNIGENE: Hs.145741
OMIM: 131230
MAP: 4q26-q28|HUGO|C|4q28-q32|RefSeq|C|
MAPLINK: default_human_gene|ANXA5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=308
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=308[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120555
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001154
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001154
DB_DESCR: PharmGKB: PA24833
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24833
PMID: 14764526,12871462,12798778,12732504,12477932,12200370,12102261,11773704,8034319,7958998,7519374,2968983,2967495,2967291,2964863,2963810,2960376,2455636,1683830
GO: biological process|blood coagulation|IEA|GO:0007596|GOA|na
GO: molecular function|calcium ion binding|NR|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|IEA|GO:0005544|GOA|na
GO: biological process|negative regulation of coagulation|IEA|GO:0050819|GOA|na
GO: molecular function|phospholipase inhibitor activity|TAS|GO:0004859|GOA|2967495
>>309
LOCUSID: 309
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001155|4809274|na
NP: NP_001146|4502109
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1169|na|4.542630e+02
PRODUCT: annexin VI isoform 1
TRANSVAR: Transcript Variant: ANX6a transcript includes all 26 exons.
ASSEMBLY: J03578,X77673
NM: NM_004033|4809275|na
NP: NP_004024|4809276
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1169|na|4.542630e+02
PRODUCT: annexin VI isoform 2
TRANSVAR: Transcript Variant: This transcript variant misses exon 21, and encodes a protein isoform lacking the 6-amino acids, VAAEIL, at the start of the seventh repeat of the eight protein repeat motifs.
ASSEMBLY: J03578
CONTIG: NT_029289.10|37550092|na|11643606|11700328|-|5|reference
EVID: supported by alignment with mRNA
XM: NM_001155|4809274|na
XP: NP_001146|4502109|na
EVID: supported by alignment with mRNA
XM: NM_004033|4809275|na
XP: NP_004024|4809276|na
ACCNUM: X77673|474823|na|na|na
TYPE: g
ACCNUM: BC017046|16877588|na|na|na
TYPE: m
PROT: AAH17046|16877589|1
ACCNUM: D00510|219550|na|na|na
TYPE: m
PROT: BAA00400|219551|1
ACCNUM: J03578|179975|na|na|na
TYPE: m
PROT: AAA35656|179976|1
ACCNUM: Y00097|35217|na|na|na
TYPE: m
PROT: CAA68286|35218|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P08133|113962|0
OFFICIAL_SYMBOL: ANXA6
OFFICIAL_GENE_NAME: annexin A6
ALIAS_SYMBOL: ANX6
ALIAS_SYMBOL: CBP68
PREFERRED_PRODUCT: annexin VI isoform 1
PREFERRED_PRODUCT: annexin VI isoform 2
SUMMARY: Summary: Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons.  It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats.  Exon 21 of annexin VI is alternatively spliced, giving rise to two isoforms that differ by a 6-amino acid insertion at the start of the seventh repeat.  Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis.
CHR: 5
STS: SGC34325|-|11221|na|na|epcr
STS: STS-AA031316|5|37918|na|seq_map|epcr
STS: RH44551|-|43977|na|na|epcr
STS: RH47466|5|44752|na|seq_map|epcr
STS: GDB:392715|5|157189|na|seq_map|epcr
COMP: 20313|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A309[id]+AND+gene[obj_type]&QSTR=anxa6&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: calelectrin
ALIAS_PROT: calphobindin II
ALIAS_PROT: annexin VI (p68)
ALIAS_PROT: calcium-binding protein p68
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=412117
UNIGENE: Hs.412117
OMIM: 114070
MAP: 5q32-q34|HUGO|C|
MAPLINK: default_human_gene|ANXA6
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=309
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=309[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119681
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001155
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001155
PMID: 12885247,12534274,12477932,12140262,8146179,7698768,3258820,2963335,2528541
GO: molecular function|calcium ion binding|NR|GO:0005509|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|IEA|GO:0005544|GOA|na
>>310
LOCUSID: 310
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001156|4809277|na
NP: NP_001147|4502111
CDD: smart00335: Annexin repeats|22765|201|na|8.124350e+01
CDD: smart00335: Annexin repeats|22765|201|na|8.124350e+01
PRODUCT: annexin VII isoform 1
TRANSVAR: Transcript Variant: This is the 2.0 kb splice variant which does not contain the 66 bp cassette exon. The resulting protein isoform lacks the 22 amino acid insert and is smaller by 2 kDa.
ASSEMBLY: J04543,M64272
NM: NM_004034|4809278|na
NP: NP_004025|4809279
CDD: smart00335: Annexin repeats|22765|200|na|8.085830e+01
CDD: smart00335: Annexin repeats|22765|200|na|8.085830e+01
PRODUCT: annexin VII isoform 2
TRANSVAR: Transcript Variant: Splice variant 2 is the larger 2.4 kb transcript containing the alternatively spliced 66 bp cassette exon. The protein isoform, which contains a unique 22 amino acid insert in the N-terminus, is larger by approximately 2 kDa. It is predominantly expressed in brain, heart and skeletal muscle.
ASSEMBLY: J04543,M64272
CONTIG: NT_008583.16|37551286|na|23686359|23724980|-|10|reference
EVID: supported by alignment with mRNA
XM: NM_001156|4809277|na
XP: NP_001147|4502111|na
EVID: supported by alignment with mRNA
XM: NM_004034|4809278|na
XP: NP_004025|4809279|na
ACCNUM: AB062429|21104443|na|na|na
TYPE: m
PROT: BAB93492|21104444|1
ACCNUM: BC001322|12654948|na|na|na
TYPE: m
ACCNUM: BC002632|38114822|na|na|na
TYPE: m
PROT: AAH02632|12803595|1
ACCNUM: BT007187|30583212|na|na|na
TYPE: m
PROT: AAP35851|30583213|1
ACCNUM: CR407686|47115308|na|na|na
TYPE: m
PROT: CAG28614|47115309|1
ACCNUM: J04543|338243|na|na|na
TYPE: m
PROT: AAA36616|338244|1
ACCNUM: M64272|338245|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P20073|113966|0
OFFICIAL_SYMBOL: ANXA7
OFFICIAL_GENE_NAME: annexin A7
ALIAS_SYMBOL: SNX
ALIAS_SYMBOL: ANX7
PREFERRED_PRODUCT: annexin VII isoform 1
PREFERRED_PRODUCT: annexin VII isoform 2
SUMMARY: Summary:  Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins. The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA.  An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain.  The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle.  The  transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals.  The selection of poly(A) signals is independent of the mRNA splicing pattern. ~Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion.
CHR: 10
STS: RH17592|10|24781|na|seq_map|epcr
STS: SHGC-12519|10|63538|na|seq_map|epcr
STS: GDB:369091|-|156820|na|na|epcr
STS: GDB:369094|-|156821|na|na|epcr
STS: GDB:369097|-|156822|na|na|epcr
COMP: 36149|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A310[id]+AND+gene[obj_type]&QSTR=anxa7&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: synexin
ALIAS_PROT: annexin VII
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=386741
UNIGENE: Hs.386741
OMIM: 186360
MAP: 10q21.1-q21.2|HUGO|C|
MAPLINK: default_human_gene|ANXA7
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=310
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=310[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:369042
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004034
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004034
PMID: 12477932,12445460,11994295,11839755,8053909,7515686,2542947,1825209
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|IEA|GO:0005544|GOA|na
GO: biological process|negative regulation of coagulation|IEA|GO:0050819|GOA|na
GO: molecular function|voltage-gated calcium channel activity|NR|GO:0005245|GOA|na
>>311
LOCUSID: 311
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001157|22165429|na
NP: NP_001148|4557317
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1250|na|4.854640e+02
PRODUCT: annexin A11
TRANSVAR: Transcript Variant: This variant (a) represents the shortest transcript. Variants a, b, and c encode the same isoform.
ASSEMBLY: AJ278463
NM: NM_145868|22165430|na
NP: NP_665875|22165431
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1250|na|4.854640e+02
PRODUCT: annexin A11
TRANSVAR: Transcript Variant: This variant (b) differs in the 5' UTR compared to variant a. Variants a, b, and c encode the same isoform.
ASSEMBLY: AJ278464
NM: NM_145869|22165432|na
NP: NP_665876|22165433
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1250|na|4.854640e+02
PRODUCT: annexin A11
TRANSVAR: Transcript Variant: This variant (c) differs in the 5' UTR compared to variant a. Variants a, b, and c encode the same isoform.
ASSEMBLY: AJ278465
CONTIG: NT_030059.11|37550928|na|663396|713844|-|10|reference
EVID: supported by alignment with mRNA
XM: NM_001157|22165429|na
XP: NP_001148|4557317|na
EVID: supported by alignment with mRNA
XM: NM_145868|22165430|na
XP: NP_665875|22165431|na
EVID: supported by alignment with mRNA
XM: NM_145869|22165432|na
XP: NP_665876|22165433|na
ACCNUM: AJ278463|8671170|na|na|na
TYPE: m
PROT: CAB94995|8671171|1
ACCNUM: AJ278464|8671172|na|na|na
TYPE: m
PROT: CAB94996|8671173|1
ACCNUM: AJ278465|8671174|na|na|na
TYPE: m
PROT: CAB94997|8671175|1
ACCNUM: AK000567|7020750|na|na|na
TYPE: m
ACCNUM: AK056107|16551420|na|na|na
TYPE: m
ACCNUM: AK126287|34532734|na|na|na
TYPE: m
ACCNUM: AL357617|8346950|na|na|na
TYPE: m
ACCNUM: BC007564|34189463|na|na|na
TYPE: m
PROT: AAH07564|14043153|1
ACCNUM: CR450323|47496592|na|na|na
TYPE: m
PROT: CAG29319|47496593|1
ACCNUM: L19605|457128|na|na|na
TYPE: m
PROT: AAA19734|457129|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P50995|1703322|0
OFFICIAL_SYMBOL: ANXA11
OFFICIAL_GENE_NAME: annexin A11
ALIAS_SYMBOL: ANX11
ALIAS_SYMBOL: CAP50
PREFERRED_PRODUCT: annexin A11
SUMMARY: Summary: This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Transcript variants encoding the same isoform have been identified.
CHR: 10
STS: D10S2353|10|32504|D10S2353|seq_map|epcr
STS: STS-N35254|10|37913|na|seq_map|epcr
COMP: 22759|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A311[id]+AND+gene[obj_type]&QSTR=anxa11&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: annexin XI
ALIAS_PROT: autoantigen, 56-kD
ALIAS_PROT: calcyclin-associated annexin 50
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75510
UNIGENE: Hs.75510
OMIM: 602572
MAP: 10q23|RefSeq|C|
MAPLINK: default_human_gene|ANXA11
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=311
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=311[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:313076
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_145869
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_145869
PMID: 14702039,12805373,12601007,12577318,12477932,12445460,11883939,11013079,9503022,7508441
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|IEA|GO:0005544|GOA|na
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|7508441
GO: biological process|immune response|TAS|GO:0006955|GOA|7508441
GO: cellular component|nuclear membrane|NAS|GO:0005635|GOA|12577318
GO: cellular component|nucleoplasm|NAS|GO:0005654|GOA|12577318
GO: molecular function|protein binding|IPI|GO:0005515|GOA|12577318
>>312
LOCUSID: 312
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004306|4757753|na
NP: NP_004297|4757754
CDD: KOG0819: Annexin [Intracellular trafficking, secretion, and vesicular transport]|18612|1016|na|3.953270e+02
PRODUCT: annexin A13
ASSEMBLY: Z11502
CONTIG: NT_008046.14|37555983|na|37911213|37967825|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_004306|4757753|na
XP: NP_004297|4757754|na
ACCNUM: AJ306450|13397834|na|na|na
TYPE: m
PROT: CAC34622|13397835|1
ACCNUM: Z11502|33979|na|na|na
TYPE: m
PROT: CAA77578|33980|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P27216|113973|0
OFFICIAL_SYMBOL: ANXA13
OFFICIAL_GENE_NAME: annexin A13
ALIAS_SYMBOL: ISA
ALIAS_SYMBOL: ANX13
PREFERRED_PRODUCT: annexin A13
SUMMARY: Summary: This gene encodes a member of the annexin family.  Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways.  The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes.
CHR: 8
STS: D8S1979|8|34556|D8S1979|seq_map|epcr
COMP: 20908|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A312[id]+AND+gene[obj_type]&QSTR=anxa13&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: annexin XIII
ALIAS_PROT: annexin, intestine-specific
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181107
UNIGENE: Hs.181107
OMIM: 602573
MAP: 8q24.1-q24.2|RefSeq|C|
MAPLINK: default_human_gene|ANXA13
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=312
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=312[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9836021
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004306
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004306
PMID: 11961095,9503022,1530946
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|calcium-dependent phospholipid binding|NAS|GO:0005544|GOA|na
GO: biological process|cell differentiation|NAS|GO:0030154|GOA|1530946
GO: biological process|negative regulation of coagulation|IEA|GO:0050819|GOA|na
GO: cellular component|plasma membrane|NAS|GO:0005886|GOA|1530946
>>313
LOCUSID: 313
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001637|4502114|na
NP: NP_001628|4502115
CDD: smart00741: Saposin (B) Domains|22650|147|na|6.098000e+01
CDD: pfam00657: GDSL-like Lipase/Acylhydrolase|23057|143|na|5.955240e+01
PRODUCT: acyloxyacyl hydrolase precursor
ASSEMBLY: M62840
CONTIG: NT_007819.14|37538470|na|35845092|36056508|-|7|reference
EVID: supported by alignment with mRNA
XM: NM_001637|4502114|na
XP: NP_001628|4502115|na
CONTIG: NT_079592.1|37538986|na|35937015|36148451|-|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001637|4502114|na
XP: NP_001628|4502115|na
ACCNUM: BC025698|19343612|na|na|na
TYPE: m
PROT: AAH25698|19343613|1
ACCNUM: M62840|178068|na|na|na
TYPE: m
PROT: AAA35506|178069|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P28039|113976|0
OFFICIAL_SYMBOL: AOAH
OFFICIAL_GENE_NAME: acyloxyacyl hydrolase (neutrophil)
PREFERRED_PRODUCT: acyloxyacyl hydrolase precursor
SUMMARY: Summary:  Acyloxyacyl hydrolase (AOAH) is a 2-subunit lipase which selectively hydrolyzes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial endotoxins.  AOAH may modulate host inflammatory responses to gram-negative bacterial invasion. The 2 subunits are encoded by a single mRNA.
CHR: 7
STS: AOAH|-|1101|AOAH|na|epcr
STS: RH17719|7|43881|na|seq_map|epcr
STS: WI-9088|7|52975|na|seq_map|epcr
STS: SHGC-33300|7|63124|na|seq_map|epcr
COMP: 1238|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A313[id]+AND+gene[obj_type]&QSTR=aoah&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82542
UNIGENE: Hs.82542
OMIM: 102593
ECNUM: 3.-.-.-
MAP: 7p14-p12|HUGO|C|
MAPLINK: default_human_gene|AOAH
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=313
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=313[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:134007
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001637
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001637
PMID: 12477932,8088847,1883828
GO: molecular function|acyloxyacyl hydrolase activity|IEA|GO:0050528|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|1883828
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|1883828
GO: molecular function|lipoprotein lipase activity|TAS|GO:0004465|GOA|1883828
>>314
LOCUSID: 314
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001158|6806880|na
NP: NP_001149|4502117
CDD: KOG1186: Copper amine oxidase [Secondary metabolites biosynthesis, transport and catabolism]|18975|1742|na|6.750790e+02
PRODUCT: copper containing amine oxidase isoform a
TRANSVAR: Transcript Variant: Isoform a is the longer isoform and includes the entire exon 2
ASSEMBLY: D88213,SEG_AB012942S
NM: NM_009590|6806881|na
NP: NP_033720|6806882
CDD: KOG1186: Copper amine oxidase [Secondary metabolites biosynthesis, transport and catabolism]|18975|1858|na|7.197620e+02
PRODUCT: copper containing amine oxidase isoform b
TRANSVAR: Transcript Variant: Isoform b is the shorter isoform and is missing the 3' end of exon 2
ASSEMBLY: SEG_AB012942S
CONTIG: NT_010755.14|37543812|na|4719107|4725219|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_001158|6806880|na
XP: NP_001149|4502117|na
EVID: supported by alignment with mRNA
XM: NM_009590|6806881|na
XP: NP_033720|6806882|na
ACCNUM: AB012942|3510332|na|na|na
TYPE: g
PROT: BAA32589|3510334|1
PROT: BAA32590|3510335|1
ACCNUM: AB012943|3510333|na|na|na
TYPE: g
PROT: BAA32589|3510334|1
PROT: BAA32590|3510335|1
ACCNUM: AF081363|5081318|na|na|na
TYPE: m
PROT: AAD39345|5081319|1
ACCNUM: D88213|1906805|na|na|na
TYPE: m
PROT: BAA19001|1906806|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O75106|5915665|0
OFFICIAL_SYMBOL: AOC2
OFFICIAL_GENE_NAME: amine oxidase, copper containing 2 (retina-specific)
ALIAS_SYMBOL: RAO
ALIAS_SYMBOL: DAO2
PREFERRED_PRODUCT: copper containing amine oxidase isoform a
PREFERRED_PRODUCT: copper containing amine oxidase isoform b
SUMMARY: Summary: Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases.
CHR: 17
STS: RH68315|17|9743|na|seq_map|epcr
STS: RH47258|-|72254|na|na|epcr
COMP: 7611|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A314[id]+AND+gene[obj_type]&QSTR=aoc2&cmd=focus&fill=10|Mouse
ALIAS_PROT: Amine oxidase, copper-containing, 2
ALIAS_PROT: copper containing 2 (retina-specific)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=143102
UNIGENE: Hs.143102
OMIM: 602268
ECNUM: 1.4.3.6
MAP: 17q21|RefSeq|C|
MAPLINK: default_human_gene|AOC2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=314
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=314[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:4562632
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_009590
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_009590
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+314
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+314
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+314
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+314
DB_DESCR: KEGG pathway: Alkaloid biosynthesis II
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00960+314
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+314
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+314
DB_DESCR: KEGG pathway: Glycine, serine and threonine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00260+314
PMID: 9722954,9119395
GO: biological process|catecholamine metabolism|IEA|GO:0006584|GOA|na
GO: molecular function|copper ion binding|IEA|GO:0005507|GOA|na
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|9119395
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: biological process|visual perception|TAS|GO:0007601|GOA|9119395
>>315
LOCUSID: 315
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AOM
OFFICIAL_GENE_NAME: arthroophthalmopathy, progressive (Stickler syndrome)
CHR: 12
OMIM: 108300
MAP: 12q14|RefSeq|C|
MAPLINK: default_human_cyto|AOM
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118998
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=108300
>>316
LOCUSID: 316
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001159|6598319|na
NP: NP_001150|6598320
CDD: KOG0430: Xanthine dehydrogenase [Nucleotide transport and metabolism]|18226|4143|na|1.599940e+03
CDD: COG4631: Xanthine dehydrogenase, molybdopterin-binding subunit B [Nucleotide transport and metabolism]|13775|1688|na|6.543190e+02
CDD: COG4630: Xanthine dehydrogenase, iron-sulfur cluster and FAD-binding subunit A [Nucleotide transport and metabolism]|13774|567|na|2.224920e+02
PRODUCT: aldehyde oxidase 1
ASSEMBLY: AH005616
CONTIG: NT_005403.14|37551287|na|51659954|51745630|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_001159|6598319|na
XP: NP_001150|6598320|na
ACCNUM: AF010260|2317693|na|na|na
TYPE: g
PROT: AAB83968|2317694|1
ACCNUM: AF017060|2343153|na|na|na
TYPE: g
PROT: AAB83966|2343155|1
ACCNUM: AB046692|13516378|na|na|na
TYPE: m
PROT: BAB40305|13516379|1
ACCNUM: L11005|438655|na|na|na
TYPE: m
PROT: AAA96650|438656|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q06278|549451|0
OFFICIAL_SYMBOL: AOX1
OFFICIAL_GENE_NAME: aldehyde oxidase 1
ALIAS_SYMBOL: AO
ALIAS_SYMBOL: AOH1
PREFERRED_PRODUCT: aldehyde oxidase 1
SUMMARY: Summary: Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis.
CHR: 2
STS: RH11649|2|11321|na|seq_map|epcr
STS: WI-9291|2|53711|na|seq_map|epcr
COMP: 20314|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A316[id]+AND+gene[obj_type]&QSTR=aox1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406238
UNIGENE: Hs.406238
OMIM: 602841
ECNUM: 1.2.3.1
MAP: 2q33|RefSeq|C|
MAPLINK: default_human_gene|AOX1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=316
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=316[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5779120
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001159
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001159
DB_DESCR: KEGG pathway: Tyrosine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00350+316
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+316
DB_DESCR: KEGG pathway: Vitamin B6 metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00750+316
DB_DESCR: KEGG pathway: Nicotinate and nicotinamide metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00760+316
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+316
PMID: 11302742,8248161,7570184
GO: molecular function|aldehyde oxidase activity|TAS|GO:0004031|GOA|7570184
GO: biological process|electron transport|IEA|GO:0006118|GOA|na
GO: molecular function|electron transporter activity|IEA|GO:0005489|GOA|na
GO: biological process|inflammatory response|TAS|GO:0006954|GOA|8248161
GO: molecular function|molybdenum ion binding|IEA|GO:0030151|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: biological process|oxygen and reactive oxygen species metabolism|TAS|GO:0006800|GOA|7570184
GO: molecular function|xanthine dehydrogenase activity|TAS|GO:0004854|GOA|8248161
>>317
LOCUSID: 317
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001160|32483364|na
NP: NP_001151|4502123
CDD: pfam00931: NB-ARC domain|16854|646|na|2.528750e+02
CDD: pfam00619: Caspase recruitment domain|7694|205|na|8.297000e+01
CDD: KOG4658: Apoptotic ATPase [Signal transduction mechanisms]|22432|1046|na|4.070480e+02
CDD: KOG0276: Vesicle coat complex COPI, beta' subunit [Intracellular trafficking, secretion, and vesicular transport]|18072|158|na|6.496000e+01
CDD: KOG0277: Peroxisomal targeting signal type 2 receptor [Intracellular trafficking, secretion, and vesicular transport]|18073|135|na|5.609930e+01
CDD: cd00200: WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly|5398|546|na|2.144680e+02
PRODUCT: apoptotic protease activating factor isoform b
TRANSVAR: Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the coding region but maintains the reading frame, compared to variant 3. Variant 2 encodes isoform b, which is shorter than isoform c.
ASSEMBLY: AF013263
NM: NM_013229|32483365|na
NP: NP_037361|7108333
CDD: pfam00931: NB-ARC domain|16854|648|na|2.536460e+02
CDD: pfam00619: Caspase recruitment domain|7694|206|na|8.335520e+01
CDD: KOG4658: Apoptotic ATPase [Signal transduction mechanisms]|22432|1049|na|4.082040e+02
CDD: KOG0645: WD40 repeat protein [General function prediction only]|18439|98|na|4.192100e+01
CDD: KOG0318: WD40 repeat stress protein/actin interacting protein [Cytoskeleton]|18114|244|na|9.807390e+01
CDD: cd00200: WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly|5398|585|na|2.294910e+02
PRODUCT: apoptotic protease activating factor isoform a
TRANSVAR: Transcript Variant: This variant (1) uses an alternate splice site in the coding region but maintains the reading frame, compared to variant 3. Variant 1 encodes isoform a, which is shorter than isoform c.
ASSEMBLY: AF013263,AF134397
NM: NM_181861|32483358|na
NP: NP_863651|32483359
CDD: pfam00931: NB-ARC domain|16854|652|na|2.551860e+02
CDD: pfam00619: Caspase recruitment domain|7694|205|na|8.297000e+01
CDD: KOG4658: Apoptotic ATPase [Signal transduction mechanisms]|22432|1023|na|3.981890e+02
CDD: KOG0645: WD40 repeat protein [General function prediction only]|18439|98|na|4.192100e+01
CDD: KOG0318: WD40 repeat stress protein/actin interacting protein [Cytoskeleton]|18114|245|na|9.845910e+01
CDD: cd00200: WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly|5398|586|na|2.298760e+02
PRODUCT: apoptotic protease activating factor isoform c
TRANSVAR: Transcript Variant: This variant (3), also known as Apaf-1L, encodes the longest isoform (c) of this protein.
ASSEMBLY: AF013263,AF149794
NM: NM_181868|32483360|na
NP: NP_863658|32483361
CDD: pfam00931: NB-ARC domain|16854|650|na|2.544160e+02
CDD: pfam00619: Caspase recruitment domain|7694|205|na|8.297000e+01
CDD: KOG4658: Apoptotic ATPase [Signal transduction mechanisms]|22432|1020|na|3.970330e+02
CDD: KOG0276: Vesicle coat complex COPI, beta' subunit [Intracellular trafficking, secretion, and vesicular transport]|18072|158|na|6.496000e+01
CDD: KOG0277: Peroxisomal targeting signal type 2 receptor [Intracellular trafficking, secretion, and vesicular transport]|18073|136|na|5.648450e+01
CDD: cd00200: WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly|5398|547|na|2.148530e+02
PRODUCT: apoptotic protease activating factor isoform d
TRANSVAR: Transcript Variant: This variant (4), also known as Apaf-1M, lacks an in-frame exon in the coding region, compared to variant 3. Variant 4 encodes isoform d, which is shorter than isoform c.
ASSEMBLY: AF013263,AJ243003
NM: NM_181869|32483362|na
NP: NP_863659|32483363
CDD: pfam00931: NB-ARC domain|16854|448|na|1.766060e+02
CDD: pfam00619: Caspase recruitment domain|7694|198|na|8.027360e+01
PRODUCT: apoptotic protease activating factor isoform e
TRANSVAR: Transcript Variant: This variant (5), also known as APAF-1-ALT, lacks several exons in the coding sequence, resulting in a frameshift and an early termination codon compared to variant 3. Variant 5 encodes isoform e, which is shorter and has a distinct C-terminus compared to isoform c.
ASSEMBLY: AB103079,AF013263
CONTIG: NT_019546.15|29802923|na|22521269|22611402|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_001160|32483364|na
XP: NP_001151|4502123|na
EVID: supported by alignment with mRNA
XM: NM_013229|32483365|na
XP: NP_037361|7108333|na
EVID: supported by alignment with mRNA
XM: NM_181861|32483358|na
XP: NP_863651|32483359|na
EVID: supported by alignment with mRNA
XM: NM_181868|32483360|na
XP: NP_863658|32483361|na
EVID: supported by alignment with mRNA
XM: NM_181869|32483362|na
XP: NP_863659|32483363|na
ACCNUM: AB070829|18149177|na|na|na
TYPE: g
ACCNUM: AJ133643|6687817|na|na|na
TYPE: g
PROT: CAB65085|6687818|1
ACCNUM: AJ133644|6687819|na|na|na
TYPE: g
PROT: CAB65086|6687820|1
ACCNUM: AJ133645|6687821|na|na|na
TYPE: g
PROT: CAB65087|6687822|1
ACCNUM: AB007873|20521040|na|na|na
TYPE: m
PROT: BAA24843|20521041|2
ACCNUM: AB103079|31442289|na|na|na
TYPE: m
PROT: BAC77343|31442290|1
ACCNUM: AF013263|2330014|na|na|na
TYPE: m
PROT: AAC51678|2330015|1
ACCNUM: AF134397|5051669|na|na|na
TYPE: m
PROT: AAD38344|5051670|1
ACCNUM: AF149794|4929486|na|na|na
TYPE: m
PROT: AAD34016|4929487|1
ACCNUM: AF248734|13506924|na|na|na
TYPE: m
PROT: AAK28401|13506925|1
ACCNUM: AJ243003|5869869|na|na|na
TYPE: m
PROT: CAB55579|5869870|1
ACCNUM: AJ243004|5869871|na|na|na
TYPE: m
PROT: CAB55580|5869872|1
ACCNUM: AJ243005|5869873|na|na|na
TYPE: m
PROT: CAB55581|5869874|1
ACCNUM: AJ243006|5869875|na|na|na
TYPE: m
PROT: CAB55582|5869876|1
ACCNUM: AJ243007|5869877|na|na|na
TYPE: m
PROT: CAB55583|5869878|1
ACCNUM: AJ243008|5869879|na|na|na
TYPE: m
PROT: CAB55584|5869880|1
ACCNUM: AJ243009|5869881|na|na|na
TYPE: m
PROT: CAB55585|5869882|1
ACCNUM: AJ243010|5869883|na|na|na
TYPE: m
PROT: CAB55586|5869884|1
ACCNUM: AJ243011|5869885|na|na|na
TYPE: m
PROT: CAB55587|5869886|1
ACCNUM: AJ243048|5869887|na|na|na
TYPE: m
PROT: CAB55588|5869888|1
ACCNUM: AJ243107|5921466|na|na|na
TYPE: m
PROT: CAB56462|5921467|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O14727|20141188|0
OFFICIAL_SYMBOL: APAF1
OFFICIAL_GENE_NAME: apoptotic protease activating factor
ALIAS_SYMBOL: CED4
PREFERRED_PRODUCT: apoptotic protease activating factor isoform a
PREFERRED_PRODUCT: apoptotic protease activating factor isoform b
PREFERRED_PRODUCT: apoptotic protease activating factor isoform c
PREFERRED_PRODUCT: apoptotic protease activating factor isoform d
PREFERRED_PRODUCT: apoptotic protease activating factor isoform e
SUMMARY: Summary: This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms.
CHR: 12
STS: RH69665|12|12332|na|seq_map|epcr
COMP: 7626|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A317[id]+AND+gene[obj_type]&QSTR=apaf1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: apoptotic protease activating factor 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=373575
UNIGENE: Hs.373575
OMIM: 602233
MAP: 12q23|RefSeq|C|
MAPLINK: default_human_gene|APAF1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=317
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=317[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9798394
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_181861
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_181861
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+317
PMID: 15033720,15026369,15009102,14993223,14747474,14566819,12963020,12804598,12637514,12615903,12149244,12021264,11864614,10702682,10441496,10364241,10322433,9753320,9455477,9267021
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|caspase activation via cytochrome c|NAS|GO:0008635|GOA|15009102
GO: molecular function|caspase activator activity|NAS|GO:0008656|GOA|15009102
GO: cellular component|cytosol|TAS|GO:0005829|GOA|9267021
GO: cellular component|intracellular|IEA|GO:0005622|GOA|na
GO: biological process|neurogenesis|TAS|GO:0007399|GOA|9753320
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
GO: biological process|regulation of apoptosis|TAS|GO:0042981|GOA|10441496
>>318
LOCUSID: 318
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001161|22265329|na
NP: NP_001152|4502125
CDD: KOG2839: Diadenosine and diphosphoinositol polyphosphate phosphohydrolase [Signal transduction mechanisms]|20625|446|na|1.759140e+02
PRODUCT: nudix-type motif 2
TRANSVAR: Transcript Variant: This variant (1) is the full-length transcript. Variants 1, 2 and 3 all encode the same protein.
ASSEMBLY: AA398857,BM802700,U30313
NM: NM_147172|22219464|na
NP: NP_671701|22219465
CDD: KOG2839: Diadenosine and diphosphoinositol polyphosphate phosphohydrolase [Signal transduction mechanisms]|20625|446|na|1.759140e+02
PRODUCT: nudix-type motif 2
TRANSVAR: Transcript Variant: This variant (2) uses an alternate splice site on a 5' non-coding exon, compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
ASSEMBLY: AA398857,BG622439,U30313
NM: NM_147173|22219466|na
NP: NP_671702|22219467
CDD: KOG2839: Diadenosine and diphosphoinositol polyphosphate phosphohydrolase [Signal transduction mechanisms]|20625|446|na|1.759140e+02
PRODUCT: nudix-type motif 2
TRANSVAR: Transcript Variant: This variant (3) lacks a 5' non-coding exon, compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
ASSEMBLY: AA398857,U30313
CONTIG: NT_008413.16|37540361|na|34319504|34333696|+|9|reference
EVID: supported by alignment with mRNA
XM: NM_001161|22265329|na
XP: NP_001152|4502125|na
EVID: supported by alignment with mRNA
XM: NM_147172|22219464|na
XP: NP_671701|22219465|na
EVID: supported by alignment with mRNA
XM: NM_147173|22219466|na
XP: NP_671702|22219467|na
ACCNUM: AA398857|2050875|na|na|na
TYPE: m
ACCNUM: BC004926|34189644|na|na|na
TYPE: m
PROT: AAH04926|13436251|1
ACCNUM: BG622439|13673810|na|na|na
TYPE: m
ACCNUM: BM802700|19119523|na|na|na
TYPE: m
ACCNUM: U30313|1050959|na|na|na
TYPE: m
PROT: AAC50277|1050961|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P50583|1703326|0
PROT: S60111|2134830|0
OFFICIAL_SYMBOL: NUDT2
OFFICIAL_GENE_NAME: nudix (nucleoside diphosphate linked moiety X)-type motif 2
ALIAS_SYMBOL: APAH1
ALIAS_SYMBOL: MGC10404
PREFERRED_PRODUCT: nudix-type motif 2
SUMMARY: Summary: This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and three transcript variants, all encoding the same protein, have been identified.
CHR: 9
STS: STS-N45093|9|15524|na|seq_map|epcr
COMP: 896|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A318[id]+AND+gene[obj_type]&QSTR=nudt2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Ap4Aase
ALIAS_PROT: NUDIX motif 2
ALIAS_PROT: Ap4A hydrolase 1
ALIAS_PROT: diadenosine tetraphosphatase
ALIAS_PROT: bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)
ALIAS_PROT: diadenosine 5',5"'-P1,P4-tetraphosphate pyrophosphohydrolase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=429142
UNIGENE: Hs.429142
OMIM: 602852
ECNUM: 3.6.1.17
MAP: 9p13|HUGO|C|
MAPLINK: default_human_gene|NUDT2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=318
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=318[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6054177
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001161
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001161
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+318
DB_DESCR: KEGG pathway: Pyrimidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00240+318
PMID: 12477932,11738085,10452553,9479504,8810257,7487923
GO: molecular function|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|ISS|GO:0004081|GOA|11738085
GO: molecular function|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|TAS|GO:0008803|GOA|7487923
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|induction of apoptosis|ISS|GO:0006917|GOA|10452553
GO: biological process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|TAS|GO:0006139|GOA|7487923
>>319
LOCUSID: 319
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001638|50659075|na
NP: NP_001629|4502165
PRODUCT: apolipoprotein F precursor
ASSEMBLY: BC026257
CONTIG: NT_029419.10|29803948|na|18867356|18899883|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_001638|50659075|na
XP: NP_001629|4502165|na
ACCNUM: BC026257|20072209|na|na|na
TYPE: m
PROT: AAH26257|20072210|1
ACCNUM: L27050|435966|na|na|na
TYPE: m
PROT: AAA65642|435967|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13790|2492916|0
OFFICIAL_SYMBOL: APOF
OFFICIAL_GENE_NAME: apolipoprotein F
ALIAS_SYMBOL: Apo-F
ALIAS_SYMBOL: MGC22520
PREFERRED_PRODUCT: apolipoprotein F precursor
SUMMARY: Summary: The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol.
CHR: 12
STS: STS-L27050|12|73938|na|seq_map|epcr
COMP: 36074|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A319[id]+AND+gene[obj_type]&QSTR=apof&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=72988
UNIGENE: Hs.72988
OMIM: 107760
MAP: 12q13.13|RefSeq|C|
MAPLINK: default_human_gene|APOF
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=319
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:391034
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001638
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001638
PMID: 12907677,12477932,9880564,8093033,6816269,204339
GO: molecular function|cholesterol binding|TAS|GO:0015485|GOA|6816269
GO: biological process|cholesterol metabolism|TAS|GO:0008203|GOA|6816269
GO: cellular component|extracellular space|NR|GO:0005615|GOA|na
GO: molecular function|high-density lipoprotein binding|NR|GO:0008035|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|8093033
GO: biological process|lipid transport|TAS|GO:0006869|GOA|6816269
GO: molecular function|lipid transporter activity|TAS|GO:0005319|GOA|6816269
GO: molecular function|receptor binding|TAS|GO:0005102|GOA|8093033
>>320
LOCUSID: 320
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001163|22035547|na
NP: NP_001154|22035548
CDD: pfam00595: PDZ domain (Also known as DHR or GLGF)|23039|163|na|6.682620e+01
CDD: pfam00640: Phosphotyrosine interaction domain (PTB/PID)|4284|331|na|1.315700e+02
CDD: KOG3605: Beta amyloid precursor-binding protein [General function prediction only]|21386|2732|na|1.056610e+03
PRODUCT: amyloid beta A4 precursor protein-binding, family A, member 1
ASSEMBLY: AF047347
CONTIG: NT_023935.16|37539725|na|1209734|1451754|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_001163|22035547|na
XP: NP_001154|22035548|na
ACCNUM: Z32676|474429|na|na|na
TYPE: g
ACCNUM: AF029106|2625024|na|na|na
TYPE: m
PROT: AAC05304|2625025|1
ACCNUM: AF047347|3005557|na|na|na
TYPE: m
PROT: AAC39766|3005558|1
ACCNUM: L04953|340408|na|na|na
TYPE: m
PROT: AAA61307|340409|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q02410|6226838|0
OFFICIAL_SYMBOL: APBA1
OFFICIAL_GENE_NAME: amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)
ALIAS_SYMBOL: X11
ALIAS_SYMBOL: X11A
ALIAS_SYMBOL: MINT1
ALIAS_SYMBOL: D9S411E
ALIAS_SYMBOL: X11ALPHA
PREFERRED_PRODUCT: amyloid beta A4 precursor protein-binding, family A, member 1
SUMMARY: Summary: The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adaptor protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilises APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion.
CHR: 9
STS: D9S411E|9|49085|D9S411E|na|epcr
STS: RH17597|9|51173|na|seq_map|epcr
STS: G15857|9|56847|na|seq_map|epcr
COMP: 897|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A320[id]+AND+gene[obj_type]&QSTR=apba1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adaptor protein X11alpha
ALIAS_PROT: neuron-specific X11 protein
ALIAS_PROT: neuronal munc18-1-interacting protein 1
ALIAS_PROT: phosphotyrosine-binding/-interacting domain (PTB)-bearing protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=4880
UNIGENE: Hs.4880
OMIM: 602414
MAP: 9q13-q21.1|RefSeq|C|
MAPLINK: default_human_gene|APBA1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=320
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=320[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6277905
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001163
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001163
DB_DESCR: KEGG pathway: Alzheimer's disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05010+320
PMID: 12970358,12849748,12016213,11083918,11036064,9822620,9753324,9614075,9585438,9395480,9321393,8887653,7719031,7678331,7545337,1968060
GO: biological process|axon cargo transport|TAS|GO:0008088|GOA|9822620
GO: biological process|cell adhesion|TAS|GO:0007155|GOA|9753324
GO: biological process|intracellular protein transport|TAS|GO:0006886|GOA|9614075
GO: biological process|neurogenesis|TAS|GO:0007399|GOA|9753324
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
GO: biological process|protein complex assembly|TAS|GO:0006461|GOA|9614075,9753324
GO: biological process|synaptic transmission|TAS|GO:0007268|GOA|9753324
GO: cellular component|synaptic vesicle|TAS|GO:0008021|GOA|9753324
>>321
LOCUSID: 321
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005503|22035549|na
NP: NP_005494|22035550
CDD: pfam00595: PDZ domain (Also known as DHR or GLGF)|25565|166|na|6.799370e+01
CDD: pfam00640: Phosphotyrosine interaction domain (PTB/PID)|24449|326|na|1.296430e+02
CDD: KOG3605: Beta amyloid precursor-binding protein [General function prediction only]|21386|2417|na|9.352740e+02
PRODUCT: amyloid beta A4 precursor protein-binding, family A, member 2
ASSEMBLY: AB014719,AF047348
CONTIG: NT_010194.16|37540936|na|4410|201072|+|15|reference
EVID: supported by alignment with mRNA
XM: NM_005503|22035549|na
XP: NP_005494|22035550|na
ACCNUM: AB014719|3953612|na|na|na
TYPE: m
PROT: BAA34734|3953613|1
ACCNUM: AF029108|2625028|na|na|na
TYPE: m
PROT: AAC05306|2625029|1
ACCNUM: AF047348|3005559|na|na|na
TYPE: m
PROT: AAC39767|3005560|1
ACCNUM: BC007794|39645227|na|na|na
TYPE: m
ACCNUM: U79255|1710207|na|na|na
TYPE: m
PROT: AAB50203|1710208|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q99767|6226950|0
OFFICIAL_SYMBOL: APBA2
OFFICIAL_GENE_NAME: amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)
ALIAS_SYMBOL: X11L
ALIAS_SYMBOL: MINT2
ALIAS_SYMBOL: LIN-10
ALIAS_SYMBOL: HsT16821
ALIAS_SYMBOL: D15S1518E
ALIAS_SYMBOL: MGC:14091
PREFERRED_PRODUCT: amyloid beta A4 precursor protein-binding, family A, member 2
SUMMARY: Summary: The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adaptor protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilises APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion.
CHR: 15
ALIAS_PROT: X11-like protein
ALIAS_PROT: adapter protein X11beta
ALIAS_PROT: neuron-specific X11L protein
ALIAS_PROT: neuronal munc18-1-interacting protein 2
ALIAS_PROT: amyloid beta A4 precursor protein-binding, family A, member 2
ALIAS_PROT: phosphotyrosine-binding/-interacting domain (PTB)-bearing protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26468
UNIGENE: Hs.26468
OMIM: 602712
MAP: 15q11-q12|RefSeq|C|
MAPLINK: default_human_gene|APBA2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=321
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=321[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6277907
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005503
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005503
PMID: 12780348,12720574,12477932,11083918,11036064,10833507,10777610,10336668,9890987,9860131,9822620,9614075,9585438,9395480,9110174,8955346,8619474,7545337
GO: biological process|neurogenesis|TAS|GO:0007399|GOA|9890987
GO: molecular function|protein binding|TAS|GO:0005515|GOA|9890987
GO: biological process|protein transport|IEA|GO:0015031|GOA|na
>>322
LOCUSID: 322
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001164|22035552|na
NP: NP_001155|4502131
CDD: pfam00397: WW domain|9144|105|na|4.433700e+01
CDD: pfam00640: Phosphotyrosine interaction domain (PTB/PID)|4284|310|na|1.234810e+02
CDD: KOG1891: Proline binding protein WW45 [General function prediction only]|19677|106|na|4.507770e+01
PRODUCT: amyloid beta A4 precursor protein-binding, family B, member 1 isoform E9
TRANSVAR: Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (E9). This isoform is exclusively expressed in neurons.
ASSEMBLY: L77864
NM: NM_145689|22035553|na
NP: NP_663722|22035554
CDD: pfam00397: WW domain|9144|105|na|4.433700e+01
CDD: pfam00640: Phosphotyrosine interaction domain (PTB/PID)|4284|312|na|1.242510e+02
CDD: KOG1891: Proline binding protein WW45 [General function prediction only]|19677|107|na|4.546290e+01
PRODUCT: amyloid beta A4 precursor protein-binding, family B, member 1 isoform delta E9
TRANSVAR: Transcript Variant: This variant (2) differs in the 5' UTR and the coding region (compared to variant 1). This results in a protein that maintains the reading frame but is a shorter isoform (delta E9), compared to isoform E9. This encoded isoform (delta E9) is widely expressed in all non-neuronal cells, but is not expressed in differentiated neurons.
ASSEMBLY: BC010854
CONTIG: NT_009237.16|37541814|na|5180295|5204584|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_001164|22035552|na
XP: NP_001155|4502131|na
EVID: supported by alignment with mRNA
XM: NM_145689|22035553|na
XP: NP_663722|22035554|na
ACCNUM: AF029233|3924932|na|na|na
TYPE: g
ACCNUM: AF029234|3929526|na|na|na
TYPE: g
PROT: AAC79942|3924936|1
ACCNUM: AF047835|3924933|na|na|na
TYPE: g
PROT: AAC79942|3924936|1
ACCNUM: AF394214|18845010|na|na|na
TYPE: m
PROT: AAL79526|18845011|1
ACCNUM: BC010854|34189980|na|na|na
TYPE: m
PROT: AAH10854|14790013|1
ACCNUM: BX538185|31874637|na|na|na
TYPE: m
PROT: CAD98057|31874638|1
ACCNUM: L77864|2734082|na|na|na
TYPE: m
PROT: AAB93631|2734083|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O00213|12229629|0
OFFICIAL_SYMBOL: APBB1
OFFICIAL_GENE_NAME: amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
ALIAS_SYMBOL: RIR
ALIAS_SYMBOL: FE65
ALIAS_SYMBOL: MGC:9072
PREFERRED_PRODUCT: amyloid beta A4 precursor protein-binding, family B, member 1 isoform E9
PREFERRED_PRODUCT: amyloid beta A4 precursor protein-binding, family B, member 1 isoform delta E9
SUMMARY: Summary: The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants have been described for this gene but some of their full length sequence is not known.
CHR: 11
STS: A002D29|11|17869|na|seq_map|epcr
STS: D11S4426|-|21687|D11S4426|na|epcr
STS: SMPD1|-|48627|na|na|epcr
STS: GDB:197904|-|155997|na|na|epcr
COMP: 898|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A322[id]+AND+gene[obj_type]&QSTR=apbb1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: stat-like protein
ALIAS_PROT: adaptor protein FE65a2
ALIAS_PROT: amyloid beta A4 precursor protein-binding, family B, member 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=378063
UNIGENE: Hs.378063
OMIM: 602709
MAP: 11p15|HUGO|C|
MAPLINK: default_human_gene|APBB1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=322
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=322[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5952607
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/5952607.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001164
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001164
DB_DESCR: KEGG pathway: Alzheimer's disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05010+322
PMID: 15044485,15037614,14569203,12888553,12843239,12779321,12727304,12653567,12477932,12089154,11854179,11606623,11441186,11095528,11085987,10561691,9799084,9738440,9685356,9585438,9045663,8955346,8894693
GO: biological process|actin filament-based movement|ISS|GO:0030048|GOA|na
GO: biological process|axonogenesis|ISS|GO:0007409|GOA|12843239
GO: biological process|axonogenesis|NAS|GO:0007409|GOA|12843239
GO: molecular function|beta-amyloid binding|ISS|GO:0001540|GOA|8894693
GO: molecular function|beta-amyloid binding|NAS|GO:0001540|GOA|8894693
GO: biological process|cell cycle arrest|ISS|GO:0007050|GOA|na
GO: cellular component|growth cone|IDA|GO:0030426|GOA|12843239
GO: cellular component|growth cone|ISS|GO:0030426|GOA|12843239
GO: molecular function|histone acetyltransferase binding|ISS|GO:0035035|GOA|na
GO: cellular component|lamellipodium|IDA|GO:0030027|GOA|12843239
GO: cellular component|lamellipodium|ISS|GO:0030027|GOA|12843239
GO: biological process|negative regulation of S phase of mitotic cell cycle|ISS|GO:0045749|GOA|na
GO: biological process|negative regulation of cell growth|ISS|GO:0030308|GOA|na
GO: biological process|negative regulation of thymidylate synthase biosynthesis|ISS|GO:0050760|GOA|na
GO: cellular component|nucleus|ISS|GO:0005634|GOA|na
GO: biological process|protein stabilization|ISS|GO:0050821|GOA|na
GO: biological process|regulation of transcription|ISS|GO:0045449|GOA|na
GO: biological process|signal transduction|ISS|GO:0007165|GOA|8894693
GO: biological process|signal transduction|NAS|GO:0007165|GOA|8894693
GO: cellular component|synapse|IDA|GO:0045202|GOA|12843239
GO: cellular component|synapse|ISS|GO:0045202|GOA|12843239
GO: molecular function|transcription factor binding|ISS|GO:0008134|GOA|na
>>323
LOCUSID: 323
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_173075|50083290|na
NP: NP_775098|50083291
CDD: cd00201: Two conserved tryptophans domain|14847|105|na|4.436970e+01
CDD: cd00149: Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain|14825|262|na|1.050630e+02
PRODUCT: amyloid beta A4 precursor protein-binding, family B, member 2
ASSEMBLY: AL596608,AL600779,BC027946,BM546260,CF552608
CONTIG: NT_006238.10|29791548|na|518590|918441|-|4|reference
EVID: supported by alignment with mRNA
XM: NM_173075|50083290|na
XP: NP_775098|50083291|na
ACCNUM: AK024871|10437282|na|na|na
TYPE: m
ACCNUM: AL596608|15154304|na|na|na
TYPE: m
ACCNUM: AL600779|15164285|na|na|na
TYPE: m
ACCNUM: BC027946|24081023|na|na|na
TYPE: m
PROT: AAH27946|24081024|1
ACCNUM: BM546260|18779077|na|na|na
TYPE: m
ACCNUM: CF552608|34889442|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q92870|12229651|0
OFFICIAL_SYMBOL: APBB2
OFFICIAL_GENE_NAME: amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like)
ALIAS_SYMBOL: FE65L
ALIAS_SYMBOL: FE65L1
ALIAS_SYMBOL: MGC35575
PREFERRED_PRODUCT: amyloid beta A4 precursor protein-binding, family B, member 2
SUMMARY: Summary: The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction.
CHR: 4
STS: D4S3272|4|1294|D4S3272|seq_map|epcr
STS: SHGC-51476|-|1972|na|na|epcr
STS: SHGC-59600|4|3152|na|seq_map|epcr
STS: D4S2651|-|6743|D4S2651|na|epcr
STS: SHGC-50280|-|12642|na|na|epcr
STS: D4S2546E|4|40793|D4S2546E|seq_map|epcr
STS: SHGC-59693|-|42617|na|na|epcr
STS: STS-R35307|-|55398|na|na|epcr
STS: D4S999|-|68304|D4S999|na|epcr
STS: D4S2919|-|75039|D4S2919|na|epcr
STS: SHGC-78054|-|101582|na|na|epcr
STS: SHGC-142169|-|171297|na|na|epcr
STS: SHGC-149747|-|177193|na|na|epcr
COMP: 32079|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A323[id]+AND+gene[obj_type]&QSTR=apbb2&cmd=focus&fill=10|Mouse
ALIAS_PROT: Fe65-like
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324125
UNIGENE: Hs.324125
OMIM: 602710
MAP: 4p14|RefSeq|C|
MAPLINK: default_human_gene|APBB2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=323
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=323[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6278609
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_173075
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_173075
DB_DESCR: KEGG pathway: Alzheimer's disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05010+323
DB_DESCR: PharmGKB: PA24874
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24874
PMID: 14527950,12477932,9585438,8955346,8855266
GO: biological process|actin filament-based movement|ISS|GO:0030048|GOA|na
GO: biological process|axonogenesis|ISS|GO:0007409|GOA|na
GO: molecular function|beta-amyloid binding|ISS|GO:0001540|GOA|na
GO: biological process|cell cycle arrest|ISS|GO:0007050|GOA|na
GO: cellular component|growth cone|ISS|GO:0030426|GOA|na
GO: molecular function|histone acetyltransferase binding|ISS|GO:0035035|GOA|na
GO: biological process|intracellular signaling cascade|NAS|GO:0007242|GOA|8855266
GO: cellular component|lamellipodium|ISS|GO:0030027|GOA|na
GO: cellular component|membrane|NAS|GO:0016020|GOA|8855266
GO: biological process|negative regulation of S phase of mitotic cell cycle|ISS|GO:0045749|GOA|na
GO: biological process|negative regulation of cell growth|ISS|GO:0030308|GOA|na
GO: cellular component|nucleus|ISS|GO:0005634|GOA|na
GO: biological process|protein stabilization|ISS|GO:0050821|GOA|na
GO: biological process|regulation of transcription|ISS|GO:0045449|GOA|na
GO: cellular component|synapse|ISS|GO:0045202|GOA|na
GO: molecular function|transcription factor binding|ISS|GO:0008134|GOA|na
>>324
LOCUSID: 324
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000038|21626462|na
NP: NP_000029|4557319
CDD: cd00020: Armadillo/beta-catenin-like repeats|14764|203|na|8.232360e+01
CDD: KOG2122: Beta-catenin-binding protein APC, contains ARM repeats [Signal transduction mechanisms, Cytoskeleton]|19908|2433|na|9.414970e+02
PRODUCT: adenomatosis polyposis coli
ASSEMBLY: M73548,M74088
CONTIG: NT_034772.5|37550270|na|14488621|14628954|+|5|reference
EVID: supported by alignment with mRNA
XM: NM_000038|21626462|na
XP: NP_000029|4557319|na
ACCNUM: M73548|190163|na|na|na
TYPE: m
PROT: AAA60353|190165|1
PROT: AAA60354|190164|1
ACCNUM: M74088|182396|na|na|na
TYPE: m
PROT: AAA03586|182397|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P25054|114033|0
OFFICIAL_SYMBOL: APC
OFFICIAL_GENE_NAME: adenomatosis polyposis coli
ALIAS_SYMBOL: GS
ALIAS_SYMBOL: DP2
ALIAS_SYMBOL: DP3
ALIAS_SYMBOL: FAP
ALIAS_SYMBOL: FPC
ALIAS_SYMBOL: DP2.5
PREFERRED_PRODUCT: adenomatosis polyposis coli
SUMMARY: Summary: The metabolic function of the APC gene is not known.  Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy.  Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product.
CHR: 5
STS: SHGC-31463|5|43258|na|seq_map|epcr
STS: humapc3|-|61836|na|na|epcr
STS: RH65746|-|79417|na|na|epcr
STS: RH94067|5|85831|na|seq_map|epcr
STS: GDB:186687|5|155501|na|seq_map|epcr
STS: GDB:186862|-|155515|na|na|epcr
STS: GDB:249465|5|156281|na|seq_map|epcr
STS: GDB:374804|5|156966|na|seq_map|epcr
STS: GDB:374815|5|156969|na|seq_map|epcr
STS: GDB:437971|5|157263|na|seq_map|epcr
STS: PMC122454P1|-|270391|na|na|epcr
STS: PMC122454P7|-|270395|na|na|epcr
STS: PMC122454P8|-|270396|na|na|epcr
COMP: 30950|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A324[id]+AND+gene[obj_type]&QSTR=apc&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75081
UNIGENE: Hs.75081
OMIM: 175100
MAP: 5q21-q22|HUGO|C|
MAPLINK: default_human_gene|APC
PHENOTYPE: Adenoma, periampullary
PHENOTYPE_ID: 175100
PHENOTYPE: Adenomatous polyposis coli
PHENOTYPE_ID: 175100
PHENOTYPE: Adenomatous polyposis coli, attenuated
PHENOTYPE_ID: 175100
PHENOTYPE: Colorectal cancer
PHENOTYPE_ID: 175100
PHENOTYPE: Desmoid disease, hereditary
PHENOTYPE_ID: 135290
PHENOTYPE: Gardner syndrome
PHENOTYPE_ID: 175100
PHENOTYPE: Gastric cancer
PHENOTYPE_ID: 137215
PHENOTYPE: Turcot syndrome
PHENOTYPE_ID: 276300
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=324
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=324[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119682
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119682.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000038
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000038
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=175100
DB_DESCR: KEGG pathway: Wnt signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04310+324
DB_DESCR: APC Mutation Database
DB_LINK: http://perso.curie.fr/Thierry.Soussi/APC.html
PMID: 15040027,15020226,14991743,14961559,14729851,14691304,14679305,14662741,14574158,14520463,14514668,12955080,12907646,12901799,12800196,12800081,12737446,12655564,12647217,12606575,12581900,12575848,12538344,12504226,12485844,12439748,12387883,12378616,12374230,12173026,12163385,12136240,12124804,12093899,12070164,12045208,12034871,11972058,11956815,11933206,11921277,11920497,11912492,11891193,11868006,11856748,11809682,11809680,11768390,11768389,11754114,11751382,11748858,11741105,11696170,11668620,11584047,8638126,8259518,1678319,1651563,1651562
GO: biological process|Wnt receptor signaling pathway|IEA|GO:0016055|GOA|na
GO: molecular function|beta-catenin binding|TAS|GO:0008013|GOA|8259518
GO: biological process|cell adhesion|TAS|GO:0007155|GOA|8259518
GO: molecular function|microtubule binding|IEA|GO:0008017|GOA|na
GO: biological process|negative regulation of cell cycle|IEA|GO:0045786|GOA|na
GO: biological process|protein complex assembly|TAS|GO:0006461|GOA|8638126
GO: biological process|signal transduction|TAS|GO:0007165|GOA|8638126
>>325
LOCUSID: 325
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001639|18375514|na
NP: NP_001630|4502133
CDD: pfam00354: Pentaxin family|7576|823|na|3.211060e+02
PRODUCT: serum amyloid P component precursor
ASSEMBLY: BC007058,X04608
CONTIG: NT_079484.1|37549803|na|6007448|6008493|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_001639|18375514|na
XP: NP_001630|4502133|na
ACCNUM: D00097|220067|na|na|na
TYPE: g
PROT: BAA00060|220068|1
ACCNUM: BC007039|13937866|na|na|na
TYPE: m
PROT: AAH07039|13937867|1
ACCNUM: BC007058|13937898|na|na|na
TYPE: m
PROT: AAH07058|13937899|1
ACCNUM: BT006750|30582338|na|na|na
TYPE: m
PROT: AAP35396|30582339|1
ACCNUM: CR450313|47496572|na|na|na
TYPE: m
PROT: CAG29309|47496573|1
ACCNUM: M10944|337757|na|na|na
TYPE: m
PROT: AAA60302|337758|1
ACCNUM: X04608|36330|na|na|na
TYPE: m
PROT: CAA28275|36331|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02743|730704|0
OFFICIAL_SYMBOL: APCS
OFFICIAL_GENE_NAME: amyloid P component, serum
ALIAS_SYMBOL: SAP
ALIAS_SYMBOL: PTX2
PREFERRED_PRODUCT: serum amyloid P component precursor
SUMMARY: Summary: The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. This gene has multiple polyadenylation sites.
CHR: 1
STS: RH11639|1|3652|na|seq_map|epcr
STS: D1S2412|1|77871|D1S2412|seq_map|epcr
STS: D1S3199|1|79493|D1S3199|na|epcr
STS: RH93185|-|88654|na|na|epcr
COMP: 1239|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A325[id]+AND+gene[obj_type]&QSTR=apcs&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: pentaxin-related
ALIAS_PROT: 9.5S alpha-1-glycoprotein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1957
UNIGENE: Hs.1957
OMIM: 104770
MAP: 1q21-q23|HUGO|C|
MAPLINK: default_human_gene|APCS
PHENOTYPE: ?Amyloidosis, secondary, susceptibility to
PHENOTYPE_ID: 104770
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=325
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=325[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118999
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001639
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001639
PMID: 14607961,14500533,12528126,12477932,12126626,12100475,12015594,11984001,11441067,10972085,10812074,9217261,8114934,4055725,3759147,3029048,2987268
GO: biological process|DNA packaging|NR|GO:0006323|GOA|na
GO: biological process|acute-phase response|TAS|GO:0006953|GOA|2987268
GO: molecular function|chaperone activity|TAS|GO:0003754|GOA|10812074
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|10972085
GO: biological process|heterophilic cell adhesion|IEA|GO:0007157|GOA|na
GO: biological process|protein complex assembly, multichaperone pathway|TAS|GO:0006462|GOA|10972085
GO: biological process|protein folding|TAS|GO:0006457|GOA|10812074
GO: molecular function|sugar binding|IEA|GO:0005529|GOA|na
>>326
LOCUSID: 326
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000383|4557290|na
NP: NP_000374|4557291
CDD: pfam00628: PHD-finger|16785|150|na|6.200020e+01
CDD: pfam01342: SAND domain|23183|208|na|8.417520e+01
CDD: pfam03172: Sp100 domain|4932|365|na|1.446860e+02
CDD: KOG0383: Predicted helicase [General function prediction only]|18179|614|na|2.406620e+02
PRODUCT: autoimmune regulator AIRE isoform 1
TRANSVAR: Transcript Variant:  This is splice variant 1; it encodes protein isoform 1.
ASSEMBLY: Z97990
NM: NM_000658|4557292|na
NP: NP_000649|4557293
CDD: pfam00628: PHD-finger|16785|127|na|5.314070e+01
CDD: KOG0383: Predicted helicase [General function prediction only]|18179|682|na|2.668560e+02
PRODUCT: autoimmune regulator AIRE isoform 2
TRANSVAR: Transcript Variant:  This is splice variant 2; it encodes protein isoform 2.
ASSEMBLY: AB006683
NM: NM_000659|4557294|na
NP: NP_000650|4557295
CDD: pfam00628: PHD-finger|16785|118|na|4.967390e+01
CDD: KOG0383: Predicted helicase [General function prediction only]|18179|386|na|1.528370e+02
PRODUCT: autoimmune regulator AIRE isoform 3
TRANSVAR: Transcript Variant:  This is splice variant 3; it encodes protein isoform 3.
ASSEMBLY: AB006685
CONTIG: NT_011515.10|29806340|na|1018501|1030840|+|21|reference
EVID: supported by alignment with mRNA
XM: NM_000383|4557290|na
XP: NP_000374|4557291|na
EVID: supported by alignment with mRNA
XM: NM_000658|4557292|na
XP: NP_000649|4557293|na
EVID: supported by alignment with mRNA
XM: NM_000659|4557294|na
XP: NP_000650|4557295|na
ACCNUM: AB006684|2696618|na|na|na
TYPE: g
PROT: BAA23990|2696619|1
PROT: BAA23991|2696620|1
PROT: BAA23992|2696621|1
ACCNUM: AJ009610|3392939|na|na|na
TYPE: g
PROT: CAA08759|3392940|1
ACCNUM: AB006682|2696614|na|na|na
TYPE: m
PROT: BAA23988|2696615|1
ACCNUM: AB006683|2696616|na|na|na
TYPE: m
PROT: BAA23989|2696617|1
ACCNUM: AB006685|2696622|na|na|na
TYPE: m
PROT: BAA23993|2696623|1
ACCNUM: Z97990|2665370|na|na|na
TYPE: m
PROT: CAB10790|2665371|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O43918|3334119|0
OFFICIAL_SYMBOL: AIRE
OFFICIAL_GENE_NAME: autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
ALIAS_SYMBOL: APS1
ALIAS_SYMBOL: APSI
ALIAS_SYMBOL: PGA1
ALIAS_SYMBOL: APECED
PREFERRED_PRODUCT: autoimmune regulator AIRE isoform 1
PREFERRED_PRODUCT: autoimmune regulator AIRE isoform 2
PREFERRED_PRODUCT: autoimmune regulator AIRE isoform 3
SUMMARY: Summary: The function of the protein encoded by this gene is not well defined, however it contains zinc finger motifs suggestive of a transcription factor. The protein (isoform 1) is localized to both the nucleus and cytoplasm. Three splice variant mRNAs products have been described [1]. The longer AIRE-1 mRNA appears to be more abundant and includes exons 1 through 14. Splice variant AIRE-2 includes a portion of the non-coding region of exon 1, an alternatively spliced longer exon 8, plus exons 9 through 14. Variant AIRE-3 includes the same exon 1-8-9 sequences as found in AIRE-2 but utilizes additional alternative splicing in exon 10 that shifts the reading frame such that a stop codon in exon 12 is utilized. The resulting protein products of these splice variants are differ significantly. Defects in this gene cause the autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
CHR: 21
COMP: 327|21|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=21&MAPS=genes-r-org/rat-chr/human%3A21,genes-r-org/mouse-chr/human%3A21,genes-r-org/human-chr21&query=e%3A326[id]+AND+gene[obj_type]&QSTR=aire&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: AIRE protein
ALIAS_PROT: APECED protein
ALIAS_PROT: autoimmune regulator (automimmune polyendocrinopathy candidiasis ectodermal dystrophy)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129829
UNIGENE: Hs.129829
OMIM: 607358
MAP: 21q22.3|HUGO|C|
MAPLINK: default_human_gene|AIRE
PHENOTYPE: Autoimmune polyglandular disease, type I
PHENOTYPE_ID: 240300
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=326
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=326[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:567198
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000383
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000383
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=240300
DB_DESCR: Genes and Disease
DB_LINK: http://www.ncbi.nlm.nih.gov/disease/APS.html
PMID: 12651856,12625412,12542742,12050215,11803052,9931335,9735375,9398840,9398839,9267805,7987397
GO: molecular function|DNA binding|IEA|GO:0003677|GOA|na
GO: cellular component|cytoplasm|IEA|GO:0005737|GOA|na
GO: biological process|humoral immune response|IEA|GO:0006959|GOA|na
GO: cellular component|nucleus|NAS|GO:0005634|GOA|9398840
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|9398840
GO: biological process|regulation of transcription, DNA-dependent|NAS|GO:0006355|GOA|9398840
GO: molecular function|transcription factor activity|TAS|GO:0003700|GOA|9398839
GO: molecular function|translation regulator activity|IEA|GO:0045182|GOA|na
>>327
LOCUSID: 327
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001640|23510450|na
NP: NP_001631|23510451
CDD: pfam01738: Dienelactone hydrolase family|2268|97|na|4.143320e+01
CDD: COG0400: Predicted esterase [General function prediction only]|10274|94|na|4.027040e+01
CDD: cd00312: Esterases and lipases (includes fungal lipases, cholinesterases, etc|16555|94|na|4.029330e+01
CDD: COG0823: Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking and secretion]|10690|118|na|4.966270e+01
PRODUCT: N-acylaminoacyl-peptide hydrolase
ASSEMBLY: BC001499
CONTIG: NT_022517.16|37550163|na|49635447|49644946|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_001640|23510450|na
XP: NP_001631|23510451|na
ACCNUM: AF141383|7144647|na|na|na
TYPE: m
PROT: AAF37321|7144648|1
ACCNUM: BC000362|33875348|na|na|na
TYPE: m
PROT: AAH00362|12653189|1
ACCNUM: BC001499|33876297|na|na|na
TYPE: m
PROT: AAH01499|16306646|1
ACCNUM: BC001826|33876465|na|na|na
TYPE: m
PROT: AAH01826|12804773|1
ACCNUM: D38441|556513|na|na|na
TYPE: m
PROT: BAA07476|556514|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P13798|38258902|0
OFFICIAL_SYMBOL: APEH
OFFICIAL_GENE_NAME: N-acylaminoacyl-peptide hydrolase
ALIAS_SYMBOL: APH
ALIAS_SYMBOL: OPH
ALIAS_SYMBOL: ACPH
ALIAS_SYMBOL: D3S48E
ALIAS_SYMBOL: D3F15S2
ALIAS_SYMBOL: DNF15S2
ALIAS_SYMBOL: MGC2178
PREFERRED_PRODUCT: N-acylaminoacyl-peptide hydrolase
SUMMARY: Summary:  This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma.
CHR: 3
STS: WI-16108|3|2785|na|na|epcr
STS: APEH|-|253958|na|na|epcr
COMP: 1240|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A327[id]+AND+gene[obj_type]&QSTR=apeh&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: acylaminoacyl-peptidase
ALIAS_PROT: oxidized protein hydrolase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=221589
UNIGENE: Hs.221589
OMIM: 102645
ECNUM: 3.4.19.1
MAP: 3p21.31|RefSeq|C|
MAPLINK: default_human_gene|APEH
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=327
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=327[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127917
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001640
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001640
PMID: 12477932,10719179,8724851,8411161,2565880,2392324,2006156
GO: molecular function|acylaminoacyl-peptidase activity|TAS|GO:0004254|GOA|2006156
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|prolyl oligopeptidase activity|IEA|GO:0004287|GOA|na
GO: biological process|proteolysis and peptidolysis|IEA|GO:0006508|GOA|na
GO: molecular function|serine-type peptidase activity|IEA|GO:0008236|GOA|na
>>328
LOCUSID: 328
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001641|18375500|na
NP: NP_001632|18375501
CDD: pfam03372: Endonuclease/Exonuclease/phosphatase family|26060|413|na|1.636720e+02
PRODUCT: APEX nuclease
TRANSVAR: Transcript Variant: This variant (1) contains the full-length first exon and is the longest transcript.
ASSEMBLY: BC002338,D13370
NM: NM_080648|18375502|na
NP: NP_542379|18375503
CDD: pfam03372: Endonuclease/Exonuclease/phosphatase family|26060|413|na|1.636720e+02
PRODUCT: APEX nuclease
TRANSVAR: Transcript Variant: This variant (2) uses a different donor splice site for exon 1 when compared to variant 1.
ASSEMBLY: BC004979,D13370
NM: NM_080649|18375504|na
NP: NP_542380|18375505
CDD: pfam03372: Endonuclease/Exonuclease/phosphatase family|26060|413|na|1.636720e+02
PRODUCT: APEX nuclease
TRANSVAR: Transcript Variant: This variant (3) uses a donor splice site for exon 1 downstream of that used by variant 2.
ASSEMBLY: BC004979,D13370
CONTIG: NT_026437.10|29736559|na|843418|846054|+|14|reference
EVID: supported by alignment with mRNA
XM: NM_001641|18375500|na
XP: NP_001632|18375501|na
EVID: supported by alignment with mRNA
XM: NM_080648|18375502|na
XP: NP_542379|18375503|na
EVID: supported by alignment with mRNA
XM: NM_080649|18375504|na
XP: NP_542380|18375505|na
ACCNUM: AF488551|19339021|na|na|na
TYPE: g
PROT: AAL86909|19339022|1
ACCNUM: D13370|219473|na|na|na
TYPE: g
PROT: BAA02633|219474|1
ACCNUM: M92444|183779|na|na|na
TYPE: g
PROT: AAA58629|183780|1
ACCNUM: M99703|178748|na|na|na
TYPE: g
PROT: AAA58373|553182|1
ACCNUM: X66133|32021|na|na|na
TYPE: g
PROT: CAA46925|32022|1
ACCNUM: AK098588|21758637|na|na|na
TYPE: m
ACCNUM: BC002338|33876570|na|na|na
TYPE: m
PROT: AAH02338|12803075|1
ACCNUM: BC004979|13436403|na|na|na
TYPE: m
PROT: AAH04979|13436404|1
ACCNUM: BC008145|14198173|na|na|na
TYPE: m
PROT: AAH08145|14198174|1
ACCNUM: BC019291|17939645|na|na|na
TYPE: m
PROT: AAH19291|17939646|1
ACCNUM: BT007236|30583310|na|na|na
TYPE: m
PROT: AAP35900|30583311|1
ACCNUM: D90373|219477|na|na|na
TYPE: m
PROT: BAA14381|219478|1
ACCNUM: M80261|178742|na|na|na
TYPE: m
PROT: AAA58371|178743|1
ACCNUM: M81955|178746|na|na|na
TYPE: m
PROT: AAA58372|178747|1
ACCNUM: S43127|254068|na|na|na
TYPE: m
PROT: AAB22977|254069|1
ACCNUM: U79268|1710231|na|na|na
TYPE: m
PROT: AAB50212|1710232|1
ACCNUM: X59764|32023|na|na|na
TYPE: m
PROT: CAA42437|32024|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P27695|113984|0
OFFICIAL_SYMBOL: APEX1
OFFICIAL_GENE_NAME: APEX nuclease (multifunctional DNA repair enzyme) 1
ALIAS_SYMBOL: APE
ALIAS_SYMBOL: APX
ALIAS_SYMBOL: APE1
ALIAS_SYMBOL: APEN
ALIAS_SYMBOL: APEX
ALIAS_SYMBOL: HAP1
ALIAS_SYMBOL: REF1
ALIAS_SYMBOL: REF-1
PREFERRED_PRODUCT: APEX nuclease
SUMMARY: Summary: Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein.
CHR: 14
STS: WI-18729|14|63042|na|seq_map|epcr
STS: D2S2636|2;|70413|D2S2636|na|epcr
COMP: 1241|14|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=14&MAPS=genes-r-org/rat-chr/human%3A14,genes-r-org/mouse-chr/human%3A14,genes-r-org/human-chr14&query=e%3A328[id]+AND+gene[obj_type]&QSTR=apex1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: AP lyase
ALIAS_PROT: AP endonuclease class I
ALIAS_PROT: apurinic/apyrimidinic exonuclease
ALIAS_PROT: multifunctional DNA repair enzyme
ALIAS_PROT: DNA-(apurinic or apyrimidinic site) lyase
ALIAS_PROT: apurinic/apyrimidinic (abasic) endonuclease
ALIAS_PROT: deoxyribonuclease (apurinic or apyrimidinic)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73722
UNIGENE: Hs.73722
OMIM: 107748
ECNUM: 4.2.99.18
MAP: 14q11.2-q12|HUGO|C|
MAPLINK: default_human_gene|APEX1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=328
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=328[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:437586
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001641
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001641
DB_DESCR: PharmGKB: PA201059
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA201059
PMID: 15107486,14730972,14704345,14630715,14599768,14594818,14581338,14521941,12966083,12933815,12860125,12857737,12842873,12624104,12569263,12547389,12519758,12480540,12477932,12384995,12242029,12237116,12231548,12230304,12200445,12161506,12058277,11866537,11846302,11809897,11705870,11601988,11286553,10667800,9351835,9110174,8942627,8932375,8619474,8086453,7961715,1722334,1719477,1627644,1383925,1380694,1380454,1371347,1284593
GO: molecular function|3'-5' exonuclease activity|NR|GO:0008408|GOA|na
GO: molecular function|DNA binding|TAS|GO:0003677|GOA|7961715
GO: molecular function|DNA-(apurinic or apyrimidinic site) lyase activity|TAS|GO:0003906|GOA|1380454
GO: biological process|base-excision repair|NR|GO:0006284|GOA|na
GO: molecular function|endodeoxyribonuclease activity|TAS|GO:0004520|GOA|1722334
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: cellular component|nucleus|TAS|GO:0005634|GOA|1722334
GO: molecular function|transcription coactivator activity|TAS|GO:0003713|GOA|1380454
GO: molecular function|transcription corepressor activity|TAS|GO:0003714|GOA|7961715
GO: biological process|transcription from Pol II promoter|TAS|GO:0006366|GOA|1380454
GO: molecular function|uracil DNA N-glycosylase activity|TAS|GO:0004844|GOA|10805771
>>329
LOCUSID: 329
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001166|41349435|na
NP: NP_001157|4502141
CDD: smart00114: Caspase recruitment domain|103|204|na|8.260830e+01
CDD: cd00022: Baculoviral inhibition of apoptosis protein repeat domain|17763|240|na|9.649800e+01
CDD: cd00162: RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc|14831|86|na|3.737120e+01
PRODUCT: baculoviral IAP repeat-containing protein 2
ASSEMBLY: BC028578,BX647978
CONTIG: NT_033899.6|37540935|na|5761818|5793253|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001166|41349435|na
XP: NP_001157|4502141|na
ACCNUM: BC016174|16740584|na|na|na
TYPE: m
PROT: AAH16174|16740585|1
ACCNUM: BC028578|22382083|na|na|na
TYPE: m
PROT: AAH28578|22382084|1
ACCNUM: BX647978|34367137|na|na|na
TYPE: m
ACCNUM: L49431|1160972|na|na|na
TYPE: m
PROT: AAC41942|1160973|1
ACCNUM: U37547|1145292|na|na|na
TYPE: m
PROT: AAC50508|1145293|1
ACCNUM: U45879|1184317|na|na|na
TYPE: m
PROT: AAC50372|1184318|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13490|2497238|0
OFFICIAL_SYMBOL: BIRC2
OFFICIAL_GENE_NAME: baculoviral IAP repeat-containing 2
ALIAS_SYMBOL: API1
ALIAS_SYMBOL: MIHB
ALIAS_SYMBOL: HIAP2
ALIAS_SYMBOL: RNF48
ALIAS_SYMBOL: cIAP1
ALIAS_SYMBOL: Hiap-2
PREFERRED_PRODUCT: baculoviral IAP repeat-containing protein 2
SUMMARY: Summary: The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals.
CHR: 11
STS: RH11632|11|4102|na|seq_map|epcr
STS: WI-18122|11|13132|na|seq_map|epcr
STS: A002E11|11|30555|na|seq_map|epcr
STS: D11S4286|11|52606|D11S4286|seq_map|epcr
STS: RH98380|-|87905|na|na|epcr
STS: SHGC-84924|-|104955|na|na|epcr
STS: PMC166414P1|-|271590|na|na|epcr
COMP: 900|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A329[id]+AND+gene[obj_type]&QSTR=birc2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: apoptosis inhibitor 1
ALIAS_PROT: NFR2-TRAF signalling complex protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=289107
UNIGENE: Hs.289107
OMIM: 601712
MAP: 11q22|RefSeq|C|
MAPLINK: default_human_gene|BIRC2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=329
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=329[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9848645
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001166
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001166
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+329
PMID: 14960583,14960576,12888921,12851723,12761501,12651874,12603340,12571250,12525502,12477932,12388702,12243753,12218061,12209092,12208731,9892732,8938457,8643514,8552191,8548810
GO: biological process|anti-apoptosis|IEA|GO:0006916|GOA|na
GO: biological process|cell surface receptor linked signal transduction|TAS|GO:0007166|GOA|8548810
GO: biological process|positive regulation of I-kappaB kinase/NF-kappaB cascade|IEP|GO:0043123|GOA|12761501
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
GO: biological process|protein ubiquitination|IEA|GO:0016567|GOA|na
GO: biological process|regulation of apoptosis|IEA|GO:0042981|GOA|na
GO: molecular function|signal transducer activity|IEP|GO:0004871|GOA|12761501
GO: cellular component|ubiquitin ligase complex|IEA|GO:0000151|GOA|na
GO: molecular function|ubiquitin-protein ligase activity|IEA|GO:0004842|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>330
LOCUSID: 330
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001165|33946283|na
NP: NP_001156|4502139
CDD: smart00114: Caspase recruitment domain|103|233|na|9.377910e+01
CDD: cd00022: Baculoviral inhibition of apoptosis protein repeat domain|17763|249|na|9.996480e+01
CDD: cd00162: RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc|14831|88|na|3.814160e+01
PRODUCT: baculoviral IAP repeat-containing protein 3
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.
ASSEMBLY: AF070674,BQ718651
NM: NM_182962|33946284|na
NP: NP_892007|33946285
CDD: smart00114: Caspase recruitment domain|103|233|na|9.377910e+01
CDD: cd00022: Baculoviral inhibition of apoptosis protein repeat domain|17763|249|na|9.996480e+01
CDD: cd00162: RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc|14831|88|na|3.814160e+01
PRODUCT: baculoviral IAP repeat-containing protein 3
TRANSVAR: Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
ASSEMBLY: AF070674,BQ718651,L49432
CONTIG: NT_033899.6|37540935|na|5732046|5752317|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001165|33946283|na
XP: NP_001156|4502139|na
EVID: supported by alignment with mRNA
XM: NM_182962|33946284|na
XP: NP_892007|33946285|na
ACCNUM: AF178945|9957444|na|na|na
TYPE: g
PROT: AAG09369|9957445|1
ACCNUM: AF070674|3978243|na|na|na
TYPE: m
PROT: AAC83232|3978244|1
ACCNUM: BC027485|34190724|na|na|na
TYPE: m
ACCNUM: BC037420|22766815|na|na|na
TYPE: m
PROT: AAH37420|22766816|1
ACCNUM: BQ718651|21857548|na|na|na
TYPE: m
ACCNUM: L49432|1160974|na|na|na
TYPE: m
PROT: AAC41943|1160975|1
ACCNUM: U37546|1145290|na|na|na
TYPE: m
PROT: AAC50507|1145291|1
ACCNUM: U45878|1184315|na|na|na
TYPE: m
PROT: AAC50371|1184316|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13489|2497236|0
OFFICIAL_SYMBOL: BIRC3
OFFICIAL_GENE_NAME: baculoviral IAP repeat-containing 3
ALIAS_SYMBOL: AIP1
ALIAS_SYMBOL: API2
ALIAS_SYMBOL: MIHC
ALIAS_SYMBOL: CIAP2
ALIAS_SYMBOL: HAIP1
ALIAS_SYMBOL: HIAP1
ALIAS_SYMBOL: MALT2
ALIAS_SYMBOL: RNF49
PREFERRED_PRODUCT: baculoviral IAP repeat-containing protein 3
SUMMARY: Summary: The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. The amino acid sequence predicts three baculovirus IAP repeat domains and a ring finger domain. Transcript variants encoding the same isoform have been identified.
CHR: 11
STS: RH79205|11|39572|na|seq_map|epcr
STS: A007H38|11|56564|na|seq_map|epcr
STS: G43312|11|94933|na|seq_map|epcr
STS: G60088|11|137217|na|seq_map|epcr
STS: PMC166414P2|-|271591|na|na|epcr
COMP: 899|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A330[id]+AND+gene[obj_type]&QSTR=birc3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: apoptosis inhibitor 2
ALIAS_PROT: mammalian IAP homolog C
ALIAS_PROT: inhibitor of apoptosis protein 1
ALIAS_PROT: TNFR2-TRAF signaling complex protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=127799
UNIGENE: Hs.127799
OMIM: 601721
MAP: 11q22|RefSeq|C|
MAPLINK: default_human_gene|BIRC3
REL2: 155871|NP_057853|Tat, p14|upregulates|NP_001156|baculoviral IAP repeat-containing protein 3|Microarray analysis indicates HIV-1 Tat upregulates the expression of many proteins, including MIHC, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection|12539042
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=330
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=330[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9848647
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001165
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001165
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+330
PMID: 14960576,14562112,14527959,12926068,12815069,12651874,12651604,12539042,12525502,12477932,12393423,12243753,12161039,12082024,11960389,10610122,10233894,9892732,8938457,8643514,8552191,8548810
GO: biological process|anti-apoptosis|TAS|GO:0006916|GOA|8552191
GO: biological process|cell surface receptor linked signal transduction|TAS|GO:0007166|GOA|8548810
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
GO: molecular function|protein binding|NAS|GO:0005515|GOA|na
GO: biological process|protein ubiquitination|IEA|GO:0016567|GOA|na
GO: biological process|regulation of apoptosis|IEA|GO:0042981|GOA|na
GO: cellular component|ubiquitin ligase complex|IEA|GO:0000151|GOA|na
GO: molecular function|ubiquitin-protein ligase activity|IEA|GO:0004842|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>331
LOCUSID: 331
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001167|32528298|na
NP: NP_001158|32528299
CDD: cd00022: Baculoviral inhibition of apoptosis protein repeat domain|17763|233|na|9.380160e+01
PRODUCT: baculoviral IAP repeat-containing protein 4
ASSEMBLY: AL121601,BQ423165,U45880
CONTIG: NT_077819.3|37546537|na|7205411|7259185|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_001167|32528298|na
XP: NP_001158|32528299|na
ACCNUM: AL121601|7159760|na|na|na
TYPE: g
PROT: CAB95312|8744934|1
ACCNUM: BC030771|21315053|na|na|na
TYPE: m
ACCNUM: BC032729|21619763|na|na|na
TYPE: m
PROT: AAH32729|21619764|1
ACCNUM: BQ423165|21118480|na|na|na
TYPE: m
ACCNUM: U32974|1016687|na|na|na
TYPE: m
PROT: AAC50518|1016688|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P98170|12643387|0
OFFICIAL_SYMBOL: BIRC4
OFFICIAL_GENE_NAME: baculoviral IAP repeat-containing 4
ALIAS_SYMBOL: API3
ALIAS_SYMBOL: ILP1
ALIAS_SYMBOL: MIHA
ALIAS_SYMBOL: XIAP
PREFERRED_PRODUCT: baculoviral IAP repeat-containing protein 4
SUMMARY: Summary: The protein encoded by this gene is a member of a family of proteins which inhibit apoptosis through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2. Similar to API1, BIRC4 inhibits apoptosis induced by menadione, a potent inducer of free radicals, and ICE. BIRC4 also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7.
CHR: X
STS: G20782|X|20072|na|seq_map|epcr
STS: A006G12|X|20073|na|seq_map|epcr
STS: D11S2560|-|37928|D11S2560|na|epcr
STS: SHGC-58836|X|94466|na|seq_map|epcr
STS: PMC140676P1|-|270959|na|na|epcr
STS: PMC166414P3|-|271592|na|na|epcr
STS: PMC310799P3|-|272740|na|na|epcr
STS: ECD04326|-|285403|na|na|epcr
STS: ECD11700|-|292736|na|na|epcr
STS: ECD12514|-|293547|na|na|epcr
COMP: 901|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A331[id]+AND+gene[obj_type]&QSTR=birc4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: apoptosis inhibitor 3
ALIAS_PROT: X-linked inhibitor of apoptosis
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=356076
UNIGENE: Hs.356076
OMIM: 300079
MAP: Xq25|RefSeq|C|
MAPLINK: default_human_gene|BIRC4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=331
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=331[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9848649
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001167
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001167
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+331
PMID: 15044484,14759516,14645242,14570909,14523016,14512414,12970762,12855663,12851723,12835328,12747801,12725530,12691733,12624662,12592339,12482981,12477932,12388702,12243753,12218061,12121983,12121969,12048196,11972398,11927604,11597143,9230442,9205126,8654366,8552191
GO: molecular function|actin binding|IEA|GO:0003779|GOA|na
GO: cellular component|actin cytoskeleton|IEA|GO:0015629|GOA|na
GO: biological process|anti-apoptosis|TAS|GO:0006916|GOA|8654366
GO: biological process|apoptosis|IEA|GO:0006915|GOA|na
GO: molecular function|caspase inhibitor activity|IDA|GO:0043027|GOA|9230442
GO: molecular function|cysteine protease inhibitor activity|IEA|GO:0004869|GOA|na
GO: biological process|cytoskeleton organization and biogenesis|IEA|GO:0007010|GOA|na
GO: cellular component|cytosol|TAS|GO:0005829|GOA|8654366
GO: biological process|protein ubiquitination|IEA|GO:0016567|GOA|na
GO: cellular component|ubiquitin ligase complex|IEA|GO:0000151|GOA|na
GO: molecular function|ubiquitin-protein ligase activity|IEA|GO:0004842|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>332
LOCUSID: 332
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001168|4502144|na
NP: NP_001159|4502145
CDD: KOG1101: Apoptosis inhibitor IAP1 and related BIR domain proteins [Cell cycle control, cell division, chromosome partitioning, General function prediction only]|18892|300|na|1.197650e+02
PRODUCT: baculoviral IAP repeat-containing protein 5
ASSEMBLY: U75285
CONTIG: NT_010641.14|37542591|na|10102510|10112938|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_001168|4502144|na
XP: NP_001159|4502145|na
ACCNUM: U75285|2315862|na|na|na
TYPE: g
PROT: AAC51660|2315863|1
ACCNUM: AB028869|7416052|na|na|na
TYPE: m
PROT: BAA93676|7416053|1
ACCNUM: AB154416|42662099|na|na|na
TYPE: m
PROT: BAD11155|42662100|1
ACCNUM: AF077350|4959078|na|na|na
TYPE: m
PROT: AAD34226|4959079|1
ACCNUM: BC000784|34783885|na|na|na
TYPE: m
ACCNUM: BC001735|14706064|na|na|na
TYPE: m
ACCNUM: BC007606|14043232|na|na|na
TYPE: m
PROT: AAH07606|14043233|1
ACCNUM: BC008718|38196997|na|na|na
TYPE: m
PROT: AAH08718|14250534|1
ACCNUM: BC012164|15082502|na|na|na
TYPE: m
PROT: AAH12164|15082503|1
ACCNUM: BC034148|21707886|na|na|na
TYPE: m
PROT: AAH34148|21707887|1
ACCNUM: BC065497|41389060|na|na|na
TYPE: m
PROT: AAH65497|41389061|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O15392|6647543|0
OFFICIAL_SYMBOL: BIRC5
OFFICIAL_GENE_NAME: baculoviral IAP repeat-containing 5 (survivin)
ALIAS_SYMBOL: API4
ALIAS_SYMBOL: EPR-1
PREFERRED_PRODUCT: baculoviral IAP repeat-containing protein 5
SUMMARY: Summary: The protein encoded by this gene is an apoptosis inhibitor that is expressed during the G2/M phase of the cell cycle. BIRC5 associates with the microtubules of the mitotic spindle and any disruption results in the loss of apoptosis activity.
CHR: 17
STS: STS-L26245|15|19812|na|na|epcr
COMP: 31019|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A332[id]+AND+gene[obj_type]&QSTR=birc5&cmd=focus&fill=10|Mouse
ALIAS_PROT: survivin
ALIAS_PROT: apoptosis inhibitor 4
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1578
UNIGENE: Hs.1578
OMIM: 603352
MAP: 17q25|RefSeq|C|
MAPLINK: default_human_gene|BIRC5
REL2: 155807|NP_057852|Vpr, p15|upregulates|NP_001159|baculoviral IAP repeat-containing protein 5|HIV-1 Vpr upregulates survivin expression by transactivating the survivin promoter|12510154
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=332
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=332[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9848654
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001168
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001168
PMID: 15126108,15077160,15004200,14988404,14741722,14734714,14676801,14614132,14610074,14597622,14597555,14583779,14581472,14527689,14523021,12963850,12926071,12885482,12883703,12854136,12833149,12805209,12794243,12773388,12709681,12678716,12654446,12643601,12609713,12569609,12556969,12517802,12510154,12477932,12419797,12393476,12388702,12374680,12363043,12235242,12174930,12168867,12143224,12133447,12119561,12115583,12085263,12073047,11925104,11888845,11877677,11875736,11861764,11844831,11821157,11773702,11728454,11712083,11084331,9859993,9556606,9256286,8106347,7947793
GO: biological process|G2/M transition of mitotic cell cycle|IDA|GO:0000086|GOA|9859993
GO: biological process|anti-apoptosis|IDA|GO:0006916|GOA|9859993
GO: biological process|apoptosis|IEA|GO:0006915|GOA|na
GO: molecular function|caspase inhibitor activity|IMP|GO:0043027|GOA|9859993
GO: molecular function|cysteine protease inhibitor activity|IEA|GO:0004869|GOA|na
GO: cellular component|intracellular|IEA|GO:0005622|GOA|na
GO: molecular function|microtubule binding|IDA|GO:0008017|GOA|9859993
GO: molecular function|protease inhibitor activity|NAS|GO:0030414|GOA|na
GO: cellular component|spindle microtubule|TAS|GO:0005876|GOA|9859993
GO: molecular function|zinc ion binding|NAS|GO:0008270|GOA|na
>>333
LOCUSID: 333
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_005166|21361259|na
NP: NP_005157|4885065
CDD: smart00006: amyloid A4|22659|688|na|2.691540e+02
CDD: KOG3540: Beta amyloid precursor protein [General function prediction only]|21323|1665|na|6.455600e+02
PRODUCT: amyloid beta (A4) precursor-like protein 1
ASSEMBLY: BC012889
CONTIG: NT_011109.15|29800594|na|8627688|8638909|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_005166|21361259|na
XP: NP_005157|4885065|na
ACCNUM: AD000864|1905915|na|na|na
TYPE: g
PROT: AAB50173|1905916|1
ACCNUM: AK092376|21750954|na|na|na
TYPE: m
ACCNUM: BC012889|15277601|na|na|na
TYPE: m
PROT: AAH12889|15277602|1
ACCNUM: BC013850|15426619|na|na|na
TYPE: m
ACCNUM: BC032983|21426926|na|na|na
TYPE: m
ACCNUM: U48437|1709300|na|na|na
TYPE: m
PROT: AAB96331|1709301|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P51693|28558769|0
OFFICIAL_SYMBOL: APLP1
OFFICIAL_GENE_NAME: amyloid beta (A4) precursor-like protein 1
ALIAS_SYMBOL: APLP
PREFERRED_PRODUCT: amyloid beta (A4) precursor-like protein 1
CHR: 19
STS: RH66352|19|6834|na|seq_map|epcr
STS: D19S237E|4;|44617|D19S237E|na|epcr
STS: HSC0VF102|19|53563|na|seq_map|epcr
STS: SHGC-4198|19|62626|na|seq_map|epcr
COMP: 31295|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A333[id]+AND+gene[obj_type]&QSTR=aplp1&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74565
UNIGENE: Hs.74565
OMIM: 104775
MAP: 19q13.1|HUGO|C|
MAPLINK: default_human_gene|APLP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=333
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=333[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132613
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005166
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005166
DB_DESCR: KEGG pathway: Prion disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05060+333
PMID: 14970212,14702039,14699153,14597230,12477932,12228233,9521588,9428684,8432545
GO: biological process|apoptosis|IEA|GO:0006915|GOA|na
GO: cellular component|basement membrane|TAS|GO:0005604|GOA|9521588
GO: biological process|cell adhesion|IEA|GO:0007155|GOA|na
GO: biological process|cell death|IEA|GO:0008219|GOA|na
GO: cellular component|coated pit|IEA|GO:0005905|GOA|na
GO: biological process|endocytosis|IEA|GO:0006897|GOA|na
GO: molecular function|heparin binding|IEA|GO:0008201|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|neurogenesis|TAS|GO:0007399|GOA|9521588
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
>>334
LOCUSID: 334
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001642|4502146|na
NP: NP_001633|4502147
CDD: smart00006: amyloid A4|22659|732|na|2.861020e+02
CDD: cd00109: BPTI/Kunitz family of serine protease inhibitors|5332|211|na|8.532660e+01
CDD: KOG3540: Beta amyloid precursor protein [General function prediction only]|21323|1208|na|4.695230e+02
PRODUCT: amyloid beta (A4) precursor-like protein 2
ASSEMBLY: S60099
CONTIG: NT_033899.6|37540935|na|33483588|33558487|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001642|4502146|na
XP: NP_001633|4502147|na
ACCNUM: AF168956|5702387|na|na|na
TYPE: m
PROT: AAD47291|5702388|1
ACCNUM: AK056883|16552404|na|na|na
TYPE: m
ACCNUM: AK128162|34535399|na|na|na
TYPE: m
ACCNUM: BC000373|33875362|na|na|na
TYPE: m
PROT: AAH00373|12653211|1
ACCNUM: BC004371|13325115|na|na|na
TYPE: m
PROT: AAH04371|13325116|1
ACCNUM: L09209|291855|na|na|na
TYPE: m
PROT: AAA35526|291856|1
ACCNUM: L19597|306467|na|na|na
TYPE: m
PROT: AAA35601|553204|1
ACCNUM: L23113|349467|na|na|na
TYPE: m
PROT: AAA36032|349468|1
ACCNUM: L23114|349469|na|na|na
TYPE: m
PROT: AAA36130|349470|1
ACCNUM: L27631|450391|na|na|na
TYPE: m
PROT: AAC41701|450392|1
ACCNUM: S60099|300168|na|na|na
TYPE: m
PROT: AAC60589|300169|1
ACCNUM: Z22572|394763|na|na|na
TYPE: m
PROT: CAA80295|394764|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q06481|1703344|0
OFFICIAL_SYMBOL: APLP2
OFFICIAL_GENE_NAME: amyloid beta (A4) precursor-like protein 2
ALIAS_SYMBOL: APPH
ALIAS_SYMBOL: APPL2
ALIAS_SYMBOL: CDEBP
PREFERRED_PRODUCT: amyloid beta (A4) precursor-like protein 2
CHR: 11
STS: RH11795|11|8355|na|seq_map|epcr
STS: D11S3981|11|12408|D11S3981|seq_map|epcr
STS: SHGC-30035|11|63592|na|seq_map|epcr
STS: RH27778|11|87874|na|seq_map|epcr
COMP: 20396|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A334[id]+AND+gene[obj_type]&QSTR=aplp2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: amyloid precursor protein homolog HSD-2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279518
UNIGENE: Hs.279518
OMIM: 104776
MAP: 11q23-q25|HUGO|C|11q24|RefSeq|C|
MAPLINK: default_human_gene|APLP2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=334
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=334[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:139159
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001642
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001642
PMID: 14970212,14702039,14699153,14597230,12595709,12477932,12228233,10702673,8485127,8220435,8020984,7702756
GO: molecular function|DNA binding|NAS|GO:0003677|GOA|7702756
GO: biological process|G-protein coupled receptor protein signaling pathway|NAS|GO:0007186|GOA|8220435
GO: molecular function|binding|IEA|GO:0005488|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|8485127
GO: cellular component|integral to membrane|NAS|GO:0016021|GOA|8485127
GO: cellular component|nucleus|IDA|GO:0005634|GOA|7702756
GO: molecular function|serine-type endopeptidase inhibitor activity|IEA|GO:0004867|GOA|na
>>335
LOCUSID: 335
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000039|4557320|na
NP: NP_000030|4557321
CDD: pfam01442: Apolipoprotein A1/A4/E family|1983|604|na|2.366660e+02
PRODUCT: apolipoprotein A-I precursor
ASSEMBLY: X02162
CONTIG: NT_033899.6|37540935|na|20250256|20252125|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_000039|4557320|na
XP: NP_000030|4557321|na
ACCNUM: J00098|178765|na|na|na
TYPE: g
PROT: AAB59514|178768|1
ACCNUM: X01038|28769|na|na|na
TYPE: g
PROT: CAA25519|296635|1
ACCNUM: X07496|28774|na|na|na
TYPE: g
PROT: CAA30377|296729|1
ACCNUM: BC005380|13529241|na|na|na
TYPE: m
PROT: AAH05380|13529242|1
ACCNUM: M11791|178776|na|na|na
TYPE: m
PROT: AAA35545|178777|1
ACCNUM: M27875|178772|na|na|na
TYPE: m
PROT: AAA62829|178773|1
ACCNUM: M29068|178774|na|na|na
TYPE: m
PROT: AAA51747|178775|1
ACCNUM: X00566|28765|na|na|na
TYPE: m
PROT: CAA25232|732753|1
ACCNUM: X02162|28771|na|na|na
TYPE: m
PROT: CAA26097|28772|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02647|113992|0
ACCNUM: A14829|512409|na|na|na
TYPE: r
PROT: CAA01198|512410|1
OFFICIAL_SYMBOL: APOA1
OFFICIAL_GENE_NAME: apolipoprotein A-I
PREFERRED_PRODUCT: apolipoprotein A-I precursor
SUMMARY: Summary:  APOA1 promotes cholesterol efflux from tissues to the liver for excretion. Apolipoprotein A-I is the major protein component of  high density lipoprotein (HDL) in the plasma. Synthesized in the liver and small intestine, it consists of two identical chains of 77 amino acids; an 18-amino acid signal peptide is removed   co-translationally and a 6-amino acid propeptide is cleaved  post-translationally.  Variation in the latter step, in addition to modifications leading to so-called isoforms, is responsible for some of the polymorphism observed.  APOA1 is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters.  The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes.   The A-I and A-IV genes are transcribed from the same strand, while the C-III gene is transcribed convergently in relation to A-I.   Defects in the apolipoprotein A-1 gene are associated with HDL deficiency and Tangier disease.
CHR: 11
STS: RH11465|11|50642|na|seq_map|epcr
STS: RH1581|11|88085|na|seq_map|epcr
COMP: 23|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A335[id]+AND+gene[obj_type]&QSTR=apoa1&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=93194
UNIGENE: Hs.93194
OMIM: 107680
MAP: 11q23-q24|RefSeq|C|
MAPLINK: default_human_gene|APOA1
PHENOTYPE: Amyloidosis, 3 or more types
PHENOTYPE_ID: 107680
PHENOTYPE: ApoA-I and apoC-III deficiency, combined
PHENOTYPE_ID: 107680
PHENOTYPE: Corneal clouding, autosomal recessive
PHENOTYPE_ID: 107680
PHENOTYPE: Hypertriglyceridemia, one form
PHENOTYPE_ID: 107680
PHENOTYPE: Hypoalphalipoproteinemia
PHENOTYPE_ID: 107680
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=335
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=335[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119684
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000039
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000039
DB_DESCR: PharmGKB: PA49
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA49
PMID: 15177130,15051721,14988232,14967052,14741338,14734645,14718574,14701824,14666619,14665416,14660648,14609337,14567398,12952980,12928428,12818417,12801612,12798568,12782148,12754494,12742997,12724319,12722515,12709430,12692252,12690114,12642784,12608057,12576517,12573451,12531890,12511593,12477932,12462973,12458630,12421824,12369845,12270762,12177172,12173940,12167653,12048121,12030900,12011770,12000358,11929608,11916081,11907138,11903341,11866037,11805090,11773045,11744719,10858436,6439535,6406984,6405383,6404278,6402711,6328445,6308458,6304641,6294659,6207999,6198645,3931073,3129297,2995392,2673706,2506176,1898657
GO: biological process|cholesterol metabolism|TAS|GO:0008203|GOA|10858436
GO: biological process|circulation|TAS|GO:0008015|GOA|2506176,6402711
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: molecular function|high-density lipoprotein binding|TAS|GO:0008035|GOA|6402711
GO: molecular function|lipid binding|IEA|GO:0008289|GOA|na
GO: biological process|lipid transport|IEA|GO:0006869|GOA|na
GO: molecular function|lipid transporter activity|NR|GO:0005319|GOA|na
GO: biological process|lipoprotein metabolism|IEA|GO:0042157|GOA|na
>>336
LOCUSID: 336
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001643|4502148|na
NP: NP_001634|4502149
CDD: pfam04711: Apolipoprotein A-II (ApoA-II)|16008|292|na|1.167060e+02
PRODUCT: apolipoprotein A-II precursor
ASSEMBLY: X02619
CONTIG: NT_079484.1|37549803|na|7641915|7643250|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_001643|4502148|na
XP: NP_001634|4502149|na
ACCNUM: X02619|28751|na|na|na
TYPE: g
PROT: CAA26474|296633|1
ACCNUM: X02905|28757|na|na|na
TYPE: g
PROT: CAA26665|296634|1
ACCNUM: X04898|28743|na|na|na
TYPE: g
PROT: CAA28583|671882|1
ACCNUM: BC005282|13528980|na|na|na
TYPE: m
PROT: AAH05282|13528981|1
ACCNUM: BT006786|30582410|na|na|na
TYPE: m
PROT: AAP35432|30582411|1
ACCNUM: M29882|178423|na|na|na
TYPE: m
PROT: AAA51701|178424|1
ACCNUM: X00955|28747|na|na|na
TYPE: m
PROT: CAA25467|28748|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02652|114000|0
OFFICIAL_SYMBOL: APOA2
OFFICIAL_GENE_NAME: apolipoprotein A-II
PREFERRED_PRODUCT: apolipoprotein A-II precursor
SUMMARY: Summary: Apolipoprotein (Apo-) A-II is the second most abundant protein of the high density lipoprotein particles. The apo-A-II gene consists of 4 exons and 3 introns.  The four exons encode the 5' untranslated region, pre-peptide, a short N-terminal domain and a C-terminal domain composed of a variable number of lipid-binding amphipathic helices.  Familial apo-A-II deficiency may result from a splice-junction alteration which blocks splicing of intron 3 from the primary transcript and result the formation of a non-functional mRNA.
CHR: 1
STS: SHGC-2468|1|40340|na|seq_map|epcr
STS: SHGC-17|1|88066|na|seq_map|epcr
STS: GDB:186841|-|155510|na|na|epcr
COMP: 1242|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A336[id]+AND+gene[obj_type]&QSTR=apoa2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=237658
UNIGENE: Hs.237658
OMIM: 107670
MAP: 1q21-q23|HUGO|C|
MAPLINK: default_human_gene|APOA2
PHENOTYPE: Apolipoprotein A-II deficiency
PHENOTYPE_ID: 107670
PHENOTYPE: Hypercholesterolemia, familial, modification of
PHENOTYPE_ID: 143890
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=336
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=336[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119685
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001643
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001643
PMID: 14988251,14967812,14718574,12959642,12738753,12690114,12642785,12576517,12522687,12477932,12458630,12269810,12136402,12032642,11971944,11591715,11551871,7918467,6433912,6428397,6328445,6090207,6089788,4338591,3935800,3136074,3088392,2995928,2989800,2415515,2107739
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: biological process|glucose metabolism|TAS|GO:0006006|GOA|12642785
GO: molecular function|lipid binding|IEA|GO:0008289|GOA|na
GO: biological process|lipid transport|NAS|GO:0006869|GOA|na
GO: molecular function|lipid transporter activity|NAS|GO:0005319|GOA|na
GO: biological process|negative regulation of lipid catabolism|NAS|GO:0050995|GOA|14967812
GO: biological process|negative regulation of lipoprotein metabolism|NAS|GO:0050748|GOA|11551871
GO: biological process|neutrophil activation|NAS|GO:0042119|GOA|12458630
GO: biological process|positive regulation of interleukin-8 biosynthesis|IDA|GO:0045416|GOA|11591715
GO: molecular function|protein heterodimerization activity|IPI|GO:0046982|GOA|7918467
GO: molecular function|protein homodimerization activity|NAS|GO:0042803|GOA|na
GO: biological process|regulation of cytokine production|NAS|GO:0001817|GOA|12458630
GO: biological process|response to glucose stimulus|NAS|GO:0009749|GOA|14988251
>>337
LOCUSID: 337
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000482|5174773|na
NP: NP_000473|4502151
CDD: pfam01442: Apolipoprotein A1/A4/E family|1983|162|na|6.640820e+01
PRODUCT: apolipoprotein A-IV precursor
ASSEMBLY: J02758,X13629
CONTIG: NT_033899.6|37540935|na|20235205|20237807|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_000482|5174773|na
XP: NP_000473|4502151|na
ACCNUM: J02758|178756|na|na|na
TYPE: g
PROT: AAA96731|178757|1
ACCNUM: M14642|178760|na|na|na
TYPE: g
PROT: AAA51745|178761|1
ACCNUM: BC074764|50960037|na|na|na
TYPE: m
PROT: AAH74764|50960038|1
ACCNUM: M10373|563319|na|na|na
TYPE: m
PROT: AAB59516|563320|1
ACCNUM: M13654|178758|na|na|na
TYPE: m
PROT: AAA51744|178759|1
ACCNUM: M14566|178778|na|na|na
TYPE: m
PROT: AAA51748|178779|1
ACCNUM: X13629|28761|na|na|na
TYPE: m
PROT: CAA31955|28762|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P06727|114006|0
OFFICIAL_SYMBOL: APOA4
OFFICIAL_GENE_NAME: apolipoprotein A-IV
PREFERRED_PRODUCT: apolipoprotein A-IV precursor
SUMMARY: Summary: Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon.  The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles.  Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro.
CHR: 11
STS: G44371|11|95156|na|seq_map|epcr
STS: GDB:185195|11|155434|na|seq_map|epcr
STS: ECD09182|-|290226|na|na|epcr
COMP: 410|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A337[id]+AND+gene[obj_type]&QSTR=apoa4&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1247
UNIGENE: Hs.1247
OMIM: 107690
MAP: 11q23|HUGO|C|
MAPLINK: default_human_gene|APOA4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=337
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=337[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119000
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000482
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000482
DB_DESCR: PharmGKB: PA24887
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24887
PMID: 14718574,14501969,12777472,12676816,12477932,12417525,12121350,11940599,11841825,8688083,3931073,3755616,3095836,3080432,3036793,2930771,2216752
GO: biological process|circulation|TAS|GO:0008015|GOA|8688083
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: molecular function|lipid binding|IEA|GO:0008289|GOA|na
GO: biological process|lipid metabolism|NR|GO:0006629|GOA|3080432
GO: biological process|lipid transport|TAS|GO:0006869|GOA|8688083
GO: molecular function|lipid transporter activity|TAS|GO:0005319|GOA|3080432
GO: biological process|lipoprotein metabolism|IEA|GO:0042157|GOA|na
>>338
LOCUSID: 338
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000384|4502152|na
NP: NP_000375|4502153
CDD: smart00638: Lipoprotein N-terminal Domain|22853|833|na|3.249850e+02
CDD: pfam06448: Domain of Unknown Function (DUF1081)|26561|304|na|1.211900e+02
CDD: COG0419: ATPase involved in DNA repair [DNA replication, recombination, and repair]|10293|110|na|4.657800e+01
PRODUCT: apolipoprotein B precursor
ASSEMBLY: X04506
CONTIG: NT_022184.13|37547123|na|40235|82879|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_000384|4502152|na
XP: NP_000375|4502153|na
ACCNUM: J04838|178737|na|na|na
TYPE: g
PROT: AAA53373|178739|1
PROT: AAA53374|178738|1
ACCNUM: M15053|2182277|na|na|na
TYPE: g
PROT: AAB60718|2182278|1
ACCNUM: M19828|178728|na|na|na
TYPE: g
PROT: AAB00481|178730|1
ACCNUM: J02610|178803|na|na|na
TYPE: m
PROT: AAA35549|178804|1
ACCNUM: K03175|178821|na|na|na
TYPE: m
PROT: AAA51759|178822|1
ACCNUM: M10374|178789|na|na|na
TYPE: m
PROT: AAA51750|178790|1
ACCNUM: M12413|178735|na|na|na
TYPE: m
PROT: AAA51742|178736|1
ACCNUM: M12480|178791|na|na|na
TYPE: m
PROT: AAA51751|178792|1
ACCNUM: M12681|178797|na|na|na
TYPE: m
PROT: AAA51753|178798|1
ACCNUM: M14081|178795|na|na|na
TYPE: m
PROT: AAA51752|553189|1
ACCNUM: M14162|178811|na|na|na
TYPE: m
PROT: AAB04636|178812|1
ACCNUM: M15421|178817|na|na|na
TYPE: m
PROT: AAA51758|178818|1
ACCNUM: M17367|178731|na|na|na
TYPE: m
PROT: AAA51741|178732|1
ACCNUM: M17779|178801|na|na|na
TYPE: m
PROT: AAA51755|178802|1
ACCNUM: M18471|178733|na|na|na
TYPE: m
PROT: AAA35541|178734|1
ACCNUM: M19734|178754|na|na|na
TYPE: m
PROT: AAA35544|178755|1
ACCNUM: M31030|178813|na|na|na
TYPE: m
PROT: AAA51756|178814|1
ACCNUM: M36676|178793|na|na|na
TYPE: m
PROT: AAA35548|178794|1
ACCNUM: X03045|28783|na|na|na
TYPE: m
PROT: CAA26850|929609|1
ACCNUM: X03324|28786|na|na|na
TYPE: m
PROT: CAA27043|1340151|1
ACCNUM: X03325|28788|na|na|na
TYPE: m
PROT: CAA27044|28789|1
ACCNUM: X03326|28790|na|na|na
TYPE: m
PROT: CAA27045|28791|1
ACCNUM: X04506|34330|na|na|na
TYPE: m
PROT: CAA28191|34331|1
ACCNUM: X04714|28779|na|na|na
TYPE: m
PROT: CAA28420|28780|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P04114|114014|0
OFFICIAL_SYMBOL: APOB
OFFICIAL_GENE_NAME: apolipoprotein B (including Ag(x) antigen)
ALIAS_SYMBOL: FLDB
PREFERRED_PRODUCT: apolipoprotein B precursor
SUMMARY: Summary: Apolipoprotein B (ApoB) is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL). The protein occurs in the plasma in 2 main isoforms, apoB-48 and apoB-100. The first is synthesized exclusively by the gut, the second by the liver.  The intestinal (B-48) and hepatic (B-100) forms of apoB are coded by a single gene and by a single mRNA transcript larger than 16 kb. The 2 proteins share a common amino terminal sequence. In the ApoB-100 isoform the precursor has 4,563 amino acids, and the mature apoB-100 has 4,536 amino acid residues.  Mature, circulating B-48 is homologous over its entire length (estimated to be between 2,130 and 2,144 amino acid residues) with the amino-terminal portion of B-100 and contains no sequence from the carboxyl end of B-100. From structural studies, it is thought that apoB-48 represents the amino-terminal 47% of apoB-100 and that the carboxyl terminus of apoB-48 is in the vicinity of residue 2151 of apoB-100. Apolipoprotein B-48 may be the product of an intestinal mRNA with an in-frame UAA stop codon resulting from a C-to-U change in the codon CAA encoding Gln(2153) in apoB-100 mRNA.  Since only the sequence that codes B-100 is present in genomic DNA, this presents the possibility of an  organ-specific introduction of a stop codon to an mRNA and the change from CAA to UAA of codon 2153 of the message as a unique RNA editing process.
CHR: 2
STS: RH70147|2|14246|na|seq_map|epcr
STS: RH68521|2|21794|na|seq_map|epcr
STS: SHGC-33670|2|55948|na|seq_map|epcr
STS: SHGC-34591|2|56355|na|seq_map|epcr
STS: D2S2580|2|58171|D2S2580|seq_map|epcr
STS: RH69778|2|64981|na|seq_map|epcr
STS: D2S2589|2|68980|D2S2589|na|epcr
STS: RH69077|2|69261|na|seq_map|epcr
STS: RH70400|2|72471|na|seq_map|epcr
STS: G44341|2|95128|na|seq_map|epcr
STS: GDB:177076|2|154826|na|seq_map|epcr
STS: GDB:177093|2|154830|na|seq_map|epcr
STS: GDB:177207|2|154838|na|seq_map|epcr
STS: GDB:181235|2|155203|na|seq_map|epcr
STS: GDB:182191|2|155360|na|seq_map|epcr
STS: GDB:185253|2|155441|na|seq_map|epcr
STS: GDB:185282|2|155444|na|seq_map|epcr
COMP: 328|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A338[id]+AND+gene[obj_type]&QSTR=apob&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: apoB-48
ALIAS_PROT: apoB-100
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=280226
UNIGENE: Hs.280226
OMIM: 107730
MAP: 2p24-p23|HUGO|C|
MAPLINK: default_human_gene|APOB
PHENOTYPE: Abetalipoproteinemia
PHENOTYPE_ID: 107730
PHENOTYPE: Hypercholesterolemia, due to ligand-defective apo B
PHENOTYPE_ID: 144010
PHENOTYPE: Hypobetalipoproteinemia
PHENOTYPE_ID: 107730
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=338
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=338[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119686
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000384
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000384
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=107730
PMID: 15028112,14718574,14618390,14567398,12942366,12872264,12818419,12752570,12736910,12670940,12582154,12576514,12551903,12547700,12535758,12529498,12505152,12397634,12397072,12235173,12208478,12206678,12177061,12124991,12070165,12038793,12031600,12011770,11947895,11940087,11940084,11903341,11882317,11869298,11857554,11833852,11727199,7853698,3903660,3860836,3860811,3841204,3773997,3763409,3759943,3680528,3676265,3659919,3652907,3621347,3522585,3513177,3464946,3461454,3455779,3426612,3284790,3030729,3024665,3022788,3012797,3001697,2994225,2932736,2883086,2567736,2563166,2450346
GO: biological process|cholesterol metabolism|IEA|GO:0008203|GOA|na
GO: biological process|circulation|NR|GO:0008015|GOA|3773997
GO: cellular component|endoplasmic reticulum|NR|GO:0005783|GOA|3773997
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: molecular function|heparin binding|IEA|GO:0008201|GOA|na
GO: biological process|lipid transport|IEA|GO:0006869|GOA|na
GO: molecular function|lipid transporter activity|TAS|GO:0005319|GOA|3773997
GO: cellular component|microsome|TAS|GO:0005792|GOA|7853698
GO: molecular function|receptor binding|NR|GO:0005102|GOA|3773997
GO: biological process|signal transduction|NR|GO:0007165|GOA|3773997
GO: cellular component|soluble fraction|NR|GO:0005625|GOA|na
>>339
LOCUSID: 339
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001644|5921993|na
NP: NP_001635|4502155
CDD: pfam05240: APOBEC-like C-terminal domain|17617|222|na|8.947610e+01
CDD: pfam00383: Cytidine and deoxycytidylate deaminase zinc-binding region|16713|163|na|6.691770e+01
PRODUCT: apolipoprotein B mRNA editing enzyme isoform 1
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
ASSEMBLY: SEG_AB009422S
NM: NM_005889|5921994|na
NP: NP_005880|5921995
PRODUCT: apolipoprotein B mRNA editing enzyme isoform 2
TRANSVAR: Transcript Variant: This variant (2) lacks exon 2, resulting in a frameshift compared to variant 1. It encodes isoform 2, which has the same six N-terminal aa as isoform 1, but is much shorter.
ASSEMBLY: SEG_AB009422S
CONTIG: NT_009714.16|37543832|na|560971|577476|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_001644|5921993|na
XP: NP_001635|4502155|na
EVID: supported by alignment with mRNA
XM: NM_005889|5921994|na
XP: NP_005880|5921995|na
ACCNUM: AB009426|2696114|na|na|na
TYPE: g
PROT: BAA23882|2696116|1
ACCNUM: L25877|1177797|na|na|na
TYPE: m
PROT: AAA86766|1177798|1
ACCNUM: L26234|609447|na|na|na
TYPE: m
PROT: AAA64230|604539|1
ACCNUM: U72891|4097987|na|na|na
TYPE: m
PROT: AAD00185|4097988|1
ACCNUM: U78720|4204386|na|na|na
TYPE: m
PROT: AAD10701|4204387|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P41238|1351835|0
OFFICIAL_SYMBOL: APOBEC1
OFFICIAL_GENE_NAME: apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
ALIAS_SYMBOL: BEDP
ALIAS_SYMBOL: CDAR1
PREFERRED_PRODUCT: apolipoprotein B mRNA editing enzyme isoform 1
PREFERRED_PRODUCT: apolipoprotein B mRNA editing enzyme isoform 2
SUMMARY: Summary: This gene (APOBEC1) is involved in the production of apolipoprotein B (apoB)-48 from apoB-100. It spans 18 kb and contains five exons, all of which are translated. Alternative splicing produces a variant transcript that lacks exon 2 and encodes a novel 36-amino acid peptide. The exon 2-skipped transcript accounts for approximately 50% of APOBEC1 mRNA in the adult small intestine and up to 90% of APOBEC1 mRNA in the developing gut. Exon 2-skipping may thus be a quantitatively important mechanism for regulating the expression of this gene in the gastrointestinal tract.
CHR: 12
COMP: 1243|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A339[id]+AND+gene[obj_type]&QSTR=apobec1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=560
UNIGENE: Hs.560
OMIM: 600130
MAP: 12p13.1|HUGO|C|
MAPLINK: default_human_gene|APOBEC1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=339
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=339[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371870
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001644
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001644
PMID: 14559896,12896982,12881431,12683974,11815617,11727199,9479499,9186903,8692961,8208612,8078915,7736571,7698776
GO: molecular function|RNA binding|TAS|GO:0003723|GOA|7736571
GO: molecular function|cytidine deaminase activity|TAS|GO:0004126|GOA|7736571
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|IEA|GO:0016814|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|8078915
GO: biological process|mRNA editing|TAS|GO:0006381|GOA|8078915
GO: biological process|mRNA processing|IEA|GO:0006397|GOA|na
GO: molecular function|zinc ion binding|TAS|GO:0008270|GOA|7736571
>>340
LOCUSID: 340
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: APOBER1
OFFICIAL_GENE_NAME: apolipoprotein B mRNA editing enzyme regulator
ALIAS_PROT: apolipoprotein B mRNA editing enzyme, regulatory polypeptide 2
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371874
>>341
LOCUSID: 341
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001645|5174774|na
NP: NP_001636|4502157
CDD: pfam04691: Apolipoprotein C-I (ApoC-1)|15988|186|na|7.590350e+01
PRODUCT: apolipoprotein C-I precursor
ASSEMBLY: M20843,X00570
CONTIG: NT_011109.15|29800594|na|17686176|17690817|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_001645|5174774|na
XP: NP_001636|4502157|na
ACCNUM: AF050154|4105701|na|na|na
TYPE: g
PROT: AAD02506|4105705|1
ACCNUM: AY422954|37499722|na|na|na
TYPE: g
PROT: AAQ91813|37499723|1
ACCNUM: M20843|178837|na|na|na
TYPE: g
PROT: AAA51763|553191|1
ACCNUM: M20902|178830|na|na|na
TYPE: g
PROT: AAA88018|178831|1
ACCNUM: BC009698|34783257|na|na|na
TYPE: m
PROT: AAH09698|16307219|1
ACCNUM: BC055093|32822889|na|na|na
TYPE: m
PROT: AAH55093|32822890|1
ACCNUM: BT007142|30583122|na|na|na
TYPE: m
PROT: AAP35806|30583123|1
ACCNUM: M27359|178833|na|na|na
TYPE: m
PROT: AAA51762|178834|1
ACCNUM: X00570|28802|na|na|na
TYPE: m
PROT: CAA25235|757914|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02654|114016|0
OFFICIAL_SYMBOL: APOC1
OFFICIAL_GENE_NAME: apolipoprotein C-I
PREFERRED_PRODUCT: apolipoprotein C-I precursor
SUMMARY: Summary: Apolipoprotein (apo) C-I gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A copy of the apo C-I gene, apo C-I', is located 4 kb downstream in the same orientation, on the same chromosome.  However, apo C-I' gene has no detectable mRNA product in any tissue, suggesting that it may be a pseudogene. The apoC-I gene is 4653 bases long and the apo C-I' is 4387 base pairs, and each contains four exons and 3 introns.  The differences between the two genes includes a change of the codon for Gln-2 of the signal peptide region of apo C-I', which introduces a translation stop signal. A major difference between the two sequences is also found in the second and third introns of the apoC-I' gene, which contains 7.5 instead of 9 copies of Alu family sequences.
CHR: 19
COMP: 1244|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A341[id]+AND+gene[obj_type]&QSTR=apoc1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=268571
UNIGENE: Hs.268571
OMIM: 107710
MAP: 19q13.2|HUGO|C|
MAPLINK: default_human_gene|APOC1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=341
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=341[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119687
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001645
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001645
PMID: 12736801,12705839,12477932,12044170,12032151,11825674,10520737,8432525,6328444,3017837,3013172,2985493,2897845,2835369
GO: cellular component|extracellular|IEA|GO:0005576|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|2897845
GO: biological process|lipid transport|IEA|GO:0006869|GOA|na
GO: molecular function|lipid transporter activity|IEA|GO:0005319|GOA|na
GO: biological process|lipoprotein metabolism|IEA|GO:0042157|GOA|na
>>342
LOCUSID: 342
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
ACCNUM: M20903|178832|na|na|na
TYPE: g
OFFICIAL_SYMBOL: APOC1P1
OFFICIAL_GENE_NAME: apolipoprotein C-I pseudogene 1
CHR: 19
MAP: 19q13.2|HUGO|C|
MAPLINK: default_human_cyto|APOC1P1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119688
PMID: 2835369
>>343
LOCUSID: 343
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001169|45446751|na
NP: NP_001160|45446752
CDD: KOG0223: Aquaporin (major intrinsic protein family) [Carbohydrate transport and metabolism]|18019|405|na|1.599850e+02
PRODUCT: aquaporin 8
ASSEMBLY: AB013456,BC040630,BG221545
CONTIG: NT_010393.14|37541485|na|16540614|16552582|+|16|reference
EVID: supported by alignment with mRNA
XM: NM_001169|45446751|na
XP: NP_001160|45446752|na
ACCNUM: AB013456|3868791|na|na|na
TYPE: m
PROT: BAA34223|3868792|1
ACCNUM: AF067797|6606075|na|na|na
TYPE: m
PROT: AAF19050|6606076|1
ACCNUM: BC040630|26251900|na|na|na
TYPE: m
PROT: AAH40630|26251901|1
ACCNUM: BG221545|13747566|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O94778|47117819|0
OFFICIAL_SYMBOL: AQP8
OFFICIAL_GENE_NAME: aquaporin 8
PREFERRED_PRODUCT: aquaporin 8
SUMMARY: Summary: Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0).  Aquaporin 8 mRNA is found in pancreas and colon but not other tissues.
CHR: 16
COMP: 31020|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A343[id]+AND+gene[obj_type]&QSTR=aqp8&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=176658
UNIGENE: Hs.176658
OMIM: 603750
MAP: 16p12|RefSeq|C|
MAPLINK: default_human_gene|AQP8
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=343
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=343[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6268335
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001169
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001169
PMID: 12712100,12477932,11329013,11231887,10393433,9806845
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9806845
GO: biological process|transport|TAS|GO:0006810|GOA|9806845
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
GO: molecular function|water channel activity|TAS|GO:0015250|GOA|9806845
GO: biological process|water transport|TAS|GO:0006833|GOA|9806845
>>344
LOCUSID: 344
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000483|32130517|na
NP: NP_000474|32130518
CDD: pfam05355: Apolipoprotein C-II|17732|297|na|1.186510e+02
PRODUCT: apolipoprotein C-II precursor
ASSEMBLY: AV694494,BC005348
CONTIG: NT_011109.15|29800594|na|17717461|17721036|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_000483|32130517|na
XP: NP_000474|32130518|na
ACCNUM: AY422955|37499468|na|na|na
TYPE: g
PROT: AAQ91814|37499469|1
ACCNUM: J02698|178824|na|na|na
TYPE: g
PROT: AAA98743|178825|1
ACCNUM: M10612|178835|na|na|na
TYPE: g
PROT: AAB59380|178836|1
ACCNUM: X05151|28792|na|na|na
TYPE: g
PROT: CAA28798|296636|1
ACCNUM: AF113884|4704649|na|na|na
TYPE: m
PROT: AAD28193|4704650|1
ACCNUM: AV694494|10296357|na|na|na
TYPE: m
ACCNUM: BC005348|34783909|na|na|na
TYPE: m
PROT: AAH05348|37589092|3
ACCNUM: BT006708|30582254|na|na|na
TYPE: m
PROT: AAP35354|30582255|1
ACCNUM: M29844|178740|na|na|na
TYPE: m
PROT: AAA51743|178741|1
ACCNUM: X00568|28805|na|na|na
TYPE: m
PROT: CAA25234|757915|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02655|114022|0
OFFICIAL_SYMBOL: APOC2
OFFICIAL_GENE_NAME: apolipoprotein C-II
PREFERRED_PRODUCT: apolipoprotein C-II precursor
SUMMARY: Summary: The protein encoded by this gene is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.
CHR: 19
STS: RH91449|19|84784|na|na|epcr
COMP: 411|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A344[id]+AND+gene[obj_type]&QSTR=apoc2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75615
UNIGENE: Hs.75615
OMIM: 608083
MAP: 19q13.2|HUGO|C|
MAPLINK: default_human_gene|APOC2
PHENOTYPE: Hyperlipoproteinemia, type Ib
PHENOTYPE_ID: 207750
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=344
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=344[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119689
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119689.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000483
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000483
PMID: 14718574,12782148,12682050,12590574,12477932,12450397,12032151,11752456,11751863,11310852,8323539,6328478,6328445,3558370,3525527,3474626,3467353,3263393,3030808,3014272,2415514
GO: cellular component|chylomicron|IEA|GO:0042627|GOA|na
GO: biological process|circulation|TAS|GO:0008015|GOA|3525527
GO: molecular function|enzyme activator activity|IEA|GO:0008047|GOA|na
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: biological process|lipid catabolism|IEA|GO:0016042|GOA|na
GO: biological process|lipid transport|IEA|GO:0006869|GOA|na
GO: molecular function|lipid transporter activity|IEA|GO:0005319|GOA|na
GO: molecular function|lipoprotein lipase activity|TAS|GO:0004465|GOA|3525527
>>345
LOCUSID: 345
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000040|4557322|na
NP: NP_000031|4557323
CDD: pfam05778: Apolipoprotein CIII (Apo-CIII)|24002|222|na|8.978130e+01
PRODUCT: apolipoprotein C-III precursor
ASSEMBLY: X01388
CONTIG: NT_033899.6|37540935|na|20244411|20247574|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_000040|4557322|na
XP: NP_000031|4557323|na
ACCNUM: AY422951|37499462|na|na|na
TYPE: g
PROT: AAQ91810|37499463|1
ACCNUM: J00098|178765|na|na|na
TYPE: g
PROT: AAB59515|471838|1
ACCNUM: M33043|521203|na|na|na
TYPE: g
PROT: AAB59372|521205|1
ACCNUM: X01392|28725|na|na|na
TYPE: g
PROT: CAA25648|296632|1
ACCNUM: X03120|28731|na|na|na
TYPE: g
PROT: CAA26895|671881|1
ACCNUM: BC027977|20379764|na|na|na
TYPE: m
PROT: AAH27977|20379765|1
ACCNUM: M28613|178826|na|na|na
TYPE: m
PROT: AAA51760|178827|1
ACCNUM: M28614|178828|na|na|na
TYPE: m
PROT: AAA51761|178829|1
ACCNUM: V01513|29959|na|na|na
TYPE: m
PROT: CAA24757|29960|1
ACCNUM: X00567|28799|na|na|na
TYPE: m
PROT: CAA25233|757913|1
ACCNUM: X01388|28727|na|na|na
TYPE: m
PROT: CAA25644|28728|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02656|114026|0
OFFICIAL_SYMBOL: APOC3
OFFICIAL_GENE_NAME: apolipoprotein C-III
PREFERRED_PRODUCT: apolipoprotein C-III precursor
SUMMARY: Summary: Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein.  APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles.  The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes.  The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed.  An increase in apoC-III levels induces the development of hypertriglyceridemia.
CHR: 11
STS: D11S4435|11|17475|D11S4435|seq_map|epcr
STS: RH66448|11|79601|na|seq_map|epcr
STS: D11S4370|11|79602|D11S4370|seq_map|epcr
STS: G44717|11|95192|na|seq_map|epcr
STS: GDB:178433|11|155010|na|seq_map|epcr
COMP: 24|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A345[id]+AND+gene[obj_type]&QSTR=apoc3&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73849
UNIGENE: Hs.73849
OMIM: 107720
MAP: 11q23.1-q23.2|HUGO|C|
MAPLINK: default_human_gene|APOC3
PHENOTYPE: Hypertriglyceridemia
PHENOTYPE_ID: 107720
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=345
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=345[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119001
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000040
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000040
PMID: 14718574,14569462,14563827,12782148,12692252,12477932,12401896,12235176,12189450,12176399,12118856,12082170,12052247,11839757,8099442,6548954,6439535,6404278,6328445,6308458,3935800,3931073,3123586,2989400
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: molecular function|lipid binding|IEA|GO:0008289|GOA|na
GO: biological process|lipid catabolism|IEA|GO:0016042|GOA|na
GO: biological process|lipid transport|IEA|GO:0006869|GOA|na
GO: molecular function|lipid transporter activity|NR|GO:0005319|GOA|na
GO: biological process|lipoprotein metabolism|IEA|GO:0042157|GOA|na
>>346
LOCUSID: 346
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001646|4502160|na
NP: NP_001637|4502161
PRODUCT: apolipoprotein C-IV
ASSEMBLY: U32576
CONTIG: NT_011109.15|29800594|na|17713713|17716969|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_001646|4502160|na
XP: NP_001637|4502161|na
ACCNUM: U32576|975892|na|na|na
TYPE: g
PROT: AAA91653|975893|1
ACCNUM: BC020723|18088770|na|na|na
TYPE: m
PROT: AAH20723|18088771|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P55056|1703333|0
OFFICIAL_SYMBOL: APOC4
OFFICIAL_GENE_NAME: apolipoprotein C-IV
PREFERRED_PRODUCT: apolipoprotein C-IV
SUMMARY: Summary: Apolipoprotein (apo)C4 gene is a member of the apolipoprotein gene family.  It is expressed in the liver and has a predicted protein structure characteristic of the other genes in this family.  Apo C4 is a 3.3-kb gene consisting of 3 exons and 2 introns; it is located 0.5 kb 5' to the APOC2 gene.
CHR: 19
STS: RH46551|19|31667|na|seq_map|epcr
COMP: 1245|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A346[id]+AND+gene[obj_type]&QSTR=apoc4&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=491896
UNIGENE: Hs.491896
OMIM: 600745
MAP: 19q13.2|HUGO|C|
MAPLINK: default_human_gene|APOC4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=346
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=346[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:568489
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001646
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001646
PMID: 12477932,12032151,8910501,8530039
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|8530039
GO: biological process|lipid transport|IEA|GO:0006869|GOA|na
GO: molecular function|lipid transporter activity|TAS|GO:0005319|GOA|8530039
>>347
LOCUSID: 347
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001647|4502162|na
NP: NP_001638|4502163
CDD: KOG4824: Apolipoprotein D/Lipocalin [Cell wall/membrane/envelope biogenesis]|22596|595|na|2.333790e+02
PRODUCT: apolipoprotein D precursor
ASSEMBLY: J02611
CONTIG: NT_079616.1|37546709|na|110683|125857|-|na|reference
EVID: supported by alignment with mRNA
XM: NM_001647|4502162|na
XP: NP_001638|4502163|na
ACCNUM: M16648|178842|na|na|na
TYPE: g
PROT: AAA51764|178847|1
ACCNUM: M16649|178843|na|na|na
TYPE: g
PROT: AAA51764|178847|1
ACCNUM: M16695|178844|na|na|na
TYPE: g
PROT: AAA51764|178847|1
ACCNUM: M16696|178845|na|na|na
TYPE: g
PROT: AAA51764|178847|1
ACCNUM: BC007402|33869465|na|na|na
TYPE: m
PROT: AAH07402|13938509|1
ACCNUM: CR456838|48145792|na|na|na
TYPE: m
PROT: CAG33119|48145793|1
ACCNUM: CR541773|49456502|na|na|na
TYPE: m
PROT: CAG46572|49456503|1
ACCNUM: J02611|178840|na|na|na
TYPE: m
PROT: AAB59517|178841|1
ACCNUM: S80440|1246095|na|na|na
TYPE: m
PROT: AAB35919|1246096|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05090|114034|0
OFFICIAL_SYMBOL: APOD
OFFICIAL_GENE_NAME: apolipoprotein D
PREFERRED_PRODUCT: apolipoprotein D precursor
SUMMARY: Summary: Apolipoprotein D (Apo-D) is a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. It is a glycoprotein of estimated molecular weight 33 KDa. Apo-D is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism.
CHR: 3
STS: WI-18936|3|23246|na|na|epcr
STS: STS-J02611|3|37269|na|na|epcr
STS: D3S1305|-|38578|D3S1305|na|epcr
STS: D3S1305|-|38579|D3S1305|na|epcr
STS: STS-J02611|3|41976|na|na|epcr
STS: RH69430|3|47527|na|na|epcr
STS: GDB:181196|-|155170|na|na|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75736
UNIGENE: Hs.75736
OMIM: 107740
MAP: 3q26.2-qter|RefSeq|C|
MAPLINK: default_human_gene|APOD
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=347
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=347[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119690
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001647
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001647
PMID: 14596852,14551159,12873803,12837283,12497622,12477932,12363390,8549691,3453108,2891117,2439269
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|3453108
GO: molecular function|high-density lipoprotein binding|NR|GO:0008035|GOA|na
GO: molecular function|lipid binding|IEA|GO:0008289|GOA|na
GO: biological process|lipid metabolism|TAS|GO:0006629|GOA|3453108
GO: molecular function|lipid transporter activity|TAS|GO:0005319|GOA|3453108
GO: biological process|transport|IEA|GO:0006810|GOA|na
>>348
LOCUSID: 348
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000041|48762938|na
NP: NP_000032|4557325
CDD: pfam01442: Apolipoprotein A1/A4/E family|1983|515|na|2.023840e+02
PRODUCT: apolipoprotein E precursor
ASSEMBLY: BC003557,BU848796
CONTIG: NT_011109.15|29800594|na|17677280|17680867|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_000041|48762938|na
XP: NP_000032|4557325|na
ACCNUM: AB035149|8051697|na|na|na
TYPE: g
PROT: BAA96080|8051698|1
ACCNUM: AF050154|4105701|na|na|na
TYPE: g
PROT: AAD02505|4105704|1
ACCNUM: AF261279|11034800|na|na|na
TYPE: g
PROT: AAG27089|11034801|1
ACCNUM: M10065|178852|na|na|na
TYPE: g
PROT: AAB59397|178853|1
ACCNUM: X92000|1480095|na|na|na
TYPE: g
PROT: CAA63051|1480096|1
ACCNUM: BC003557|13097698|na|na|na
TYPE: m
PROT: AAH03557|13097699|1
ACCNUM: BU848796|24033759|na|na|na
TYPE: m
ACCNUM: K00396|178850|na|na|na
TYPE: m
PROT: AAB59546|178851|1
ACCNUM: M12529|178848|na|na|na
TYPE: m
PROT: AAB59518|178849|1
ACCNUM: X00199|28808|na|na|na
TYPE: m
PROT: CAA25017|929610|1
ACCNUM: Z70760|1263122|na|na|na
TYPE: m
PROT: CAA94806|1263123|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02649|114039|0
OFFICIAL_SYMBOL: APOE
OFFICIAL_GENE_NAME: apolipoprotein E
ALIAS_SYMBOL: MGC1571
PREFERRED_PRODUCT: apolipoprotein E precursor
SUMMARY: Summary:  Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells.  ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents.  The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2.  Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants.
CHR: 19
STS: STS-N29699|19|34644|na|seq_map|epcr
STS: STS-K00396|19|64138|na|seq_map|epcr
STS: RH11470|19|72925|na|seq_map|epcr
STS: GDB:169570|19|154765|na|seq_map|epcr
STS: GDB:171177|19|154776|na|seq_map|epcr
STS: GDB:171177|19|154776|na|seq_map|9012418
STS: GDB:177380|19|154875|na|seq_map|epcr
STS: GDB:196979|19|155901|na|seq_map|epcr
STS: GDB:438097|19|157265|na|seq_map|epcr
STS: PMC117303P1|-|270328|na|na|epcr
STS: PMC310963P4|-|272827|na|na|epcr
COMP: 30951|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A348[id]+AND+gene[obj_type]&QSTR=apoe&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: apolipoprotein E3
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=110675
UNIGENE: Hs.110675
OMIM: 107741
MAP: 19q13.2|HUGO|C|
MAPLINK: default_human_gene|APOE
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_000032|apolipoprotein E precursor|Binding of HIV-1 Tat to LRP inhibits neuronal binding, uptake and degradation of physiological ligands for LRP, including alpha2-macroglobulin, apolipoprotein E4, amyloid precursor and amyloid beta-protein|11100124
PHENOTYPE: Hyperlipoproteinemia, type III
PHENOTYPE_ID: 107741
PHENOTYPE: Myocardial infarction susceptibility
PHENOTYPE_ID: 107741
PHENOTYPE: Sea-blue histiocyte disease
PHENOTYPE_ID: 269600
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=348
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=348[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119691
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000041
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000041
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=107741
DB_DESCR: Genes and Disease
DB_LINK: http://www.ncbi.nlm.nih.gov/disease/Atherosclerosis.html
DB_DESCR: KEGG pathway: Alzheimer's disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05010+348
DB_DESCR: KEGG pathway: Neurodegenerative Disorders
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa01510+348
DB_DESCR: PharmGKB: PA55
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA55
PMID: 15181372,15161645,15157846,15124760,15111582,15111581,15106838,15048897,15048896,15026113,15014128,14989602,14769603,14767871,14763962,14743603,14741429,14739533,14739281,14726545,14718574,14711551,14695944,14688411,14687732,14681851,14656220,14625044,14614898,14596852,14588111,14587032,14585838,14506116,14504972,13129656,12962909,12960780,12950167,12928512,12928055,12926843,12920078,12917433,12915220,12886039,12882872,12876259,12876232,12873586,12857755,12841538,12837283,12833577,12833399,12818414,12817590,12815750,12810485,12799433,12798568,12782148,12769659,12754278,12753088,12746397,12742846,12739024,12736801,12729008,12707938,12707937,12707932,12669678,12658375,12657895,12649507,12638732,12637699,12632068,12631135,12604387,12595762,12588864,12576523,12535745,12533090,12518038,12500534,12498968,12480082,12477932,12473860,12471457,12461692,12444983,12417381,12417380,12417379,12414984,12401887,12397634,12393935,12364385,12359980,12269825,12232782,12226739,12213863,12205649,12198535,12192621,12165926,12143056,12142731,12138091,12135350,12133811,12128082,12123486,12118856,12117364,12112161,12107813,12093429,12074828,12042894,12042316,12036962,12032151,12030385,12023438,12015813,12000192,11992569,11992263,11990879,11971084,11959333,11950276,11949718,11940706,11940690,11936240,11922198,11920850,11912196,11910554,11903399,11903341,11884660,11882335,11882334,11879722,11863377,11862316,11857554,11836653,11820771,11803456,11743999,11676291,11676289,11552016,11456487,11305869,11100124,10662539,9622609,9236223,9218423,9012418,6897404,6327682,6325438,6199196,3922972,3283935,3243553,2992507,2539388
GO: molecular function|antioxidant activity|NAS|GO:0016209|GOA|14587032
GO: molecular function|apolipoprotein E receptor binding|NAS|GO:0050749|GOA|12729008
GO: molecular function|beta-amyloid binding|IDA|GO:0001540|GOA|11305869
GO: biological process|cholesterol homeostasis|TAS|GO:0042632|GOA|9622609
GO: biological process|circulation|NAS|GO:0008015|GOA|14506116
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|9622609
GO: biological process|cytoskeleton organization and biogenesis|TAS|GO:0007010|GOA|9622609
GO: cellular component|extracellular|NAS|GO:0005576|GOA|9622609,14718574
GO: cellular component|extracellular|TAS|GO:0005576|GOA|9622609,14718574
GO: molecular function|heparin binding|NAS|GO:0008201|GOA|12729008
GO: biological process|induction of apoptosis|IDA|GO:0006917|GOA|12753088
GO: biological process|intracellular transport|TAS|GO:0046907|GOA|9622609
GO: biological process|learning and/or memory|TAS|GO:0007611|GOA|9622609
GO: molecular function|lipid binding|IEA|GO:0008289|GOA|na
GO: biological process|lipid transport|TAS|GO:0006869|GOA|9622609
GO: molecular function|lipid transporter activity|IEA|GO:0005319|GOA|na
GO: biological process|lipoprotein metabolism|NAS|GO:0042157|GOA|12729008
GO: molecular function|low-density lipoprotein receptor binding|NAS|GO:0050750|GOA|12729008
GO: biological process|regulation of axon extension|TAS|GO:0030516|GOA|9622609
GO: biological process|regulation of neuronal synaptic plasticity|TAS|GO:0048168|GOA|9622609
GO: biological process|response to reactive oxygen species|NAS|GO:0000302|GOA|11743999
GO: biological process|synaptic transmission, cholinergic|TAS|GO:0007271|GOA|9622609
GO: molecular function|tau protein binding|TAS|GO:0048156|GOA|9622609
>>349
LOCUSID: 349
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: APOEL1
OFFICIAL_GENE_NAME: apolipoprotein E-like 1
CHR: 16
MAP: 16q11-q24|RefSeq|C|
MAPLINK: default_human_cyto|APOEL1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119002
PMID: 1505951
>>350
LOCUSID: 350
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000042|4557326|na
NP: NP_000033|4557327
CDD: pfam00084: Sushi domain (SCR repeat)|22898|136|na|5.664430e+01
PRODUCT: beta-2-glycoprotein I precursor
ASSEMBLY: X53595
CONTIG: NT_010783.14|37544107|na|22936892|22954271|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_000042|4557326|na
XP: NP_000033|4557327|na
ACCNUM: Y11493|2765105|na|na|na
TYPE: g
PROT: CAA72279|2765106|1
ACCNUM: Y17754|3688371|na|na|na
TYPE: g
PROT: CAA76845|3688372|1
ACCNUM: BC020703|18089103|na|na|na
TYPE: m
PROT: AAH20703|18089104|1
ACCNUM: BC026283|20072225|na|na|na
TYPE: m
PROT: AAH26283|20072226|1
ACCNUM: M62839|178856|na|na|na
TYPE: m
PROT: AAA51766|178857|1
ACCNUM: S80305|244677|na|na|na
TYPE: m
PROT: AAB21330|244678|1
ACCNUM: X53595|28811|na|na|na
TYPE: m
PROT: CAA37664|28812|1
ACCNUM: X57847|28813|na|na|na
TYPE: m
PROT: CAA40977|28814|1
ACCNUM: X58100|28809|na|na|na
TYPE: m
PROT: CAA41113|28810|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P02749|543826|0
OFFICIAL_SYMBOL: APOH
OFFICIAL_GENE_NAME: apolipoprotein H (beta-2-glycoprotein I)
ALIAS_SYMBOL: BG
ALIAS_SYMBOL: B2G1
PREFERRED_PRODUCT: beta-2-glycoprotein I precursor
SUMMARY: Summary: Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies.  APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections.
CHR: 17
STS: RH47133|17|30705|na|seq_map|epcr
STS: RH11628|17|79375|na|seq_map|epcr
STS: G43003|-|94872|na|na|epcr
COMP: 26|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A350[id]+AND+gene[obj_type]&QSTR=apoh&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1252
UNIGENE: Hs.1252
OMIM: 138700
MAP: 17q23-qter|HUGO|C|
MAPLINK: default_human_gene|APOH
REL2: 155030|NP_057850|Gag, Pr55|binds|NP_000033|beta-2-glycoprotein I precursor|Binding of apolipoprotein H to HIV-1 Gag protein p18 as well as to the Gag p55 polyprotein has been demonstrated in vitro|8989432
PHENOTYPE: Apolipoprotein H deficiency
PHENOTYPE_ID: 138700
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=350
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=350[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118887
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000042
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000042
PMID: 14726399,14718574,14707422,12970918,12918732,12807892,12590955,12571857,12562869,12477932,12471146,12441378,12440522,12428105,12362233,12235181,12139935,12124280,12038453,11953211,11816715,11686326,11434778,9914524,8989432,1777418,1748314,1655523,1650181,1582254,1339416
GO: biological process|defense response|NR|GO:0006952|GOA|na
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: molecular function|heparin binding|IEA|GO:0008201|GOA|na
GO: molecular function|lipid transporter activity|NR|GO:0005319|GOA|na
>>351
LOCUSID: 351
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000484|41406053|na
NP: NP_000475|4502167
CDD: pfam03494: Beta-amyloid peptide (beta-APP)|5537|165|na|6.768990e+01
CDD: pfam02177: Amyloid A4 extracellular domain|23312|780|na|3.045890e+02
CDD: cd00109: BPTI/Kunitz family of serine protease inhibitors|5332|219|na|8.840820e+01
CDD: KOG3540: Beta amyloid precursor protein [General function prediction only]|21323|1347|na|5.230660e+02
PRODUCT: amyloid beta A4 protein precursor, isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
ASSEMBLY: BC018937,BE907745,BI559391,Y00264
NM: NM_201413|41406054|na
NP: NP_958816|41406055
CDD: pfam03494: Beta-amyloid peptide (beta-APP)|5537|164|na|6.730470e+01
CDD: pfam02177: Amyloid A4 extracellular domain|23312|779|na|3.042040e+02
CDD: cd00109: BPTI/Kunitz family of serine protease inhibitors|5332|217|na|8.763780e+01
CDD: KOG3540: Beta amyloid precursor protein [General function prediction only]|21323|1334|na|5.180580e+02
PRODUCT: amyloid beta A4 protein precursor, isoform b
TRANSVAR: Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
ASSEMBLY: BE907745,BM172428,X06989,Y00264
NM: NM_201414|41406056|na
NP: NP_958817|41406057
CDD: pfam03494: Beta-amyloid peptide (beta-APP)|5537|162|na|6.653430e+01
CDD: pfam02177: Amyloid A4 extracellular domain|23312|788|na|3.076710e+02
CDD: KOG3540: Beta amyloid precursor protein [General function prediction only]|21323|1307|na|5.076580e+02
PRODUCT: amyloid beta A4 protein precursor, isoform c
TRANSVAR: Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
ASSEMBLY: BE907745,BI559391,Y00264
CONTIG: NT_011512.9|37558541|na|12914732|13205003|-|21|reference
EVID: supported by alignment with mRNA
XM: NM_000484|41406053|na
XP: NP_000475|4502167|na
EVID: supported by alignment with mRNA
XM: NM_201413|41406054|na
XP: NP_958816|41406055|na
EVID: supported by alignment with mRNA
XM: NM_201414|41406056|na
XP: NP_958817|41406057|na
ACCNUM: D87675|2429080|na|na|na
TYPE: g
PROT: BAA22264|2429081|1
ACCNUM: M24546|341201|na|na|na
TYPE: g
PROT: AAC13654|516074|1
ACCNUM: M33112|178613|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34862|178595|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34863|178596|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34864|178597|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34865|178598|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34866|178599|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34867|178600|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34868|178601|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34869|178602|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34870|178603|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34871|178604|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34872|178605|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34873|178606|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34874|178607|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34875|178608|na|na|na
TYPE: g
PROT: AAB59501|178615|1
ACCNUM: M34876|178609|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34877|178610|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34878|178611|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: M34879|178612|na|na|na
TYPE: g
PROT: AAB59502|178616|1
ACCNUM: AF282245|33339673|na|na|na
TYPE: m
PROT: AAQ14327|33339674|1
ACCNUM: BC004369|13325111|na|na|na
TYPE: m
PROT: AAH04369|13325112|1
ACCNUM: BC018937|39645179|na|na|na
TYPE: m
ACCNUM: BC065523|41350936|na|na|na
TYPE: m
PROT: AAH65523|41350937|1
ACCNUM: BC065529|41350938|na|na|na
TYPE: m
PROT: AAH65529|41350939|1
ACCNUM: BE907745|10401615|na|na|na
TYPE: m
ACCNUM: BI559391|15446705|na|na|na
TYPE: m
ACCNUM: BM172428|17311991|na|na|na
TYPE: m
ACCNUM: M15532|177957|na|na|na
TYPE: m
PROT: AAA51564|177958|1
ACCNUM: M15533|178706|na|na|na
TYPE: m
PROT: AAA35540|178707|1
ACCNUM: M16765|178539|na|na|na
TYPE: m
PROT: AAA51722|178540|1
ACCNUM: M18734|178572|na|na|na
TYPE: m
PROT: AAA51726|178573|1
ACCNUM: M28373|609448|na|na|na
TYPE: m
PROT: AAA58727|609449|1
ACCNUM: X06989|28720|na|na|na
TYPE: m
PROT: CAA30050|28721|1
ACCNUM: Y00264|28525|na|na|na
TYPE: m
PROT: CAA68374|28526|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05067|112927|0
OFFICIAL_SYMBOL: APP
OFFICIAL_GENE_NAME: amyloid beta (A4) precursor protein (protease nexin-II, Alzheimer disease)
ALIAS_SYMBOL: AAA
ALIAS_SYMBOL: AD1
ALIAS_SYMBOL: PN2
ALIAS_SYMBOL: ABPP
ALIAS_SYMBOL: APPI
ALIAS_SYMBOL: CVAP
ALIAS_SYMBOL: ABETA
ALIAS_SYMBOL: PreA4
PREFERRED_PRODUCT: amyloid beta A4 protein precursor, isoform a
PREFERRED_PRODUCT: amyloid beta A4 protein precursor, isoform b
PREFERRED_PRODUCT: amyloid beta A4 protein precursor, isoform c
SUMMARY: Summary: This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene.
CHR: 21
STS: WI-18826|21|9847|na|seq_map|epcr
STS: G34719|21|33374|na|seq_map|epcr
STS: D2S2243|21|38930|D2S2243|seq_map|epcr
STS: RH67934|21|49337|na|seq_map|epcr
STS: RH77727|21|67046|na|seq_map|epcr
STS: SHGC-52109|21|74484|na|seq_map|epcr
STS: D21S1968|21|79221|D21S1968|seq_map|epcr
STS: D21S1968|21|79221|D21S1968|seq_map|1303244,3159021
STS: GDB:185158|21|155414|na|seq_map|epcr
STS: GDB:185159|21|155415|na|seq_map|epcr
STS: GDB:585471|-|157889|na|na|epcr
STS: APP_48|-|277004|na|na|epcr
COMP: 22406|21|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=21&MAPS=genes-r-org/rat-chr/human%3A21,genes-r-org/mouse-chr/human%3A21,genes-r-org/human-chr21&query=e%3A351[id]+AND+gene[obj_type]&QSTR=app&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: protease nexin-II
ALIAS_PROT: Alzheimer disease 1
ALIAS_PROT: amyloid beta-peptide
ALIAS_PROT: cerebral vascular amyloid peptide
ALIAS_PROT: amyloid of aging and Alzheimer disease
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177486
UNIGENE: Hs.177486
OMIM: 104760
MAP: 21q21.2|HUGO|C|21q21.3|RefSeq|C|
MAPLINK: default_human_gene|APP
REL2: 155871|NP_057853|Tat, p14|inhibits|NP_000475|amyloid beta A4 protein precursor|Binding of HIV-1 Tat to LRP inhibits neuronal binding, uptake and degradation of physiological ligands for LRP, including alpha2-macroglobulin, apolipoprotein E4, amyloid precursor and amyloid beta-protein|11100124
PHENOTYPE: Alzheimer disease-1, APP-related
PHENOTYPE_ID: 104760
PHENOTYPE: Amyloidosis, cerebroarterial, Dutch type
PHENOTYPE_ID: 104760
PHENOTYPE: Schizophrenia, chronic
PHENOTYPE_ID: 104760
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=351
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=351[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119692
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119692.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000484
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000484
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=104760
DB_DESCR: KEGG pathway: Alzheimer's disease
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05010+351
DB_DESCR: KEGG pathway: Neurodegenerative Disorders
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa01510+351
PMID: 15161650,15087549,15087467,15073156,15053925,15044485,15037614,15033805,15013569,14992810,14985339,14978032,14871891,14724276,14699153,14699107,14687578,14676049,14663182,14659754,14615541,14550290,14527950,14525989,14523627,14507922,12972252,12960155,12958194,12944403,12921787,12917434,12900421,12895507,12893827,12888553,12874400,12859342,12824062,12815102,12799176,12796495,12763021,12754201,12730216,12716908,12702875,12697936,12670422,12659848,12653567,12645527,12627474,12626500,12611883,12586836,12535605,12493731,12480759,12480183,12477932,12472467,12471457,12464614,12435726,12433268,12426076,12414694,12393935,12388551,12383342,12230982,12215842,12177374,12146796,12128082,12128081,12128080,12128077,12124613,12119298,12107175,12099698,12099697,12091492,12080182,12079364,12069633,12054503,12054502,12048239,12038964,12032152,12025818,12023906,12016588,12016213,11932745,11915326,11915325,11912199,11912198,11912196,11882652,11879646,11877420,11831556,11823458,11809755,11756677,11580253,11500807,11100124,10953012,10922078,10884510,10830953,10806211,10561592,10081969,10049767,9108164,8626687,8596911,8476439,3810169,3159021,3035574,2949367,2893379,2893291,2893290,2893289,2881207,2783775,2675837,2569763,2538123,2507928,2111584,2110105,1707846,1679289,1303244
GO: cellular component|Golgi apparatus|TAS|GO:0005794|GOA|10922078
GO: biological process|apoptosis|TAS|GO:0006915|GOA|10953012
GO: biological process|cell adhesion|IEA|GO:0007155|GOA|na
GO: biological process|cell death|TAS|GO:0008219|GOA|10884510
GO: cellular component|coated pit|IEA|GO:0005905|GOA|na
GO: biological process|copper ion homeostasis|TAS|GO:0006878|GOA|8596911
GO: biological process|endocytosis|IEA|GO:0006897|GOA|na
GO: cellular component|endoplasmic reticulum|TAS|GO:0005783|GOA|10922078
GO: cellular component|extracellular|TAS|GO:0005576|GOA|10806211
GO: molecular function|heparin binding|IEA|GO:0008201|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|10806211
GO: molecular function|protein binding|IPI|GO:0005515|GOA|10049767,10081969
GO: molecular function|serine-type endopeptidase inhibitor activity|TAS|GO:0004867|GOA|2507928
GO: biological process|signal transduction|TAS|GO:0007165|GOA|8626687
>>352
LOCUSID: 352
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: APPL1
OFFICIAL_GENE_NAME: amyloid beta (A4) precursor protein-like 1
CHR: 9
OMIM: 104740
MAP: 9q31-qter|HUGO|C|
MAPLINK: default_human_cyto|APPL1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119693
>>353
LOCUSID: 353
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000485|4502170|na
NP: NP_000476|4502171
CDD: KOG1712: Adenine phosphoribosyl transferases [Nucleotide transport and metabolism]|19499|678|na|2.651890e+02
PRODUCT: adenine phosphoribosyltransferase
ASSEMBLY: Y00486
CONTIG: NT_010542.14|37541576|na|433700|436199|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_000485|4502170|na
XP: NP_000476|4502171|na
ACCNUM: AY306126|31415696|na|na|na
TYPE: g
PROT: AAP45051|31415697|1
ACCNUM: M16446|178866|na|na|na
TYPE: g
PROT: AAA51769|178867|1
ACCNUM: U09817|498573|na|na|na
TYPE: g
PROT: AAB84304|498574|1
ACCNUM: Y00486|28818|na|na|na
TYPE: g
PROT: CAA68543|28819|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P07741|114074|0
OFFICIAL_SYMBOL: APRT
OFFICIAL_GENE_NAME: adenine phosphoribosyltransferase
ALIAS_SYMBOL: AMP
PREFERRED_PRODUCT: adenine phosphoribosyltransferase
SUMMARY: Summary: Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis.
CHR: 16
STS: RH70957|16|15081|na|seq_map|epcr
STS: RH68125|16|27274|na|seq_map|epcr
COMP: 413|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A353[id]+AND+gene[obj_type]&QSTR=aprt&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: AMP diphosphorylase
ALIAS_PROT: AMP pyrophosphorylase
ALIAS_PROT: transphosphoribosidase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=28914
UNIGENE: Hs.28914
OMIM: 102600
ECNUM: 2.4.2.7
MAP: 16q24|RefSeq|C|
MAPLINK: default_human_gene|APRT
PHENOTYPE: Urolithiasis, 2,8-dihydroxyadenine
PHENOTYPE_ID: 102600
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=353
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=353[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119003
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000485
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000485
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=102600
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+353
PMID: 10481956,10479485,10369268,9298830,8889579,8455250,7660991,3684585,3554238,3531209,2067530
GO: molecular function|adenine phosphoribosyltransferase activity|TAS|GO:0003999|GOA|3531209
GO: biological process|adenine salvage|IEA|GO:0006168|GOA|na
GO: biological process|nucleoside metabolism|IEA|GO:0009116|GOA|na
GO: biological process|purine ribonucleoside salvage|IEA|GO:0006166|GOA|na
GO: molecular function|transferase activity, transferring glycosyl groups|IEA|GO:0016757|GOA|na
>>354
LOCUSID: 354
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001648|22208990|na
NP: NP_001639|4502173
CDD: smart00020: Trypsin-like serine protease|22662|620|na|2.429350e+02
PRODUCT: prostate specific antigen isoform 1 preproprotein
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform of this protein.
ASSEMBLY: X05332
NM: NM_145864|22208991|na
NP: NP_665863|22208992
PRODUCT: prostate specific antigen isoform 2
TRANSVAR: Transcript Variant: This variant (2) uses an alternate splice site within the coding region, resulting in a frameshift. Isoform 2 has a shorter and distinct C-terminus compared to isoform 1.
ASSEMBLY: AJ459784,X05332
CONTIG: NT_011109.15|29800594|na|23626361|23632210|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_001648|22208990|na
XP: NP_001639|4502173|na
EVID: supported by alignment with mRNA
XM: NM_145864|22208991|na
XP: NP_665863|22208992|na
ACCNUM: AF243527|11244757|na|na|na
TYPE: g
PROT: AAG33355|11244760|1
ACCNUM: M24543|341200|na|na|na
TYPE: g
PROT: AAA60193|511857|1
ACCNUM: M27274|190552|na|na|na
TYPE: g
PROT: AAA60192|190553|1
ACCNUM: X13940|35722|na|na|na
TYPE: g
PROT: CAA32123|35723|1
ACCNUM: X13941|35724|na|na|na
TYPE: g
PROT: CAA32124|1335282|1
ACCNUM: X13942|35726|na|na|na
TYPE: g
PROT: CAB46487|5419891|1
ACCNUM: X13943|35728|na|na|na
TYPE: g
PROT: CAA32126|1335283|1
ACCNUM: X13944|35730|na|na|na
TYPE: g
PROT: CAA32127|1335284|1
ACCNUM: X14810|35732|na|na|na
TYPE: g
PROT: CAA32915|296671|1
ACCNUM: AF335478|18478572|na|na|na
TYPE: m
PROT: AAL73205|18478573|1
ACCNUM: AJ310938|14422306|na|na|na
TYPE: m
PROT: CAC41632|14422307|1
ACCNUM: AJ459784|20520644|na|na|na
TYPE: m
PROT: CAD30846|20520645|1
ACCNUM: BC005307|13529043|na|na|na
TYPE: m
PROT: AAH05307|13529044|1
ACCNUM: BC050595|34193547|na|na|na
TYPE: m
PROT: AAH50595|34193548|2
ACCNUM: BC056665|34784812|na|na|na
TYPE: m
PROT: AAH56665|34784813|1
ACCNUM: M21895|189523|na|na|na
TYPE: m
PROT: AAA59995|189524|1
ACCNUM: M21896|189525|na|na|na
TYPE: m
PROT: AAA59996|189526|1
ACCNUM: M21897|189529|na|na|na
TYPE: m
PROT: AAA59997|189530|1
ACCNUM: M26663|618463|na|na|na
TYPE: m
PROT: AAA58802|618464|1
ACCNUM: S75755|861469|na|na|na
TYPE: m
PROT: AAD14185|4261885|1
ACCNUM: U17040|595945|na|na|na
TYPE: m
PROT: AAA56764|595946|1
ACCNUM: X05332|35740|na|na|na
TYPE: m
PROT: CAA28947|35741|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P07288|130989|0
OFFICIAL_SYMBOL: KLK3
OFFICIAL_GENE_NAME: kallikrein 3, (prostate specific antigen)
ALIAS_SYMBOL: APS
ALIAS_SYMBOL: PSA
PREFERRED_PRODUCT: prostate specific antigen isoform 1 preproprotein
PREFERRED_PRODUCT: prostate specific antigen isoform 2
SUMMARY: Summary: Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates two transcript variants encoding different isoforms. Additional transcript variants have been described, but it is unclear if these transcripts are normally expressed or if they are specific to benign or malignant tumors.
CHR: 19
STS: RH70617|-|30407|na|na|epcr
STS: D19S1013|19|68940|D19S1013|seq_map|epcr
STS: RH17676|19|80100|na|seq_map|epcr
STS: PMC290276P4|-|272424|na|na|epcr
ALIAS_PROT: seminin
ALIAS_PROT: P-30 antigen
ALIAS_PROT: semenogelase
ALIAS_PROT: gamma-seminoprotein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171995
UNIGENE: Hs.171995
OMIM: 176820
ECNUM: 3.4.21.77
MAP: 19q13.41|RefSeq|C|
MAPLINK: default_human_gene|KLK3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=354
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119695
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001648
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001648
PMID: 15050736,14761877,14718574,14696124,14607215,14584757,12970746,12970732,12949939,12865450,12782640,12626390,12496487,12477932,12398228,12362977,12210484,12209605,12124798,12111704,12032296,11909978,11839651,11834722,11502200,10969073,10675891,7527295,2472789,2471958,2470553,2470373,2466464,2458104,2456523,2436946
GO: molecular function|chymotrypsin activity|IEA|GO:0004263|GOA|na
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|negative regulation of angiogenesis|NAS|GO:0016525|GOA|10675891
GO: biological process|proteolysis and peptidolysis|IEA|GO:0006508|GOA|na
GO: biological process|proteolysis and peptidolysis|NAS|GO:0006508|GOA|na
GO: molecular function|trypsin activity|IEA|GO:0004295|GOA|na
>>355
LOCUSID: 355
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000043|23510419|na
NP: NP_000034|4507583
CDD: cd00185: Tumor necrosis factor receptor (TNFR) domain|14843|199|na|8.085050e+01
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|24191|193|na|7.855040e+01
CDD: smart00208: Tumor necrosis factor receptor / nerve growth factor receptor repeats|3847|89|na|3.844200e+01
PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 1 precursor
TRANSVAR: Transcript Variant: This variant (1) encodes the longest isoform (1).
ASSEMBLY: BC012479,D31968
NM: NM_152871|23510420|na
NP: NP_690610|23510421
CDD: cd00185: Tumor necrosis factor receptor (TNFR) domain|14843|199|na|8.085050e+01
CDD: smart00005: DEATH domain, found in proteins involved in cell death (apoptosis)|24191|193|na|7.855040e+01
CDD: smart00208: Tumor necrosis factor receptor / nerve growth factor receptor repeats|3847|89|na|3.844200e+01
PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 2 precursor
TRANSVAR: Transcript Variant: This variant (2) lacks an in-frame coding segment compared to variant 1, resulting an isoform (2) that lacks an internal region, as compared to isoform 1.
ASSEMBLY: BC012479,D31968,Z47993
NM: NM_152872|23510422|na
NP: NP_690611|23510423
CDD: pfam00020: TNFR/NGFR cysteine-rich region|5819|80|na|3.489130e+01
CDD: cd00185: Tumor necrosis factor receptor (TNFR) domain|14843|163|na|6.698330e+01
PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 3 precursor
TRANSVAR: Transcript Variant: This variant (3) lacks a coding segment, which leads to a translation frameshift, compared to variant 1. The resulting isoform (3) contains a distinct and shorter C-terminus, as compared to isoform 1.
ASSEMBLY: BC012479,D31968
NM: NM_152873|23510424|na
NP: NP_690612|23510425
CDD: cd00185: Tumor necrosis factor receptor (TNFR) domain|14843|112|na|4.733810e+01
PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 4 precursor
TRANSVAR: Transcript Variant: This variant (4) lacks a coding segment, which leads to a translation frameshift, compared to variant 1. The resulting isoform (4) contains a distinct and shorter C-terminus, as compared to isoform 1.
ASSEMBLY: BC012479,D31968,Z70519
NM: NM_152874|23510426|na
NP: NP_690613|23510427
CDD: cd00185: Tumor necrosis factor receptor (TNFR) domain|14843|112|na|4.733810e+01
PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 4 precursor
TRANSVAR: Transcript Variant: This variant (8) lacks two coding segments, which leads to a translation frameshift, compared to variant 1. The resulting isoform (4) contains a distinct and shorter C-terminus, as compared to isoform 1.
ASSEMBLY: BC012479,D31968
NM: NM_152875|23510428|na
NP: NP_690614|23510429
CDD: cd00185: Tumor necrosis factor receptor (TNFR) domain|14843|109|na|4.618250e+01
PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 5 precursor
TRANSVAR: Transcript Variant: This variant (5) lacks two coding segments, which leads to a translation frameshift, compared to variant 1. The resulting isoform (5) contains a distinct and shorter C-terminus, as compared to isoform 1.
ASSEMBLY: BC012479,D31968,Z70520
NM: NM_152876|23510430|na
NP: NP_690615|23510431
PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 6 precursor
TRANSVAR: Transcript Variant: This variant (6) lacks two coding segments, which leads to a translation frameshift, compared to variant 1. The resulting isoform (6) contains a distinct and shorter C-terminus, as compared to isoform 1.
ASSEMBLY: BC012479,D31968,Z47995
NM: NM_152877|23510433|na
NP: NP_690616|23510434
PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 7 precursor
TRANSVAR: Transcript Variant: This variant (7) lacks a coding segment, which leads to a translation frameshift, compared to variant 1. The resulting isoform (7) contains a distinct and shorter C-terminus, as compared to isoform 1.
ASSEMBLY: BC012479,D31968,Z47994
CONTIG: NT_030059.11|37550928|na|9498804|9524058|+|10|reference
EVID: supported by alignment with mRNA
XM: NM_000043|23510419|na
XP: NP_000034|4507583|na
EVID: supported by alignment with mRNA
XM: NM_152871|23510420|na
XP: NP_690610|23510421|na
EVID: supported by alignment with mRNA
XM: NM_152872|23510422|na
XP: NP_690611|23510423|na
EVID: supported by alignment with mRNA
XM: NM_152873|23510424|na
XP: NP_690612|23510425|na
EVID: supported by alignment with mRNA
XM: NM_152874|23510426|na
XP: NP_690613|23510427|na
EVID: supported by alignment with mRNA
XM: NM_152875|23510428|na
XP: NP_690614|23510429|na
EVID: supported by alignment with mRNA
XM: NM_152876|23510430|na
XP: NP_690615|23510431|na
EVID: supported by alignment with mRNA
XM: NM_152877|23510433|na
XP: NP_690616|23510434|na
ACCNUM: AF061978|3128400|na|na|na
TYPE: g
PROT: AAC16237|3128404|1
ACCNUM: D31968|961455|na|na|na
TYPE: g
PROT: BAA20850|4433150|1
ACCNUM: BC012479|15214691|na|na|na
TYPE: m
PROT: AAH12479|15214692|1
ACCNUM: CR450307|47496560|na|na|na
TYPE: m
PROT: CAG29303|47496561|1
ACCNUM: M67454|182409|na|na|na
TYPE: m
PROT: AAA63174|182410|1
ACCNUM: X63717|28741|na|na|na
TYPE: m
PROT: CAA45250|28742|1
ACCNUM: X83490|971454|na|na|na
TYPE: m
ACCNUM: X83491|971455|na|na|na
TYPE: m
ACCNUM: X83492|971456|na|na|na
TYPE: m
ACCNUM: X83493|971457|na|na|na
TYPE: m
ACCNUM: X89101|887457|na|na|na
TYPE: m
PROT: CAA61473|887458|1
ACCNUM: Z47993|728578|na|na|na
TYPE: m
PROT: CAA88031|695539|1
ACCNUM: Z47994|728579|na|na|na
TYPE: m
PROT: CAA88032|695541|1
ACCNUM: Z47995|728580|na|na|na
TYPE: m
PROT: CAA88033|695543|1
ACCNUM: Z66556|1150412|na|na|na
TYPE: m
ACCNUM: Z70519|1418817|na|na|na
TYPE: m
PROT: CAA94430|1418818|1
ACCNUM: Z70520|1418815|na|na|na
TYPE: m
PROT: CAA94431|1418816|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P25445|119833|0
OFFICIAL_SYMBOL: TNFRSF6
OFFICIAL_GENE_NAME: tumor necrosis factor receptor superfamily, member 6
ALIAS_SYMBOL: FAS
ALIAS_SYMBOL: APT1
ALIAS_SYMBOL: CD95
ALIAS_SYMBOL: FAS1
ALIAS_SYMBOL: APO-1
ALIAS_SYMBOL: FASTM
PREFERRED_PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 1 precursor
PREFERRED_PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 2 precursor
PREFERRED_PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 3 precursor
PREFERRED_PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 4 precursor
PREFERRED_PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 5 precursor
PREFERRED_PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 6 precursor
PREFERRED_PRODUCT: tumor necrosis factor receptor superfamily, member 6 isoform 7 precursor
SUMMARY: Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. At least eight alternatively spliced transcript variants encoding seven distinct isoforms have been described. The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform.
CHR: 10
STS: RH11007|10|72023|na|seq_map|epcr
STS: D10S2281|10|79142|D10S2281|seq_map|epcr
STS: RH91808|10|89274|na|seq_map|epcr
STS: GDB:362780|-|156762|na|na|epcr
STS: GDB:362783|-|156763|na|na|epcr
STS: GDB:362785|-|156764|na|na|epcr
STS: GDB:461208|-|157493|na|na|epcr
STS: GDB:681362|-|158618|na|na|epcr
STS: GDB:682143|-|158637|na|na|epcr
STS: GDB:682147|-|158638|na|na|epcr
STS: PMC96480P1|-|273628|na|na|epcr
STS: TNFRSF6_1709|-|277831|na|na|epcr
COMP: 27|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A355[id]+AND+gene[obj_type]&QSTR=tnfrsf6&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Fas antigen
ALIAS_PROT: apoptosis antigen 1
ALIAS_PROT: APO-1 cell surface antigen
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82359
UNIGENE: Hs.82359
OMIM: 134637
MAP: 10q24.1|HUGO|C|
MAPLINK: default_human_gene|TNFRSF6
REL2: 155945|NP_057855|Vpu, p16|interacts with|NP_000034|tumor necrosis factor receptor superfamily, member 6|Increased susceptibility of HIV-infected cells to Fas killing has been mapped to the HIV-1 vpu gene|9847311
REL2: 155871|NP_057853|Tat, p14|upregulates|NP_000034|tumor necrosis factor receptor superfamily, member 6|HIV-1 Tat activates B and T cells and upregulates expression of Fas (CD95) in these cells|9268734,9223324
REL2: 155871|NP_057853|Tat, p14|upregulates|NP_000034|tumor necrosis factor receptor superfamily, member 6|HIV-1 Tat sensitizes T cells to CD95 mediated apoptosis through the upregulation of CD95 ligand and caspase 8|11909874,10671224,9971775,7539892
PHENOTYPE: Autoimmune lymphoproliferative syndrome
PHENOTYPE_ID: 601859
PHENOTYPE: Squamous cell carcinoma, burn scar-related, somatic
PHENOTYPE_ID: 134637
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=355
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=355[loc]&TAXID=9606
BUTTON: prow.gif
LINK: http://www.ncbi.nlm.nih.gov/prow/guide/800189472_g.htm
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132671
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/132671.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000043
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000043
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+355
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+355
DB_DESCR: KEGG pathway: Cytokine-cytokine receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04060+355
PMID: 15160902,15055260,15054468,15042330,15039424,15019807,15016553,14991945,14981943,14745445,14739535,14739003,14724564,14676203,14668794,14647422,14644318,14644092,14637155,14625471,14625298,14625033,14594800,14585083,14573612,14557654,14534720,14533029,14530312,14512182,14506242,12963547,12952224,12923319,12883671,12880639,12874203,12855687,12855571,12824926,12803240,12794152,12788915,12783210,12770553,12757469,12742739,12742662,12724420,12717632,12710855,12706861,12699879,12698366,12679613,12646947,12629150,12623840,12604424,12587820,12583439,12581154,12557947,12516573,12515623,12515395,12513829,12507389,12497631,12485855,12482505,12482410,12477932,12466128,12452031,12419941,12415011,12414525,12397013,12393889,12393649,12393468,12388693,12324452,12270344,12244143,12234263,12221075,12220552,12207908,12207331,12198154,12196516,12185583,12177303,12169207,12163388,12150947,12140383,12139945,12137598,12131184,12107169,12096925,12096347,12067476,12064832,12060768,12060388,12049185,12040174,12037669,12034188,12032668,12021072,11994542,11986289,11975981,11965496,11961305,11949822,11941452,11920253,11909874,11895550,11891278,11867183,11864613,11861273,11857317,11836578,11830507,11809905,11790791,11788891,11786482,11782802,11779855,11771526,11733515,11692157,11101867,11048730,10875918,10871852,10671224,10506221,9971775,9847311,9727492,9360929,9268734,9223324,8598453,7575433,7543095,7539892,7533181,7529798,7514572,7510905,2787530,2469768,1713127,1385309,1385299,1375228
GO: biological process|anti-apoptosis|TAS|GO:0006916|GOA|7510905
GO: biological process|apoptosis|IEA|GO:0006915|GOA|na
GO: cellular component|cytosol|NAS|GO:0005829|GOA|7533181
GO: biological process|immune response|IEA|GO:0006955|GOA|na
GO: biological process|induction of apoptosis|TAS|GO:0006917|GOA|1375228
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: biological process|protein complex assembly|TAS|GO:0006461|GOA|10875918
GO: biological process|regulation of apoptosis|NAS|GO:0042981|GOA|7533181
GO: biological process|signal transduction|IEA|GO:0007165|GOA|9360929
GO: biological process|signal transduction|TAS|GO:0007165|GOA|9360929
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|7510905
GO: molecular function|transmembrane receptor activity|IEA|GO:0004888|GOA|na
>>356
LOCUSID: 356
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000639|4557328|na
NP: NP_000630|4557329
CDD: cd00184: Tumor Necrosis Factor|14842|338|na|1.343020e+02
PRODUCT: apoptosis (APO-1) antigen ligand 1
ASSEMBLY: X89102
CONTIG: NT_004487.16|37547538|na|1676677|1684505|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_000639|4557328|na
XP: NP_000630|4557329|na
ACCNUM: AB013303|3492846|na|na|na
TYPE: g
PROT: BAA32542|3492847|1
ACCNUM: Z96050|2168138|na|na|na
TYPE: g
PROT: CAB09424|2168140|1
ACCNUM: AF288573|12597288|na|na|na
TYPE: m
PROT: AAG60017|12597289|1
ACCNUM: BC017502|17028380|na|na|na
TYPE: m
PROT: AAH17502|17028381|1
ACCNUM: D38122|601892|na|na|na
TYPE: m
PROT: BAA07320|1369902|1
ACCNUM: U08137|624627|na|na|na
TYPE: m
PROT: AAC50071|624628|1
ACCNUM: U11821|595430|na|na|na
TYPE: m
PROT: AAC50124|595431|1
ACCNUM: X89102|887455|na|na|na
TYPE: m
PROT: CAA61474|887456|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P48023|1345957|0
OFFICIAL_SYMBOL: TNFSF6
OFFICIAL_GENE_NAME: tumor necrosis factor (ligand) superfamily, member 6
ALIAS_SYMBOL: FASL
ALIAS_SYMBOL: CD178
ALIAS_SYMBOL: CD95L
ALIAS_SYMBOL: APT1LG1
PREFERRED_PRODUCT: apoptosis (APO-1) antigen ligand 1
SUMMARY: Summary:  Apoptosis antigen ligand 1 is the ligand for FAS.  Both are transmembrane proteins.  Interaction of FAS with its ligand is critical in triggering apoptosis of some types of cells such as lymphocytes.  Defects in TNFSF6 may be related to some cases of systemic lupus erythematosus (SLE).
CHR: 1
STS: D1S3717|1|10533|D1S3717|seq_map|epcr
STS: D1S3209|1|75969|D1S3209|seq_map|epcr
STS: PMC86001P1|-|273502|na|na|epcr
STS: PMC86001P2|-|273503|na|na|epcr
COMP: 533|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A356[id]+AND+gene[obj_type]&QSTR=tnfsf6&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: CD95 ligand
ALIAS_PROT: apoptosis (APO-1) antigen ligand 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2007
UNIGENE: Hs.2007
OMIM: 134638
MAP: 1q23|HUGO|C|
MAPLINK: default_human_gene|TNFSF6
REL2: 155871|NP_057853|Tat, p14|upregulates|NP_000630|apoptosis (APO-1) antigen ligand 1|HIV-1 Tat upregulates FasL expression by enhancing Egr-dependent and NF-kappaB mediated transactivation of the FasL promoter|11909874,10671224
REL2: 155871|NP_057853|Tat, p14|upregulates|NP_000630|apoptosis (APO-1) antigen ligand 1|HIV-1 Tat sensitizes T cells to CD95 mediated apoptosis through the upregulation of CD95 ligand and caspase 8|11909874,10671224,9971775,7539892
PHENOTYPE: Systemic lupus erythematosus, susceptibility
PHENOTYPE_ID: 152700
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=356
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=356[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:422178
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000639
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000639
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+356
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+356
DB_DESCR: KEGG pathway: Cytokine-cytokine receptor interaction
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04060+356
DB_DESCR: PharmGKB: PA56
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA56
PMID: 15093732,15042330,14996347,14988839,14739407,14739003,14705811,14669310,14668794,14634098,14625471,14602201,14560009,14534535,12930319,12928375,12923319,12918731,12854132,12849704,12807917,12803240,12794109,12787425,12783210,12761501,12742739,12742662,12717632,12710855,12707034,12700199,12698366,12651606,12637505,12629150,12618758,12594300,12583439,12559631,12557947,12515623,12513781,12507389,12490654,12482505,12482410,12477932,12464266,12454289,12421989,12414956,12414525,12393889,12372468,12208869,12161534,12137598,12113885,12100038,12021310,12021072,12009596,11994542,11970950,11965496,11961305,11925103,11909874,11908702,11895550,11882326,11856352,11845233,11830480,11809905,11801650,11788891,11786482,11751256,11739488,11716959,11500835,10671224,9971775,9022072,8910274,8787672,7980502,7826947,7566174,7539892,7528780
GO: biological process|apoptosis|IEA|GO:0006915|GOA|na
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|7826947
GO: cellular component|extracellular|IEA|GO:0005576|GOA|na
GO: biological process|immune response|IEA|GO:0006955|GOA|na
GO: biological process|induction of apoptosis|TAS|GO:0006917|GOA|8787672
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|7826947
GO: biological process|positive regulation of I-kappaB kinase/NF-kappaB cascade|IEP|GO:0043123|GOA|12761501
GO: biological process|signal transduction|TAS|GO:0007165|GOA|7826947
GO: molecular function|tumor necrosis factor receptor binding|IEA|GO:0005164|GOA|na
>>357
LOCUSID: 357
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001649|18375508|na
NP: NP_001640|4502175
CDD: pfam02591: Uncharacterized ACR, COG1579|3098|89|na|3.842250e+01
CDD: cd00992: PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements|27595|181|na|7.372830e+01
PRODUCT: apical protein of Xenopus-like
ASSEMBLY: X83543
CONTIG: NT_011757.13|37546406|na|5771140|5934125|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_001649|18375508|na
XP: NP_001640|4502175|na
ACCNUM: AC002365|2358015|na|na|na
TYPE: g
PROT: AAC32592|1773381|1
ACCNUM: X83543|790999|na|na|na
TYPE: m
PROT: CAA58534|1181628|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13796|2498147|0
OFFICIAL_SYMBOL: APXL
OFFICIAL_GENE_NAME: apical protein-like (Xenopus laevis)
ALIAS_SYMBOL: HSAPXL
PREFERRED_PRODUCT: apical protein of Xenopus-like
SUMMARY: Summary: The protein encoded by this gene shares significant similarities with the apical protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome.
CHR: X
STS: A007I24|X|79357|na|seq_map|epcr
STS: G49443|X|109186|na|seq_map|epcr
STS: GDB:599415|X|158145|na|seq_map|epcr
STS: GDB:599441|X|158152|na|seq_map|epcr
STS: GDB:599465|X|158158|na|seq_map|epcr
STS: GDB:599475|X|158160|na|seq_map|epcr
STS: GDB:599486|X|158161|na|seq_map|epcr
STS: GDB:599536|X|158170|na|seq_map|epcr
COMP: 18174|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A357[id]+AND+gene[obj_type]&QSTR=apxl&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: APX homolog of Xenopus
ALIAS_PROT: apical protein, Xenopus laevis-like
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2391
UNIGENE: Hs.2391
OMIM: 300103
MAP: Xp22.3|RefSeq|C|
MAPLINK: default_human_gene|APXL
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=357
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=357[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:582527
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001649
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001649
PMID: 7795590
GO: molecular function|amiloride-sensitive sodium channel activity|TAS|GO:0015280|GOA|7795590
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
>>358
LOCUSID: 358
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000385|37694060|na
NP: NP_000376|4502177
CDD: pfam00230: Major intrinsic protein|16670|642|na|2.512880e+02
PRODUCT: aquaporin 1
TRANSVAR: Transcript Variant: This variant (2) lacks a segment in the 3' UTR but encodes the same protein, compared to transcript variant 1.
ASSEMBLY: AU122128,BC022486,BI837828,U41517
NM: NM_198098|37694061|na
NP: NP_932766|37694062
CDD: pfam00230: Major intrinsic protein|16670|642|na|2.512880e+02
PRODUCT: aquaporin 1
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript variant.
ASSEMBLY: AU122128,BC022486,BI837828,S73482,U41517,U41518
CONTIG: NT_007819.14|37538470|na|30245076|30258739|+|7|reference
EVID: supported by alignment with mRNA
XM: NM_000385|37694060|na
XP: NP_000376|4502177|na
EVID: supported by alignment with mRNA
XM: NM_198098|37694061|na
XP: NP_932766|37694062|na
CONTIG: NT_079592.1|37538986|na|30347214|30360877|+|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_000385|37694060|na
XP: NP_000376|4502177|na
EVID: supported by alignment with mRNA
XM: NM_198098|37694061|na
XP: NP_932766|37694062|na
ACCNUM: AC004691|3135285|na|na|na
TYPE: g
PROT: AAC16481|3135286|1
ACCNUM: AC005155|3242760|na|na|na
TYPE: g
PROT: AAC23788|3242761|1
ACCNUM: AF480415|19387210|na|na|na
TYPE: g
PROT: AAL87136|19387211|1
ACCNUM: AU122128|10937363|na|na|na
TYPE: m
ACCNUM: BC022486|18490902|na|na|na
TYPE: m
PROT: AAH22486|18490903|1
ACCNUM: BI837828|15949378|na|na|na
TYPE: m
ACCNUM: M77829|180500|na|na|na
TYPE: m
PROT: AAA58425|180501|1
ACCNUM: S73482|688357|na|na|na
TYPE: m
PROT: AAB31193|688358|1
ACCNUM: U41517|1314303|na|na|na
TYPE: m
PROT: AAC50648|1314304|1
ACCNUM: U41518|1314305|na|na|na
TYPE: m
PROT: AAC50649|1314306|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P29972|267412|0
OFFICIAL_SYMBOL: AQP1
OFFICIAL_GENE_NAME: aquaporin 1 (channel-forming integral protein, 28kDa)
ALIAS_SYMBOL: CO
ALIAS_SYMBOL: CHIP28
ALIAS_SYMBOL: AQP-CHIP
ALIAS_SYMBOL: MGC26324
PREFERRED_PRODUCT: aquaporin 1
SUMMARY: Summary: Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Alternative splicing results in two transcript variants which encode the same protein.
CHR: 7
STS: WI-9113|7|1576|na|seq_map|epcr
STS: A007C48|7|22256|na|seq_map|epcr
STS: D7S2755|7|30673|D7S2755|seq_map|epcr
STS: D7S2041E|7|42447|D7S2041E|seq_map|epcr
STS: D7S2065E|7|48609|D7S2065E|seq_map|epcr
STS: STS-M77829|7|74097|na|seq_map|epcr
ALIAS_PROT: Colton blood group
ALIAS_PROT: Aquaporin-1 (channel-forming integral protein, 28kDa)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76152
UNIGENE: Hs.76152
OMIM: 107776
MAP: 7p14|HUGO|C|
MAPLINK: default_human_gene|AQP1
PHENOTYPE: Aquaporin-1 deficiency
PHENOTYPE_ID: 107776
PHENOTYPE: Blood group, Colton
PHENOTYPE_ID: 110450
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=358
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=358[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:129082
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/129082.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198098
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198098
DB_DESCR: Blood Group Antigen Gene Mutation Database
DB_LINK: http://www.bioc.aecom.yu.edu/bgmut/colton.htm
PMID: 14753494,14753493,14701836,14592814,12781664,12498798,12477932,12399631,12237771,12027013,12002613,11922632,11909995,11884383,8703970,8340403,7540589,7521882,7521540,7517546,7517253,3049610,1722319
GO: biological process|excretion|TAS|GO:0007588|GOA|1722319
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|1722319
GO: biological process|transport|IEA|GO:0006810|GOA|na
GO: biological process|water transport|TAS|GO:0006833|GOA|7521540
GO: molecular function|water transporter activity|TAS|GO:0005372|GOA|7521540
>>359
LOCUSID: 359
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000486|33624912|na
NP: NP_000477|4502179
CDD: pfam00230: Major intrinsic protein|16670|559|na|2.193160e+02
PRODUCT: aquaporin 2
ASSEMBLY: BC042496
CONTIG: NT_029419.10|29803948|na|12487835|12495970|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_000486|33624912|na
XP: NP_000477|4502179|na
ACCNUM: AF147093|14165376|na|na|na
TYPE: g
PROT: AAD38692|5052748|1
ACCNUM: D31846|567249|na|na|na
TYPE: g
PROT: BAA06632|567250|1
ACCNUM: Z29491|474058|na|na|na
TYPE: g
PROT: CAA82627|474059|1
ACCNUM: BC042496|27769001|na|na|na
TYPE: m
PROT: AAH42496|27769002|1
ACCNUM: S73196|685000|na|na|na
TYPE: m
PROT: AAB31999|685001|1
ACCNUM: S73197|684998|na|na|na
TYPE: m
PROT: AAB31998|684999|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P41181|728874|0
OFFICIAL_SYMBOL: AQP2
OFFICIAL_GENE_NAME: aquaporin 2 (collecting duct)
ALIAS_SYMBOL: AQP-CD
ALIAS_SYMBOL: WCH-CD
ALIAS_SYMBOL: MGC34501
PREFERRED_PRODUCT: aquaporin 2
SUMMARY: Summary: This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant, and recessive forms of nephrogenic diabetes insipidus.
CHR: 12
STS: STS-D31846|12|41469|na|seq_map|epcr
COMP: 20137|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A359[id]+AND+gene[obj_type]&QSTR=aqp2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aquaporin-CD
ALIAS_PROT: collecting duct water channel protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=130730
UNIGENE: Hs.130730
OMIM: 107777
MAP: 12q12-q13|RefSeq|C|
MAPLINK: default_human_gene|AQP2
PHENOTYPE: Diabetes insipidus, nephrogenic, autosomal dominant
PHENOTYPE_ID: 125800
PHENOTYPE: Diabetes insipidus, nephrogenic, autosomal recessive
PHENOTYPE_ID: 222000
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=359
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=359[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:141853
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/141853.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000486
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000486
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=107777
PMID: 14662748,14593099,12819016,12787389,12631357,12566732,12477932,12208541,12194985,12191971,12050236,12021537,11929850,11536078,11509828,9268644,8140421,7532304,7525161,7524315,7522228,7512890,7510718
GO: biological process|excretion|TAS|GO:0007588|GOA|7532304
GO: cellular component|integral to plasma membrane|NR|GO:0005887|GOA|na
GO: biological process|transport|IEA|GO:0006810|GOA|na
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
GO: molecular function|water channel activity|TAS|GO:0015250|GOA|7532304
GO: biological process|water transport|TAS|GO:0006833|GOA|8140421
>>360
LOCUSID: 360
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004925|22165421|na
NP: NP_004916|4826645
CDD: KOG0224: Aquaporin (major intrinsic protein family) [Carbohydrate transport and metabolism]|18020|984|na|3.830850e+02
PRODUCT: aquaporin 3
ASSEMBLY: BC013566,D50486
CONTIG: NT_008413.16|37540361|na|33431158|33437590|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_004925|22165421|na
XP: NP_004916|4826645|na
ACCNUM: D50486|961418|na|na|na
TYPE: g
PROT: BAA09077|4433117|1
ACCNUM: AB001325|1854373|na|na|na
TYPE: m
PROT: BAA19237|1854374|1
ACCNUM: AJ493597|25815122|na|na|na
TYPE: m
PROT: CAD38526|25815123|1
ACCNUM: AK095363|21754606|na|na|na
TYPE: m
ACCNUM: BC012988|33872360|na|na|na
TYPE: m
ACCNUM: BC013566|15488870|na|na|na
TYPE: m
PROT: AAH13566|15488871|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q92482|2497938|0
OFFICIAL_SYMBOL: AQP3
OFFICIAL_GENE_NAME: aquaporin 3
PREFERRED_PRODUCT: aquaporin 3
SUMMARY: Summary: Aquaporin 3 is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms.
CHR: 9
STS: SHGC-34032|9|12176|na|seq_map|epcr
STS: RH46411|9|43480|na|seq_map|epcr
STS: SGC34487|9|75854|na|seq_map|epcr
STS: RH46932|-|90610|na|na|epcr
STS: Aqp3|4;|186492|na|na|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=234642
UNIGENE: Hs.234642
OMIM: 600170
MAP: 9p13|HUGO|C|
MAPLINK: default_human_gene|AQP3
PHENOTYPE: Blood group GIL
PHENOTYPE_ID: 607457
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=360
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=360[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371718
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004925
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004925
PMID: 14702039,12773542,12477932,12239222,12234316,11918716,11751877,9558461,8641135,7558005,7543093
GO: biological process|excretion|TAS|GO:0007588|GOA|7543093
GO: cellular component|integral to plasma membrane|NR|GO:0005887|GOA|na
GO: cellular component|membrane fraction|NR|GO:0005624|GOA|na
GO: biological process|transport|NR|GO:0006810|GOA|7543093
GO: molecular function|transporter activity|NR|GO:0005215|GOA|7543093
>>361
LOCUSID: 361
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001650|50659061|na
NP: NP_001641|4502181
CDD: cd00333: Major intrinsic protein (MIP) superfamily|24161|520|na|2.042700e+02
PRODUCT: aquaporin 4 isoform a
TRANSVAR: Transcript Variant: This variant (a) represents the longer transcript, and encodes the longer isoform (a), also known as isoform M1.
ASSEMBLY: AK026728,AL138136,BC022286,BC030745,BC045780,BI667387,CD105892,CK001094,D63412,N50070,R35726
NM: NM_004028|50659062|na
NP: NP_004019|4755125
CDD: cd00333: Major intrinsic protein (MIP) superfamily|24161|504|na|1.981070e+02
PRODUCT: aquaporin 4 isoform b
TRANSVAR: Transcript Variant: This variant (b), also known as variant C2, has an alternate 5' sequence and utilizes downstream start codon, as compared to variant a. The resulting isoform (b), also known as isoform M23, has a shorter N-terminus when compared to isoform a.
ASSEMBLY: AK026728,AL138136,BC022286,BC030745,BC045780,CD105892,CK001094,D63412,N50070,R35726,U34845
CONTIG: NT_010966.13|29823167|na|5921109|5934803|-|18|reference
EVID: supported by alignment with mRNA
XM: NM_001650|50659061|na
XP: NP_001641|4502181|na
EVID: supported by alignment with mRNA
XM: NM_004028|50659062|na
XP: NP_004019|4755125|na
ACCNUM: AK026728|10439648|na|na|na
TYPE: m
ACCNUM: AL138136|6854817|na|na|na
TYPE: m
ACCNUM: BC022286|18490379|na|na|na
TYPE: m
PROT: AAH22286|18490380|1
ACCNUM: BC030745|22658356|na|na|na
TYPE: m
ACCNUM: BC045780|28277182|na|na|na
TYPE: m
ACCNUM: BI667387|15581620|na|na|na
TYPE: m
ACCNUM: CD105892|30759066|na|na|na
TYPE: m
ACCNUM: CK001094|38527128|na|na|na
TYPE: m
ACCNUM: D63412|1236245|na|na|na
TYPE: m
PROT: BAA09715|1236246|1
ACCNUM: N50070|1191236|na|na|na
TYPE: m
ACCNUM: R35726|792627|na|na|na
TYPE: m
ACCNUM: U34845|1072052|na|na|na
TYPE: m
PROT: AAC50284|1072053|1
ACCNUM: U63622|1680707|na|na|na
TYPE: m
PROT: AAB26957|1680708|1
ACCNUM: U63623|1680709|na|na|na
TYPE: m
PROT: AAB26958|1680710|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P55087|2506859|0
OFFICIAL_SYMBOL: AQP4
OFFICIAL_GENE_NAME: aquaporin 4
ALIAS_SYMBOL: MIWC
ALIAS_SYMBOL: HMIWC2
ALIAS_SYMBOL: MGC22454
PREFERRED_PRODUCT: aquaporin 4 isoform a
PREFERRED_PRODUCT: aquaporin 4 isoform b
SUMMARY: Summary: This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
CHR: 18
STS: A006W40|18|3912|na|seq_map|epcr
STS: D18S1195|18|42497|D18S1195|na|epcr
STS: A002Q03|18|56496|na|seq_map|epcr
STS: WI-13598|18|77734|na|seq_map|epcr
STS: SHGC-36589|18|83072|na|seq_map|epcr
STS: RH25921|18|85531|na|seq_map|epcr
STS: AQP4_717|-|277005|na|na|epcr
COMP: 20397|18|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=18&MAPS=genes-r-org/rat-chr/human%3A18,genes-r-org/mouse-chr/human%3A18,genes-r-org/human-chr18&query=e%3A361[id]+AND+gene[obj_type]&QSTR=aqp4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: mercurial-insensitive water channel
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=315369
UNIGENE: Hs.315369
OMIM: 600308
MAP: 18q11.2-q12.1|RefSeq|C|
MAPLINK: default_human_gene|AQP4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=361
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=361[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371722
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004028
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001650
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004028
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001650
PMID: 14753493,14627352,12715185,12477932,12107411,9824541,8855281,8601457,7559426,7528931
GO: biological process|excretion|TAS|GO:0007588|GOA|7528931
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|7528931
GO: biological process|neurogenesis|TAS|GO:0007399|GOA|7528931
GO: biological process|transport|TAS|GO:0006810|GOA|7559426
GO: molecular function|water channel activity|NR|GO:0015250|GOA|na
GO: molecular function|water transporter activity|TAS|GO:0005372|GOA|7559426
>>362
LOCUSID: 362
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001651|4502182|na
NP: NP_001642|4502183
CDD: KOG0223: Aquaporin (major intrinsic protein family) [Carbohydrate transport and metabolism]|18019|486|na|1.911870e+02
PRODUCT: aquaporin 5
ASSEMBLY: AH006636
CONTIG: NT_029419.10|29803948|na|12498585|12502266|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_001651|4502182|na
XP: NP_001642|4502183|na
ACCNUM: U46569|1314371|na|na|na
TYPE: g
PROT: AAC50474|1314373|1
ACCNUM: BC032946|21432082|na|na|na
TYPE: m
PROT: AAH32946|21432083|1
ACCNUM: BC034356|46255771|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P55064|1703358|0
OFFICIAL_SYMBOL: AQP5
OFFICIAL_GENE_NAME: aquaporin 5
PREFERRED_PRODUCT: aquaporin 5
SUMMARY: Summary: Aquaporin 5 (AQP5) is a water channel protein.  Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13.
CHR: 12
COMP: 20398|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A362[id]+AND+gene[obj_type]&QSTR=aqp5&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Aquaporin-5
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=298023
UNIGENE: Hs.298023
OMIM: 600442
MAP: 12q13|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600442">OMIM</a>|C|
MAPLINK: default_human_gene|AQP5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=362
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=362[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371724
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001651
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001651
PMID: 12477932,9268644,8621489
GO: biological process|excretion|TAS|GO:0007588|GOA|8621489
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8621489
GO: biological process|transport|IEA|GO:0006810|GOA|na
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
GO: molecular function|water channel activity|TAS|GO:0015250|GOA|8621489
GO: biological process|water transport|TAS|GO:0006833|GOA|8621489
>>363
LOCUSID: 363
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001652|16950629|na
NP: NP_001643|4502185
CDD: KOG0223: Aquaporin (major intrinsic protein family) [Carbohydrate transport and metabolism]|18019|508|na|1.996610e+02
PRODUCT: aquaporin 6 isoform 1
TRANSVAR: Transcript Variant: This variant (1) lacks two internal regions, which leads to a translation frame shift, as compared to variant 2. The resulted protein contains an identical N-terminus and a distinct 148 aa C-terminus, as compared to isoform 2.
ASSEMBLY: AL137716,U48408
NM: NM_053286|16950630|na
NP: NP_445738|16950631
CDD: KOG0223: Aquaporin (major intrinsic protein family) [Carbohydrate transport and metabolism]|18019|295|na|1.176130e+02
PRODUCT: aquaporin 6 isoform 2
TRANSVAR: Transcript Variant: This variant (2) contains two extra internal regions, which leads to a translation frame shift and an early termination, as compared to variant 1. The resulted protein contains an identical N-terminal 134 aa and a distinct 29 aa C-terminus, as compared to isoform 1.
ASSEMBLY: AL137716
CONTIG: NT_029419.10|29803948|na|12504283|12514228|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_001652|16950629|na
XP: NP_001643|4502185|na
EVID: supported by alignment with mRNA
XM: NM_053286|16950630|na
XP: NP_445738|16950631|na
ACCNUM: U48409|1293547|na|na|na
TYPE: g
PROT: AAB41567|1293548|1
ACCNUM: AL137716|6808132|na|na|na
TYPE: m
PROT: CAB70889|6808133|1
ACCNUM: BC065275|40850871|na|na|na
TYPE: m
ACCNUM: U48408|1293545|na|na|na
TYPE: m
PROT: AAB41566|1293546|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13520|2497939|0
OFFICIAL_SYMBOL: AQP6
OFFICIAL_GENE_NAME: aquaporin 6, kidney specific
ALIAS_SYMBOL: AQP2L
PREFERRED_PRODUCT: aquaporin 6 isoform 1
PREFERRED_PRODUCT: aquaporin 6 isoform 2
SUMMARY: Summary: The protein encoded by this gene is an Aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and other three members of Aquaproin AQP0, AQP2, and AQP5 are closely related and all map to 12q13. Two alternatively spliced transcript variants of this gene have been reported.
CHR: 12
STS: RH98915|12|92312|na|seq_map|epcr
STS: RH98744|12|92791|na|seq_map|epcr
COMP: 20399|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A363[id]+AND+gene[obj_type]&QSTR=aqp6&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Aquaporin-6, kidney specific
ALIAS_PROT: aquaporin 2-like, kidney specific
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54505
UNIGENE: Hs.54505
OMIM: 601383
MAP: 12q13|RefSeq|C|
MAPLINK: default_human_gene|AQP6
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=363
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=363[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:3801882
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_053286
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_053286
PMID: 12477932,12177001,9268644,8812490
GO: biological process|excretion|TAS|GO:0007588|GOA|8812490
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8812490
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: biological process|transport|IEA|GO:0006810|GOA|8812490
GO: biological process|transport|TAS|GO:0006810|GOA|8812490
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
GO: molecular function|water channel activity|TAS|GO:0015250|GOA|8812490
>>364
LOCUSID: 364
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001170|4502186|na
NP: NP_001161|4502187
CDD: KOG0224: Aquaporin (major intrinsic protein family) [Carbohydrate transport and metabolism]|18020|957|na|3.726850e+02
PRODUCT: aquaporin 7
ASSEMBLY: AB006190
CONTIG: NT_008413.16|37540361|na|33374948|33392517|-|9|reference
EVID: supported by alignment with mRNA
XM: NM_001170|4502186|na
XP: NP_001161|4502187|na
ACCNUM: AB052626|21912982|na|na|na
TYPE: g
PROT: BAC05693|21912983|1
ACCNUM: AB006190|2317273|na|na|na
TYPE: m
PROT: BAA21745|2317274|1
ACCNUM: BC062701|38540940|na|na|na
TYPE: m
PROT: AAH62701|38540941|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O14520|3121761|0
ACCNUM: AK055744|na|na|na|na
TYPE: u
OFFICIAL_SYMBOL: AQP7
OFFICIAL_GENE_NAME: aquaporin 7
ALIAS_SYMBOL: AQP9
ALIAS_SYMBOL: AQP7L
ALIAS_SYMBOL: AQPap
PREFERRED_PRODUCT: aquaporin 7
SUMMARY: Summary: Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, glycerol and urea transport. It may play an important role in sperm function.
CHR: 9
STS: RH64915|-|86839|na|na|epcr
STS: G43491|-|94951|na|na|epcr
COMP: 20316|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A364[id]+AND+gene[obj_type]&QSTR=aqp7&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aquaporin adipose
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=455323
UNIGENE: Hs.455323
OMIM: 602974
MAP: 9p13|RefSeq|C|
MAPLINK: default_human_gene|AQP7
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=364
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=364[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6044880
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001170
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001170
PMID: 14702039,12477932,11952783,9714739,9405233,9252401
GO: biological process|energy pathways|TAS|GO:0006091|GOA|9405233
GO: biological process|excretion|TAS|GO:0007588|GOA|9405233
GO: molecular function|glycerol channel activity|TAS|GO:0015254|GOA|9405233
GO: biological process|glycerol transport|TAS|GO:0015793|GOA|9405233
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9405233
GO: biological process|transport|IEA|GO:0006810|GOA|na
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
GO: molecular function|water channel activity|TAS|GO:0015250|GOA|9405233
GO: biological process|water transport|TAS|GO:0006833|GOA|9405233
>>365
LOCUSID: 365
CURRENT_LOCUSID: 364
ORGANISM: Homo sapiens
>>366
LOCUSID: 366
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_020980|11038652|na
NP: NP_066190|10280624
CDD: KOG0224: Aquaporin (major intrinsic protein family) [Carbohydrate transport and metabolism]|18020|944|na|3.676770e+02
PRODUCT: aquaporin 9
ASSEMBLY: AF016495,AF102870
CONTIG: NT_010194.16|37540936|na|29221036|29268666|+|15|reference
EVID: supported by alignment with mRNA
XM: NM_020980|11038652|na
XP: NP_066190|10280624|na
ACCNUM: AF102870|6759670|na|na|na
TYPE: g
PROT: AAF27983|6759671|1
ACCNUM: AB008775|2887406|na|na|na
TYPE: m
PROT: BAA24864|2887407|1
ACCNUM: AF016495|6560598|na|na|na
TYPE: m
PROT: AAF16677|6560599|1
ACCNUM: BC026258|20071171|na|na|na
TYPE: m
PROT: AAH26258|20071172|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O43315|3913082|0
OFFICIAL_SYMBOL: AQP9
OFFICIAL_GENE_NAME: aquaporin 9
ALIAS_SYMBOL: SSC1
ALIAS_SYMBOL: HsT17287
PREFERRED_PRODUCT: aquaporin 9
SUMMARY: Summary: The aquaporins/major intrinsic protein are a family of water-selective membrane channels. Aquaporin 9 has greater sequence similarity with AQP3 and AQP7 and they may be a subfamily. Aquaporin 9 allows passage of a wide variety of noncharged solutes. AQP9 stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. Aquaporin 9 may also have some role in specialized leukocyte functions such as immunological response and bactericidal activity.
CHR: 15
STS: RH98507|15|84065|na|seq_map|epcr
STS: PMC61180P1|-|273414|na|na|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=104624
UNIGENE: Hs.104624
OMIM: 602914
MAP: 15q22.1-22.2|RefSeq|C|
MAPLINK: default_human_gene|AQP9
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=366
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=366[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6860465
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020980
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020980
PMID: 12477932,10564231,9733774,9514918
GO: biological process|immune response|TAS|GO:0006955|GOA|9514918
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9514918
GO: biological process|transport|TAS|GO:0006810|GOA|9514918
GO: molecular function|transporter activity|IEA|GO:0005215|GOA|na
GO: molecular function|water channel activity|TAS|GO:0015250|GOA|9514918
GO: biological process|water transport|TAS|GO:0006833|GOA|9514918
>>367
LOCUSID: 367
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000044|21322251|na
NP: NP_000035|21322252
CDD: pfam02166: Androgen receptor|6642|1361|na|5.287180e+02
CDD: pfam00105: Zinc finger, C4 type (two domains)|22905|311|na|1.238030e+02
CDD: pfam00104: Ligand-binding domain of nuclear hormone receptor|22904|345|na|1.370210e+02
PRODUCT: androgen receptor
ASSEMBLY: AF321915,M20132,M23263
CONTIG: NT_011669.14|37546327|na|5081862|5262107|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_000044|21322251|na
XP: NP_000035|21322252|na
ACCNUM: M27430|178904|na|na|na
TYPE: g
PROT: AAA51886|178906|1
ACCNUM: M35851|178880|na|na|na
TYPE: g
PROT: AAA51772|178882|1
ACCNUM: M58158|179025|na|na|na
TYPE: g
PROT: AAA51778|179026|1
ACCNUM: S79366|244213|na|na|na
TYPE: g
PROT: AAB21256|8176541|2
ACCNUM: S79368|244215|na|na|na
TYPE: g
PROT: AAB21257|8176542|2
ACCNUM: U16371|642483|na|na|na
TYPE: g
PROT: AAB60346|642484|1
ACCNUM: AF162704|5639998|na|na|na
TYPE: m
PROT: AAD45921|5639999|1
ACCNUM: AF321914|12958716|na|na|na
TYPE: m
PROT: AAK09423|12958717|1
ACCNUM: AF321915|12958718|na|na|na
TYPE: m
PROT: AAK09424|12958719|1
ACCNUM: AF321916|12958720|na|na|na
TYPE: m
PROT: AAK09425|12958721|1
ACCNUM: AF321917|12958722|na|na|na
TYPE: m
PROT: AAK09426|12958723|1
ACCNUM: L29496|460280|na|na|na
TYPE: m
PROT: AAA51770|460281|1
ACCNUM: M20132|178627|na|na|na
TYPE: m
PROT: AAA51729|178628|1
ACCNUM: M20260|178891|na|na|na
TYPE: m
PROT: AAA51774|178892|1
ACCNUM: M21748|178871|na|na|na
TYPE: m
PROT: AAA51771|178872|1
ACCNUM: M23263|178893|na|na|na
TYPE: m
PROT: AAA51775|178894|1
ACCNUM: M34233|179033|na|na|na
TYPE: m
PROT: AAA51780|179034|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P10275|113830|0
OFFICIAL_SYMBOL: AR
OFFICIAL_GENE_NAME: androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
ALIAS_SYMBOL: KD
ALIAS_SYMBOL: AIS
ALIAS_SYMBOL: TFM
ALIAS_SYMBOL: DHTR
ALIAS_SYMBOL: SBMA
ALIAS_SYMBOL: NR3C4
ALIAS_SYMBOL: SMAX1
ALIAS_SYMBOL: HUMARA
PREFERRED_PRODUCT: androgen receptor
SUMMARY: Summary: The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS).
CHR: X
STS: STS-M20132|X|27060|na|seq_map|epcr
STS: DXS7498|X|38944|DXS7498|seq_map|epcr
STS: DXS9736|X|49952|DXS9736|seq_map|epcr
STS: GDB:600694|X|99252|na|seq_map|epcr
STS: GDB:197027|X|99693|na|seq_map|epcr
STS: G64115|X|146715|na|seq_map|epcr
STS: G64116|X|146716|na|seq_map|epcr
STS: GDB:176286|X|154787|na|seq_map|epcr
STS: GDB:176287|X|154788|na|seq_map|epcr
STS: GDB:185508|X|155454|na|seq_map|epcr
STS: GDB:188670|X|155574|na|seq_map|epcr
STS: GDB:196546|X|155864|na|seq_map|epcr
STS: GDB:511610|X|157514|na|seq_map|epcr
STS: G64286|X|158668|na|seq_map|epcr
STS: PMC137585P1|-|270846|na|na|epcr
STS: PMC20963P1|-|272005|na|na|epcr
STS: PMC20963P2|-|272006|na|na|epcr
STS: PMC20963P3|-|272007|na|na|epcr
COMP: 28|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A367[id]+AND+gene[obj_type]&QSTR=ar&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: dihydrotestosterone receptor
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99915
UNIGENE: Hs.99915
OMIM: 313700
MAP: Xq11.2-q12|HUGO|C|
MAPLINK: default_human_gene|AR
PHENOTYPE: Androgen insensitivity
PHENOTYPE_ID: 300068
PHENOTYPE: Breast cancer, male, with Reifenstein syndrome
PHENOTYPE_ID: 313700
PHENOTYPE: Perineal hypospadias
PHENOTYPE_ID: 313700
PHENOTYPE: Prostate cancer
PHENOTYPE_ID: 313700
PHENOTYPE: Prostate cancer, susceptibility to
PHENOTYPE_ID: 176807
PHENOTYPE: Spinal and bulbar muscular atrophy of Kennedy
PHENOTYPE_ID: 313200
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=367
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=367[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120556
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/120556.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000044
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000044
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=313200
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=313700
DB_DESCR: The Androgen Receptor Mutation Database
DB_LINK: http://www.mcgill.ca/androgendb/
DB_DESCR: Integrated X Chromosome Database (IXDB)
DB_LINK: http://ixdb.mpimg-berlin-dahlem.mpg.de/bin/ixdbcmd.cgi?cmd=showObj&id=9501
PMID: 15062556,15053245,15046097,15023052,14999487,14985354,14981536,14974091,14968432,14966297,14966121,14744796,14743468,14698481,14668339,14667136,14662770,14645241,14641003,14627807,14612401,14573323,14517289,14511406,14511213,14504193,12970746,12949936,12933816,12925954,12923188,12908100,12895004,12890669,12877254,12860943,12843184,12843171,12824190,12810069,12804609,12799378,12788064,12779088,12775722,12771131,12767946,12755998,12714604,12682292,12651911,12649062,12648179,12637980,12634316,12593895,12591938,12586762,12582022,12573820,12569365,12559985,12534937,12532336,12514133,12499384,12482965,12481545,12465595,12441355,12399527,12394768,12376473,12372281,12226080,12218053,12213902,12163482,12161011,12161010,12124798,12119296,12115497,12111704,12089361,12085360,12083956,12061774,12051960,12050225,12039962,12031042,12015328,12011088,11981028,11971970,11971763,11967956,11931767,11927493,11923466,11906285,11903314,11896058,11889162,11875111,11856748,11845321,11818512,11818501,11804942,11779876,11774215,11751884,11751688,11720249,11587068,11474658,11456479,11389183,10840043,10835690,10075738,3377788,3353727,3353726,3216866,3174628,2911578,2594783,2380187,2342476,2293020,2062380,1775137
GO: molecular function|androgen binding|NAS|GO:0005497|GOA|10075738
GO: molecular function|androgen receptor activity|IEA|GO:0004882|GOA|10075738
GO: molecular function|androgen receptor activity|NAS|GO:0004882|GOA|10075738
GO: biological process|cell proliferation|NAS|GO:0008283|GOA|10075738
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|10835690
GO: cellular component|nucleus|NR|GO:0005634|GOA|na
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|prostate gland development|NAS|GO:0030850|GOA|10075738
GO: molecular function|protein dimerization activity|NAS|GO:0046983|GOA|10075738
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: biological process|sex differentiation|NAS|GO:0007548|GOA|10075738
GO: biological process|signal transduction|TAS|GO:0007165|GOA|10835690
GO: molecular function|steroid binding|IEA|GO:0005496|GOA|na
GO: molecular function|transcription factor activity|IEA|GO:0003700|GOA|na
GO: biological process|transport|TAS|GO:0006810|GOA|10835690
>>368
LOCUSID: 368
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001171|6715560|na
NP: NP_001162|6715561
CDD: pfam00664: ABC transporter transmembrane region|23060|233|na|9.383360e+01
CDD: cd00267: ABC (ATP-binding cassette) transporter nucleotide-binding domain|5341|238|na|9.564850e+01
CDD: KOG0054: Multidrug resistance-associated protein/mitoxantrone resistance protein, ABC superfamily [Secondary metabolites biosynthesis, transport and catabolism]|17852|3460|na|1.336820e+03
PRODUCT: ATP-binding cassette, sub-family C, member 6
ASSEMBLY: AF076622
CONTIG: NT_010393.14|37541485|na|7556124|7629448|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_001171|6715560|na
XP: NP_001162|6715561|na
ACCNUM: U91318|1871197|na|na|na
TYPE: g
PROT: AAC15785|3108185|1
ACCNUM: AF076622|3928848|na|na|na
TYPE: m
PROT: AAC79696|3928849|1
ACCNUM: AF168791|5764414|na|na|na
TYPE: m
PROT: AAD51293|5764415|1
ACCNUM: AY078405|19221233|na|na|na
TYPE: m
PROT: AAL83711|19221234|1
ACCNUM: BC015978|16359027|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O95255|7387892|0
OFFICIAL_SYMBOL: ABCC6
OFFICIAL_GENE_NAME: ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ALIAS_SYMBOL: ARA
ALIAS_SYMBOL: PXE
ALIAS_SYMBOL: MLP1
ALIAS_SYMBOL: MRP6
ALIAS_SYMBOL: ABC34
ALIAS_SYMBOL: MOATE
ALIAS_SYMBOL: EST349056
PREFERRED_PRODUCT: ATP-binding cassette, sub-family C, member 6
SUMMARY: Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not yet been fully described.
CHR: 16
STS: RH70947|-|3042|na|na|epcr
STS: STS-X95715|-|26409|na|na|epcr
STS: A007L01|16|58824|na|na|epcr
STS: RH66504|-|89232|na|na|epcr
STS: RH103419|-|97744|na|na|epcr
COMP: 20317|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A368[id]+AND+gene[obj_type]&QSTR=abcc6&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: anthracycline resistance-associated
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442182
UNIGENE: Hs.442182
OMIM: 603234
MAP: 16p13.1|RefSeq|C|
MAPLINK: default_human_gene|ABCC6
PHENOTYPE: Pseudoxanthoma elasticum, autosomal dominant
PHENOTYPE_ID: 177850
PHENOTYPE: Pseudoxanthoma elasticum, autosomal recessive
PHENOTYPE_ID: 264800
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=368
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=368[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9315106
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001171
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001171
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.191+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=603234
DB_DESCR: Human ABC-Transporter Proteins
DB_LINK: http://www.humanabc.org
DB_DESCR: Retina International ABCC6 Mutation Database
DB_LINK: http://www.retina-international.com/sci-news/abcc6mut.htm
PMID: 12901863,12850230,12714611,12673275,12477932,12176944,11880368,11536079,11439001,11431746,10835642,10493829,10424734,9892204,9721217,8912525,8894702
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|8912525
GO: molecular function|ATP binding|TAS|GO:0005524|GOA|8912525
GO: molecular function|ATP-binding cassette (ABC) transporter activity|NAS|GO:0004009|GOA|8912525
GO: molecular function|ATP-binding cassette (ABC) transporter activity|TAS|GO:0004009|GOA|8912525
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|8912525
GO: cellular component|integral to membrane|NAS|GO:0016021|GOA|8912525
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|10835642
GO: molecular function|nucleotide binding|IEA|GO:0000166|GOA|na
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|10835642
GO: biological process|response to drug|TAS|GO:0042493|GOA|8912525
GO: biological process|transport|NAS|GO:0006810|GOA|8912525
GO: biological process|transport|TAS|GO:0006810|GOA|8912525
GO: molecular function|transporter activity|TAS|GO:0005215|GOA|8912525
GO: biological process|visual perception|IEA|GO:0007601|GOA|na
>>369
LOCUSID: 369
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001654|4502192|na
NP: NP_001645|4502193
CDD: pfam00069: Protein kinase domain|22891|580|na|2.274550e+02
CDD: pfam02196: Raf-like Ras-binding domain|2711|223|na|8.992160e+01
CDD: pfam00130: Phorbol esters/diacylglycerol binding domain (C1 domain)|22920|159|na|6.537230e+01
CDD: KOG0193: Serine/threonine protein kinase RAF [Signal transduction mechanisms]|17989|2157|na|8.350100e+02
PRODUCT: v-raf murine sarcoma 3611 viral oncogene homolog 1
ASSEMBLY: L24038
CONTIG: NT_011568.13|37546162|na|3829897|3840689|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_001654|4502192|na
XP: NP_001645|4502193|na
ACCNUM: L24038|508473|na|na|na
TYPE: g
PROT: AAA65219|780127|1
ACCNUM: U01337|1405976|na|na|na
TYPE: g
PROT: AAB03517|1405977|1
ACCNUM: AK130043|34526777|na|na|na
TYPE: m
ACCNUM: BC002466|33876716|na|na|na
TYPE: m
PROT: AAH02466|12803301|1
ACCNUM: BC007514|33873662|na|na|na
TYPE: m
PROT: AAH07514|13960149|1
ACCNUM: M13829|189999|na|na|na
TYPE: m
PROT: AAB08754|387023|1
ACCNUM: X04790|28820|na|na|na
TYPE: m
PROT: CAA28476|1340152|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P10398|1730068|0
OFFICIAL_SYMBOL: ARAF1
OFFICIAL_GENE_NAME: v-raf murine sarcoma 3611 viral oncogene homolog 1
ALIAS_SYMBOL: PKS2
ALIAS_SYMBOL: A-RAF
ALIAS_SYMBOL: RAFA1
PREFERRED_PRODUCT: v-raf murine sarcoma 3611 viral oncogene homolog 1
CHR: X
STS: WI-6972|X|18142|na|seq_map|epcr
STS: SGC30176|X|47359|na|seq_map|epcr
STS: STS-M13829|X|72051|na|seq_map|epcr
STS: G23742|X|73050|na|seq_map|epcr
STS: RH93525|-|85565|na|na|epcr
STS: RH79877|-|89581|na|na|epcr
STS: RH79745|-|92291|na|na|epcr
COMP: 1249|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A369[id]+AND+gene[obj_type]&QSTR=araf1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Oncogene ARAF1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446641
UNIGENE: Hs.446641
OMIM: 311010
ECNUM: 2.7.1.-
MAP: Xp11.4-p11.2|RefSeq|C|
MAPLINK: default_human_gene|ARAF1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=369
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119004
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001654
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001654
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+369
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+369
DB_DESCR: KEGG pathway: Inositol phosphate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00562+369
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+369
DB_DESCR: KEGG pathway: Integrin-mediated cell adhesion
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04510+369
DB_DESCR: KEGG pathway: Porphyrin and chlorophyll metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00860+369
DB_DESCR: KEGG pathway: Benzoate degradation via CoA ligation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00632+369
DB_DESCR: KEGG pathway: Nicotinate and nicotinamide metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00760+369
PMID: 14688025,14684750,12477932,11952167,8621729,8020955,3529082,3029685,2717185
GO: molecular function|ATP binding|NAS|GO:0005524|GOA|na
GO: biological process|cell growth and/or maintenance|IEA|GO:0008151|GOA|na
GO: cellular component|cellular_component unknown|ND|GO:0008372|GOA|na
GO: molecular function|diacylglycerol binding|IEA|GO:0019992|GOA|na
GO: biological process|intracellular signaling cascade|IEA|GO:0007242|GOA|na
GO: biological process|protein amino acid phosphorylation|NAS|GO:0006468|GOA|na
GO: molecular function|protein serine/threonine kinase activity|NAS|GO:0004674|GOA|na
GO: molecular function|receptor signaling protein activity|IEA|GO:0005057|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>370
LOCUSID: 370
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001074|29789826|na|10|198
CONTIG: NT_007758.10|29795292|na|898274|898464|-|7|na
EVID: alignment with NG_001074
XG: NG_001074|29789826|na
CONTIG: NT_079593.1|37539049|na|896745|896935|-|7|na
EVID: alignment with NG_001074
XG: NG_001074|29789826|na
ACCNUM: L24037|508474|na|10|198
TYPE: g
OFFICIAL_SYMBOL: ARAFPS
OFFICIAL_GENE_NAME: v-raf murine sarcoma 3611 viral oncogene homolog pseudogene
ALIAS_SYMBOL: PKS1
ALIAS_SYMBOL: ARAF2
ALIAS_SYMBOL: ARAF2P
CHR: 7
STS: ARAF2|-|78268|ARAF2|na|epcr
ALIAS_PROT: v-raf murine sarcoma 3611 viral oncogene homolog 2, pseudogene
ECNUM: 2.7.1.-
MAP: 7p12-q11.21|RefSeq|C|
MAPLINK: default_human_gene|ARAFPS
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=370
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119005
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+370
DB_DESCR: KEGG pathway: Inositol phosphate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00562+370
DB_DESCR: KEGG pathway: Starch and sucrose metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00500+370
DB_DESCR: KEGG pathway: Porphyrin and chlorophyll metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00860+370
DB_DESCR: KEGG pathway: Nicotinate and nicotinamide metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00760+370
PMID: 8020955,2717185,1505215
>>371
LOCUSID: 371
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ARCN2
OFFICIAL_GENE_NAME: archain 2
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:377807
>>372
LOCUSID: 372
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001655|21626463|na
NP: NP_001646|11863154
CDD: pfam00928: Adaptor complexes medium subunit family|16852|103|na|4.369800e+01
CDD: KOG0937: Adaptor complexes medium subunit family [Intracellular trafficking, secretion, and vesicular transport]|18730|87|na|3.756860e+01
CDD: KOG2635: Medium subunit of clathrin adaptor complex [Intracellular trafficking, secretion, and vesicular transport]|20421|1797|na|6.963660e+02
PRODUCT: archain
ASSEMBLY: BI560739,BQ018687,X81197,X81198
CONTIG: NT_033899.6|37540935|na|21986898|22017432|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001655|21626463|na
XP: NP_001646|11863154|na
ACCNUM: BC064936|40675521|na|na|na
TYPE: m
PROT: AAH64936|40675522|1
ACCNUM: BI560739|15448053|na|na|na
TYPE: m
ACCNUM: BQ018687|19753964|na|na|na
TYPE: m
ACCNUM: BX640860|34365145|na|na|na
TYPE: m
PROT: CAE45922|34365146|1
ACCNUM: X81197|773572|na|na|na
TYPE: m
PROT: CAA57071|773573|1
ACCNUM: X81198|773574|na|na|na
TYPE: m
PROT: CAA57072|773575|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P48444|1351970|0
OFFICIAL_SYMBOL: ARCN1
OFFICIAL_GENE_NAME: archain 1
ALIAS_SYMBOL: COPD
PREFERRED_PRODUCT: archain
SUMMARY: Summary: This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking.
CHR: 11
STS: HSC26A042|11|6799|na|seq_map|epcr
STS: WI-12394|11|34747|na|seq_map|epcr
STS: G62126|11|139186|na|seq_map|epcr
ALIAS_PROT: coatomer protein delta-COP
ALIAS_PROT: archain vesicle transport protein 1
ALIAS_PROT: coatomer protein complex, subunit delta
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=33642
UNIGENE: Hs.33642
OMIM: 600820
MAP: 11q23.3|HUGO|C|
MAPLINK: default_human_gene|ARCN1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=372
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=372[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:377806
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9957157
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001655
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001655
DB_DESCR: PharmGKB: PA24931
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24931
PMID: 12477932,8854871,7782067
GO: cellular component|Golgi apparatus|IEA|GO:0005794|GOA|na
GO: biological process|intracellular protein transport|TAS|GO:0006886|GOA|7782067
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
>>373
LOCUSID: 373
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001656|44955890|na
NP: NP_001647|4502197
CDD: smart00184: Ring finger|24213|90|na|3.898850e+01
CDD: cd00021: B-Box-type zinc finger|14765|88|na|3.796550e+01
CDD: smart00502: B-Box C-terminal domain|454|226|na|9.105810e+01
CDD: smart00177: ARF-like small GTPases|14910|592|na|2.322300e+02
CDD: cd00154: Rab subfamily of small GTPases|5377|151|na|6.205170e+01
PRODUCT: ADP-ribosylation factor domain protein 1 isoform alpha
TRANSVAR: Transcript Variant: This variant (alpha) encodes the longest isoform. It has a unique C-terminus compared to isoforms beta and gamma of this protein.
ASSEMBLY: BC022510,BI859501,L04510
NM: NM_033227|44955897|na
NP: NP_150230|15208641
CDD: smart00184: Ring finger|24213|88|na|3.821810e+01
CDD: cd00021: B-Box-type zinc finger|14765|87|na|3.758030e+01
CDD: smart00502: B-Box C-terminal domain|454|223|na|8.990250e+01
CDD: cd00154: Rab subfamily of small GTPases|5377|151|na|6.205170e+01
CDD: pfam00025: ADP-ribosylation factor family|16586|648|na|2.535770e+02
PRODUCT: ADP-ribosylation factor domain protein 1 isoform beta
TRANSVAR: Transcript Variant: This variant (beta) is alternatively spliced near the 3' end of the coding region. This introduces a frameshift and the encoded isoform beta has a unique C-terminus compared to  isoforms alpha and gamma.
ASSEMBLY: AF230398,BC022510,BI859501
NM: NM_033228|44955904|na
NP: NP_150231|15208643
CDD: smart00184: Ring finger|24213|87|na|3.783290e+01
CDD: cd00021: B-Box-type zinc finger|14765|86|na|3.719510e+01
CDD: smart00502: B-Box C-terminal domain|454|222|na|8.951730e+01
CDD: cd00154: Rab subfamily of small GTPases|5377|151|na|6.205170e+01
PRODUCT: ADP-ribosylation factor domain protein 1 isoform gamma
TRANSVAR: Transcript Variant: This variant (gamma) is alternatively spliced near the 3' end of the coding region. This introduces a frameshift and the encoded isoform gamma has a unique C-terminus compared to isoforms alpha and beta.
ASSEMBLY: AF230399,BC022510,BI859501
CONTIG: NT_006431.13|29798426|na|15450539|15484865|-|5|reference
EVID: supported by alignment with mRNA
XM: NM_001656|44955890|na
XP: NP_001647|4502197|na
EVID: supported by alignment with mRNA
XM: NM_033227|44955897|na
XP: NP_150230|15208641|na
EVID: supported by alignment with mRNA
XM: NM_033228|44955904|na
XP: NP_150231|15208643|na
ACCNUM: AF230397|12275882|na|na|na
TYPE: m
PROT: AAG50176|12275883|1
ACCNUM: AF230398|12275884|na|na|na
TYPE: m
PROT: AAG50177|12275885|1
ACCNUM: AF230399|12275886|na|na|na
TYPE: m
PROT: AAG50178|12275887|1
ACCNUM: BC022510|18490295|na|na|na
TYPE: m
PROT: AAH22510|18490296|1
ACCNUM: BI859501|16000248|na|na|na
TYPE: m
ACCNUM: L04510|292069|na|na|na
TYPE: m
PROT: AAA35940|292070|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P36406|543839|0
OFFICIAL_SYMBOL: TRIM23
OFFICIAL_GENE_NAME: tripartite motif-containing 23
ALIAS_SYMBOL: ARD1
ALIAS_SYMBOL: ARFD1
ALIAS_SYMBOL: RNF46
PREFERRED_PRODUCT: ADP-ribosylation factor domain protein 1 isoform alpha
PREFERRED_PRODUCT: ADP-ribosylation factor domain protein 1 isoform beta
PREFERRED_PRODUCT: ADP-ribosylation factor domain protein 1 isoform gamma
SUMMARY: Summary: The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described.
CHR: 5
STS: G15935|5|4615|na|seq_map|epcr
STS: D5S2370|5|57733|D5S2370|seq_map|epcr
STS: WI-19308|5|57956|na|seq_map|epcr
STS: RH66561|5|83399|na|seq_map|epcr
STS: RH41109|5|85065|na|seq_map|epcr
COMP: 1251|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A373[id]+AND+gene[obj_type]&QSTR=trim23&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ARF domain protein 1
ALIAS_PROT: GTP-binding protein ARD-1
ALIAS_PROT: tripartite motif protein TRIM23
ALIAS_PROT: ADP-ribosylation factor domain protein 1, 64kDa
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=792
UNIGENE: Hs.792
OMIM: 601747
MAP: 5q12.3|RefSeq|C|
MAPLINK: default_human_gene|TRIM23
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=373
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=373[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:139213
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001656
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001656
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+373
PMID: 12477932,11331580,10982851,9671726,9446556,9312116,8473324
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|8473324
GO: molecular function|enzyme activator activity|TAS|GO:0008047|GOA|8473324
GO: biological process|protein ubiquitination|IEA|GO:0016567|GOA|na
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
GO: cellular component|ubiquitin ligase complex|IEA|GO:0000151|GOA|na
GO: molecular function|ubiquitin-protein ligase activity|IEA|GO:0004842|GOA|na
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>374
LOCUSID: 374
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001657|22035683|na
NP: NP_001648|4502199
PRODUCT: amphiregulin preproprotein
ASSEMBLY: BC009799
CONTIG: NT_006216.14|29791409|na|3817863|3827736|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_001657|22035683|na
XP: NP_001648|4502199|na
ACCNUM: AY442340|37953278|na|na|na
TYPE: g
PROT: AAR05438|37953279|1
ACCNUM: M30698|178883|na|na|na
TYPE: g
PROT: AAA51773|178890|1
ACCNUM: M30699|178884|na|na|na
TYPE: g
PROT: AAA51773|178890|1
ACCNUM: M30700|178885|na|na|na
TYPE: g
PROT: AAA51773|178890|1
ACCNUM: M30701|178886|na|na|na
TYPE: g
PROT: AAA51773|178890|1
ACCNUM: M30702|178887|na|na|na
TYPE: g
PROT: AAA51773|178890|1
ACCNUM: M30703|178888|na|na|na
TYPE: g
ACCNUM: BC009799|14602574|na|na|na
TYPE: m
PROT: AAH09799|14602575|1
ACCNUM: M30704|179039|na|na|na
TYPE: m
PROT: AAA51781|179040|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P15514|113754|0
OFFICIAL_SYMBOL: AREG
OFFICIAL_GENE_NAME: amphiregulin (schwannoma-derived growth factor)
ALIAS_SYMBOL: AR
ALIAS_SYMBOL: SDGF
ALIAS_SYMBOL: CRDGF
ALIAS_SYMBOL: MGC13647
PREFERRED_PRODUCT: amphiregulin preproprotein
SUMMARY: Summary: The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells, and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). This protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells and inhibits the growth of certain aggressive carcinoma cell lines. This encoded protein is associated with a psoriasis-like skin phenotype.
CHR: 4
STS: SHGC-59548|4|43013|na|seq_map|epcr
STS: D4S3138|4|56996|D4S3138|seq_map|epcr
STS: SHGC-50815|4|80168|na|seq_map|epcr
COMP: 1252|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A374[id]+AND+gene[obj_type]&QSTR=areg&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: schwannoma-derived growth factor
ALIAS_PROT: colorectum cell-derived growth factor
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=270833
UNIGENE: Hs.270833
OMIM: 104640
MAP: 4q13-q21|HUGO|C|
MAPLINK: default_human_gene|AREG
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=374
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=374[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119697
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001657
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001657
PMID: 14633617,12743035,12711607,12568494,12477932,12356750,11859273,11719440,9410906,3413110,2466334,2325643,2234093,2017164,1333777
GO: biological process|cell proliferation|TAS|GO:0008283|GOA|2466334
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|2466334
GO: molecular function|cytokine activity|IEA|GO:0005125|GOA|na
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|3413110
GO: molecular function|growth factor activity|TAS|GO:0008083|GOA|2466334
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
>>375
LOCUSID: 375
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001658|6995997|na
NP: NP_001649|4502201
CDD: smart00177: ARF-like small GTPases|14910|893|na|3.481750e+02
PRODUCT: ADP-ribosylation factor 1
ASSEMBLY: M36340
CONTIG: NT_004559.11|37548557|na|4446623|4463104|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_001658|6995997|na
XP: NP_001649|4502201|na
ACCNUM: M84327|178153|na|na|na
TYPE: g
ACCNUM: M84332|178154|na|na|na
TYPE: g
PROT: AAA35511|178156|1
ACCNUM: AF052179|3360490|na|na|na
TYPE: m
PROT: AAC28623|3360491|1
ACCNUM: AF055002|3005720|na|na|na
TYPE: m
PROT: AAC09356|3005721|1
ACCNUM: AF493881|20147654|na|na|na
TYPE: m
PROT: AAM12595|20147655|1
ACCNUM: AK000620|7020834|na|na|na
TYPE: m
ACCNUM: AK057838|16553799|na|na|na
TYPE: m
ACCNUM: AK057875|16553846|na|na|na
TYPE: m
ACCNUM: AK130737|34527605|na|na|na
TYPE: m
ACCNUM: BC009247|33874342|na|na|na
TYPE: m
PROT: AAH09247|14328071|1
ACCNUM: BC010415|33872952|na|na|na
TYPE: m
ACCNUM: BC010429|14714585|na|na|na
TYPE: m
PROT: AAH10429|14714586|1
ACCNUM: BC011358|15030200|na|na|na
TYPE: m
PROT: AAH11358|15030201|1
ACCNUM: M36340|178982|na|na|na
TYPE: m
PROT: AAA35552|178983|1
ACCNUM: M84326|178163|na|na|na
TYPE: m
PROT: AAA35512|178164|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P32889|416637|0
OFFICIAL_SYMBOL: ARF1
OFFICIAL_GENE_NAME: ADP-ribosylation factor 1
PREFERRED_PRODUCT: ADP-ribosylation factor 1
SUMMARY: Summary: ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D.  The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF1 gene spans approximately 16.5 kb and contains five exons and four introns. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport.
CHR: 1
STS: D1S3252|1|74407|D1S3252|seq_map|epcr
STS: RH64921|1|84615|na|seq_map|epcr
COMP: 1253|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A375[id]+AND+gene[obj_type]&QSTR=arf1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=286221
UNIGENE: Hs.286221
OMIM: 103180
MAP: 1q42|HUGO|C|
MAPLINK: default_human_gene|ARF1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=375
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=375[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132606
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001658
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001658
BUTTON: books.gif
LINK: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.1210+OR+arev.section.1214
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+375
PMID: 14690595,14676827,14665636,12799371,12477932,11914273,9110174,8661066,8619474,8529647,7990966,2474826,1899243,1577740
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|1577740
GO: cellular component|Golgi apparatus|IEA|GO:0005794|GOA|na
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|8529647
GO: biological process|protein transport|IEA|GO:0015031|GOA|na
GO: molecular function|receptor signaling protein activity|TAS|GO:0005057|GOA|8529647
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>376
LOCUSID: 376
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
ACCNUM: U91920|2689482|na|na|na
TYPE: m
ACCNUM: U91921|2689483|na|na|na
TYPE: m
OFFICIAL_SYMBOL: ARF2
OFFICIAL_GENE_NAME: ADP-ribosylation factor 2
CHR: 3
OMIM: 600507
MAP: 3p21.2-p21.1|HUGO|C|
MAPLINK: default_human_cyto|ARF2
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:364040
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=U91921
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U91921
PMID: 9180902,7956370
>>377
LOCUSID: 377
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001659|4502202|na
NP: NP_001650|4502203
CDD: smart00177: ARF-like small GTPases|14910|873|na|3.404710e+02
PRODUCT: ADP-ribosylation factor 3
ASSEMBLY: M74491
CONTIG: NT_029419.10|29803948|na|11473298|11494616|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_001659|4502202|na
XP: NP_001650|4502203|na
ACCNUM: M74492|178157|na|na|na
TYPE: g
ACCNUM: M74493|178158|na|na|na
TYPE: g
PROT: AAA58359|178160|1
ACCNUM: BC007647|14043304|na|na|na
TYPE: m
PROT: AAH07647|14043305|1
ACCNUM: BC007762|33873675|na|na|na
TYPE: m
PROT: AAH07762|14043562|1
ACCNUM: BC017565|33869462|na|na|na
TYPE: m
PROT: AAH17565|17068373|1
ACCNUM: BC028402|34190628|na|na|na
TYPE: m
PROT: AAH28402|20306322|1
ACCNUM: M33384|178980|na|na|na
TYPE: m
PROT: AAA83931|178981|1
ACCNUM: M74491|178161|na|na|na
TYPE: m
PROT: AAB59425|178162|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P16587|114125|0
OFFICIAL_SYMBOL: ARF3
OFFICIAL_GENE_NAME: ADP-ribosylation factor 3
PREFERRED_PRODUCT: ADP-ribosylation factor 3
SUMMARY: Summary: ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D.  The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns.
CHR: 12
STS: WI-7107|12|1423|na|seq_map|epcr
STS: RH46941|12|26310|na|seq_map|epcr
STS: STS-M79003|12|64465|na|seq_map|epcr
STS: G10609|12|68019|na|seq_map|epcr
COMP: 20400|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A377[id]+AND+gene[obj_type]&QSTR=arf3&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=119177
UNIGENE: Hs.119177
OMIM: 103190
MAP: 12q13|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103190">OMIM</a>|C|
MAPLINK: default_human_gene|ARF3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=377
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=377[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132649
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001659
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001659
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+377
PMID: 12477932,12135740,8947846,8661066,8473323,2474826,1744102,1577740
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: biological process|intracellular protein transport|IEA|GO:0006886|GOA|na
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>378
LOCUSID: 378
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001660|6995998|na
NP: NP_001651|4502205
CDD: smart00177: ARF-like small GTPases|14910|769|na|3.004100e+02
PRODUCT: ADP-ribosylation factor 4
ASSEMBLY: AH008182,M36341
CONTIG: NT_022517.16|37550163|na|57472114|57505426|-|3|reference
EVID: supported by alignment with mRNA
XM: NM_001660|6995998|na
XP: NP_001651|4502205|na
ACCNUM: AF104238|5880486|na|na|na
TYPE: g
PROT: AAD54674|5880488|1
ACCNUM: AF493883|20147658|na|na|na
TYPE: m
PROT: AAM12597|20147659|1
ACCNUM: BC003364|13097191|na|na|na
TYPE: m
PROT: AAH03364|13097192|1
ACCNUM: BC008753|33869289|na|na|na
TYPE: m
PROT: AAH08753|14250597|1
ACCNUM: BC016325|16740933|na|na|na
TYPE: m
PROT: AAH16325|16740934|1
ACCNUM: BC022866|18605550|na|na|na
TYPE: m
PROT: AAH22866|18605551|1
ACCNUM: M36341|178984|na|na|na
TYPE: m
PROT: AAA53081|178985|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P18085|114123|0
OFFICIAL_SYMBOL: ARF4
OFFICIAL_GENE_NAME: ADP-ribosylation factor 4
PREFERRED_PRODUCT: ADP-ribosylation factor 4
SUMMARY: Summary: ADP-ribosylation factor 4 (ARF4) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D.  The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. The ARF4 is the most divergent member of the human ARFs. Conflicting Map positions at 3p14 or 3p21 have been reported for this gene.
CHR: 3
STS: D3S1637|-|36838|D3S1637|na|epcr
STS: RH69960|3|37605|na|seq_map|epcr
STS: D3S3904|3|72627|D3S3904|seq_map|epcr
STS: D3S1637|3|154302|D3S1637|seq_map|epcr
STS: D3S1623|-|154305|D3S1623|na|epcr
COMP: 1254|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A378[id]+AND+gene[obj_type]&QSTR=arf4&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435639
UNIGENE: Hs.435639
OMIM: 601177
MAP: 3p21.2-p21.1|RefSeq|C|
MAPLINK: default_human_gene|ARF4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=378
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=378[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132646
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001660
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001660
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+378
DB_DESCR: PharmGKB: PA24937
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24937
PMID: 15049518,12477932,12446727,10524252,10099884,7956370,2107548,1899243
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|2107548
GO: cellular component|Golgi apparatus|IEA|GO:0005794|GOA|na
GO: molecular function|enzyme activator activity|NR|GO:0008047|GOA|na
GO: biological process|protein transport|IEA|GO:0015031|GOA|na
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>379
LOCUSID: 379
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001661|41327766|na
NP: NP_001652|41327767
CDD: KOG0070: GTP-binding ADP-ribosylation factor Arf1 [Intracellular trafficking, secretion, and vesicular transport]|17868|554|na|2.174320e+02
CDD: KOG0072: GTP-binding ADP-ribosylation factor-like protein ARL1 [Intracellular trafficking, secretion, and vesicular transport]|17870|326|na|1.297420e+02
PRODUCT: ADP-ribosylation factor 4-like
ASSEMBLY: AB060692,BC000043,BI547763,BU729196,U25771
CONTIG: NT_010783.14|37544107|na|130164|132309|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_001661|41327766|na
XP: NP_001652|41327767|na
ACCNUM: AB060692|20302482|na|na|na
TYPE: m
PROT: BAB91080|20302483|1
ACCNUM: BC000043|33990739|na|na|na
TYPE: m
PROT: AAH00043|12652599|1
ACCNUM: BI547763|15435075|na|na|na
TYPE: m
ACCNUM: BU729196|23651836|na|na|na
TYPE: m
ACCNUM: L38490|601847|na|na|na
TYPE: m
PROT: AAA57126|601848|1
ACCNUM: U25771|808069|na|na|na
TYPE: m
PROT: AAA93229|808070|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P49703|1351977|0
OFFICIAL_SYMBOL: ARF4L
OFFICIAL_GENE_NAME: ADP-ribosylation factor 4-like
ALIAS_SYMBOL: ARL6
PREFERRED_PRODUCT: ADP-ribosylation factor 4-like
SUMMARY: Summary: ADP-ribosylation factor 4-like is a member of the ADP-ribosylation factor family of GTP-binding proteins.  ARF4L is closely similar to ARL4 and ARL7 and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate.
CHR: 17
STS: RH70270|17|20207|na|seq_map|epcr
STS: SHGC-11073|17|26411|na|seq_map|epcr
STS: D17S1343|-|150228|D17S1343|na|epcr
COMP: 1255|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A379[id]+AND+gene[obj_type]&QSTR=arf4l&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ADP-ribosylation factor-like 6
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183153
UNIGENE: Hs.183153
OMIM: 600732
MAP: 17q12-q21|RefSeq|C|
MAPLINK: default_human_gene|ARF4L
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=379
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=379[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:631201
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001661
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001661
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+379
PMID: 12477932,12472661,10462049,8889548,7590735,7581362,7545954
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|7590735
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|protein secretion|TAS|GO:0009306|GOA|7590735
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>380
LOCUSID: 380
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: REVIEWED
NG: NG_001075|20270461|na|1|766
CONTIG: NT_008554.15|29795374|na|490523|491065|+|9|na
EVID: alignment with NG_001075
XG: NG_001075|20270461|na
ACCNUM: AC000387|2257738|na|na|na
TYPE: g
ACCNUM: M31889|178165|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ARF4P
OFFICIAL_GENE_NAME: ADP-ribosylation factor 4 pseudogene
CHR: 9
MAP: 9q34|RefSeq|C|
MAPLINK: default_human_gene|ARF4P
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=380
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132647
PMID: 2107548
>>381
LOCUSID: 381
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001662|6995999|na
NP: NP_001653|4502209
CDD: smart00177: ARF-like small GTPases|14910|773|na|3.019510e+02
PRODUCT: ADP-ribosylation factor 5
ASSEMBLY: M57567
CONTIG: NT_007933.13|37538784|na|52405193|52408428|+|7|reference
EVID: supported by alignment with mRNA
XM: NM_001662|6995999|na
XP: NP_001653|4502209|na
CONTIG: NT_079596.1|37539429|na|26644382|26647617|+|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001662|6995999|na
XP: NP_001653|4502209|na
ACCNUM: U73002|2088528|na|na|na
TYPE: g
PROT: AAC51299|2088529|1
ACCNUM: AF493884|20147660|na|na|na
TYPE: m
PROT: AAM12598|20147661|1
ACCNUM: BC003043|12804364|na|na|na
TYPE: m
PROT: AAH03043|12804365|1
ACCNUM: BC033104|21620017|na|na|na
TYPE: m
PROT: AAH33104|21620018|1
ACCNUM: M57567|178986|na|na|na
TYPE: m
PROT: AAA90927|178987|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P26437|114127|0
OFFICIAL_SYMBOL: ARF5
OFFICIAL_GENE_NAME: ADP-ribosylation factor 5
PREFERRED_PRODUCT: ADP-ribosylation factor 5
SUMMARY: Summary: ADP-ribosylation factor 5 (ARF5) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D.  The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. The ARF5 gene spans approximately 3.2kb of genomic DNA and contains six exons and five introns.
CHR: 7
STS: D7S2779|7|25939|D7S2779|seq_map|epcr
STS: RH69260|7|28620|na|seq_map|epcr
STS: D7S2378|7|74799|D7S2378|seq_map|epcr
COMP: 20401|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/human-chr7&query=e%3A381[id]+AND+gene[obj_type]&QSTR=arf5&cmd=focus&fill=10|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=430657
UNIGENE: Hs.430657
OMIM: 103188
MAP: 7q31.3|RefSeq|C|
MAPLINK: default_human_gene|ARF5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=381
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=381[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136902
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001662
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001662
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+381
PMID: 12477932,9169151,1993656
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|1993656
GO: cellular component|Golgi apparatus|IEA|GO:0005794|GOA|na
GO: molecular function|enzyme activator activity|NR|GO:0008047|GOA|na
GO: biological process|protein transport|IEA|GO:0015031|GOA|na
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>382
LOCUSID: 382
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001663|6996000|na
NP: NP_001654|4502211
CDD: smart00177: ARF-like small GTPases|14910|862|na|3.362340e+02
CDD: cd00154: Rab subfamily of small GTPases|5377|158|na|6.474810e+01
PRODUCT: ADP-ribosylation factor 6
ASSEMBLY: AF047432
CONTIG: NT_026437.10|29736559|na|30279877|30281772|+|14|reference
EVID: supported by alignment with mRNA
XM: NM_001663|6996000|na
XP: NP_001654|4502211|na
ACCNUM: AF047432|2911479|na|na|na
TYPE: m
PROT: AAC39877|2911480|1
ACCNUM: BC002952|12804188|na|na|na
TYPE: m
ACCNUM: BC008918|39644703|na|na|na
TYPE: m
PROT: AAH08918|14286244|1
ACCNUM: BC030291|20988451|na|na|na
TYPE: m
ACCNUM: M57763|178988|na|na|na
TYPE: m
PROT: AAA90928|178989|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P26438|114129|0
OFFICIAL_SYMBOL: ARF6
OFFICIAL_GENE_NAME: ADP-ribosylation factor 6
PREFERRED_PRODUCT: ADP-ribosylation factor 6
SUMMARY: Summary: ADP-ribosylation factor 6 (ARF6) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D.  The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The ARF6 protein is uniquely localized to the plasma membrane.
CHR: 14
STS: SHGC-64342|-|9452|na|na|epcr
STS: SHGC-64115|-|48227|na|na|epcr
STS: G35716|-|56941|na|na|epcr
STS: G35574|-|59238|na|na|epcr
STS: SHGC-2638|14|68266|na|seq_map|epcr
STS: D14S793|-|153530|D14S793|na|epcr
COMP: 1256|14|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=14&MAPS=genes-r-org/rat-chr/human%3A14,genes-r-org/mouse-chr/human%3A14,genes-r-org/human-chr14&query=e%3A382[id]+AND+gene[obj_type]&QSTR=arf6&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89474
UNIGENE: Hs.89474
OMIM: 600464
MAP: 14q21.3|RefSeq|C|
MAPLINK: default_human_gene|ARF6
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=382
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=382[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136907
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001663
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001663
DB_DESCR: KEGG pathway: Cholera - Infection
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05110+382
PMID: 15087504,14659046,14625293,12902467,12799371,12526811,12477932,12032069,12016212,11867621,11042152,10343114,9653160,8702973,7855600,7589240,1993656
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: biological process|intracellular protein transport|IEA|GO:0006886|GOA|na
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>383
LOCUSID: 383
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000045|10947138|na
NP: NP_000036|10947139
CDD: KOG2965: Arginase [Amino acid transport and metabolism]|20751|1192|na|4.632660e+02
PRODUCT: arginase, type I
ASSEMBLY: M14502,X12662
CONTIG: NT_025741.13|37551196|na|35998794|36009897|+|6|reference
EVID: supported by alignment with mRNA
XM: NM_000045|10947138|na
XP: NP_000036|10947139|na
ACCNUM: AL121575|7264053|na|na|na
TYPE: g
PROT: CAB92071|7981322|1
ACCNUM: X12662|28829|na|na|na
TYPE: g
PROT: CAA31188|1197498|1
ACCNUM: AK128314|34535626|na|na|na
TYPE: m
ACCNUM: AY074488|18535611|na|na|na
TYPE: m
PROT: AAL71547|18535612|1
ACCNUM: BC005321|13529082|na|na|na
TYPE: m
PROT: AAH05321|13529083|1
ACCNUM: BC020653|18089066|na|na|na
TYPE: m
PROT: AAH20653|18089067|1
ACCNUM: BT006741|30582320|na|na|na
TYPE: m
PROT: AAP35387|30582321|1
ACCNUM: M14502|178994|na|na|na
TYPE: m
PROT: AAA51776|178995|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05089|12230985|0
OFFICIAL_SYMBOL: ARG1
OFFICIAL_GENE_NAME: arginase, liver
PREFERRED_PRODUCT: arginase, type I
SUMMARY: Summary:  Arginase catalyzes the hydrolysis of arginine to ornithine and urea.  At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function.  The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle.  Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia.
CHR: 6
STS: SGC38314|6|19443|na|seq_map|epcr
STS: STS-M14502|6|40466|na|seq_map|epcr
STS: SHGC-16174|6|79323|na|seq_map|epcr
STS: RH46810|6|82885|na|seq_map|epcr
STS: GDB:190876|-|155628|na|na|epcr
COMP: 29|6|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=6&MAPS=genes-r-org/rat-chr/human%3A6,genes-r-org/mouse-chr/human%3A6,genes-r-org/human-chr6&query=e%3A383[id]+AND+gene[obj_type]&QSTR=arg1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: A-I
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440934
UNIGENE: Hs.440934
OMIM: 608313
ECNUM: 3.5.3.1
MAP: 6q23|RefSeq|C|
MAPLINK: default_human_gene|ARG1
PHENOTYPE: Argininemia
PHENOTYPE_ID: 207800
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=383
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=383[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119006
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119006.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000045
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000045
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=207800
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=608313
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+383
DB_DESCR: KEGG pathway: Urea cycle and metabolism of amino groups
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00220+383
PMID: 14702039,12477932,12139964,12115381,12083807,11750286,10542097,9686347,3752085,3540966,3174433
GO: molecular function|arginase activity|TAS|GO:0004053|GOA|3540966
GO: biological process|arginine catabolism|TAS|GO:0006527|GOA|3540966
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|3540966
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|manganese ion binding|IEA|GO:0030145|GOA|na
GO: biological process|urea cycle|NR|GO:0000050|GOA|na
>>384
LOCUSID: 384
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001172|10947110|na
NP: NP_001163|4502215
CDD: KOG2965: Arginase [Amino acid transport and metabolism]|20751|1243|na|4.829110e+02
PRODUCT: arginase, type II precursor
ASSEMBLY: U75667,U82256
CONTIG: NT_026437.10|29736559|na|48006697|48038461|+|14|reference
EVID: supported by alignment with mRNA
XM: NM_001172|10947110|na
XP: NP_001163|4502215|na
ACCNUM: AY074489|18535613|na|na|na
TYPE: m
PROT: AAL71548|18535614|1
ACCNUM: BC001350|12655004|na|na|na
TYPE: m
PROT: AAH01350|12655005|1
ACCNUM: BC008464|14250105|na|na|na
TYPE: m
PROT: AAH08464|14250106|1
ACCNUM: BC029050|20809780|na|na|na
TYPE: m
PROT: AAH29050|20809781|1
ACCNUM: D86724|1694632|na|na|na
TYPE: m
PROT: BAA13158|1694633|1
ACCNUM: U75667|1763757|na|na|na
TYPE: m
PROT: AAB39855|1763758|1
ACCNUM: U82256|1773058|na|na|na
TYPE: m
PROT: AAC51664|1773059|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P78540|2492935|0
OFFICIAL_SYMBOL: ARG2
OFFICIAL_GENE_NAME: arginase, type II
PREFERRED_PRODUCT: arginase, type II precursor
SUMMARY: Summary:  Arginase catalyzes the hydrolysis of arginine to ornithine and urea.  At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function.  The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney.  The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism.  Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described.
CHR: 14
STS: WI-19297|14|74104|na|seq_map|epcr
COMP: 906|14|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=14&MAPS=genes-r-org/rat-chr/human%3A14,genes-r-org/mouse-chr/human%3A14,genes-r-org/human-chr14&query=e%3A384[id]+AND+gene[obj_type]&QSTR=arg2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: A-II
ALIAS_PROT: kidney arginase
ALIAS_PROT: nonhepatic arginase
ALIAS_PROT: L-arginine ureahydrolase
ALIAS_PROT: L-arginine amidinohydrolase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172851
UNIGENE: Hs.172851
OMIM: 107830
ECNUM: 3.5.3.1
MAP: 14q24.1-q24.3|RefSeq|C|
MAPLINK: default_human_gene|ARG2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=384
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=384[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:3761274
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001172
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001172
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+384
DB_DESCR: KEGG pathway: Urea cycle and metabolism of amino groups
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00220+384
PMID: 12859189,12477932,9686347,9256072,9144563,8954792,8898077
GO: molecular function|arginase activity|TAS|GO:0004053|GOA|9144563
GO: biological process|arginine catabolism|NR|GO:0006527|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|manganese ion binding|IEA|GO:0030145|GOA|na
GO: cellular component|mitochondrion|TAS|GO:0005739|GOA|8898077
GO: biological process|nitric oxide biosynthesis|TAS|GO:0006809|GOA|8898077
GO: biological process|urea cycle|IEA|GO:0000050|GOA|na
>>385
LOCUSID: 385
CURRENT_LOCUSID: 388
ORGANISM: Homo sapiens
>>386
LOCUSID: 386
CURRENT_LOCUSID: 389
ORGANISM: Homo sapiens
>>387
LOCUSID: 387
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_001664|50593005|na
NP: NP_001655|10835049
CDD: cd00157: Rho (Ras homology) subfamily of Ras-like small GTPases|14829|827|na|3.225250e+02
PRODUCT: ras homolog gene family, member A
ASSEMBLY: AK130066,BC000946
CONTIG: NT_022517.16|37550163|na|49320590|49373411|-|3|reference
EVID: supported by alignment with mRNA
XM: NM_001664|50593005|na
XP: NP_001655|10835049|na
ACCNUM: M83094|806640|na|na|na
TYPE: g
PROT: AAA67539|183264|1
ACCNUM: AK130066|34526806|na|na|na
TYPE: m
ACCNUM: AK130808|34527692|na|na|na
TYPE: m
ACCNUM: BC000946|34783074|na|na|na
TYPE: m
PROT: AAH00946|34783075|2
ACCNUM: BC001360|33876092|na|na|na
TYPE: m
PROT: AAH01360|12655025|1
ACCNUM: BC005976|13543653|na|na|na
TYPE: m
PROT: AAH05976|13543654|1
ACCNUM: BX647063|34366095|na|na|na
TYPE: m
PROT: CAE46190|34366096|1
ACCNUM: L09159|307374|na|na|na
TYPE: m
PROT: AAA50612|307375|1
ACCNUM: L25080|407696|na|na|na
TYPE: m
PROT: AAC33178|407697|1
ACCNUM: X05026|36029|na|na|na
TYPE: m
PROT: CAA28690|36030|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P06749|132540|0
OFFICIAL_SYMBOL: RHOA
OFFICIAL_GENE_NAME: ras homolog gene family, member A
ALIAS_SYMBOL: ARHA
ALIAS_SYMBOL: ARH12
ALIAS_SYMBOL: RHO12
ALIAS_SYMBOL: RHOH12
PREFERRED_PRODUCT: ras homolog gene family, member A
CHR: 3
STS: WI-18922|3|62388|na|seq_map|epcr
STS: A004T30|3|72110|na|seq_map|epcr
STS: RH91501|3|88496|na|seq_map|epcr
STS: G60181|3|137440|na|seq_map|epcr
STS: GDB:181197|3|155171|na|seq_map|epcr
ALIAS_PROT: oncogene RHO H12
ALIAS_PROT: Aplysia ras-related homolog 12
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77273
UNIGENE: Hs.77273
OMIM: 165390
MAP: 3p21.3|RefSeq|C|
MAPLINK: default_human_gene|RHOA
REL2: 155807|NP_057852|Vpr, p15|upregulates|NP_001655|ras homolog gene family, member A|HIV-1 Vpr-expressing Jurkat T cell clones showed a significant upregulation of RhoA expression|10713718
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=387
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=387[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119698
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001664
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001664
DB_DESCR: KEGG pathway: Wnt signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04310+387
DB_DESCR: KEGG pathway: TGF-beta signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04350+387
DB_DESCR: KEGG pathway: Integrin-mediated cell adhesion
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04510+387
PMID: 15068789,15009099,15003991,14660612,14657501,14644158,14605490,14581471,14514689,14506264,12972601,12972426,12939257,12847276,12808121,12805219,12766172,12761501,12719789,12692008,12593858,12584113,12579323,12534282,12524425,12477932,12445208,12401808,12397214,12244193,12221096,12169092,12154081,12119292,12115629,12071848,12016230,12006984,11907271,11839765,11830597,11822867,11818523,11788600,11741970,10713718,10436159,9605859,8039707,7835413,3822842,2407642,1556108
>>388
LOCUSID: 388
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_004040|42716309|na
NP: NP_004031|4757764
CDD: smart00174: Rho (Ras homology) subfamily of Ras-like small GTPases|8937|788|na|3.075160e+02
PRODUCT: ras homolog gene family, member B
ASSEMBLY: AK124398,BM669284
CONTIG: NT_015926.13|29789874|na|4289304|4289894|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_004040|42716309|na
XP: NP_004031|4757764|na
ACCNUM: AF498971|20379115|na|na|na
TYPE: m
PROT: AAM21118|20379116|1
ACCNUM: AK124398|34530176|na|na|na
TYPE: m
ACCNUM: BC066954|44890763|na|na|na
TYPE: m
PROT: AAH66954|44890764|1
ACCNUM: BK001232|37718738|na|na|na
TYPE: m
PROT: DAA01138|37718739|1
ACCNUM: BM669284|18979181|na|na|na
TYPE: m
ACCNUM: M12174|337392|na|na|na
TYPE: m
PROT: AAA36565|337393|1
ACCNUM: X06820|36031|na|na|na
TYPE: m
PROT: CAA29968|36032|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P01121|132542|0
OFFICIAL_SYMBOL: RHOB
OFFICIAL_GENE_NAME: ras homolog gene family, member B
ALIAS_SYMBOL: ARH6
ALIAS_SYMBOL: ARHB
ALIAS_SYMBOL: RHOH6
PREFERRED_PRODUCT: ras homolog gene family, member B
CHR: 2
STS: RH44304|2|4340|na|seq_map|epcr
STS: RH66820|2|29414|na|seq_map|epcr
COMP: 20858|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A388[id]+AND+gene[obj_type]&QSTR=rhob&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: oncogene RHO H6
ALIAS_PROT: Aplysia RAS-related homolog 6
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406064
UNIGENE: Hs.406064
OMIM: 165370
MAP: 2p24|RefSeq|C|
MAPLINK: default_human_gene|RHOB
REL2: 155807|NP_057852|Vpr, p15|upregulates|NP_004031|ras homolog gene family, member B|HIV-1 Vpr-expressing Jurkat T cell clones showed a significant upregulation of RhoB expression|10713718
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=388
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=388[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119699
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004040
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004040
DB_DESCR: KEGG pathway: Integrin-mediated cell adhesion
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04510+388
PMID: 14702039,14647415,13679859,13679852,12939257,12878865,12477932,12221096,11905808,11788600,11741970,11353846,10913192,10713718,8889548,3888408,3283705
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|3888408
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|3888408
GO: biological process|cell growth and/or maintenance|IEA|GO:0008151|GOA|na
>>389
LOCUSID: 389
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_175744|34222243|na
NP: NP_786886|28395033
CDD: smart00174: Rho (Ras homology) subfamily of Ras-like small GTPases|8937|825|na|3.217690e+02
PRODUCT: ras homolog gene family, member C
ASSEMBLY: BC009177
CONTIG: NT_019273.16|37539512|na|4239701|4245668|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_175744|34222243|na
XP: NP_786886|28395033|na
ACCNUM: AF085893|3483227|na|na|na
TYPE: m
ACCNUM: AF498972|20379117|na|na|na
TYPE: m
PROT: AAM21119|20379118|1
ACCNUM: AK094474|21753543|na|na|na
TYPE: m
ACCNUM: BC007245|13938242|na|na|na
TYPE: m
PROT: AAH07245|13938243|1
ACCNUM: BC009177|33874349|na|na|na
TYPE: m
PROT: AAH09177|14327919|1
ACCNUM: BC052808|31217370|na|na|na
TYPE: m
PROT: AAH52808|31217371|1
ACCNUM: BX648784|34367949|na|na|na
TYPE: m
ACCNUM: CR450360|47496666|na|na|na
TYPE: m
PROT: CAG29356|47496667|1
ACCNUM: L25081|407698|na|na|na
TYPE: m
PROT: AAC33179|407699|1
ACCNUM: X06821|36033|na|na|na
TYPE: m
PROT: CAA29969|36034|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P08134|132543|0
OFFICIAL_SYMBOL: RHOC
OFFICIAL_GENE_NAME: ras homolog gene family, member C
ALIAS_SYMBOL: ARH9
ALIAS_SYMBOL: ARHC
ALIAS_SYMBOL: RHOH9
PREFERRED_PRODUCT: ras homolog gene family, member C
CHR: 1
STS: SHGC-75332|1|14478|na|seq_map|epcr
COMP: 22408|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A389[id]+AND+gene[obj_type]&QSTR=rhoc&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Aplysia ras-related homolog 9
ALIAS_PROT: Aplysia RAS-related homolog 9 (oncogene RHO H9)
ALIAS_PROT: RAS homolog gene family, member C (oncogene RHO H9)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=179735
UNIGENE: Hs.179735
OMIM: 165380
MAP: 1p13.1|RefSeq|C|
MAPLINK: default_human_gene|RHOC
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=389
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=389[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119700
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_175744
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_175744
DB_DESCR: KEGG pathway: Integrin-mediated cell adhesion
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04510+389
PMID: 14702039,14555841,12970882,12939257,12808121,12761501,12477932,12221096,12090470,11839578,8468062,7835413,3283705
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|8468062
GO: molecular function|catalytic activity|IEA|GO:0003824|GOA|na
GO: biological process|cell growth and/or maintenance|IEA|GO:0008151|GOA|na
GO: biological process|positive regulation of I-kappaB kinase/NF-kappaB cascade|IMP|GO:0043123|GOA|12761501
GO: molecular function|signal transducer activity|IMP|GO:0004871|GOA|12761501
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>390
LOCUSID: 390
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_005168|21361257|na
NP: NP_005159|4885069
CDD: cd00157: Rho (Ras homology) subfamily of Ras-like small GTPases|14829|717|na|2.801530e+02
PRODUCT: ras homolog gene family, member E
ASSEMBLY: BC012513
CONTIG: NT_005403.14|37551287|na|1534127|1553582|-|2|reference
EVID: supported by alignment with mRNA
XM: NM_005168|21361257|na
XP: NP_005159|4885069|na
ACCNUM: BC012513|15214762|na|na|na
TYPE: m
PROT: AAH12513|15214763|1
ACCNUM: S82240|1839516|na|na|na
TYPE: m
PROT: AAB47133|1839517|1
ACCNUM: X95282|1171565|na|na|na
TYPE: m
PROT: CAA64603|1171566|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P52199|1710230|0
OFFICIAL_SYMBOL: ARHE
OFFICIAL_GENE_NAME: ras homolog gene family, member E
ALIAS_SYMBOL: RND3
ALIAS_SYMBOL: Rho8
ALIAS_SYMBOL: RhoE
PREFERRED_PRODUCT: ras homolog gene family, member E
CHR: 2
STS: A004G10|2|2365|na|seq_map|epcr
STS: RH68892|2|13437|na|seq_map|epcr
STS: RH12568|2|61817|na|seq_map|epcr
COMP: 21074|2|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=2&MAPS=genes-r-org/rat-chr/human%3A2,genes-r-org/mouse-chr/human%3A2,genes-r-org/human-chr2&query=e%3A390[id]+AND+gene[obj_type]&QSTR=arhe&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6838
UNIGENE: Hs.6838
OMIM: 602924
MAP: 2q23.3|RefSeq|C|
MAPLINK: default_human_gene|ARHE
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=390
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=390[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5981240
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005168
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005168
DB_DESCR: KEGG pathway: Integrin-mediated cell adhesion
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04510+390
PMID: 12477932,11940653,9531558,8649376
>>391
LOCUSID: 391
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_001665|46249392|na
NP: NP_001656|46249393
CDD: cd00157: Rho (Ras homology) subfamily of Ras-like small GTPases|14829|801|na|3.125100e+02
PRODUCT: ras homolog gene family, member G
ASSEMBLY: BI196968,BX359696,X61587
CONTIG: NT_009237.16|37541814|na|2612152|2626124|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_001665|46249392|na
XP: NP_001656|46249393|na
ACCNUM: AF498974|20379121|na|na|na
TYPE: m
PROT: AAM21121|20379122|1
ACCNUM: AY563952|45685158|na|na|na
TYPE: m
PROT: AAS75333|45685159|1
ACCNUM: BI196968|14651977|na|na|na
TYPE: m
ACCNUM: BX359696|46286729|na|na|na
TYPE: m
ACCNUM: CR450335|47496616|na|na|na
TYPE: m
PROT: CAG29331|47496617|1
ACCNUM: L11317|292426|na|na|na
TYPE: m
PROT: AAA60268|292427|1
ACCNUM: X61587|36035|na|na|na
TYPE: m
PROT: CAA43784|36036|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P35238|464611|0
OFFICIAL_SYMBOL: RHOG
OFFICIAL_GENE_NAME: ras homolog gene family, member G (rho G)
ALIAS_SYMBOL: ARHG
PREFERRED_PRODUCT: ras homolog gene family, member G
SUMMARY: Summary: ARHG is a member of the RAS superfamily of genes, which encode GTP-binding proteins that act in the pathway of signal transduction and play a key role in the regulation of cellular functions.[supplied by OMIM]
CHR: 11
STS: WI-9059|11|78911|na|seq_map|epcr
COMP: 20402|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A391[id]+AND+gene[obj_type]&QSTR=rhog&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75082
UNIGENE: Hs.75082
OMIM: 179505
MAP: 11p15.5-p15.4|HUGO|C|
MAPLINK: default_human_gene|RHOG
REL2: 155807|NP_057852|Vpr, p15|upregulates|NP_001656|ras homolog gene family, member G|HIV-1 Vpr-expressing Jurkat T cell clones showed a significant upregulation of RhoG expression|10713718
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=391
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=391[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136404
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001665
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001665
DB_DESCR: KEGG pathway: Integrin-mediated cell adhesion
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04510+391
PMID: 12545154,12376551,10713718,9177787,8464478,8325658,1620121
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|1620121
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|1620121
GO: biological process|positive regulation of cell proliferation|TAS|GO:0008284|GOA|1620121
GO: biological process|regulation of cell cycle|TAS|GO:0000074|GOA|1620121
>>392
LOCUSID: 392
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_004308|19923243|na
NP: NP_004299|4757766
CDD: cd00170: Sec14p-like lipid-binding domain|14835|217|na|8.776500e+01
CDD: cd00159: GTPase-activator protein for Rho-like GTPases|5330|412|na|1.627810e+02
PRODUCT: Rho GTPase activating protein 1
ASSEMBLY: BC018118
CONTIG: NT_009237.16|37541814|na|45462570|45486060|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_004308|19923243|na
XP: NP_004299|4757766|na
ACCNUM: BC018118|17390259|na|na|na
TYPE: m
PROT: AAH18118|17390260|1
ACCNUM: U02570|450780|na|na|na
TYPE: m
PROT: AAA16142|409027|1
ACCNUM: U62794|2326170|na|na|na
TYPE: m
PROT: AAB66594|2326171|1
ACCNUM: Z23024|312211|na|na|na
TYPE: m
PROT: CAA80560|312212|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q07960|3024550|0
OFFICIAL_SYMBOL: ARHGAP1
OFFICIAL_GENE_NAME: Rho GTPase activating protein 1
ALIAS_SYMBOL: RHOGAP
ALIAS_SYMBOL: RHOGAP1
ALIAS_SYMBOL: CDC42GAP
PREFERRED_PRODUCT: Rho GTPase activating protein 1
CHR: 11
STS: RH79109|11|5171|na|seq_map|epcr
COMP: 20909|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A392[id]+AND+gene[obj_type]&QSTR=arhgap1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: p50rhoGAP
ALIAS_PROT: CDC42 GTPase-activating protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=138860
UNIGENE: Hs.138860
OMIM: 602732
MAP: 11p12-q12|RefSeq|C|
MAPLINK: default_human_gene|ARHGAP1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=392
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=392[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6874909
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004308
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004308
PMID: 14724572,12501193,12477932,10799524,8288572,8253717
GO: molecular function|GTP binding|NAS|GO:0005525|GOA|8253717
GO: molecular function|Rho GTPase activator activity|NAS|GO:0005100|GOA|8253717,8288572
GO: molecular function|Rho GTPase activator activity|TAS|GO:0005100|GOA|8253717,8288572
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|8253717
GO: molecular function|SH3/SH2 adaptor protein activity|TAS|GO:0005070|GOA|8253717
GO: cellular component|cellular_component unknown|ND|GO:0008372|GOA|na
GO: biological process|cytoskeleton organization and biogenesis|NR|GO:0007010|GOA|na
GO: biological process|signal transduction|NAS|GO:0007165|GOA|8288572
>>393
LOCUSID: 393
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001666|41327157|na
NP: NP_001657|41327158
CDD: smart00326: Src homology 3 domains|24253|166|na|6.789980e+01
CDD: pfam00611: Fes/CIP4 homology domain|23040|128|na|5.336230e+01
CDD: cd00159: GTPase-activator protein for Rho-like GTPases|5330|464|na|1.828110e+02
CDD: KOG3565: Cdc42-interacting protein CIP4 [Cytoskeleton]|21348|923|na|3.597270e+02
PRODUCT: Rho GTPase activating protein 4
ASSEMBLY: X78817
CONTIG: NT_025965.12|37546492|na|524806|543673|-|X|reference
EVID: supported by alignment with mRNA
XM: NM_001666|41327157|na
XP: NP_001657|41327158|na
ACCNUM: Z68128|6688310|na|na|na
TYPE: g
PROT: CAA92213|6688311|1
ACCNUM: AY183123|29242796|na|na|na
TYPE: m
PROT: AAO66337|29242797|1
ACCNUM: BC023626|40226206|na|na|na
TYPE: m
PROT: AAH23626|40226207|1
ACCNUM: BC052303|30353955|na|na|na
TYPE: m
PROT: AAH52303|30353956|1
ACCNUM: D50921|1469184|na|na|na
TYPE: m
PROT: BAA09480|1469185|1
ACCNUM: X78817|840785|na|na|na
TYPE: m
PROT: CAA55394|840786|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P98171|1710117|0
OFFICIAL_SYMBOL: ARHGAP4
OFFICIAL_GENE_NAME: Rho GTPase activating protein 4
ALIAS_SYMBOL: C1
ALIAS_SYMBOL: RGC1
ALIAS_SYMBOL: RhoGAP4
ALIAS_SYMBOL: KIAA0131
PREFERRED_PRODUCT: Rho GTPase activating protein 4
CHR: X
STS: DXS8147|-|24778|DXS8147|na|epcr
STS: RH25354|X|62028|na|seq_map|epcr
COMP: 20403|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A393[id]+AND+gene[obj_type]&QSTR=arhgap4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: p115
ALIAS_PROT: Rho-GAP hematopoietic protein C1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3109
UNIGENE: Hs.3109
OMIM: 300023
MAP: Xq28|RefSeq|C|
MAPLINK: default_human_gene|ARHGAP4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=393
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=393[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6888562
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001666
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001666
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA0131
PMID: 15067381,12736724,12477932,11754100,9286695,8590280,8570618,7981673
GO: molecular function|Rho GTPase activator activity|TAS|GO:0005100|GOA|8570618
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|8570618
GO: molecular function|SH3/SH2 adaptor protein activity|TAS|GO:0005070|GOA|8570618
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|8570618
GO: biological process|cytoskeleton organization and biogenesis|TAS|GO:0007010|GOA|8570618
>>394
LOCUSID: 394
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001173|4502220|na
NP: NP_001164|4502221
CDD: cd00154: Rab subfamily of small GTPases|5377|88|na|3.778410e+01
CDD: smart00441: Contains two conserved F residues|24280|125|na|5.207640e+01
CDD: cd00159: GTPase-activator protein for Rho-like GTPases|5330|486|na|1.912850e+02
PRODUCT: Rho GTPase activating protein 5
ASSEMBLY: U17032
CONTIG: NT_026437.10|29736559|na|12466534|12544383|+|14|reference
EVID: supported by alignment with mRNA
XM: NM_001173|4502220|na
XP: NP_001164|4502221|na
ACCNUM: U17032|687592|na|na|na
TYPE: m
PROT: AAA95963|687593|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13017|46397678|0
OFFICIAL_SYMBOL: ARHGAP5
OFFICIAL_GENE_NAME: Rho GTPase activating protein 5
ALIAS_SYMBOL: p190-B
ALIAS_SYMBOL: RhoGAP5
PREFERRED_PRODUCT: Rho GTPase activating protein 5
SUMMARY: Summary: Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP.
CHR: 14
STS: RH18005|14|32239|na|seq_map|epcr
COMP: 907|14|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=14&MAPS=genes-r-org/rat-chr/human%3A14,genes-r-org/mouse-chr/human%3A14,genes-r-org/human-chr14&query=e%3A394[id]+AND+gene[obj_type]&QSTR=arhgap5&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409546
UNIGENE: Hs.409546
OMIM: 602680
MAP: 14q12|RefSeq|C|
MAPLINK: default_human_gene|ARHGAP5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=394
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=394[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6889383
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001173
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001173
DB_DESCR: PharmGKB: PA24959
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24959
PMID: 14610059,8537347
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|8537347
GO: molecular function|Rho GTPase activator activity|TAS|GO:0005100|GOA|8537347
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|8537347
GO: biological process|cell adhesion|TAS|GO:0007155|GOA|8537347
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|8537347
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
>>395
LOCUSID: 395
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001174|7382476|na
NP: NP_001165|4502223
CDD: pfam00620: RhoGAP domain|23044|377|na|1.492310e+02
CDD: KOG2710: Rho GTPase-activating protein [Signal transduction mechanisms, Cytoskeleton]|20496|808|na|3.154170e+02
PRODUCT: Rho GTPase activating protein 6 isoform 2
TRANSVAR: Transcript Variant: This splice variant includes the alternatively spliced exons 1a and 12. A cryptic splice site in exon 12 is not utilized in this variant.
ASSEMBLY: AF022212
NM: NM_006125|7382483|na
NP: NP_006116|7382484
CDD: pfam00620: RhoGAP domain|23044|391|na|1.546240e+02
CDD: KOG2710: Rho GTPase-activating protein [Signal transduction mechanisms, Cytoskeleton]|20496|923|na|3.597150e+02
PRODUCT: Rho GTPase activating protein 6 isoform 3
TRANSVAR: Transcript Variant: This splice variant includes the alternatively spliced exons 1a and 11.
ASSEMBLY: AF012272
NM: NM_013422|7382477|na
NP: NP_038266|7382478
CDD: pfam00620: RhoGAP domain|23044|380|na|1.503870e+02
CDD: KOG2710: Rho GTPase-activating protein [Signal transduction mechanisms, Cytoskeleton]|20496|918|na|3.577890e+02
PRODUCT: Rho GTPase activating protein 6 isoform 5
TRANSVAR: Transcript Variant: This splice variant includes the alternatively spliced exons 1b and 11.
ASSEMBLY: AF177665
NM: NM_013423|7382479|na
NP: NP_038267|7382480
CDD: pfam00620: RhoGAP domain|23044|398|na|1.573200e+02
CDD: KOG2710: Rho GTPase-activating protein [Signal transduction mechanisms, Cytoskeleton]|20496|928|na|3.616410e+02
PRODUCT: Rho GTPase activating protein 6 isoform 4
TRANSVAR: Transcript Variant: This splice variant includes the alternatively spliced exon 1b and does not contain exon 1a.
ASSEMBLY: AF177663
NM: NM_013427|7382481|na
NP: NP_038286|7382482
CDD: smart00324: GTPase-activator protein for Rho-like GTPases|22759|403|na|1.593130e+02
CDD: KOG2710: Rho GTPase-activating protein [Signal transduction mechanisms, Cytoskeleton]|20496|928|na|3.616410e+02
PRODUCT: Rho GTPase activating protein 6 isoform 1
TRANSVAR: Transcript Variant: This splice variant includes the alternatively spliced exon 1a.
ASSEMBLY: AF117067
CONTIG: NT_011757.13|37546406|na|7122229|7650386|-|X|reference
EVID: supported by alignment with mRNA
XM: NM_001174|7382476|na
XP: NP_001165|4502223|na
EVID: supported by alignment with mRNA
XM: NM_006125|7382483|na
XP: NP_006116|7382484|na
EVID: supported by alignment with mRNA
XM: NM_013422|7382477|na
XP: NP_038266|7382478|na
EVID: supported by alignment with mRNA
XM: NM_013423|7382479|na
XP: NP_038267|7382480|na
EVID: supported by alignment with mRNA
XM: NM_013427|7382481|na
XP: NP_038286|7382482|na
ACCNUM: AF012272|5731367|na|na|na
TYPE: m
PROT: AAC98539|5731368|2
ACCNUM: AF022212|5731365|na|na|na
TYPE: m
PROT: AAC98540|5731366|2
ACCNUM: AF117067|7243303|na|na|na
TYPE: m
PROT: AAF43261|7243304|1
ACCNUM: AF177663|5823453|na|na|na
TYPE: m
PROT: AAD53166|5823454|1
ACCNUM: AF177665|5881232|na|na|na
TYPE: m
PROT: AAD55087|5881233|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O43182|19855058|0
OFFICIAL_SYMBOL: ARHGAP6
OFFICIAL_GENE_NAME: Rho GTPase activating protein 6
ALIAS_SYMBOL: RHOGAP6
PREFERRED_PRODUCT: Rho GTPase activating protein 6 isoform 1
PREFERRED_PRODUCT: Rho GTPase activating protein 6 isoform 2
PREFERRED_PRODUCT: Rho GTPase activating protein 6 isoform 3
PREFERRED_PRODUCT: Rho GTPase activating protein 6 isoform 4
PREFERRED_PRODUCT: Rho GTPase activating protein 6 isoform 5
SUMMARY: Summary: ARHGAP6 is similar to the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane of several cellular processes. Rho GTPase activating protein 6 is thought to have two independent functions, one as a GTPase-activating protein (GAP) with specificity for RhoA and another as a cytoskeletal protein that promotes actin remodeling. Rho GTPase activating protein 6 exists as five different splice variants through the use of alternatively spliced exons 1a, 1b, 11, and splicing of a cryptic splice donar site in exon 12.
CHR: X
STS: DXS1043|-|3112|DXS1043|na|epcr
STS: DXS1043|-|18199|DXS1043|na|epcr
STS: AFMa052zc1|-|40302|na|na|epcr
STS: DXS7090|-|72249|DXS7090|na|epcr
STS: AF003655|-|94594|na|na|epcr
STS: AF003672|X|94611|na|seq_map|epcr
STS: DXS1445|-|99218|DXS1445|na|epcr
STS: DXS1129|-|99615|DXS1129|na|epcr
STS: DXS1135|-|99621|DXS1135|na|epcr
STS: SHGC-80932|-|102567|na|na|epcr
STS: SHGC-84186|-|104682|na|na|epcr
STS: G62689|-|139814|na|na|epcr
STS: SHGC-108012|-|170496|na|na|epcr
STS: SHGC-105133|-|185030|na|na|epcr
COMP: 7630|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A395[id]+AND+gene[obj_type]&QSTR=arhgap6&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: rhoGAPX-1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250830
UNIGENE: Hs.250830
OMIM: 300118
MAP: Xp22.3|RefSeq|C|
MAPLINK: default_human_gene|ARHGAP6
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=395
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=395[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6919857
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001174
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001174
PMID: 10699171,9417914,8570618
GO: molecular function|Rho GTPase activator activity|NAS|GO:0005100|GOA|10699171
GO: biological process|Rho protein signal transduction|NAS|GO:0007266|GOA|10699171
GO: molecular function|SH3/SH2 adaptor protein activity|TAS|GO:0005070|GOA|8570618
GO: cellular component|actin filament|NAS|GO:0005884|GOA|10699171
GO: biological process|actin filament polymerization|NAS|GO:0030041|GOA|10699171
GO: cellular component|cytoplasm|NAS|GO:0005737|GOA|na
>>396
LOCUSID: 396
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_004309|34147601|na
NP: NP_004300|4757768
CDD: pfam02115: RHO protein GDP dissociation inhibitor|2635|907|na|3.535650e+02
PRODUCT: Rho GDP dissociation inhibitor (GDI) alpha
ASSEMBLY: BC005875
CONTIG: NT_010663.14|37542676|na|39704|43345|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_004309|34147601|na
XP: NP_004300|4757768|na
ACCNUM: X63863|36037|na|na|na
TYPE: g
PROT: CAA45344|36038|1
ACCNUM: AF498926|20379027|na|na|na
TYPE: m
PROT: AAM21074|20379028|1
ACCNUM: BC005851|33869785|na|na|na
TYPE: m
PROT: AAH05851|13543381|1
ACCNUM: BC005875|33870245|na|na|na
TYPE: m
PROT: AAH05875|13543436|1
ACCNUM: BC007630|14712674|na|na|na
TYPE: m
ACCNUM: BC008701|34783901|na|na|na
TYPE: m
PROT: AAH08701|14250508|1
ACCNUM: BC009759|33988487|na|na|na
TYPE: m
PROT: AAH09759|14602503|1
ACCNUM: BC013846|15426615|na|na|na
TYPE: m
ACCNUM: BC016031|16359131|na|na|na
TYPE: m
PROT: AAH16031|16359132|1
ACCNUM: BC016185|16740602|na|na|na
TYPE: m
PROT: AAH16185|16740603|1
ACCNUM: BC024258|18999473|na|na|na
TYPE: m
PROT: AAH24258|18999474|1
ACCNUM: BC027730|33879505|na|na|na
TYPE: m
PROT: AAH27730|20380701|1
ACCNUM: BC028333|20130430|na|na|na
TYPE: m
ACCNUM: BC075827|49899245|na|na|na
TYPE: m
PROT: AAH75827|49899246|1
ACCNUM: D13989|285978|na|na|na
TYPE: m
PROT: BAA03096|285979|1
ACCNUM: M97579|337394|na|na|na
TYPE: m
PROT: AAA36566|337395|1
ACCNUM: X69550|456190|na|na|na
TYPE: m
PROT: CAA49281|456191|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P52565|1707892|0
OFFICIAL_SYMBOL: ARHGDIA
OFFICIAL_GENE_NAME: Rho GDP dissociation inhibitor (GDI) alpha
ALIAS_SYMBOL: GDIA1
ALIAS_SYMBOL: RHOGDI
PREFERRED_PRODUCT: Rho GDP dissociation inhibitor (GDI) alpha
CHR: 17
STS: RH16023|17|24152|na|seq_map|epcr
COMP: 908|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A396[id]+AND+gene[obj_type]&QSTR=arhgdia&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159161
UNIGENE: Hs.159161
OMIM: 601925
MAP: 17q25.3|RefSeq|C|
MAPLINK: default_human_gene|ARHGDIA
REL2: 155807|NP_057852|Vpr, p15|upregulates|NP_004300|Rho GDP dissociation inhibitor (GDI) alpha|HIV-1 Vpr-expressing Jurkat T cell clones showed a significant upregulation of Rho GDI expression|10713718
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=396
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=396[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:1220146
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004309
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004309
PMID: 12477932,10713718,9195882,9186513,8262133
GO: molecular function|GTPase activator activity|IEA|GO:0005096|GOA|na
GO: molecular function|Rho GDP-dissociation inhibitor activity|TAS|GO:0005094|GOA|8262133
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|8262133
GO: cellular component|cytoplasm|NR|GO:0005737|GOA|na
GO: biological process|negative regulation of cell adhesion|TAS|GO:0007162|GOA|8262133
GO: molecular function|protein binding|TAS|GO:0005515|GOA|9195882
>>397
LOCUSID: 397
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001175|10835001|na
NP: NP_001166|10835002
CDD: pfam02115: RHO protein GDP dissociation inhibitor|2635|805|na|3.142740e+02
PRODUCT: Rho GDP dissociation inhibitor (GDI) beta
ASSEMBLY: L20688
CONTIG: NT_009714.16|37543832|na|7853939|7873577|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_001175|10835001|na
XP: NP_001166|10835002|na
ACCNUM: AF498927|20379029|na|na|na
TYPE: m
PROT: AAM21075|20379030|1
ACCNUM: BC009200|33872223|na|na|na
TYPE: m
PROT: AAH09200|14327952|1
ACCNUM: L07916|183067|na|na|na
TYPE: m
ACCNUM: L20688|404044|na|na|na
TYPE: m
PROT: AAA59539|404045|1
ACCNUM: X69549|441454|na|na|na
TYPE: m
PROT: CAA49280|441455|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P52566|1707893|0
OFFICIAL_SYMBOL: ARHGDIB
OFFICIAL_GENE_NAME: Rho GDP dissociation inhibitor (GDI) beta
ALIAS_SYMBOL: D4
ALIAS_SYMBOL: GDIA2
ALIAS_SYMBOL: GDID4
ALIAS_SYMBOL: LYGDI
ALIAS_SYMBOL: RAP1GN1
PREFERRED_PRODUCT: Rho GDP dissociation inhibitor (GDI) beta
CHR: 12
STS: RH126|12|33697|na|seq_map|epcr
STS: SHGC-12871|12|79650|na|na|epcr
STS: D12S1115|12|150200|D12S1115|seq_map|epcr
COMP: 20318|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A397[id]+AND+gene[obj_type]&QSTR=arhgdib&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Ly-GDI
ALIAS_PROT: Rho GDI 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=292738
UNIGENE: Hs.292738
OMIM: 602843
MAP: 12p12.3|HUGO|C|
MAPLINK: default_human_gene|ARHGDIB
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=397
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=397[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:377299
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001175
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001175
PMID: 12477932,12386169,12203895,11989976,9113980,8434008,8356058,8262133,7896279
GO: molecular function|GTPase activator activity|IEA|GO:0005096|GOA|na
GO: molecular function|Rho GDP-dissociation inhibitor activity|TAS|GO:0005094|GOA|8262133
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|8356058
GO: biological process|actin cytoskeleton organization and biogenesis|TAS|GO:0030036|GOA|8262133
GO: cellular component|cytoplasmic vesicle|TAS|GO:0016023|GOA|9113980
GO: biological process|development|TAS|GO:0007275|GOA|8434008
GO: biological process|immune response|TAS|GO:0006955|GOA|8356058
GO: biological process|negative regulation of cell adhesion|TAS|GO:0007162|GOA|9113980
>>398
LOCUSID: 398
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001176|4502224|na
NP: NP_001167|4502225
CDD: pfam02115: RHO protein GDP dissociation inhibitor|2635|874|na|3.408530e+02
PRODUCT: Rho GDP dissociation inhibitor (GDI) gamma
ASSEMBLY: AF080237
CONTIG: NT_037887.3|29810036|na|270628|273701|+|16|reference
EVID: supported by alignment with mRNA
XM: NM_001176|4502224|na
XP: NP_001167|4502225|na
ACCNUM: AE006463|14336687|na|na|na
TYPE: g
PROT: AAK61222|14336689|1
ACCNUM: AF080237|3851550|na|na|na
TYPE: g
PROT: AAC72354|3851551|1
ACCNUM: AF498928|20379031|na|na|na
TYPE: m
PROT: AAM21076|20379032|1
ACCNUM: BC047699|28839700|na|na|na
TYPE: m
PROT: AAH47699|28839701|1
ACCNUM: U82532|1772912|na|na|na
TYPE: m
PROT: AAC33138|1772913|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q99819|38258951|0
OFFICIAL_SYMBOL: ARHGDIG
OFFICIAL_GENE_NAME: Rho GDP dissociation inhibitor (GDI) gamma
PREFERRED_PRODUCT: Rho GDP dissociation inhibitor (GDI) gamma
CHR: 16
STS: RH71265|16|7118|na|seq_map|epcr
ALIAS_PROT: RhoGDI gamma
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=66581
UNIGENE: Hs.66581
OMIM: 602844
MAP: 16p13.3|RefSeq|C|
MAPLINK: default_human_gene|ARHGDIG
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=398
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6288651
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001176
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001176
PMID: 12477932,9787082,9113980
GO: molecular function|GTPase activator activity|IEA|GO:0005096|GOA|na
GO: molecular function|Rho GDP-dissociation inhibitor activity|TAS|GO:0005094|GOA|9113980
GO: biological process|Rho protein signal transduction|TAS|GO:0007266|GOA|9113980
GO: cellular component|cytoplasmic vesicle|TAS|GO:0016023|GOA|9113980
GO: biological process|negative regulation of cell adhesion|TAS|GO:0007162|GOA|9113980
>>399
LOCUSID: 399
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004310|45827772|na
NP: NP_004301|4757770
CDD: cd00157: Rho (Ras homology) subfamily of Ras-like small GTPases|14829|605|na|2.370110e+02
PRODUCT: ras homolog gene family, member H
ASSEMBLY: BC014261,BG025818,CD703012
CONTIG: NT_016297.15|37539484|na|7347315|7394498|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_004310|45827772|na
XP: NP_004301|4757770|na
ACCNUM: AF498975|20379123|na|na|na
TYPE: m
PROT: AAM21122|20379124|1
ACCNUM: BC014261|40225704|na|na|na
TYPE: m
PROT: AAH14261|17315202|1
ACCNUM: BG025818|12412796|na|na|na
TYPE: m
ACCNUM: CD703012|32233722|na|na|na
TYPE: m
ACCNUM: CR450349|47496644|na|na|na
TYPE: m
PROT: CAG29345|47496645|1
ACCNUM: Z35227|609016|na|na|na
TYPE: m
PROT: CAA84538|609017|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q15669|2500200|0
OFFICIAL_SYMBOL: RHOH
OFFICIAL_GENE_NAME: ras homolog gene family, member H
ALIAS_SYMBOL: TTF
ALIAS_SYMBOL: ARHH
PREFERRED_PRODUCT: ras homolog gene family, member H
SUMMARY: Summary: The protein encoded by this gene is a member of the Ras superfamily of small GTPases. Expression of a chimeric transcript of LAZ3 and this gene has been reported as a result of the translocation t(3;4) in non-Hodgkin's lymphomas. This gene encodes a small G-like protein, and unlike most other small G proteins which are expressed ubiquitously, this gene is transcribed only in hemopoietic cells.
CHR: 4
STS: D4S3233|4|31133|D4S3233|seq_map|epcr
STS: STS-Z35227|4|64994|na|na|epcr
COMP: 3180|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A399[id]+AND+gene[obj_type]&QSTR=rhoh&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: TTF, translocation three four
ALIAS_PROT: rho-related GTP-binding protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=109918
UNIGENE: Hs.109918
OMIM: 602037
MAP: 4p13|RefSeq|C|
MAPLINK: default_human_gene|RHOH
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=399
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=399[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5983342
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004310
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004310
PMID: 12477932,11809807,9226377,7784061
GO: molecular function|GTP binding|IDA|GO:0005525|GOA|11809807
GO: molecular function|GTPase inhibitor activity|NAS|GO:0005095|GOA|11809807
GO: molecular function|Rho GTPase binding|NAS|GO:0017048|GOA|11809807
GO: biological process|T-cell differentiation|NAS|GO:0030217|GOA|11809807
GO: cellular component|cytoplasm|IDA|GO:0005737|GOA|11809807
GO: molecular function|kinase inhibitor activity|IDA|GO:0019210|GOA|11809807
GO: biological process|negative regulation of I-kappaB kinase/NF-kappaB cascade|IDA|GO:0043124|GOA|11809807
GO: biological process|regulation of transcription|NAS|GO:0045449|GOA|11809807
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>400
LOCUSID: 400
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001177|33946322|na
NP: NP_001168|4502227
CDD: KOG0072: GTP-binding ADP-ribosylation factor-like protein ARL1 [Intracellular trafficking, secretion, and vesicular transport]|17870|721|na|2.818960e+02
PRODUCT: ADP-ribosylation factor-like 1
ASSEMBLY: AK001489,AL701988,BX537387,CD686919
CONTIG: NT_019546.15|29802923|na|25269105|25283763|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_001177|33946322|na
XP: NP_001168|4502227|na
ACCNUM: AF493887|20147666|na|na|na
TYPE: m
PROT: AAM12601|20147667|1
ACCNUM: AK001489|7022777|na|na|na
TYPE: m
ACCNUM: AL701988|19685344|na|na|na
TYPE: m
ACCNUM: BC007000|13937800|na|na|na
TYPE: m
PROT: AAH07000|13937801|1
ACCNUM: BT007260|30583358|na|na|na
TYPE: m
PROT: AAP35924|30583359|1
ACCNUM: BX537387|31873275|na|na|na
TYPE: m
PROT: CAD97629|31873276|1
ACCNUM: CD686919|32204287|na|na|na
TYPE: m
ACCNUM: L28997|607027|na|na|na
TYPE: m
PROT: AAC37567|607028|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P40616|728888|0
OFFICIAL_SYMBOL: ARL1
OFFICIAL_GENE_NAME: ADP-ribosylation factor-like 1
ALIAS_SYMBOL: ARFL1
PREFERRED_PRODUCT: ADP-ribosylation factor-like 1
SUMMARY: Summary: The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner.
CHR: 12
STS: D12S1419|12|27009|D12S1419|seq_map|epcr
STS: STS-N98729|12|64258|na|seq_map|epcr
STS: RH98475|12|88620|na|seq_map|epcr
COMP: 20319|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A400[id]+AND+gene[obj_type]&QSTR=arl1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=372616
UNIGENE: Hs.372616
OMIM: 603425
MAP: 12q23.3|RefSeq|C|
MAPLINK: default_human_gene|ARL1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=400
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=400[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:321053
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001177
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001177
PMID: 14702039,12477932,9624189,7814376
GO: molecular function|GTP binding|IEA|GO:0005525|GOA|na
GO: molecular function|GTPase activity|TAS|GO:0003924|GOA|9624189
GO: molecular function|enzyme activator activity|TAS|GO:0008047|GOA|9624189
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>401
LOCUSID: 401
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005169|46249381|na
NP: NP_005160|46249382
CDD: KOG0484: Transcription factor PHOX2/ARIX, contains HOX domain [Transcription]|18280|397|na|1.572360e+02
PRODUCT: paired-like homeobox 2a
ASSEMBLY: BC041564,BQ890461
CONTIG: NT_033927.6|37541321|na|2149822|2154248|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_005169|46249381|na
XP: NP_005160|46249382|na
ACCNUM: AF022722|2583015|na|na|na
TYPE: g
PROT: AAB82744|2583019|1
ACCNUM: AF022723|2583016|na|na|na
TYPE: g
PROT: AAB82744|2583019|1
ACCNUM: AF022724|2583017|na|na|na
TYPE: g
PROT: AAB82744|2583019|1
ACCNUM: BC041564|27371329|na|na|na
TYPE: m
PROT: AAH41564|27371330|1
ACCNUM: BQ890461|22282475|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O14813|8134640|0
OFFICIAL_SYMBOL: PHOX2A
OFFICIAL_GENE_NAME: paired-like (aristaless) homeobox 2a
ALIAS_SYMBOL: ARIX
ALIAS_SYMBOL: FEOM2
ALIAS_SYMBOL: NCAM2
ALIAS_SYMBOL: PMX2A
ALIAS_SYMBOL: CFEOM2
ALIAS_SYMBOL: MGC52227
PREFERRED_PRODUCT: paired-like homeobox 2a
SUMMARY: Summary: The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2).
CHR: 11
COMP: 31296|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A401[id]+AND+gene[obj_type]&QSTR=phox2a&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: arix homeodomain protein
ALIAS_PROT: aristaless homeobox homolog
ALIAS_PROT: fibrosis of extraocular muscles, congenital, 2, autosomal recessive
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=276879
UNIGENE: Hs.276879
OMIM: 602753
MAP: 11q13.2|RefSeq|C|
MAPLINK: default_human_gene|PHOX2A
PHENOTYPE: Fibrosis of extraocular muscles, congenital, 2
PHENOTYPE_ID: 602078
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=401
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=401[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:698470
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9954480
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/698470
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005169
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005169
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=602078
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=602753
PMID: 14597037,12477932,11943777,11889467,11600883,10644760,9683611,8661014
GO: biological process|neurotransmitter metabolism|NR|GO:0042133|GOA|na
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: molecular function|transcription factor activity|NR|GO:0003700|GOA|8661014
GO: biological process|transcription from Pol II promoter|NR|GO:0006366|GOA|na
>>402
LOCUSID: 402
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001667|4502228|na
NP: NP_001658|4502229
CDD: cd00066: G protein alpha subunit|14802|81|na|3.511710e+01
CDD: smart00177: ARF-like small GTPases|14910|441|na|1.740650e+02
CDD: cd00154: Rab subfamily of small GTPases|5377|148|na|6.089610e+01
PRODUCT: ADP-ribosylation factor-like 2
ASSEMBLY: L13687
CONTIG: NT_033903.6|37541191|na|9954711|9962698|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001667|4502228|na
XP: NP_001658|4502229|na
ACCNUM: AF493888|20147668|na|na|na
TYPE: m
PROT: AAM12602|20147669|1
ACCNUM: BC002530|37589854|na|na|na
TYPE: m
PROT: AAH02530|12803413|1
ACCNUM: L13687|3009500|na|na|na
TYPE: m
PROT: AAC37606|3009501|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P36404|2828212|0
OFFICIAL_SYMBOL: ARL2
OFFICIAL_GENE_NAME: ADP-ribosylation factor-like 2
ALIAS_SYMBOL: ARFL2
PREFERRED_PRODUCT: ADP-ribosylation factor-like 2
SUMMARY: Summary:  The ADP-ribosylation factor (ARF) genes are small GTP-binding proteins of the RAS superfamily.  ARL2 is a member of a functionally distinct group of ARF-like genes.
CHR: 11
STS: SHGC-172584|-|182481|na|na|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80132
UNIGENE: Hs.80132
OMIM: 601175
MAP: 11q13|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601175">OMIM</a>|C|
MAPLINK: default_human_gene|ARL2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=402
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=402[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:235919
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001667
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001667
PMID: 12477932,12015966,10831612,8415637
GO: molecular function|GTP binding|NR|GO:0005525|GOA|na
GO: molecular function|GTPase inhibitor activity|TAS|GO:0005095|GOA|10831612
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
GO: biological process|tubulin folding|TAS|GO:0007021|GOA|10831612
>>403
LOCUSID: 403
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004311|38569402|na
NP: NP_004302|4757774
CDD: KOG0074: GTP-binding ADP-ribosylation factor-like protein ARL3 [General function prediction only]|17872|695|na|2.718810e+02
PRODUCT: ADP-ribosylation factor-like 3
ASSEMBLY: AA325516,AF038193,AW269939,BC008032,BC009841,BE780186,BQ638232,CD245572
CONTIG: NT_030059.11|37550928|na|23182014|23222716|-|10|reference
EVID: supported by alignment with mRNA
XM: NM_004311|38569402|na
XP: NP_004302|4757774|na
ACCNUM: AA325516|1977834|na|na|na
TYPE: m
ACCNUM: AF038193|2795913|na|na|na
TYPE: m
ACCNUM: AF493889|20147670|na|na|na
TYPE: m
PROT: AAM12603|20147671|1
ACCNUM: AW269939|6656969|na|na|na
TYPE: m
ACCNUM: BC008032|14125008|na|na|na
TYPE: m
ACCNUM: BC009841|33874771|na|na|na
TYPE: m
PROT: AAH09841|14602644|1
ACCNUM: BC025759|19343638|na|na|na
TYPE: m
ACCNUM: BE780186|10201384|na|na|na
TYPE: m
ACCNUM: BQ638232|21762691|na|na|na
TYPE: m
ACCNUM: CD245572|31006036|na|na|na
TYPE: m
ACCNUM: U07151|460624|na|na|na
TYPE: m
PROT: AAA21654|460625|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P36405|543851|0
OFFICIAL_SYMBOL: ARL3
OFFICIAL_GENE_NAME: ADP-ribosylation factor-like 3
ALIAS_SYMBOL: ARFL3
PREFERRED_PRODUCT: ADP-ribosylation factor-like 3
SUMMARY: Summary: ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity.
CHR: 10
STS: SHGC-12905|10|5867|na|seq_map|epcr
STS: A002G45|10|7759|na|seq_map|epcr
STS: RH41912|-|13986|na|na|epcr
COMP: 3181|10|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=10&MAPS=genes-r-org/rat-chr/human%3A10,genes-r-org/mouse-chr/human%3A10,genes-r-org/human-chr10&query=e%3A403[id]+AND+gene[obj_type]&QSTR=arl3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ARF-like 3
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=182215
UNIGENE: Hs.182215
OMIM: 604695
MAP: 10q23.3|RefSeq|C|
MAPLINK: default_human_gene|ARL3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=403
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=403[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:321054
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004311
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004311
PMID: 12477932,12107411,10072593,9110174,8619474,8034651,7566098
GO: biological process|G-protein coupled receptor protein signaling pathway|IEA|GO:0007186|GOA|na
GO: molecular function|GTP binding|TAS|GO:0005525|GOA|8034651
GO: molecular function|signal transducer activity|IEA|GO:0004871|GOA|na
GO: biological process|small GTPase mediated signal transduction|IEA|GO:0007264|GOA|na
>>404
LOCUSID: 404
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ARMD1
OFFICIAL_GENE_NAME: age-related macular degeneration 1 (senile macular degeneration)
ALIAS_SYMBOL: AMD
CHR: 1
STS: D1S466|1|25075|D1S466|seq_map|9715689
STS: D1S413|1|48280|D1S413|seq_map|9715689
OMIM: 603075
MAP: 1q25-q31|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603075">OMIM</a>|C|
MAPLINK: default_human_cyto|ARMD1
PHENOTYPE: Macular degeneration, age-related, 1
PHENOTYPE_ID: 603075
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9834180
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=603075
PMID: 9715689,9295268
>>405
LOCUSID: 405
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001668|30795243|na
NP: NP_001659|4502231
CDD: cd00130: PAS domain|5369|165|na|6.798170e+01
CDD: cd00083: Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors|16522|148|na|6.100310e+01
PRODUCT: aryl hydrocarbon receptor nuclear translocator isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longest isoform (1).
ASSEMBLY: BC028362,BC041121,M69238
NM: NM_178426|30795239|na
NP: NP_848513|30795240
CDD: cd00130: PAS domain|5369|112|na|4.756610e+01
CDD: cd00083: Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors|16522|141|na|5.830670e+01
PRODUCT: aryl hydrocarbon receptor nuclear translocator isoform 2
TRANSVAR: Transcript Variant: This variant (2) lacks several alternate segments, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to variant 1.
ASSEMBLY: AF001307,BC028362,BC041121
NM: NM_178427|30795241|na
NP: NP_848514|30795242
CDD: cd00130: PAS domain|5369|165|na|6.798170e+01
CDD: cd00083: Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors|16522|149|na|6.138830e+01
PRODUCT: aryl hydrocarbon receptor nuclear translocator isoform 3
TRANSVAR: Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a protein (isoform 3) that is shorter, compared to isoform 1.
ASSEMBLY: BC028362,BC041121,M69238
CONTIG: NT_032962.5|37546839|na|1272541|1339541|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_001668|30795243|na
XP: NP_001659|4502231|na
EVID: supported by alignment with mRNA
XM: NM_178426|30795239|na
XP: NP_848513|30795240|na
EVID: supported by alignment with mRNA
XM: NM_178427|30795241|na
XP: NP_848514|30795242|na
ACCNUM: Y18859|12232594|na|na|na
TYPE: g
PROT: CAC21446|12232595|1
ACCNUM: AF001307|2702318|na|na|na
TYPE: m
PROT: AAC03365|2702319|1
ACCNUM: AL137290|6807749|na|na|na
TYPE: m
ACCNUM: AL834279|21739853|na|na|na
TYPE: m
PROT: CAD38953|21739854|1
ACCNUM: BC028362|20306874|na|na|na
TYPE: m
ACCNUM: BC041121|27370682|na|na|na
TYPE: m
ACCNUM: BC060838|38173805|na|na|na
TYPE: m
PROT: AAH60838|38173806|1
ACCNUM: M69238|179003|na|na|na
TYPE: m
PROT: AAA51777|179004|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P27540|114163|0
OFFICIAL_SYMBOL: ARNT
OFFICIAL_GENE_NAME: aryl hydrocarbon receptor nuclear translocator
ALIAS_SYMBOL: HIF1B
ALIAS_SYMBOL: TANGO
ALIAS_SYMBOL: HIF1BETA
ALIAS_SYMBOL: HIF-1beta
PREFERRED_PRODUCT: aryl hydrocarbon receptor nuclear translocator isoform 1
PREFERRED_PRODUCT: aryl hydrocarbon receptor nuclear translocator isoform 2
PREFERRED_PRODUCT: aryl hydrocarbon receptor nuclear translocator isoform 3
SUMMARY: Summary: The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1 (HIF1). A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Three alternatively spliced variants encoding different isoforms have been described for this gene.
CHR: 1
STS: SGC30626|1|10143|na|seq_map|epcr
STS: D1S3284|1|19515|D1S3284|seq_map|epcr
STS: RH11989|1|38823|na|seq_map|epcr
STS: G15891|-|63653|na|na|epcr
STS: D1S3204|1|73864|D1S3204|seq_map|epcr
STS: WI-16757|1|77807|na|seq_map|epcr
STS: RH93022|1|88147|na|seq_map|epcr
STS: ARNT_2212|-|280450|na|na|epcr
COMP: 1261|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A405[id]+AND+gene[obj_type]&QSTR=arnt&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: dioxin receptor, nuclear translocator
ALIAS_PROT: hypoxia-inducible factor 1, beta subunit
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=131494
UNIGENE: Hs.131494
OMIM: 126110
MAP: 1q21|HUGO|C|
MAPLINK: default_human_gene|ARNT
PHENOTYPE: Leukemia, acute myeloblastic
PHENOTYPE_ID: 126110
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=405
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=405[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119701
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001668
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001668
DB_DESCR: KEGG pathway: Circadian rhythm
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04710+405
PMID: 15190133,14638687,12774124,12754377,12586752,12477932,12354770,12032587,12024042,11756572,11129342,10777486,9328285,8244375,8065341,1852076,1317062
GO: molecular function|aryl hydrocarbon receptor nuclear translocator activity|TAS|GO:0005061|GOA|1317062
GO: cellular component|nucleus|TAS|GO:0005634|GOA|1317062
GO: biological process|protein-nucleus import, translocation|NR|GO:0000060|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: molecular function|signal transducer activity|IEA|GO:0004871|GOA|na
GO: biological process|signal transduction|IEA|GO:0007165|GOA|na
GO: molecular function|transcription coactivator activity|TAS|GO:0003713|GOA|1317062
GO: molecular function|transcription factor activity|TAS|GO:0003700|GOA|1317062,10777486
>>406
LOCUSID: 406
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_001178|42716310|na
NP: NP_001169|42716311
CDD: cd00130: PAS domain|5369|165|na|6.798170e+01
CDD: pfam00010: Helix-loop-helix DNA-binding domain|25359|165|na|6.740360e+01
CDD: KOG3561: Aryl-hydrocarbon receptor nuclear translocator [Transcription]|21344|1183|na|4.599560e+02
PRODUCT: aryl hydrocarbon receptor nuclear translocator-like
ASSEMBLY: BC041129
CONTIG: NT_009237.16|37541814|na|12063318|12172753|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_001178|42716310|na
XP: NP_001169|42716311|na
ACCNUM: AB000812|2094734|na|na|na
TYPE: m
PROT: BAA19935|2094735|1
ACCNUM: AB000814|2094738|na|na|na
TYPE: m
PROT: BAA19937|2094739|1
ACCNUM: AB000815|2094740|na|na|na
TYPE: m
PROT: BAA19938|2094741|1
ACCNUM: AB000816|2094742|na|na|na
TYPE: m
PROT: BAA19939|2094743|1
ACCNUM: AF044288|3170266|na|na|na
TYPE: m
PROT: AAC24353|3170267|1
ACCNUM: AK095749|21755078|na|na|na
TYPE: m
ACCNUM: AK128317|34535629|na|na|na
TYPE: m
PROT: BAC87381|34535630|1
ACCNUM: BC016674|16741760|na|na|na
TYPE: m
ACCNUM: BC031214|21410583|na|na|na
TYPE: m
ACCNUM: BC041129|26996535|na|na|na
TYPE: m
PROT: AAH41129|37589937|2
ACCNUM: D89722|2104215|na|na|na
TYPE: m
PROT: BAA19968|2104216|1
ACCNUM: U51627|1695802|na|na|na
TYPE: m
PROT: AAC51213|1695803|1
ACCNUM: U60415|1698575|na|na|na
TYPE: m
PROT: AAB37248|1698576|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O00327|33860123|0
OFFICIAL_SYMBOL: ARNTL
OFFICIAL_GENE_NAME: aryl hydrocarbon receptor nuclear translocator-like
ALIAS_SYMBOL: TIC
ALIAS_SYMBOL: JAP3
ALIAS_SYMBOL: MOP3
ALIAS_SYMBOL: BMAL1
ALIAS_SYMBOL: MGC47515
PREFERRED_PRODUCT: aryl hydrocarbon receptor nuclear translocator-like
CHR: 11
COMP: 910|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A406[id]+AND+gene[obj_type]&QSTR=arntl&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=65734
UNIGENE: Hs.65734
OMIM: 602550
MAP: 11p15|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602550">OMIM</a>|C|
MAPLINK: default_human_gene|ARNTL
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=406
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=406[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9499440
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001178
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001178
DB_DESCR: KEGG pathway: Circadian rhythm
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04710+406
PMID: 14702039,12897057,12477932,11875063,9616112,9576906,9144434,9079689
GO: biological process|circadian rhythm|TAS|GO:0007623|GOA|9616112
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: molecular function|signal transducer activity|IEA|GO:0004871|GOA|na
GO: biological process|signal transduction|IEA|GO:0007165|GOA|na
GO: molecular function|transcription factor activity|IEA|GO:0003700|GOA|na
>>407
LOCUSID: 407
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_004312|4757775|na
NP: NP_004303|4757776
CDD: KOG3865: Arrestin [Signal transduction mechanisms]|21644|1486|na|5.765040e+02
PRODUCT: arrestin 3, retinal (X-arrestin)
ASSEMBLY: AF033105
CONTIG: NT_011669.14|37546327|na|7806190|7819678|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_004312|4757775|na
XP: NP_004303|4757776|na
ACCNUM: AF076512|3342144|na|na|na
TYPE: g
PROT: AAC27524|3342146|1
ACCNUM: AF033105|2613150|na|na|na
TYPE: m
PROT: AAB84302|2613151|1
ACCNUM: BC012096|15082366|na|na|na
TYPE: m
PROT: AAH12096|15082367|1
ACCNUM: CR456849|48145814|na|na|na
TYPE: m
PROT: CAG33130|48145815|1
ACCNUM: U03626|3892696|na|na|na
TYPE: m
PROT: AAC78395|3892697|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P36575|543854|0
OFFICIAL_SYMBOL: ARR3
OFFICIAL_GENE_NAME: arrestin 3, retinal (X-arrestin)
ALIAS_SYMBOL: ARRX
PREFERRED_PRODUCT: arrestin 3, retinal (X-arrestin)
CHR: X
STS: SHGC-30005|X|45107|na|seq_map|epcr
COMP: 3182|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A407[id]+AND+gene[obj_type]&QSTR=arr3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Arrestin 3, retinal
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=308
UNIGENE: Hs.308
OMIM: 301770
MAP: Xcen-q21|RefSeq|C|
MAPLINK: default_human_gene|ARR3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=407
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=407[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:269808
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004312
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004312
PMID: 12918707,12850288,12477932,11877451,8612728,8308033,8224247
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|8224247
GO: biological process|sensory perception|IEA|GO:0007600|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|8224247
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|8224247
GO: biological process|visual perception|TAS|GO:0007601|GOA|8224247
>>408
LOCUSID: 408
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004041|10880135|na
NP: NP_004032|10880136
CDD: KOG3865: Arrestin [Signal transduction mechanisms]|21644|1406|na|5.456880e+02
PRODUCT: arrestin beta 1 isoform A
TRANSVAR: Transcript Variant:  This variant (1) contains an in-frame 24 base pair sequence which encodes an additional 8 amino acids, as compared to transcript variant 2.
ASSEMBLY: AF084040
NM: NM_020251|10880133|na
NP: NP_064647|10880134
CDD: KOG3865: Arrestin [Signal transduction mechanisms]|21644|1405|na|5.453030e+02
PRODUCT: arrestin beta 1 isoform B
TRANSVAR: Transcript Variant:  This variant (2) lacks an in-frame 24 base pair sequence, and thus encodes a protein which is 8 amino acids shorter than that encoded by transcript variant 1.
ASSEMBLY: AF084940
CONTIG: NT_033927.6|37541321|na|5176192|5224717|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_004041|10880135|na
XP: NP_004032|10880136|na
EVID: supported by alignment with mRNA
XM: NM_020251|10880133|na
XP: NP_064647|10880134|na
ACCNUM: AF084040|3493146|na|na|na
TYPE: m
PROT: AAC33295|3493147|1
ACCNUM: AF084940|3514098|na|na|na
TYPE: m
PROT: AAC34123|3514099|1
ACCNUM: BC003636|33872656|na|na|na
TYPE: m
PROT: AAH03636|13177715|1
ACCNUM: BQ883950|22275958|na|na|na
TYPE: m
ACCNUM: BX402200|46921534|na|na|na
TYPE: m
ACCNUM: CB853136|30048274|na|na|na
TYPE: m
ACCNUM: L04685|347956|na|na|na
TYPE: m
PROT: AAA35558|347957|1
PROT: AAA35559|347958|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P49407|20141238|0
OFFICIAL_SYMBOL: ARRB1
OFFICIAL_GENE_NAME: arrestin, beta 1
ALIAS_SYMBOL: ARB1
ALIAS_SYMBOL: ARR1
PREFERRED_PRODUCT: arrestin beta 1 isoform A
PREFERRED_PRODUCT: arrestin beta 1 isoform B
SUMMARY: Summary:  Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals.  Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors.  Besides the central nervous system, it is expressed at high levels in  peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions.  Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described, however, their exact functions are not known.
CHR: 11
STS: D11S4555|-|28841|D11S4555|na|epcr
STS: WI-21016|11|68132|na|seq_map|epcr
STS: D11S1007|-|92417|D11S1007|na|epcr
COMP: 2981|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A408[id]+AND+gene[obj_type]&QSTR=arrb1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=112278
UNIGENE: Hs.112278
OMIM: 107940
MAP: 11q13|HUGO|C|
MAPLINK: default_human_gene|ARRB1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=408
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=408[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:141541
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004041
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004041
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+408
PMID: 15084596,14711824,12582207,12538596,12477932,12464600,12220636,11726668,10823817,9924018,9668034,8889548,8486659,7896272,2163110
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|10823817
GO: molecular function|enzyme inhibitor activity|TAS|GO:0004857|GOA|2163110
GO: cellular component|heterotrimeric G-protein complex|TAS|GO:0005834|GOA|10823817
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|9924018,10823817
GO: biological process|sensory perception|IEA|GO:0007600|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|9924018
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|9924018
>>409
LOCUSID: 409
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004313|39812034|na
NP: NP_004304|4757780
CDD: KOG3865: Arrestin [Signal transduction mechanisms]|21644|1442|na|5.595550e+02
PRODUCT: arrestin beta 2 isoform 1
TRANSVAR: Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).
ASSEMBLY: AF106941,BC007427,BG723452
NM: NM_199004|39812054|na
NP: NP_945355|39812055
CDD: KOG3865: Arrestin [Signal transduction mechanisms]|21644|1425|na|5.530070e+02
PRODUCT: arrestin beta 2 isoform 2
TRANSVAR: Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform (2) is thus missing an internal segment, as compared to isoform 1.
ASSEMBLY: AF106941,AK097542,BC007427,BG723452
CONTIG: NT_010718.14|37543500|na|3460819|3471825|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_004313|39812034|na
XP: NP_004304|4757780|na
EVID: supported by alignment with mRNA
XM: NM_199004|39812054|na
XP: NP_945355|39812055|na
ACCNUM: AF106941|4092782|na|na|na
TYPE: m
PROT: AAC99468|4092783|1
ACCNUM: AK097542|21757342|na|na|na
TYPE: m
PROT: BAC05094|21757343|1
ACCNUM: BC007427|38114644|na|na|na
TYPE: m
PROT: AAH07427|13938555|1
ACCNUM: BC039066|25059050|na|na|na
TYPE: m
ACCNUM: BC067368|45501178|na|na|na
TYPE: m
PROT: AAH67368|45501179|1
ACCNUM: BG723452|14002639|na|na|na
TYPE: m
ACCNUM: CR450310|47496566|na|na|na
TYPE: m
PROT: CAG29306|47496567|1
ACCNUM: Z11501|28850|na|na|na
TYPE: m
PROT: CAA77577|28851|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P32121|20141230|0
OFFICIAL_SYMBOL: ARRB2
OFFICIAL_GENE_NAME: arrestin, beta 2
ALIAS_SYMBOL: ARB2
ALIAS_SYMBOL: ARR2
PREFERRED_PRODUCT: arrestin beta 2 isoform 1
PREFERRED_PRODUCT: arrestin beta 2 isoform 2
SUMMARY: Summary: Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined.
CHR: 17
STS: RH18345|17|63295|na|seq_map|epcr
STS: WI-11146|17|66993|na|seq_map|epcr
COMP: 3183|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A409[id]+AND+gene[obj_type]&QSTR=arrb2&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435811
UNIGENE: Hs.435811
OMIM: 107941
MAP: 17p13|HUGO|C|
MAPLINK: default_human_gene|ARRB2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=409
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=409[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:141542
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004313
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004313
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+409
DB_DESCR: PharmGKB: PA60
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA60
PMID: 15125834,14769794,14711824,14702039,12958365,12958364,12949261,12582207,12488444,12477932,12464600,12370187,12186555,11867621,9668034,9346876,7695743,1587386,1517224
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|9346876
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|9346876
GO: biological process|sensory perception|IEA|GO:0007600|GOA|na
GO: biological process|signal transduction|IEA|GO:0007165|GOA|na
>>410
LOCUSID: 410
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000487|7262293|na
NP: NP_000478|6005990
CDD: KOG3867: Sulfatase [General function prediction only]|21646|922|na|3.592990e+02
PRODUCT: arylsulfatase A precursor
ASSEMBLY: U62317,X52151
CONTIG: NT_011526.5|29807563|na|258312|261439|-|22|reference
EVID: supported by alignment with mRNA
XM: NM_000487|7262293|na
XP: NP_000478|6005990|na
ACCNUM: AY271820|30016942|na|na|na
TYPE: g
PROT: AAP03431|30016943|1
ACCNUM: U62317|6862558|na|na|na
TYPE: g
PROT: AAB03341|1399961|1
ACCNUM: X52150|28859|na|na|na
TYPE: g
PROT: CAA36398|28860|1
ACCNUM: AK092752|21751422|na|na|na
TYPE: m
ACCNUM: AK098659|21758734|na|na|na
TYPE: m
ACCNUM: BC014210|33874702|na|na|na
TYPE: m
PROT: AAH14210|33874703|2
ACCNUM: BX648618|34367780|na|na|na
TYPE: m
ACCNUM: CR456383|47678296|na|na|na
TYPE: m
PROT: CAG30269|47678297|1
ACCNUM: X52151|28857|na|na|na
TYPE: m
PROT: CAA36399|28858|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P15289|114221|0
OFFICIAL_SYMBOL: ARSA
OFFICIAL_GENE_NAME: arylsulfatase A
ALIAS_SYMBOL: MLD
PREFERRED_PRODUCT: arylsulfatase A precursor
SUMMARY: Summary: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death.
CHR: 22
STS: GDB:631842|-|158436|na|na|epcr
COMP: 20138|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A410[id]+AND+gene[obj_type]&QSTR=arsa&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=88251
UNIGENE: Hs.88251
OMIM: 607574
ECNUM: 3.1.6.8
MAP: 22q13.31-qter|HUGO|C|22q13.33|RefSeq|C|
MAPLINK: default_human_gene|ARSA
PHENOTYPE: Metachromatic leukodystrophy
PHENOTYPE_ID: 250100
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=410
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=410[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119007
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000487
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000487
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=250100
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=607574
DB_DESCR: KEGG pathway: Glycosphingolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+410
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+410
PMID: 15026521,14702039,12888274,12788103,12477932,12459318,11941485,11333871,10493829,7192199,2562955,1975241,1352356,36611
GO: molecular function|arylsulfatase activity|TAS|GO:0004065|GOA|2562955
GO: molecular function|cerebroside-sulfatase activity|IEA|GO:0004098|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|lysosome|TAS|GO:0005764|GOA|2562955
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|sphingolipid metabolism|IEA|GO:0006665|GOA|na
>>411
LOCUSID: 411
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000046|38569404|na
NP: NP_000037|38569405
CDD: KOG3867: Sulfatase [General function prediction only]|21646|1019|na|3.966640e+02
PRODUCT: arylsulfatase B isoform 1 precursor
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform (1).
ASSEMBLY: AI244301,AI457798,AK026942,AL135624,AW236748,BC036609,BM664932,BQ216635,BQ775217,BX350102,BX364854,BX369127,J05225,M32373
NM: NM_198709|38569406|na
NP: NP_942002|38569407
CDD: KOG3867: Sulfatase [General function prediction only]|21646|899|na|3.504400e+02
PRODUCT: arylsulfatase B isoform 2 precursor
TRANSVAR: Transcript Variant: This variant (2) has an alternate 3' sequence, as compared to variant 1. The resulting isoform 2 has a distinct and shorter C-terminus, as compared to isoform 1.
ASSEMBLY: AI821478,BC029051
CONTIG: NT_006713.13|29799535|na|7465164|7674489|-|5|reference
EVID: supported by alignment with mRNA
XM: NM_000046|38569404|na
XP: NP_000037|38569405|na
EVID: supported by alignment with mRNA
XM: NM_198709|38569406|na
XP: NP_942002|38569407|na
ACCNUM: S57777|236697|na|na|na
TYPE: g
PROT: AAB19988|236698|1
ACCNUM: X72735|289009|na|na|na
TYPE: g
PROT: CAA51272|825628|1
ACCNUM: AI244301|3839698|na|na|na
TYPE: m
ACCNUM: AI457798|4310667|na|na|na
TYPE: m
ACCNUM: AI821478|5440557|na|na|na
TYPE: m
ACCNUM: AK026942|10439919|na|na|na
TYPE: m
ACCNUM: AL135624|6603811|na|na|na
TYPE: m
ACCNUM: AW236748|6569137|na|na|na
TYPE: m
ACCNUM: BC029051|20809798|na|na|na
TYPE: m
PROT: AAH29051|20809799|1
ACCNUM: BC036609|34194430|na|na|na
TYPE: m
ACCNUM: BM664932|18971425|na|na|na
TYPE: m
ACCNUM: BQ216635|20398035|na|na|na
TYPE: m
ACCNUM: BQ775217|21983693|na|na|na
TYPE: m
ACCNUM: BX350102|30381443|na|na|na
TYPE: m
ACCNUM: BX364854|46286055|na|na|na
TYPE: m
ACCNUM: BX369127|46572050|na|na|na
TYPE: m
ACCNUM: J05225|179076|na|na|na
TYPE: m
PROT: AAA51784|179077|1
ACCNUM: M32373|179029|na|na|na
TYPE: m
PROT: AAA51779|179030|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P15848|114223|0
OFFICIAL_SYMBOL: ARSB
OFFICIAL_GENE_NAME: arylsulfatase B
ALIAS_SYMBOL: ASB
ALIAS_SYMBOL: G4S
ALIAS_SYMBOL: MPS6
PREFERRED_PRODUCT: arylsulfatase B isoform 1 precursor
PREFERRED_PRODUCT: arylsulfatase B isoform 2 precursor
SUMMARY: Summary: Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Defects in this gene cause Maroteaux-Lamy syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
CHR: 5
STS: SHGC-36383|5|16337|na|seq_map|epcr
STS: STS-M32373|5|32635|na|seq_map|epcr
STS: SHGC-12391|5|73527|na|seq_map|epcr
STS: GDB:180337|5|155076|na|seq_map|epcr
COMP: 20061|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A411[id]+AND+gene[obj_type]&QSTR=arsb&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: N-acetylgalactosamine-4-sulfatase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=149103
UNIGENE: Hs.149103
OMIM: 253200
ECNUM: 3.1.6.12
MAP: 5p11-q13|HUGO|C|5q11-q13|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253200">OMIM</a>|C|
MAPLINK: default_human_gene|ARSB
PHENOTYPE: Maroteaux-Lamy syndrome, several forms
PHENOTYPE_ID: 253200
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=411
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=411[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119008
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000046
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000046
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=253200
DB_DESCR: KEGG pathway: Glycosaminoglycan degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00531+411
PMID: 14974081,12477932,11668612,8889548,7687847,2303452,1968043,1930244,1718978
GO: molecular function|N-acetylgalactosamine-4-sulfatase activity|IEA|GO:0003943|GOA|na
GO: molecular function|arylsulfatase activity|TAS|GO:0004065|GOA|2303452
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|glycosaminoglycan metabolism|IEA|GO:0030203|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|lysosomal transport|TAS|GO:0007041|GOA|2303452
GO: cellular component|lysosome|TAS|GO:0005764|GOA|2303452
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
>>412
LOCUSID: 412
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_000351|13162281|na
NP: NP_000342|4502237
CDD: KOG3867: Sulfatase [General function prediction only]|21646|1475|na|5.723150e+02
PRODUCT: steryl-sulfatase precursor
ASSEMBLY: M16505
CONTIG: NT_011757.13|37546406|na|3204141|3339495|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_000351|13162281|na
XP: NP_000342|4502237|na
ACCNUM: M23556|338605|na|na|na
TYPE: g
PROT: AAA60599|338608|1
ACCNUM: M23945|338604|na|na|na
TYPE: g
PROT: AAA60598|338607|1
ACCNUM: BC075030|50960738|na|na|na
TYPE: m
PROT: AAH75030|50960739|1
ACCNUM: J04964|338564|na|na|na
TYPE: m
PROT: AAA60597|338565|1
ACCNUM: M16505|338513|na|na|na
TYPE: m
PROT: AAA60596|338514|1
ACCNUM: M17591|338553|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P08842|135006|0
OFFICIAL_SYMBOL: STS
OFFICIAL_GENE_NAME: steroid sulfatase (microsomal), arylsulfatase C, isozyme S
ALIAS_SYMBOL: ES
ALIAS_SYMBOL: ASC
ALIAS_SYMBOL: ARSC
ALIAS_SYMBOL: SSDD
ALIAS_SYMBOL: ARSC1
PREFERRED_PRODUCT: steryl-sulfatase precursor
CHR: X
STS: STS-R67209|X|22869|na|seq_map|epcr
STS: STS-M16505|X|24754|na|seq_map|epcr
STS: DXS7500|X|25534|DXS7500|seq_map|epcr
STS: STS-N23221|X|54230|na|seq_map|epcr
STS: WI-14685|X|71771|na|seq_map|epcr
STS: GDB:293965|X|99354|na|seq_map|epcr
STS: STS|-|99520|na|na|epcr
STS: G42690|X|140877|na|seq_map|epcr
STS: DXS6767|X|149833|DXS6767|seq_map|epcr
COMP: 20111|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/human-chrX&query=e%3A412[id]+AND+gene[obj_type]&QSTR=sts&cmd=focus&fill=10|Rat
ALIAS_PROT: arylsulfatase C
ALIAS_PROT: estrone sulfatase
ALIAS_PROT: steryl-sulfate sulfohydrolase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79876
UNIGENE: Hs.79876
OMIM: 308100
ECNUM: 3.1.6.2
MAP: Xp22.32|HUGO|C|
MAPLINK: default_human_gene|STS
PHENOTYPE: Ichthyosis, X-linked
PHENOTYPE_ID: 308100
PHENOTYPE: Placental steroid sulfatase deficiency
PHENOTYPE_ID: 308100
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=412
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=412[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120393
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000351
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000351
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=308100
DB_DESCR: KEGG pathway: Androgen and estrogen metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00150+412
PMID: 15152080,15056284,15009711,14507642,12657638,12477932,12231117,11996939,11886493,11844872,9252398,6957717,3034252,3032454,2668275
GO: cellular component|Golgi apparatus|TAS|GO:0005794|GOA|2668275
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: cellular component|endoplasmic reticulum|TAS|GO:0005783|GOA|2668275
GO: cellular component|endosome|TAS|GO:0005768|GOA|2668275
GO: biological process|epidermis development|TAS|GO:0008544|GOA|9252398
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|lysosome|TAS|GO:0005764|GOA|2668275
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|2668275
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: cellular component|microsome|TAS|GO:0005792|GOA|6957717
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|2668275
GO: biological process|pregnancy|IEA|GO:0007565|GOA|na
GO: biological process|steroid catabolism|TAS|GO:0006706|GOA|6957717
GO: molecular function|steryl-sulfatase activity|TAS|GO:0004773|GOA|2668275
>>413
LOCUSID: 413
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ARSC2
OFFICIAL_GENE_NAME: arylsulfatase C, isozyme F
ALIAS_SYMBOL: ARSC
CHR: X
ALIAS_PROT: Arylsulfatase C, f form
OMIM: 301780
MAP: Xpter-p22.32|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301780">OMIM</a>|C|
MAPLINK: default_human_cyto|ARSC2
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119702
PMID: 1690506
>>414
LOCUSID: 414
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001669|4502238|na
NP: NP_001660|4502239
CDD: KOG3867: Sulfatase [General function prediction only]|21646|1476|na|5.727000e+02
PRODUCT: arylsulfatase D isoform a precursor
TRANSVAR: Transcript Variant: This splice variant (1) diverges from transcript variant 2 in the COOH terminus.
ASSEMBLY: X83572
NM: NM_009589|6806884|na
NP: NP_033667|6806885
CDD: KOG3867: Sulfatase [General function prediction only]|21646|867|na|3.381130e+02
PRODUCT: arylsulfatase D isoform b precursor
TRANSVAR: Transcript Variant: This splice variant (2) diverges from transcript variant 1 in the COOH terminus
ASSEMBLY: AF160499
CONTIG: NT_025302.12|37546463|na|506919|529079|-|X|reference
EVID: supported by alignment with mRNA
XM: NM_001669|4502238|na
XP: NP_001660|4502239|na
EVID: supported by alignment with mRNA
XM: NM_009589|6806884|na
XP: NP_033667|6806885|na
ACCNUM: AF160499|6651285|na|na|na
TYPE: m
PROT: AAF22253|6651286|1
ACCNUM: AK021472|10432664|na|na|na
TYPE: m
ACCNUM: AK055239|16549927|na|na|na
TYPE: m
ACCNUM: BC020229|18044234|na|na|na
TYPE: m
PROT: AAH20229|18044235|1
ACCNUM: X83572|791001|na|na|na
TYPE: m
PROT: CAA58555|791002|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P51689|1703425|0
OFFICIAL_SYMBOL: ARSD
OFFICIAL_GENE_NAME: arylsulfatase D
PREFERRED_PRODUCT: arylsulfatase D isoform a precursor
PREFERRED_PRODUCT: arylsulfatase D isoform b precursor
SUMMARY: Summary: The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. This encoded protein is postranslationally glycosylated and localized to the lysosome. Two splice variants of this gene have been identified.
CHR: X
STS: RH66803|X|26061|na|seq_map|epcr
STS: RH1702|X|53464|na|seq_map|epcr
STS: RH36003|X|77343|na|seq_map|epcr
STS: RH38684|-|85472|na|na|epcr
STS: G42687|X|140874|na|seq_map|epcr
STS: GDB:595531|-|158026|na|na|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=528631
UNIGENE: Hs.528631
OMIM: 300002
ECNUM: 3.1.6.1
MAP: Xp22.3|HUGO|C|
MAPLINK: default_human_gene|ARSD
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=414
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=414[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:555723
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_009589
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_009589
DB_DESCR: KEGG pathway: Glycosphingolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+414
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+414
DB_DESCR: KEGG pathway: Androgen and estrogen metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00150+414
PMID: 14702039,12477932,11177574,8845834,7720070
GO: molecular function|arylsulfatase activity|TAS|GO:0004065|GOA|7720070
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|lysosome|IEA|GO:0005764|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|sulfuric ester hydrolase activity|IEA|GO:0008484|GOA|na
>>415
LOCUSID: 415
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000047|4502240|na
NP: NP_000038|4502241
CDD: KOG3867: Sulfatase [General function prediction only]|21646|1436|na|5.572920e+02
PRODUCT: arylsulfatase E precursor
ASSEMBLY: X83573
CONTIG: NT_025302.12|37546463|na|534539|563998|-|X|reference
EVID: supported by alignment with mRNA
XM: NM_000047|4502240|na
XP: NP_000038|4502241|na
ACCNUM: X83573|791003|na|na|na
TYPE: m
PROT: CAA58556|791004|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P51690|1703426|0
OFFICIAL_SYMBOL: ARSE
OFFICIAL_GENE_NAME: arylsulfatase E (chondrodysplasia punctata 1)
ALIAS_SYMBOL: CDPX
ALIAS_SYMBOL: CDPX1
ALIAS_SYMBOL: CDPXR
PREFERRED_PRODUCT: arylsulfatase E precursor
SUMMARY: Summary: Arylsulfatase E is a member of the sulfatase family.  ARSE is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix.  X-linked chondrodysplasia punctata (CDPX), a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene.
CHR: X
STS: RH75499|-|86464|na|na|epcr
STS: RH66804|-|87567|na|na|epcr
STS: G42688|X|140875|na|seq_map|epcr
STS: GDB:595763|-|158028|na|na|epcr
ALIAS_PROT: Arylsulfatase E
ALIAS_PROT: chondrodysplasia punctata 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=386975
UNIGENE: Hs.386975
OMIM: 300180
ECNUM: 3.1.6.1
MAP: Xp22.3|HUGO|C|
MAPLINK: default_human_gene|ARSE
PHENOTYPE: Chondrodysplasia punctata, X-linked recessive
PHENOTYPE_ID: 302950
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=415
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=415[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:555743
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/555743.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000047
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000047
DB_DESCR: KEGG pathway: Glycosphingolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+415
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+415
DB_DESCR: KEGG pathway: Androgen and estrogen metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00150+415
PMID: 9497243,9192838,8845834,7720070
GO: molecular function|arylsulfatase activity|TAS|GO:0004065|GOA|9192838
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|skeletal development|TAS|GO:0001501|GOA|7720070
>>416
LOCUSID: 416
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004042|31742481|na
NP: NP_004033|31742482
CDD: KOG3867: Sulfatase [General function prediction only]|21646|1480|na|5.742410e+02
PRODUCT: arylsulfatase F precursor
ASSEMBLY: BQ228278,X97868
CONTIG: NT_025302.12|37546463|na|666540|712434|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_004042|31742481|na
XP: NP_004033|31742482|na
ACCNUM: BC022389|18490636|na|na|na
TYPE: m
PROT: AAH22389|18490637|1
ACCNUM: BQ228278|20409678|na|na|na
TYPE: m
ACCNUM: X97868|2576304|na|na|na
TYPE: m
PROT: CAA66462|2576305|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P54793|5915693|0
OFFICIAL_SYMBOL: ARSF
OFFICIAL_GENE_NAME: arylsulfatase F
ALIAS_SYMBOL: ASF
PREFERRED_PRODUCT: arylsulfatase F precursor
SUMMARY: Summary: This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin.
CHR: X
STS: DXS1233|-|26026|DXS1233|na|epcr
STS: G30983|X|49071|na|seq_map|epcr
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=101674
UNIGENE: Hs.101674
OMIM: 300003
ECNUM: 3.1.6.-
MAP: Xp22.3|HUGO|C|
MAPLINK: default_human_gene|ARSF
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=416
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:555747
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004042
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004042
PMID: 12477932,9192838,7720070
GO: molecular function|arylsulfatase activity|TAS|GO:0004065|GOA|9192838
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|sulfuric ester hydrolase activity|IEA|GO:0008484|GOA|na
>>417
LOCUSID: 417
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004314|4757783|na
NP: NP_004305|4757784
CDD: pfam01129: NAD:arginine ADP-ribosyltransferase|16897|1009|na|3.928150e+02
PRODUCT: ADP-ribosyltransferase 1
ASSEMBLY: S74683
CONTIG: NT_009237.16|37541814|na|2430301|2449586|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_004314|4757783|na
XP: NP_004305|4757784|na
ACCNUM: AJ291430|15667373|na|na|na
TYPE: m
PROT: CAC69964|15667374|1
ACCNUM: BC069102|46575609|na|na|na
TYPE: m
PROT: AAH69102|46575610|1
ACCNUM: S74683|807099|na|na|na
TYPE: m
PROT: AAB32387|807100|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P52961|1709226|0
OFFICIAL_SYMBOL: ART1
OFFICIAL_GENE_NAME: ADP-ribosyltransferase 1
ALIAS_SYMBOL: RT6
ALIAS_SYMBOL: ART2
PREFERRED_PRODUCT: ADP-ribosyltransferase 1
SUMMARY: Summary: ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2
CHR: 11
COMP: 3184|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A417[id]+AND+gene[obj_type]&QSTR=art1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ADP-ribosyltransferase 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=382188
UNIGENE: Hs.382188
OMIM: 601625
MAP: 11p15|HUGO|C|
MAPLINK: default_human_gene|ART1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=417
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=417[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5302695
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004314
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004314
PMID: 12477932,9119374,8812442,7947688
GO: molecular function|NAD(P)+-protein-arginine ADP-ribosyltransferase activity|IEA|GO:0003956|GOA|na
GO: molecular function|NAD+ ADP-ribosyltransferase activity|TAS|GO:0003950|GOA|7947688
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|7947688
GO: biological process|protein amino acid ADP-ribosylation|TAS|GO:0006471|GOA|7947688
GO: molecular function|transferase activity, transferring glycosyl groups|IEA|GO:0016757|GOA|na
>>418
LOCUSID: 418
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001076|29789822|na|1|690
CONTIG: NT_033927.6|37541321|na|2431024|2431713|+|11|na
EVID: alignment with NG_001076
XG: NG_001076|29789822|na
ACCNUM: X65050|563371|na|1|690
TYPE: g
OFFICIAL_SYMBOL: ART2P
OFFICIAL_GENE_NAME: ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat)
ALIAS_SYMBOL: RT6
ALIAS_SYMBOL: ART1P
CHR: 11
ALIAS_PROT: RT6 antigen (rat) homolog
ALIAS_PROT: ADP-ribosyltransferase 2 pseudogene (RT6 antigen (rat) homolog)
MAP: 11q13|HUGO|C|
MAPLINK: default_human_gene|ART2P
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=418
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:139097
PMID: 8812442,8005606,7966280
>>419
LOCUSID: 419
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001179|21361166|na
NP: NP_001170|21361167
CDD: pfam01129: NAD:arginine ADP-ribosyltransferase|16897|885|na|3.450500e+02
PRODUCT: ADP-ribosyltransferase 3
ASSEMBLY: BC017913
CONTIG: NT_016354.16|37539910|na|1490568|1528646|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_001179|21361166|na
XP: NP_001170|21361167|na
ACCNUM: X95827|1495418|na|na|na
TYPE: g
PROT: CAA65096|1495419|1
ACCNUM: BC008397|14250009|na|na|na
TYPE: m
PROT: AAH08397|14250010|1
ACCNUM: BC017913|17389806|na|na|na
TYPE: m
PROT: AAH17913|17389807|1
ACCNUM: U47054|1226245|na|na|na
TYPE: m
PROT: AAB01894|1226246|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13508|22261808|0
OFFICIAL_SYMBOL: ART3
OFFICIAL_GENE_NAME: ADP-ribosyltransferase 3
PREFERRED_PRODUCT: ADP-ribosyltransferase 3
CHR: 4
STS: SHGC4-1683|-|55953|na|na|epcr
STS: D4S478|-|56176|D4S478|na|epcr
STS: SHGC-59623|4|57602|na|seq_map|epcr
STS: G34355|-|71487|na|na|epcr
STS: SHGC-147296|-|175727|na|na|epcr
COMP: 911|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/rat-chr/human%3A4,genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A419[id]+AND+gene[obj_type]&QSTR=art3&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=24976
UNIGENE: Hs.24976
OMIM: 603086
MAP: 4p15.1-p14|HUGO|C|4p15.1-p14|RefSeq|C|4p15.1-p14|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603086">OMIM</a>|C|
MAPLINK: default_human_gene|ART3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=419
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=419[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9835682
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001179
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001179
PMID: 12477932,9119374,8605984
GO: molecular function|NAD(P)+-protein-arginine ADP-ribosyltransferase activity|IEA|GO:0003956|GOA|na
GO: molecular function|NAD+ ADP-ribosyltransferase activity|TAS|GO:0003950|GOA|9119374
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|9119374
GO: biological process|protein amino acid ADP-ribosylation|TAS|GO:0006471|GOA|9119374
GO: molecular function|transferase activity, transferring glycosyl groups|IEA|GO:0016757|GOA|na
>>420
LOCUSID: 420
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_021071|12711661|na
NP: NP_066549|12711662
CDD: pfam01129: NAD:arginine ADP-ribosyltransferase|16897|514|na|2.021410e+02
PRODUCT: Dombrock blood group
ASSEMBLY: AF290204
CONTIG: NT_009714.16|37543832|na|7741221|7755120|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_021071|12711661|na
XP: NP_066549|12711662|na
ACCNUM: AF340233|12963462|na|na|na
TYPE: g
PROT: AAK11274|12963463|1
ACCNUM: AF340234|12963464|na|na|na
TYPE: g
PROT: AAK11275|12963465|1
ACCNUM: AF382213|20385810|na|na|na
TYPE: g
PROT: AAM21462|20385811|1
ACCNUM: AF382216|20385817|na|na|na
TYPE: g
PROT: AAM21464|20385818|1
ACCNUM: AF382219|20385822|na|na|na
TYPE: g
PROT: AAM21465|20385823|1
ACCNUM: AF382222|20385827|na|na|na
TYPE: g
PROT: AAM21466|20385828|1
ACCNUM: AF382225|20385832|na|na|na
TYPE: g
PROT: AAM21467|20385833|1
ACCNUM: X95826|1495420|na|na|na
TYPE: g
PROT: CAA65095|1495421|1
ACCNUM: AF290204|10444284|na|na|na
TYPE: m
PROT: AAG17845|10444285|1
ACCNUM: BC074727|50960019|na|na|na
TYPE: m
PROT: AAH74727|50960020|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q93070|22261809|0
OFFICIAL_SYMBOL: DO
OFFICIAL_GENE_NAME: Dombrock blood group
ALIAS_SYMBOL: ART4
ALIAS_SYMBOL: DOK1
PREFERRED_PRODUCT: Dombrock blood group
CHR: 12
COMP: 10883|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A420[id]+AND+gene[obj_type]&QSTR=do&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ADP-ribosyltransferase 4
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512584
UNIGENE: Hs.512584
OMIM: 110600
MAP: 12q13.2-q13.3|RefSeq|C|
MAPLINK: default_human_gene|DO
PHENOTYPE: Blood group, Dombrock
PHENOTYPE_ID: 110600
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=420
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=420[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118787
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021071
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021071
PMID: 12477932,11001920,9119374
GO: molecular function|NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAS|GO:0003956|GOA|9119374
GO: biological process|arginine metabolism|NAS|GO:0006525|GOA|11001920
GO: cellular component|membrane|NAS|GO:0016020|GOA|9119374
GO: biological process|protein amino acid ADP-ribosylation|NAS|GO:0006471|GOA|9119374
GO: molecular function|transferase activity, transferring glycosyl groups|IEA|GO:0016757|GOA|na
>>421
LOCUSID: 421
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001670|4502246|na
NP: NP_001661|4502247
CDD: cd00020: Armadillo/beta-catenin-like repeats|14764|168|na|6.884160e+01
CDD: KOG1048: Neural adherens junction protein Plakophilin and related Armadillo repeat proteins [Signal transduction mechanisms, Extracellular structures]|18841|1731|na|6.709290e+02
PRODUCT: armadillo repeat protein
ASSEMBLY: U51269
CONTIG: NT_011519.10|29806588|na|3109569|3156459|-|22|reference
EVID: supported by alignment with mRNA
XM: NM_001670|4502246|na
XP: NP_001661|4502247|na
ACCNUM: U51269|1932726|na|na|na
TYPE: m
PROT: AAC51202|1932727|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O00192|12229553|0
OFFICIAL_SYMBOL: ARVCF
OFFICIAL_GENE_NAME: armadillo repeat gene deletes in velocardiofacial syndrome
PREFERRED_PRODUCT: armadillo repeat protein
SUMMARY: Summary: Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS) a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology.  ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex.  In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein.
CHR: 22
COMP: 31046|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A421[id]+AND+gene[obj_type]&QSTR=arvcf&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=326730
UNIGENE: Hs.326730
OMIM: 602269
MAP: 22q11.21|RefSeq|C|
MAPLINK: default_human_gene|ARVCF
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=421
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=421[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:4096957
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001670
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001670
PMID: 9192844,9126485,7677167
GO: biological process|cell adhesion|TAS|GO:0007155|GOA|9126485
GO: cellular component|cytoskeleton|IEA|GO:0005856|GOA|na
GO: biological process|development|TAS|GO:0007275|GOA|9126485
GO: cellular component|intracellular|TAS|GO:0005622|GOA|9126485
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
GO: molecular function|structural molecule activity|IEA|GO:0005198|GOA|na
>>422
LOCUSID: 422
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ARVD1
OFFICIAL_GENE_NAME: arrhythmogenic right ventricular dysplasia 1
ALIAS_SYMBOL: ARVD
CHR: 14
STS: D14S42|14|55083|D14S42|na|7951245
OMIM: 107970
MAP: 14q23-q24|HUGO|C|
MAPLINK: default_human_cyto|ARVD1
PHENOTYPE: Arrhythmogenic right ventricular dysplasia-1
PHENOTYPE_ID: 107970
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371339
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=107970
PMID: 7951245
>>423
LOCUSID: 423
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ARVD2
OFFICIAL_GENE_NAME: arrhythmogenic right ventricular dysplasia 2
CHR: 1
ALIAS_PROT: Arrhythmogenic right ventricular dysplasia-2 (arrhythmogenic right ventricular cardiomyopathy)
OMIM: 600996
MAP: 1q42-q43|RefSeq|C|
MAPLINK: default_human_cyto|ARVD2
PHENOTYPE: Arrhythmogenic right ventricular dysplasia-2
PHENOTYPE_ID: 600996
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:625376
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=600996
PMID: 8589694
>>424
LOCUSID: 424
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ARVD3
OFFICIAL_GENE_NAME: arrhythmogenic right ventricular dysplasia 3
ALIAS_SYMBOL: ARVD2
CHR: 14
STS: D14S252|14|58027|D14S252|seq_map|8824801
OMIM: 602086
MAP: 14q12-q22|RefSeq|C|
MAPLINK: default_human_cyto|ARVD3
PHENOTYPE: Arrhythmogenic right ventricular dysplasia-3
PHENOTYPE_ID: 602086
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6407106
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=602086
PMID: 8824801,8589694
>>425
LOCUSID: 425
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ARVD4
OFFICIAL_GENE_NAME: arrhythmogenic right ventricular dysplasia 4
CHR: 2
STS: D2S151|2|3225|D2S151|seq_map|9344647
STS: D2S103|2|5344|D2S103|seq_map|9344647
STS: D2S389|2|60233|D2S389|seq_map|9344647
OMIM: 602087
MAP: 2q32.1-q32.3|RefSeq|C|
MAPLINK: default_human_cyto|ARVD4
PHENOTYPE: Arrhythmogenic right ventricular dysplasia-4
PHENOTYPE_ID: 602087
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6474630
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=602087
PMID: 9344647
>>426
LOCUSID: 426
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AS
OFFICIAL_GENE_NAME: ankylosing spondylitis
ALIAS_SYMBOL: ANS
CHR: 6
STS: D6S281|6|39057|D6S281|seq_map|9550467
STS: D6S276|6|64271|D6S276|seq_map|9550467
OMIM: 106300
MAP: 6p21.3|HUGO|C|
MAPLINK: default_human_cyto|AS
PHENOTYPE: Ankylosing spondylitis
PHENOTYPE_ID: 106300
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:135697
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=106300
PMID: 9550467
>>427
LOCUSID: 427
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004315|30089929|na
NP: NP_004306|30089930
CDD: pfam02275: Linear amide C-N hydrolases, choloylglycine hydrolase family|24621|508|na|1.998340e+02
PRODUCT: N-acylsphingosine amidohydrolase (acid ceramidase) 1 isoform b
TRANSVAR: Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. These differences cause translation initiation at an upstream ATG and an isoform (b) with a distinct N-terminus compared to isoform a.
ASSEMBLY: AK025732,U70063
NM: NM_177924|30089927|na
NP: NP_808592|30089928
CDD: pfam02275: Linear amide C-N hydrolases, choloylglycine hydrolase family|24621|502|na|1.975230e+02
PRODUCT: N-acylsphingosine amidohydrolase (acid ceramidase) 1 preproprotein isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the shorter transcript, and encodes the shorter isoform a.
ASSEMBLY: BG714023,U70063
CONTIG: NT_030737.8|37552654|na|5724862|5753398|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_004315|30089929|na
XP: NP_004306|30089930|na
EVID: supported by alignment with mRNA
XM: NM_177924|30089927|na
XP: NP_808592|30089928|na
ACCNUM: AF220175|9651701|na|na|na
TYPE: g
PROT: AAF91230|9651702|1
ACCNUM: AK025211|10437677|na|na|na
TYPE: m
PROT: BAB15085|10437678|1
ACCNUM: AK025732|10438341|na|na|na
TYPE: m
ACCNUM: AK098299|21758284|na|na|na
TYPE: m
ACCNUM: AY305384|34559850|na|na|na
TYPE: m
PROT: AAQ75550|34559851|1
ACCNUM: BC016481|16741291|na|na|na
TYPE: m
PROT: AAH16481|16741292|1
ACCNUM: BC016828|16877107|na|na|na
TYPE: m
PROT: AAH16828|16877108|1
ACCNUM: BC035453|22028021|na|na|na
TYPE: m
ACCNUM: BG714023|13992954|na|na|na
TYPE: m
ACCNUM: U47674|3860239|na|na|na
TYPE: m
PROT: AAC73009|3860240|1
ACCNUM: U70063|1743866|na|na|na
TYPE: m
PROT: AAC50907|1743867|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13510|8247915|0
OFFICIAL_SYMBOL: ASAH1
OFFICIAL_GENE_NAME: N-acylsphingosine amidohydrolase (acid ceramidase) 1
ALIAS_SYMBOL: AC
ALIAS_SYMBOL: PHP
ALIAS_SYMBOL: ASAH
ALIAS_SYMBOL: PHP32
ALIAS_SYMBOL: FLJ21558
ALIAS_SYMBOL: FLJ22079
PREFERRED_PRODUCT: N-acylsphingosine amidohydrolase (acid ceramidase) 1 isoform b
PREFERRED_PRODUCT: N-acylsphingosine amidohydrolase (acid ceramidase) 1 preproprotein isoform a
SUMMARY: Summary: This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Two transcript variants encoding distinct isoforms have been identified for this gene.
CHR: 8
STS: D8S2114|8|27209|D8S2114|seq_map|epcr
STS: D8S2080|8|43566|D8S2080|seq_map|epcr
STS: RH94375|8|87547|na|seq_map|epcr
COMP: 10504|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A427[id]+AND+gene[obj_type]&QSTR=asah1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: acylsphingosine deacylase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324808
UNIGENE: Hs.324808
OMIM: 228000
ECNUM: 3.5.1.23
MAP: 8p22-p21.3|RefSeq|C|
MAPLINK: default_human_gene|ASAH1
PHENOTYPE: Farber lipogranulomatosis
PHENOTYPE_ID: 228000
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=427
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=427[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6837715
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/6837715.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004315
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004315
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=228000
DB_DESCR: KEGG pathway: Glycosphingolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+427
DB_DESCR: KEGG pathway: Sphingoglycolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00600+427
PMID: 14702039,12815059,12764132,12477932,11451951,10974027,10959093,10610716,9838138,8955159,7744740
GO: molecular function|ceramidase activity|IEA|GO:0017040|GOA|na
GO: biological process|ceramide metabolism|TAS|GO:0006672|GOA|8955159
GO: biological process|fatty acid metabolism|NR|GO:0006631|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|lysosome|IEA|GO:0005764|GOA|na
>>428
LOCUSID: 428
CURRENT_LOCUSID: 129880
ORGANISM: Homo sapiens
>>429
LOCUSID: 429
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004316|4757787|na
NP: NP_004307|4757788
CDD: cd00083: Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors|16522|132|na|5.483990e+01
PRODUCT: achaete-scute complex homolog-like 1
ASSEMBLY: L08424
CONTIG: NT_019546.15|29802923|na|26833782|26835769|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_004316|4757787|na
XP: NP_004307|4757788|na
ACCNUM: BC001638|34783105|na|na|na
TYPE: m
ACCNUM: BC002341|38197501|na|na|na
TYPE: m
PROT: AAH02341|12803079|1
ACCNUM: BC003134|13111926|na|na|na
TYPE: m
PROT: AAH03134|13111927|1
ACCNUM: BC004425|13325211|na|na|na
TYPE: m
PROT: AAH04425|13325212|1
ACCNUM: BC031299|22658429|na|na|na
TYPE: m
PROT: AAH31299|22658430|1
ACCNUM: L08424|306459|na|na|na
TYPE: m
PROT: AAA58376|306460|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P50553|20455478|0
OFFICIAL_SYMBOL: ASCL1
OFFICIAL_GENE_NAME: achaete-scute complex-like 1 (Drosophila)
ALIAS_SYMBOL: ASH1
ALIAS_SYMBOL: HASH1
ALIAS_SYMBOL: MASH1
PREFERRED_PRODUCT: achaete-scute complex homolog-like 1
SUMMARY: Summary: ACSL1 is a member of the basic helix-loop-helix (BHLH) family of transcription factors.  It activates transcription by binding to the E box (5'-CANNTG-3').  Dimerization with other BHLH proteins is required for efficient DNA binding.  ACSL1 plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. The protein is highly expressed in medullary thyroid cancer and small cell lung cancer and may be a useful marker for these cancers.  The presence of a CAG repeat in the gene suggests it may also play a role in tumor formation.
CHR: 12
STS: G10653|12|16485|na|seq_map|epcr
STS: WI-9226|12|45395|na|seq_map|epcr
STS: STS-L08424|12|49387|na|seq_map|epcr
STS: RH92884|12|87658|na|seq_map|epcr
STS: GDB:384904|-|157118|na|na|epcr
COMP: 31234|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A429[id]+AND+gene[obj_type]&QSTR=ascl1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1619
UNIGENE: Hs.1619
OMIM: 100790
MAP: 12q22-q23|RefSeq|C|
MAPLINK: default_human_gene|ASCL1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=429
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=429[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:203985
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004316
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004316
PMID: 14668716,12477932,11948117,11940670,9186001,9126746,8595908,8390674,1940670
GO: biological process|cell differentiation|IEA|GO:0030154|GOA|na
GO: biological process|neurogenesis|IEA|GO:0007399|GOA|na
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|regulation of transcription from Pol II promoter|NR|GO:0006357|GOA|na
GO: molecular function|transcription factor activity|NR|GO:0003700|GOA|8390674
>>430
LOCUSID: 430
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_005170|42716308|na
NP: NP_005161|4885665
CDD: cd00083: Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors|16522|129|na|5.368430e+01
PRODUCT: achaete-scute complex homolog-like 2
ASSEMBLY: BC028140,BC057801
CONTIG: NT_009237.16|37541814|na|1054907|1055838|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_005170|42716308|na
XP: NP_005161|4885665|na
ACCNUM: AF442769|17066697|na|na|na
TYPE: g
PROT: AAL35362|17066699|1
ACCNUM: S82817|1754728|na|na|na
TYPE: g
PROT: AAB39362|1754729|1
ACCNUM: U77629|2642464|na|na|na
TYPE: g
PROT: AAB86993|2642465|1
ACCNUM: BC028140|24081044|na|na|na
TYPE: m
ACCNUM: BC057801|34784717|na|na|na
TYPE: m
PROT: AAH57801|34784718|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q99929|12644476|0
OFFICIAL_SYMBOL: ASCL2
OFFICIAL_GENE_NAME: achaete-scute complex-like 2 (Drosophila)
ALIAS_SYMBOL: ASH2
ALIAS_SYMBOL: HASH2
ALIAS_SYMBOL: MASH2
PREFERRED_PRODUCT: achaete-scute complex homolog-like 2
SUMMARY: Summary: This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.
CHR: 11
STS: PMC180905P1|-|271666|na|na|epcr
STS: ECD15947|-|296962|na|na|epcr
COMP: 3789|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A430[id]+AND+gene[obj_type]&QSTR=ascl2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: mammalian achaete/scute homologue 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=152475
UNIGENE: Hs.152475
OMIM: 601886
MAP: 11p15.5|HUGO|C|
MAPLINK: default_human_gene|ASCL2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=430
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=430[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:1220264
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005170
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005170
PMID: 12917334,12477932,12099555,11440538,9610003,9175731,8751384
GO: biological process|cell differentiation|IEA|GO:0030154|GOA|na
GO: biological process|central nervous system development|NAS|GO:0007417|GOA|na
GO: cellular component|nucleus|NAS|GO:0005634|GOA|8751384
GO: biological process|peripheral nervous system development|NAS|GO:0007422|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|NAS|GO:0006355|GOA|8751384
GO: molecular function|transcription factor activity|NAS|GO:0003700|GOA|8751384
>>431
LOCUSID: 431
LOCUS_CONFIRMED: yes
LOCUS_TYPE: quantitative trait locus (QTL) (phenotype)
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ASD1
OFFICIAL_GENE_NAME: atrial septal defect 1
ALIAS_SYMBOL: ASD2
CHR: 6
OMIM: 108800
MAP: 6p21.3|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108800">OMIM</a>|C|
MAPLINK: default_human_cyto|ASD1
PHENOTYPE: Atrial septal defect, secundum type
PHENOTYPE_ID: 108800
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6276019
>>432
LOCUSID: 432
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001671|18426870|na
NP: NP_001662|4502251
CDD: pfam00059: Lectin C-type domain|22886|267|na|1.070020e+02
CDD: pfam03954: Hepatic lectin, N-terminal domain|8881|337|na|1.339640e+02
PRODUCT: asialoglycoprotein receptor 1
ASSEMBLY: AB070933
CONTIG: NT_010718.14|37543500|na|5917755|5923667|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_001671|18426870|na
XP: NP_001662|4502251|na
ACCNUM: AB070933|18149182|na|na|na
TYPE: m
PROT: BAB83508|18149183|1
ACCNUM: BC032130|33879712|na|na|na
TYPE: m
PROT: AAH32130|21619417|1
ACCNUM: CR542052|49457056|na|na|na
TYPE: m
PROT: CAG46849|49457057|1
ACCNUM: M10058|179078|na|na|na
TYPE: m
PROT: AAA51785|179079|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P07306|126132|0
OFFICIAL_SYMBOL: ASGR1
OFFICIAL_GENE_NAME: asialoglycoprotein receptor 1
ALIAS_SYMBOL: ASGPR
ALIAS_SYMBOL: Hs.12056
PREFERRED_PRODUCT: asialoglycoprotein receptor 1
SUMMARY: Summary: This cell surface receptor binds to galactose-terminated glycoproteins. It transports these glycoproteins via a series of membrane vesicles and tubules to an acidic-sorting organelle where the receptor and ligand dissociates. Then the receptor is recycled back to the cell surface.
CHR: 17
STS: D17S2010|17|68829|D17S2010|seq_map|epcr
STS: RH11640|17|83984|na|seq_map|epcr
COMP: 1263|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A432[id]+AND+gene[obj_type]&QSTR=asgr1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: hepatic lectin H1
OMIM: 108360
MAP: 17p13.2|RefSeq|C|
MAPLINK: default_human_gene|ASGR1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=432
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=432[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118754
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001671
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001671
PMID: 12477932,12370180,12359251,12167617,12119473,11943787,10734069,3753585,2982798,1774077
GO: molecular function|asialoglycoprotein receptor activity|TAS|GO:0004873|GOA|8439566
GO: biological process|heterophilic cell adhesion|IEA|GO:0007157|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|10734069
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: biological process|receptor mediated endocytosis|TAS|GO:0006898|GOA|8439566
GO: molecular function|sugar binding|IEA|GO:0005529|GOA|na
>>433
LOCUSID: 433
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001181|18426871|na
NP: NP_001172|4502253
CDD: pfam00059: Lectin C-type domain|22886|302|na|1.204840e+02
CDD: pfam03954: Hepatic lectin, N-terminal domain|8881|501|na|1.971370e+02
PRODUCT: asialoglycoprotein receptor 2 isoform a
TRANSVAR: Transcript Variant: This variant (1) lacks 88 nt in the 5' UTR, as compared to variant H2'. Variants 1 and H2' encode the same isoform, a.
ASSEMBLY: BC017251,M11025
NM: NM_080912|18426872|na
NP: NP_550434|18426873
CDD: pfam00059: Lectin C-type domain|22886|302|na|1.204840e+02
CDD: pfam03954: Hepatic lectin, N-terminal domain|8881|501|na|1.971370e+02
PRODUCT: asialoglycoprotein receptor 2 isoform a
TRANSVAR: Transcript Variant: This variant (H2') is the longest transcript. It has an additional 88 nt in the 5' UTR, as compared to variant 1. Variants 1 and H2' encode the same isoform, a.
ASSEMBLY: BC017251,M11025
NM: NM_080913|18426874|na
NP: NP_550435|18426875
CDD: pfam00059: Lectin C-type domain|22886|297|na|1.185580e+02
CDD: pfam03954: Hepatic lectin, N-terminal domain|8881|486|na|1.913590e+02
PRODUCT: asialoglycoprotein receptor 2 isoform b
TRANSVAR: Transcript Variant: This variant (2) lacks 57 nt of exon 2 and 15 nt of exon 3 in the coding region, as compared to variant 1, but maintains the same reading frame. This variant encodes an isoform, b, which is 24 aa shorter than isoform a.
ASSEMBLY: BC017251,M11025
NM: NM_080914|18426876|na
NP: NP_550436|18426877
CDD: pfam00059: Lectin C-type domain|22886|298|na|1.189440e+02
CDD: pfam03954: Hepatic lectin, N-terminal domain|8881|471|na|1.855810e+02
PRODUCT: asialoglycoprotein receptor 2 isoform c
TRANSVAR: Transcript Variant: This variant (3) lacks 57 nt of exon 2 in the coding region, as compared to variant 1, but maintains the same reading frame. Variant 3 encodes isoform c, which is 19 aa shorter than isoform a.
ASSEMBLY: M11025,U97197
CONTIG: NT_010718.14|37543500|na|5845646|5859084|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_001181|18426871|na
XP: NP_001172|4502253|na
EVID: supported by alignment with mRNA
XM: NM_080912|18426872|na
XP: NP_550434|18426873|na
EVID: supported by alignment with mRNA
XM: NM_080913|18426874|na
XP: NP_550435|18426875|na
EVID: supported by alignment with mRNA
XM: NM_080914|18426876|na
XP: NP_550436|18426877|na
ACCNUM: AF529374|33328315|na|na|na
TYPE: m
PROT: AAQ09608|33328316|1
ACCNUM: BC017251|33878097|na|na|na
TYPE: m
PROT: AAH17251|16878088|1
ACCNUM: M11025|179080|na|na|na
TYPE: m
PROT: AAB59519|179081|1
ACCNUM: U97197|2121249|na|na|na
TYPE: m
PROT: AAB58308|2121250|1
ACCNUM: X55283|34354|na|na|na
TYPE: m
PROT: CAA38997|34355|1
ACCNUM: X55284|34353|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P07307|126134|0
OFFICIAL_SYMBOL: ASGR2
OFFICIAL_GENE_NAME: asialoglycoprotein receptor 2
ALIAS_SYMBOL: L-H2
ALIAS_SYMBOL: ASGP-R
ALIAS_SYMBOL: Hs.1259
PREFERRED_PRODUCT: asialoglycoprotein receptor 2 isoform a
PREFERRED_PRODUCT: asialoglycoprotein receptor 2 isoform b
PREFERRED_PRODUCT: asialoglycoprotein receptor 2 isoform c
SUMMARY: Summary: This cell surface receptor binds to galactose-terminated glycoproteins. It transports these glycoproteins via a series of membrane vesicles and tubules to an acidic-sorting organelle where the receptor and ligand dissociates. Then the receptor is recycled back to the cell surface. There are four alternatively spliced transcript variants of this gene. This gene has multiple polyadenylation sites.
CHR: 17
STS: STS-T67921|17|28761|na|seq_map|epcr
STS: RH80271|17|87374|na|seq_map|epcr
COMP: 912|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A433[id]+AND+gene[obj_type]&QSTR=asgr2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: hepatic lectin H2
ALIAS_PROT: asialoglycoprotein receptor H2
OMIM: 108361
MAP: 17p|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108361">OMIM</a>|C|
MAPLINK: default_human_gene|ASGR2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=433
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=433[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118755
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_080912
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_080912
PMID: 12477932,12119473,12089159,11943787,3863106,1371982
GO: molecular function|asialoglycoprotein receptor activity|TAS|GO:0004873|GOA|3863106
GO: biological process|cell surface receptor linked signal transduction|TAS|GO:0007166|GOA|3863106
GO: biological process|endocytosis|IEA|GO:0006897|GOA|na
GO: biological process|heterophilic cell adhesion|IEA|GO:0007157|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|receptor activity|IEA|GO:0004872|GOA|na
GO: molecular function|sugar binding|IEA|GO:0005529|GOA|na
>>434
LOCUSID: 434
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001672|21327679|na
NP: NP_001663|21327680
CDD: pfam05039: Agouti protein|16334|109|na|4.621400e+01
PRODUCT: agouti signaling protein precursor
ASSEMBLY: L37019
CONTIG: NT_028392.4|17458490|na|3014939|3023916|+|20|reference
EVID: supported by alignment with mRNA
XM: NM_001672|21327679|na
XP: NP_001663|21327680|na
ACCNUM: AL035458|6624641|na|na|na
TYPE: g
PROT: CAB96679|8953446|1
ACCNUM: L37019|608647|na|na|na
TYPE: g
PROT: AAA89208|608648|1
ACCNUM: U12775|540071|na|na|na
TYPE: g
PROT: AAB61247|540073|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P42127|1168389|0
OFFICIAL_SYMBOL: ASIP
OFFICIAL_GENE_NAME: agouti signaling protein, nonagouti homolog (mouse)
ALIAS_SYMBOL: ASP
ALIAS_SYMBOL: AGSW
ALIAS_SYMBOL: AGTI
ALIAS_SYMBOL: AGTIL
PREFERRED_PRODUCT: agouti signaling protein precursor
SUMMARY: Summary: In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes.
CHR: 20
STS: SHGC-36988|20|54694|na|seq_map|epcr
COMP: 1264|20|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=20&MAPS=genes-r-org/rat-chr/human%3A20,genes-r-org/mouse-chr/human%3A20,genes-r-org/human-chr20&query=e%3A434[id]+AND+gene[obj_type]&QSTR=asip&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: agouti switch protein
ALIAS_PROT: agouti (mouse)-signaling protein
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=361642
UNIGENE: Hs.361642
OMIM: 600201
MAP: 20q11.2-q12|HUGO|C|
MAPLINK: default_human_gene|ASIP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=434
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=434[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:392697
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001672
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001672
PMID: 14633851,12519127,12055320,11833005,7937887,7757071
GO: biological process|cell-cell signaling|TAS|GO:0007267|GOA|7757071
GO: biological process|energy pathways|TAS|GO:0006091|GOA|7937887
GO: cellular component|extracellular space|TAS|GO:0005615|GOA|7937887
GO: biological process|hormone-mediated signaling|IEA|GO:0009755|GOA|na
GO: molecular function|receptor binding|TAS|GO:0005102|GOA|7757071
GO: biological process|signal transduction|TAS|GO:0007165|GOA|7757071
>>435
LOCUSID: 435
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_000048|31541963|na
NP: NP_000039|31541964
CDD: KOG1316: Argininosuccinate lyase [Amino acid transport and metabolism]|19105|1999|na|7.741200e+02
PRODUCT: argininosuccinate lyase
ASSEMBLY: BC008195
CONTIG: NT_007758.10|29795292|na|3573583|3590710|+|7|reference
EVID: supported by alignment with mRNA
XM: NM_000048|31541963|na
XP: NP_000039|31541964|na
CONTIG: NT_079593.1|37539049|na|3567503|3584622|+|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_000048|31541963|na
XP: NP_000039|31541964|na
ACCNUM: AF376770|18033919|na|na|na
TYPE: g
PROT: AAL57276|18033920|1
ACCNUM: BC008195|14198269|na|na|na
TYPE: m
PROT: AAH08195|14198270|1
ACCNUM: BC033146|21620110|na|na|na
TYPE: m
PROT: AAH33146|21620111|1
ACCNUM: J03058|179088|na|na|na
TYPE: m
PROT: AAA51787|179089|1
ACCNUM: M14218|179082|na|na|na
TYPE: m
PROT: AAA51786|179083|1
ACCNUM: M57638|179090|na|na|na
TYPE: m
PROT: AAA51788|179091|1
ACCNUM: Y00753|28877|na|na|na
TYPE: m
PROT: CAA68722|28878|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P04424|21264386|0
OFFICIAL_SYMBOL: ASL
OFFICIAL_GENE_NAME: argininosuccinate lyase
PREFERRED_PRODUCT: argininosuccinate lyase
SUMMARY: Summary: Argininosuccinate lyase (EC 4.3.2.1) is a urea cycle enzyme that catalyzes the cleavage of argininosuccinate to fumarate and arginine, an essential step in the process of detoxification of ammonia via the urea cycle.[supplied by OMIM]
CHR: 7
STS: RH46913|22|45785|na|na|epcr
STS: WI-22687|-|52070|na|na|epcr
COMP: 32|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A435[id]+AND+gene[obj_type]&QSTR=asl&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442047
UNIGENE: Hs.442047
OMIM: 608310
ECNUM: 4.3.2.1
MAP: 7cen-q11.2|RefSeq|C|
MAPLINK: default_human_gene|ASL
PHENOTYPE: Argininosuccinic aciduria
PHENOTYPE_ID: 207900
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=435
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=435[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119703
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000048
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000048
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=207900
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=608310
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+435
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+435
DB_DESCR: KEGG pathway: Urea cycle and metabolism of amino groups
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00220+435
PMID: 12512996,12477932,12408190,12384776,11747433,11747432,3463959,3391281,2644168,282632
GO: biological process|arginine biosynthesis|IEA|GO:0006526|GOA|na
GO: biological process|arginine catabolism|TAS|GO:0006527|GOA|282632
GO: molecular function|argininosuccinate lyase activity|TAS|GO:0004056|GOA|282632
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|282632
GO: molecular function|lyase activity|IEA|GO:0016829|GOA|na
GO: biological process|urea cycle|NR|GO:0000050|GOA|na
>>436
LOCUSID: 436
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_002637|28849908|na|1|4386
CONTIG: NT_011520.9|29807292|na|3381922|3386107|-|22|na
EVID: alignment with NG_002637
XG: NG_002637|28849908|na
ACCNUM: AP000346|5103009|na|134023|129838
TYPE: g
OFFICIAL_SYMBOL: ASLL
OFFICIAL_GENE_NAME: argininosuccinate lyase-like
CHR: 22
STS: WI-22687|-|52070|na|na|epcr
MAP: 22q11.23|RefSeq|C|
MAPLINK: default_human_gene|ASLL
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=436
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119704
>>437
LOCUSID: 437
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ASMD
OFFICIAL_GENE_NAME: anterior segment mesenchymal dysgenesis
ALIAS_SYMBOL: ASOD
CHR: 4
OMIM: 107250
MAP: 4q28-q31|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107250">OMIM</a>|C|
MAPLINK: default_human_cyto|ASMD
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119705
>>438
LOCUSID: 438
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_004043|4757791|na
NP: NP_004034|4757792
CDD: KOG3178: Hydroxyindole-O-methyltransferase and related SAM-dependent methyltransferases [General function prediction only]|20963|733|na|2.864220e+02
PRODUCT: acetylserotonin O-methyltransferase
ASSEMBLY: AH003193
CONTIG: NT_033330.6|37546506|na|270067|317693|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_004043|4757791|na
XP: NP_004034|4757792|na
CONTIG: NT_079583.1|37546690|na|270067|317693|+|Y|reference
EVID: supported by alignment with mRNA
XM: NM_004043|4757791|na
XP: NP_004034|4757792|na
ACCNUM: U11098|607851|na|na|na
TYPE: g
PROT: AAA75289|607855|1
PROT: AAA75290|607853|1
PROT: AAA75291|607854|1
ACCNUM: BC001620|12804428|na|na|na
TYPE: m
PROT: AAH01620|12804429|1
ACCNUM: M83779|292141|na|na|na
TYPE: m
PROT: AAA17020|292142|1
ACCNUM: U11090|607839|na|na|na
TYPE: m
PROT: AAA58582|607840|1
ACCNUM: U11091|607841|na|na|na
TYPE: m
PROT: AAA58583|607842|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P46597|1170276|0
OFFICIAL_SYMBOL: ASMT
OFFICIAL_GENE_NAME: acetylserotonin O-methyltransferase
ALIAS_SYMBOL: ASMTY
ALIAS_SYMBOL: HIOMT
ALIAS_SYMBOL: HIOMTY
PREFERRED_PRODUCT: acetylserotonin O-methyltransferase
CHR: X
CHR: Y
STS: RH71197|X|19674|na|seq_map|epcr
COMP: 20859|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/human-chrX&query=e%3A438[id]+AND+gene[obj_type]&QSTR=asmt&cmd=focus&fill=10|Rat
COMP: 20859|Y|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=Y&MAPS=genes-r-org/rat-chr/human%3AY,genes-r-org/human-chrY&query=e%3A438[id]+AND+gene[obj_type]&QSTR=asmt&cmd=focus&fill=10|Rat
ALIAS_PROT: acetylserotonin N-methyltransferase
ALIAS_PROT: Acetylserotonin methyltransferase (Y chromosome)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169609
UNIGENE: Hs.169609
OMIM: 300015
OMIM: 402500
ECNUM: 2.1.1.4
MAP: Xp22.3 or Yp11.3|HUGO|C|
MAPLINK: default_human_query|ASMT
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=438
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=438[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136259
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004043
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004043
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+438
DB_DESCR: Integrated X Chromosome Database (IXDB)
DB_LINK: http://ixdb.mpimg-berlin-dahlem.mpg.de/bin/ixdbcmd.cgi?cmd=showObj&id=520401
PMID: 12477932,8397829,7989373
GO: molecular function|acetylserotonin O-methyltransferase activity|IEA|GO:0017096|GOA|na
GO: biological process|melatonin biosynthesis|IEA|GO:0030187|GOA|na
GO: molecular function|neuropeptide hormone activity|IEA|GO:0005184|GOA|na
GO: biological process|protein biosynthesis|TAS|GO:0006412|GOA|8397829
GO: biological process|rhythmic behavior|IEA|GO:0007622|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>439
LOCUSID: 439
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_004317|50428937|na
NP: NP_004308|50428938
CDD: cd00550: Oxyanion-translocating ATPase (ArsA)|16569|887|na|3.457360e+02
PRODUCT: arsA arsenite transporter, ATP-binding, homolog 1
ASSEMBLY: BC002651,BG426136
CONTIG: NT_011295.10|29801560|na|4111171|4121938|+|19|reference
EVID: supported by alignment with mRNA
XM: NM_004317|50428937|na
XP: NP_004308|50428938|na
ACCNUM: AY304483|31415694|na|na|na
TYPE: g
PROT: AAP45050|31415695|1
ACCNUM: AF047469|2905656|na|na|na
TYPE: m
PROT: AAC03551|2905657|1
ACCNUM: BC002651|38114734|na|na|na
TYPE: m
PROT: AAH02651|12803633|1
ACCNUM: BG426136|13332642|na|na|na
TYPE: m
ACCNUM: U60276|1616740|na|na|na
TYPE: m
PROT: AAC50731|1616741|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O43681|6647417|0
OFFICIAL_SYMBOL: ASNA1
OFFICIAL_GENE_NAME: arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)
ALIAS_SYMBOL: ARSA1
ALIAS_SYMBOL: ARSA-I
ALIAS_SYMBOL: MGC3821
PREFERRED_PRODUCT: arsA arsenite transporter, ATP-binding, homolog 1
SUMMARY: Summary: ASNA1 is the human homolog of the bacterial arsA gene. In E. coli, ArsA ATPase is the catalytic component of a multisubunit oxyanion pump that is responsible for resistance to arsenicals and antimonials.[supplied by OMIM]
CHR: 19
STS: STS-H08525|19|12040|na|seq_map|epcr
STS: RH70684|19|32414|na|seq_map|epcr
COMP: 36156|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A439[id]+AND+gene[obj_type]&QSTR=asna1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: arsA (bacterial) arsenite transporter, ATP-binding, homolog 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=165439
UNIGENE: Hs.165439
OMIM: 601913
MAP: 19q13.3|RefSeq|C|
MAPLINK: default_human_gene|ASNA1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=439
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=439[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6279008
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004317
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004317
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+439
PMID: 12477932,10696239,9736449,9712828,8884272
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|anion transport|IEA|GO:0006820|GOA|na
GO: molecular function|arsenite transporter activity|TAS|GO:0015105|GOA|8884272
GO: molecular function|arsenite-transporting ATPase activity|IEA|GO:0015446|GOA|na
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|9736449
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: cellular component|nucleolus|TAS|GO:0005730|GOA|9736449
GO: biological process|response to arsenate|IEA|GO:0046685|GOA|na
GO: cellular component|soluble fraction|TAS|GO:0005625|GOA|9736449
GO: biological process|transport|TAS|GO:0006810|GOA|9736449
GO: molecular function|transporter activity|TAS|GO:0005215|GOA|9736449
>>440
LOCUSID: 440
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001673|19718771|na
NP: NP_001664|19718772
CDD: pfam00733: Asparagine synthase|6214|584|na|2.289900e+02
CDD: cd00712: Glutamine amidotransferases class-II (GATase) asparagine synthase_B type|24185|464|na|1.827580e+02
CDD: KOG0571: Asparagine synthase (glutamine-hydrolyzing) [Amino acid transport and metabolism]|18366|1649|na|6.392690e+02
PRODUCT: asparagine synthetase
TRANSVAR: Transcript Variant: This variant (2) utilizes an alternative exon in the 5' UTR compared to variant 1.
ASSEMBLY: M27396
NM: NM_133436|19718773|na
NP: NP_597680|19718774
CDD: pfam00733: Asparagine synthase|6214|584|na|2.289900e+02
CDD: cd00712: Glutamine amidotransferases class-II (GATase) asparagine synthase_B type|24185|464|na|1.827580e+02
CDD: KOG0571: Asparagine synthase (glutamine-hydrolyzing) [Amino acid transport and metabolism]|18366|1649|na|6.392690e+02
PRODUCT: asparagine synthetase
TRANSVAR: Transcript Variant: This variant (1) is the longer variant.
ASSEMBLY: AK000379,BC008723
NM: NM_183356|34452702|na
NP: NP_899199|34452703
CDD: pfam00733: Asparagine synthase|6214|584|na|2.289900e+02
CDD: cd00712: Glutamine amidotransferases class-II (GATase) asparagine synthase_B type|24185|464|na|1.827580e+02
CDD: KOG0571: Asparagine synthase (glutamine-hydrolyzing) [Amino acid transport and metabolism]|18366|1649|na|6.392690e+02
PRODUCT: asparagine synthetase
TRANSVAR: Transcript Variant: This variant (3) utilizes an additional exon in the 5' UTR compared to variant 1.
ASSEMBLY: BC008723,BG718826
CONTIG: NT_007933.13|37538784|na|22715357|22735395|-|7|reference
EVID: supported by alignment with mRNA
XM: NM_001673|19718771|na
XP: NP_001664|19718772|na
EVID: supported by alignment with mRNA
XM: NM_133436|19718773|na
XP: NP_597680|19718774|na
EVID: supported by alignment with mRNA
XM: NM_183356|34452702|na
XP: NP_899199|34452703|na
CONTIG: NT_079595.1|37539165|na|22704523|22724561|-|7|HSC_TCAG
EVID: supported by alignment with mRNA
XM: NM_001673|19718771|na
XP: NP_001664|19718772|na
EVID: supported by alignment with mRNA
XM: NM_133436|19718773|na
XP: NP_597680|19718774|na
EVID: supported by alignment with mRNA
XM: NM_183356|34452702|na
XP: NP_899199|34452703|na
ACCNUM: L35946|533197|na|na|na
TYPE: g
PROT: AAA52756|533200|1
ACCNUM: M27054|341608|na|na|na
TYPE: g
PROT: AAA63266|703119|1
ACCNUM: AK000379|7020429|na|na|na
TYPE: m
ACCNUM: BC008723|33873938|na|na|na
TYPE: m
PROT: AAH08723|14250542|1
ACCNUM: BC014621|33870170|na|na|na
TYPE: m
PROT: AAH14621|15779114|1
ACCNUM: BC030024|22535235|na|na|na
TYPE: m
ACCNUM: BG718826|13998013|na|na|na
TYPE: m
ACCNUM: BT007113|30583064|na|na|na
TYPE: m
PROT: AAP35777|30583065|1
ACCNUM: M15798|339986|na|na|na
TYPE: m
PROT: AAA36781|339987|1
ACCNUM: M27396|179099|na|na|na
TYPE: m
PROT: AAA51789|179100|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P08243|13432102|0
OFFICIAL_SYMBOL: ASNS
OFFICIAL_GENE_NAME: asparagine synthetase
ALIAS_SYMBOL: TS11
PREFERRED_PRODUCT: asparagine synthetase
SUMMARY: Summary: The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. There are three alternatively spliced transcript variants encoding the same protein described for this gene.
CHR: 7
STS: RH46222|-|2103|na|na|epcr
STS: WI-20023|7|31460|na|seq_map|epcr
STS: ASNS|7|61194|ASNS|seq_map|epcr
STS: RH79681|-|90964|na|na|epcr
COMP: 5990|7|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=7&MAPS=genes-r-org/rat-chr/human%3A7,genes-r-org/mouse-chr/human%3A7,genes-r-org/human-chr7&query=e%3A440[id]+AND+gene[obj_type]&QSTR=asns&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: TS11 cell cycle control protein
ALIAS_PROT: glutamine-dependent asparagine synthetase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446546
UNIGENE: Hs.446546
OMIM: 108370
ECNUM: 6.3.5.4
MAP: 7q21.3|RefSeq|C|
MAPLINK: default_human_gene|ASNS
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=440
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=440[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119706
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_133436
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_133436
DB_DESCR: KEGG pathway: Nitrogen metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00910+440
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+440
PMID: 12477932,12351626,12097650,11960987,11867623,7904551,6137879,3470743,2886907,2714790,2569668,2565875,2564390
GO: biological process|asparagine biosynthesis|NAS|GO:0006529|GOA|na
GO: molecular function|asparagine synthase (glutamine-hydrolyzing) activity|IDA|GO:0004066|GOA|2564390,2569668,2886907
GO: biological process|glutamine metabolism|IEA|GO:0006541|GOA|na
GO: molecular function|ligase activity|IEA|GO:0016874|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: cellular component|soluble fraction|IDA|GO:0005625|GOA|2564390
>>441
LOCUSID: 441
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ASNSL1
OFFICIAL_GENE_NAME: asparagine synthetase-like 1
CHR: 8
MAP: 8pter-q24|HUGO|C|
MAPLINK: default_human_cyto|ASNSL1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119707
>>442
LOCUSID: 442
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ASNSL2
OFFICIAL_GENE_NAME: asparagine synthetase-like 2
CHR: 21
MAP: 21pter-q21|HUGO|C|
MAPLINK: default_human_cyto|ASNSL2
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119708
PMID: 10830953
>>443
LOCUSID: 443
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000049|4557334|na
NP: NP_000040|4557335
CDD: COG2988: Succinylglutamate desuccinylase [Amino acid transport and metabolism]|12332|279|na|1.115580e+02
PRODUCT: aspartoacylase
ASSEMBLY: S67156
CONTIG: NT_010718.14|37543500|na|2226327|2249731|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_000049|4557334|na
XP: NP_000040|4557335|na
ACCNUM: S74727|786601|na|na|na
TYPE: g
PROT: AAD14981|4262833|1
ACCNUM: BC010941|15012078|na|na|na
TYPE: m
PROT: AAH10941|31418016|1
ACCNUM: BC029128|20810517|na|na|na
TYPE: m
PROT: AAH29128|20810518|1
ACCNUM: S67156|455833|na|na|na
TYPE: m
PROT: AAB29190|455834|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P45381|1168340|0
OFFICIAL_SYMBOL: ASPA
OFFICIAL_GENE_NAME: aspartoacylase (aminoacylase 2, Canavan disease)
ALIAS_SYMBOL: ASP
ALIAS_SYMBOL: ACY2
PREFERRED_PRODUCT: aspartoacylase
SUMMARY: Summary:  The ASPA gene product, aspartoacylase, catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate.  NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter.  The ASPA gene product is an NAA scavenger in other tissues.  Defects in ASPA cause Canavan disease.
CHR: 17
STS: D17S2054|17|5686|D17S2054|seq_map|epcr
STS: RH17906|17|31888|na|seq_map|epcr
STS: STS-H83906|17|75851|na|seq_map|epcr
STS: GDB:375371|17|157023|na|seq_map|epcr
COMP: 33|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A443[id]+AND+gene[obj_type]&QSTR=aspa&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: aminoacylase 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=32042
UNIGENE: Hs.32042
OMIM: 608034
ECNUM: 3.5.1.15
MAP: 17pter-p13|RefSeq|C|
MAPLINK: default_human_gene|ASPA
PHENOTYPE: Canavan disease
PHENOTYPE_ID: 271900
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=443
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=443[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:231014
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/231014.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000049
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000049
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=271900
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=608034
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+443
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+443
PMID: 12638939,12477932,8252036,8088831
GO: molecular function|aminoacylase activity|TAS|GO:0004046|GOA|8252036
GO: biological process|aspartate catabolism|TAS|GO:0006533|GOA|8252036
GO: molecular function|aspartoacylase activity|IEA|GO:0019807|GOA|na
GO: molecular function|hydrolase activity, acting on ester bonds|IEA|GO:0016788|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
>>444
LOCUSID: 444
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004318|14589865|na
NP: NP_004309|14589866
CDD: cd00189: Tetratricopeptide repeat domain|5390|113|na|4.776060e+01
CDD: pfam05279: Aspartyl beta-hydroxylase N-terminal region|17656|710|na|2.780090e+02
CDD: COG1729: Uncharacterized protein conserved in bacteria [Function unknown]|11440|92|na|3.960640e+01
CDD: KOG3696: Aspartyl beta-hydroxylase [Posttranslational modification, protein turnover, chaperones]|21475|631|na|2.472780e+02
PRODUCT: aspartate beta-hydroxylase isoform a
TRANSVAR: Transcript Variant:  This variant (1) encodes the longest isoform. The distinct C-terminus of this isoform is endowed with enzymatic activity which hydroxylates the beta carbon of aspartic acid or asparagine residues in certain epidermal growth factor-like domains of proteins such as protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
ASSEMBLY: U03109
NM: NM_020164|14589858|na
NP: NP_064549|9910364
CDD: KOG3696: Aspartyl beta-hydroxylase [Posttranslational modification, protein turnover, chaperones]|21475|330|na|1.313330e+02
PRODUCT: aspartate beta-hydroxylase isoform e
TRANSVAR: Transcript Variant: This variant (5) encodes isoform e which shares the N-terminus with isoform a. This isoform lacks the catalytic domain and thus enzymatic function of isoform a. This isoform has also been referred to as junctin isoform 1 and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
ASSEMBLY: AF184241
NM: NM_032466|14589859|na
NP: NP_115855|14589860
CDD: pfam05279: Aspartyl beta-hydroxylase N-terminal region|17656|598|na|2.348660e+02
CDD: KOG3696: Aspartyl beta-hydroxylase [Posttranslational modification, protein turnover, chaperones]|21475|636|na|2.492040e+02
PRODUCT: aspartate beta-hydroxylase isoform c
TRANSVAR: Transcript Variant:  This variant (3) encodes isoform c which is identical to the N-terminal and central region of isoform a. Because this transcript variant lacks the alternative 3' terminal exon which encodes a catalytic domain for isoform a, isoform c is considered a noncatalytic isoform. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
ASSEMBLY: AF289489
NM: NM_032467|14589861|na
NP: NP_115856|14589862
CDD: KOG3696: Aspartyl beta-hydroxylase [Posttranslational modification, protein turnover, chaperones]|21475|277|na|1.109170e+02
PRODUCT: aspartate beta-hydroxylase isoform d
TRANSVAR: Transcript Variant: This variant (4) encodes isoform d which shares the N-terminus with isoform a. This isoform lacks the catalytic domain and thus enzymatic function of isoform a. This isoform has also been referred to as junctin and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
ASSEMBLY: AF184241,AF224468
NM: NM_032468|47419891|na
NP: NP_115857|14589864
CDD: pfam05279: Aspartyl beta-hydroxylase N-terminal region|17656|661|na|2.591340e+02
PRODUCT: aspartate beta-hydroxylase isoform b
TRANSVAR: Transcript Variant: This variant (2) encodes isoform b which shares residues with the central region of isoform a. This isoform lacks the catalytic domain and thus enzymatic function of isoform a. Isoform b has also been referred to as junctate and is located in both the endoplasmic and sarcoplasmic reticulum. Calcium binding properties of this isoform suggest an active role in the calcium storage and release process in the endoplasmic reticulum. This variant is expressed in heart, brain, pancreas, placenta, lung, liver, kidney, and skeletal muscle tissues.
ASSEMBLY: AF306765,BI793083,BM785890,CA420254,CB115846,CB122028,N83868
CONTIG: NT_008183.17|37556103|na|14258369|14469827|-|8|reference
EVID: supported by alignment with mRNA
XM: NM_004318|14589865|na
XP: NP_004309|14589866|na
EVID: supported by alignment with mRNA
XM: NM_020164|14589858|na
XP: NP_064549|9910364|na
EVID: supported by alignment with mRNA
XM: NM_032466|14589859|na
XP: NP_115855|14589860|na
EVID: supported by alignment with mRNA
XM: NM_032467|14589861|na
XP: NP_115856|14589862|na
EVID: supported by alignment with mRNA
XM: NM_032468|47419891|na
XP: NP_115857|14589864|na
ACCNUM: AF184241|10441298|na|na|na
TYPE: m
PROT: AAG16983|10441299|1
ACCNUM: AF224468|8979459|na|na|na
TYPE: m
PROT: AAF82246|8979460|1
ACCNUM: AF224469|8979461|na|na|na
TYPE: m
PROT: AAF82247|8979462|1
ACCNUM: AF289489|11878115|na|na|na
TYPE: m
PROT: AAG40811|11878116|1
ACCNUM: AF306765|11991236|na|na|na
TYPE: m
PROT: AAG42257|11991237|1
ACCNUM: BC015518|34189304|na|na|na
TYPE: m
PROT: AAH15518|34189305|1
ACCNUM: BC025236|19263910|na|na|na
TYPE: m
PROT: AAH25236|19263911|1
ACCNUM: BI793083|15820808|na|na|na
TYPE: m
ACCNUM: BM785890|19134122|na|na|na
TYPE: m
ACCNUM: CA420254|24782909|na|na|na
TYPE: m
ACCNUM: CB115846|27941653|na|na|na
TYPE: m
ACCNUM: CB122028|27947830|na|na|na
TYPE: m
ACCNUM: N83868|1259493|na|na|na
TYPE: m
ACCNUM: S83325|1911651|na|na|na
TYPE: m
PROT: AAB50779|1911652|1
ACCNUM: U03109|458031|na|na|na
TYPE: m
PROT: AAA82108|458032|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q12797|2498165|0
OFFICIAL_SYMBOL: ASPH
OFFICIAL_GENE_NAME: aspartate beta-hydroxylase
ALIAS_SYMBOL: BAH
ALIAS_SYMBOL: HAAH
ALIAS_SYMBOL: JCTN
ALIAS_SYMBOL: CASQ2BP1
PREFERRED_PRODUCT: aspartate beta-hydroxylase isoform a
PREFERRED_PRODUCT: aspartate beta-hydroxylase isoform b
PREFERRED_PRODUCT: aspartate beta-hydroxylase isoform c
PREFERRED_PRODUCT: aspartate beta-hydroxylase isoform d
PREFERRED_PRODUCT: aspartate beta-hydroxylase isoform e
SUMMARY: Summary: This gene is thought to play an important role in calcium homeostasis. Alternative splicing of this gene results in five transcript variants which vary in protein translation, the coding of catalytic domains, and tissue expression. Variation among these transcripts impacts their functions which involve roles in the calcium storage and release process in the endoplasmic and sarcoplasmic reticulum as well as hydroxylation of aspartic acid and asparagine in epidermal growth factor-like domains of various proteins.
CHR: 8
STS: RH66780|8|70832|na|seq_map|epcr
COMP: 20910|8|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=8&MAPS=genes-r-org/rat-chr/human%3A8,genes-r-org/mouse-chr/human%3A8,genes-r-org/human-chr8&query=e%3A444[id]+AND+gene[obj_type]&QSTR=asph&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: humbug
ALIAS_PROT: junctate
ALIAS_PROT: junctin isoform 1
ALIAS_PROT: peptide-aspartate beta-dioxygenase
ALIAS_PROT: aspartyl/asparaginyl-beta-hydroxylase
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=413557
UNIGENE: Hs.413557
OMIM: 600582
ECNUM: 1.14.11.16
MAP: 8q12.1|RefSeq|C|
MAPLINK: default_human_gene|ASPH
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=444
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=444[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:454147
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032466
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032468
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032466
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032468
PMID: 12713872,12477932,12130746,12118090,11007777,10974562,10956665,10767180,8823296,7821814
GO: molecular function|calcium ion binding|NAS|GO:0005509|GOA|11007777
GO: molecular function|calcium ion binding|TAS|GO:0005509|GOA|11007777
GO: molecular function|electron transporter activity|TAS|GO:0005489|GOA|7821814
GO: cellular component|integral to endoplasmic reticulum membrane|IEA|GO:0030176|GOA|na
GO: molecular function|iron ion binding|IEA|GO:0005506|GOA|na
GO: biological process|muscle contraction|TAS|GO:0006936|GOA|10974562
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: molecular function|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|IEA|GO:0016702|GOA|na
GO: molecular function|peptide-aspartate beta-dioxygenase activity|IEA|GO:0004597|GOA|11007777
GO: molecular function|peptide-aspartate beta-dioxygenase activity|TAS|GO:0004597|GOA|11007777
GO: biological process|peptidyl-amino acid modification|IEA|GO:0018193|GOA|na
GO: molecular function|structural constituent of muscle|TAS|GO:0008307|GOA|11007777
>>445
LOCUSID: 445
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000050|16950634|na
NP: NP_000041|4557337
CDD: KOG1706: Argininosuccinate synthase [Amino acid transport and metabolism]|19493|1934|na|7.491680e+02
PRODUCT: argininosuccinate synthetase
TRANSVAR: Transcript Variant: This variant (1) contains a different 5' UTR region, as compared to variant 2.
ASSEMBLY: BC009243,X01630
NM: NM_054012|16950632|na
NP: NP_446464|16950633
CDD: KOG1706: Argininosuccinate synthase [Amino acid transport and metabolism]|19493|1961|na|7.595680e+02
PRODUCT: argininosuccinate synthetase
TRANSVAR: Transcript Variant: This variant (2) contains an alternate 5' UTR, as compared to variant 1.
ASSEMBLY: BC009243
CONTIG: NT_035014.3|29732427|na|97248|153601|+|9|reference
EVID: supported by alignment with mRNA
XM: NM_000050|16950634|na
XP: NP_000041|4557337|na
EVID: supported by alignment with mRNA
XM: NM_054012|16950632|na
XP: NP_446464|16950633|na
ACCNUM: AY034076|19482137|na|na|na
TYPE: g
PROT: AAK67487|19482138|1
ACCNUM: L00081|179052|na|na|na
TYPE: g
PROT: AAA51783|179057|1
ACCNUM: L00084|179055|na|na|na
TYPE: g
PROT: AAA51783|179057|1
ACCNUM: M34903|179045|na|na|na
TYPE: g
PROT: AAA51782|179047|1
ACCNUM: AK027126|10440175|na|na|na
TYPE: m
ACCNUM: BC009243|33870019|na|na|na
TYPE: m
PROT: AAH09243|14328059|1
ACCNUM: BC013224|15301493|na|na|na
TYPE: m
ACCNUM: BC021676|18203821|na|na|na
TYPE: m
PROT: AAH21676|18203822|1
ACCNUM: X01630|28871|na|na|na
TYPE: m
PROT: CAA25771|28872|1
ACCNUM: Z36810|534012|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P00966|20141195|0
OFFICIAL_SYMBOL: ASS
OFFICIAL_GENE_NAME: argininosuccinate synthetase
ALIAS_SYMBOL: ASS1
ALIAS_SYMBOL: CTLN1
PREFERRED_PRODUCT: argininosuccinate synthetase
SUMMARY: Summary: The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two alternatively spliced transcript variants of this gene, which differ in their 5' UTR regions, and thus encode the same protein, have been reported.
CHR: 9
STS: D12S1933|12|9116|D12S1933|na|epcr
STS: RH91535|X|84287|na|na|epcr
STS: G43543|-|94998|na|na|epcr
COMP: 6899|9|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=9&MAPS=genes-r-org/rat-chr/human%3A9,genes-r-org/mouse-chr/human%3A9,genes-r-org/human-chr9&query=e%3A445[id]+AND+gene[obj_type]&QSTR=ass&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=160786
UNIGENE: Hs.160786
OMIM: 603470
ECNUM: 6.3.4.5
MAP: 9q34.1|HUGO|C|
MAPLINK: default_human_gene|ASS
PHENOTYPE: Citrullinemia
PHENOTYPE_ID: 215700
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=445
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=445[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119010
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119010.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_054012
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_054012
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=603470
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+445
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00252+445
DB_DESCR: KEGG pathway: Urea cycle and metabolism of amino groups
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00220+445
PMID: 14570901,12815590,12477932,11941481,11708871,8895530,6321498,6194510,6095035,3513483,3027451,2358466
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|arginine biosynthesis|IEA|GO:0006526|GOA|na
GO: molecular function|argininosuccinate synthase activity|IEA|GO:0004055|GOA|na
GO: cellular component|cytoplasm|TAS|GO:0005737|GOA|6194510
GO: molecular function|ligase activity|IEA|GO:0016874|GOA|na
GO: biological process|urea cycle|TAS|GO:0000050|GOA|2358466
>>446
LOCUSID: 446
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001077|20270462|na|1|1877
ACCNUM: AL160400|12709876|na|53715|49854
TYPE: g
ACCNUM: K01845|179063|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ASSP1
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 1
CHR: 6
MAP: 6p22.1|RefSeq|C|
MAPLINK: default_human_cyto|ASSP1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119011
PMID: 6321498,6093508,1440058
>>447
LOCUSID: 447
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000845|31621294|na|1|1710
CONTIG: NT_022184.13|37547123|na|17853290|17854799|-|2|na
EVID: alignment with NG_000845
XG: NG_000845|31621294|na
ACCNUM: AC092833|20331024|na|52993|51484
TYPE: g
OFFICIAL_SYMBOL: ASSP2
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 2
CHR: 2
MAP: 2p22.1|RefSeq|C|
MAPLINK: default_human_gene|ASSP2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=447
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119017
PMID: 9847074,6093508
>>448
LOCUSID: 448
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001078|20270463|na|1|1868
ACCNUM: K01846|179058|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ASSP3
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 3
CHR: 9
MAP: 9q11-q22|HUGO|C|
MAPLINK: default_human_cyto|ASSP3
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119709
PMID: 6321498,6093508
>>449
LOCUSID: 449
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000846|20128057|na|1|1720
CONTIG: NT_025302.12|37546463|na|966810|968329|+|X|na
EVID: alignment with NG_000846
XG: NG_000846|20128057|na
ACCNUM: AC004616|3264544|na|108898|110417
TYPE: g
OFFICIAL_SYMBOL: ASSP4
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 4
CHR: X
MAP: Xpter-p22|HUGO|C|
MAPLINK: default_human_gene|ASSP4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=449
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119018
PMID: 6093508
>>450
LOCUSID: 450
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000847|20128058|na|1|1698
CONTIG: NT_028405.9|29804531|na|1331475|1332972|+|X|na
EVID: alignment with NG_000847
XG: NG_000847|20128058|na
ACCNUM: AC005000|9857564|na|33188|34685
TYPE: g
OFFICIAL_SYMBOL: ASSP5
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 5
CHR: X
MAP: Xq22-q26|HUGO|C|
MAPLINK: default_human_gene|ASSP5
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=450
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119019
PMID: 6093508
>>451
LOCUSID: 451
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000848|20128059|na|1|1729
CONTIG: NT_011875.10|37546625|na|244436|245964|-|Y|na
EVID: alignment with NG_000848
XG: NG_000848|20128059|na
ACCNUM: AC012502|8748927|na|86442|84914
TYPE: g
OFFICIAL_SYMBOL: ASSP6
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 6
CHR: Y
MAP: Yq11.21|RefSeq|C|
MAPLINK: default_human_gene|ASSP6
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=451
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119020
PMID: 12815422,9847074,6093508,2822495
>>452
LOCUSID: 452
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
ACCNUM: K01847|179059|na|na|na
TYPE: g
ACCNUM: K01848|179060|na|na|na
TYPE: g
ACCNUM: K01849|179061|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ASSP7
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 7
CHR: 3
MAP: 3q12-qter|HUGO|C|
MAPLINK: default_human_cyto|ASSP7
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119021
PMID: 6321498,6093508
>>453
LOCUSID: 453
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_003009|34304063|na|1|1076
CONTIG: NT_016606.16|37540362|na|10995468|10996343|-|4|na
EVID: alignment with NG_003009
XG: NG_003009|34304063|na
ACCNUM: AC093881|16931060|na|129455|128580
TYPE: g
OFFICIAL_SYMBOL: ASSP8
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 8
CHR: 4
MAP: 4q31.22|RefSeq|C|
MAPLINK: default_human_gene|ASSP8
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=453
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119022
PMID: 9847074,6093508
>>454
LOCUSID: 454
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_003022|34328093|na|1|1742
CONTIG: NT_006431.13|29798426|na|3719664|3721205|+|5|reference
EVID: alignment with NG_003022
XG: NG_003022|34328093|na
ACCNUM: AC025175|16356871|na|53146|51605
TYPE: g
OFFICIAL_SYMBOL: ASSP9
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 9
CHR: 5
MAP: 5q11.2|RefSeq|C|
MAPLINK: default_human_gene|ASSP9
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=454
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119023
PMID: 6093508,2435915
>>455
LOCUSID: 455
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_003021|34328087|na|1|1745
CONTIG: NT_029289.10|37550092|na|5771240|5772784|+|5|na
EVID: alignment with NG_003021
XG: NG_003021|34328087|na
ACCNUM: AC132803|27573304|na|115087|116631
TYPE: g
OFFICIAL_SYMBOL: ASSP10
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 10
CHR: 5
MAP: 5q32|RefSeq|C|
MAPLINK: default_human_gene|ASSP10
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=455
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119012
PMID: 6093508,2435915
>>456
LOCUSID: 456
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
ACCNUM: AC078791|14193027|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ASSP11
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 11
CHR: 7
ALIAS_PROT: TCAG_1641141
MAP: 7p15.3|RefSeq|C|
MAPLINK: default_human_cyto|ASSP11
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119013
PMID: 6093508
>>457
LOCUSID: 457
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
ACCNUM: AL353717|16972833|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ASSP12
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 12
CHR: 9
MAP: 9p21.1|RefSeq|C|
MAPLINK: default_human_cyto|ASSP12
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119014
PMID: 6093508
>>458
LOCUSID: 458
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
ACCNUM: AP003057|17939955|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ASSP13
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 13
CHR: 11
MAP: 11q22.3|RefSeq|C|
MAPLINK: default_human_cyto|ASSP13
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119015
PMID: 6093508
>>459
LOCUSID: 459
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
ACCNUM: AC087311|15624852|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ASSP14
OFFICIAL_GENE_NAME: argininosuccinate synthetase pseudogene 14
CHR: 12
MAP: 12p11.21|RefSeq|C|
MAPLINK: default_human_cyto|ASSP14
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119016
PMID: 6093508
>>460
LOCUSID: 460
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_004319|46488922|na
NP: NP_004310|46488923
PRODUCT: astrotactin isoform 1
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer isoform (1).
ASSEMBLY: AB006627,AU132309,BC015438,BC032870,BM722747,BU620695
NM: NM_207108|46488920|na
NP: NP_996991|46488921
PRODUCT: astrotactin isoform 2
TRANSVAR: Transcript Variant: This variant (2) uses a different splice site for the 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when compared to isoform 1.
ASSEMBLY: AB006627,BC015438,BC032870,BM722747
CONTIG: NT_004487.16|37547538|na|5878696|6201391|-|1|reference
EVID: supported by alignment with both mRNA and ESTs (24)
XM: XM_045113|42655863|na
XP: XP_045113|42655864|na
CDD: membrane-attack complex / perforin|smart00457|320|3.431e-30|127.451
ACCNUM: AB006627|2564325|na|na|na
TYPE: m
PROT: BAA22958|2564326|1
ACCNUM: AU132309|10992663|na|na|na
TYPE: m
ACCNUM: BC015438|15930004|na|na|na
TYPE: m
PROT: AAH15438|15930005|1
ACCNUM: BC032870|23273072|na|na|na
TYPE: m
ACCNUM: BM722747|19043547|na|na|na
TYPE: m
ACCNUM: BU620695|23286910|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O14525|12643539|0
OFFICIAL_SYMBOL: ASTN
OFFICIAL_GENE_NAME: astrotactin
ALIAS_SYMBOL: ASTN1
PREFERRED_PRODUCT: astrotactin isoform 1
PREFERRED_PRODUCT: astrotactin isoform 2
CHR: 1
STS: SHGC-75953|-|18110|na|na|epcr
STS: G19776|1|55969|na|seq_map|epcr
STS: A001Y13|1|55970|na|seq_map|epcr
STS: SHGC-30553|1|70955|na|seq_map|epcr
STS: RH64619|1|71818|na|seq_map|epcr
STS: D1S3037|1|79258|D1S3037|seq_map|epcr
COMP: 7233|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A460[id]+AND+gene[obj_type]&QSTR=astn&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6788
UNIGENE: Hs.6788
OMIM: 600904
MAP: 1q25.2|RefSeq|C|
MAPLINK: default_human_gene|ASTN
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=460
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=460[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:3789392
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=AB006627
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004319
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AB006627
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004319
PMID: 9070947,8889548
GO: biological process|cell adhesion|IEA|GO:0007155|GOA|na
GO: biological process|cell migration|NAS|GO:0016477|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|neuronal cell adhesion|NAS|GO:0007158|GOA|na
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
>>461
LOCUSID: 461
LOCUS_CONFIRMED: no
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: WITHDRAWN
OFFICIAL_SYMBOL: ASVS1
OFFICIAL_GENE_NAME: adenovirus/SV40 integration site 1
SUMMARY: DISCONTINUED: LocusID 461, entry withdrawn by HGNC
CHR: 4
MAP: 4p16.2|HUGO|C|
MAPLINK: default_human_cyto|ASVS1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128400
>>462
LOCUSID: 462
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_000488|50541941|na
NP: NP_000479|4502261
CDD: cd00172: SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms|5278|951|na|3.702890e+02
PRODUCT: serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
ASSEMBLY: AF130100,BC022309,D29832,H65301,R84868
CONTIG: NT_004487.16|37547538|na|2921519|2934889|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_000488|50541941|na
XP: NP_000479|4502261|na
ACCNUM: AF386078|14488406|na|na|na
TYPE: g
PROT: AAK60337|14326586|1
ACCNUM: L00190|179128|na|na|na
TYPE: g
PROT: AAB40025|179130|1
ACCNUM: M21642|179159|na|na|na
TYPE: g
PROT: AAA51796|179161|1
ACCNUM: X68793|28906|na|na|na
TYPE: g
PROT: CAA48690|28907|1
ACCNUM: AF130100|11493503|na|na|na
TYPE: m
PROT: AAG35525|11493504|1
ACCNUM: BC022309|18490838|na|na|na
TYPE: m
PROT: AAH22309|18490839|1
ACCNUM: D29832|576553|na|na|na
TYPE: m
PROT: BAA06212|576554|1
ACCNUM: H65301|1024041|na|na|na
TYPE: m
ACCNUM: R84868|943274|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P01008|113936|0
OFFICIAL_SYMBOL: SERPINC1
OFFICIAL_GENE_NAME: serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
ALIAS_SYMBOL: AT3
ALIAS_SYMBOL: ATIII
ALIAS_SYMBOL: MGC22579
PREFERRED_PRODUCT: serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
CHR: 1
STS: RH94319|-|91258|na|na|epcr
STS: SERPINC1|F1|266818|na|na|epcr
COMP: 20139|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A462[id]+AND+gene[obj_type]&QSTR=serpinc1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: antithrombin III
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75599
UNIGENE: Hs.75599
OMIM: 107300
MAP: 1q23-q25.1|HUGO|C|
MAPLINK: default_human_gene|SERPINC1
PHENOTYPE: Antithrombin III deficiency
PHENOTYPE_ID: 107300
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=462
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=462[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119024
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000488
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000488
DB_DESCR: KEGG pathway: Coagulation cascade
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04610+462
DB_DESCR: KEGG pathway: Complement and coagulation cascades
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04610+462
DB_DESCR: Antithrombin Mutation Database
DB_LINK: http://www.med.ic.ac.uk/dd/ddhc/default.htm
PMID: 14718574,14532267,12894857,12878203,12695507,12595305,12556442,12477932,12466122,12369826,12353073,12193972,11861278,11854268,11754060,11686319,11686316,3979120,3191114,2991253,1873223
GO: biological process|blood coagulation|IEA|GO:0007596|GOA|na
GO: cellular component|extracellular|NAS|GO:0005576|GOA|14718574
GO: molecular function|heparin binding|IEA|GO:0008201|GOA|na
GO: molecular function|protein binding|IPI|GO:0005515|GOA|12878203
GO: molecular function|serine-type endopeptidase inhibitor activity|NAS|GO:0004867|GOA|12878203
>>463
LOCUSID: 463
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_006885|19923286|na
NP: NP_008816|19923287
CDD: cd00086: Homeodomain|16525|175|na|7.152360e+01
PRODUCT: AT-binding transcription factor 1
ASSEMBLY: L32832
CONTIG: NT_010498.14|37541544|na|21542547|21803866|-|16|reference
EVID: supported by alignment with mRNA
XM: NM_006885|19923286|na
XP: NP_008816|19923287|na
ACCNUM: AC002044|2347079|na|na|na
TYPE: g
PROT: AAC31674|3417298|1
ACCNUM: AC004943|21070767|na|na|na
TYPE: g
PROT: AAC79153|3924672|1
ACCNUM: BC029653|20987425|na|na|na
TYPE: m
PROT: AAH29653|20987426|1
ACCNUM: D10250|219429|na|na|na
TYPE: m
PROT: BAA01095|219430|1
ACCNUM: L32832|976346|na|na|na
TYPE: m
PROT: AAC14462|976347|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q15911|18202510|0
OFFICIAL_SYMBOL: ATBF1
OFFICIAL_GENE_NAME: AT-binding transcription factor 1
ALIAS_SYMBOL: ZFHX3
PREFERRED_PRODUCT: AT-binding transcription factor 1
CHR: 16
STS: RH65127|16|37848|na|seq_map|epcr
COMP: 21366|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/rat-chr/human%3A16,genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A463[id]+AND+gene[obj_type]&QSTR=atbf1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: AT motif-binding factor 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=108806
UNIGENE: Hs.108806
OMIM: 104155
MAP: 16q22.3-q23.1|HUGO|C|
MAPLINK: default_human_gene|ATBF1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=463
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=463[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:392090
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006885
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006885
PMID: 14715251,12477932,8666409,7592926,1719379
GO: molecular function|RNA polymerase II transcription factor activity, enhancer binding|TAS|GO:0003705|GOA|1719379
GO: cellular component|nucleus|TAS|GO:0005634|GOA|1719379
GO: biological process|regulation of transcription, DNA-dependent|TAS|GO:0006355|GOA|1719379
GO: molecular function|zinc ion binding|IEA|GO:0008270|GOA|na
>>464
LOCUSID: 464
CURRENT_LOCUSID: 85300
ORGANISM: Homo sapiens
>>465
LOCUSID: 465
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ATD
OFFICIAL_GENE_NAME: asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)
CHR: 12
ALIAS_PROT: asphyxiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)
OMIM: 208500
MAP: 12p12.2-p11.21|HUGO|C|
MAPLINK: default_human_cyto|ATD
PHENOTYPE: Asphyxiating thoracic dystrophy
PHENOTYPE_ID: 208500
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:696353
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=208500
PMID: 12807964,7702088
>>466
LOCUSID: 466
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: VALIDATED
NM: NM_005171|38261963|na
NP: NP_005162|4885073
CDD: pfam02173: pKID domain|6643|121|na|5.076450e+01
CDD: pfam00170: bZIP transcription factor|5934|105|na|4.455680e+01
CDD: KOG3584: cAMP response element binding protein and related transcription factors [Transcription]|21366|537|na|2.111820e+02
PRODUCT: activating transcription factor 1
ASSEMBLY: BC029619,BG502726,BG545632,BG611151,BG611861,BU682151,BX102171
CONTIG: NT_029419.10|29803948|na|13301167|13357367|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_005171|38261963|na
XP: NP_005162|4885073|na
ACCNUM: X55544|287642|na|na|na
TYPE: g
PROT: CAA39150|287643|1
ACCNUM: BC029619|20810444|na|na|na
TYPE: m
PROT: AAH29619|20810445|1
ACCNUM: BG502726|13464243|na|na|na
TYPE: m
ACCNUM: BG545632|13544297|na|na|na
TYPE: m
ACCNUM: BG611151|13662522|na|na|na
TYPE: m
ACCNUM: BG611861|13663232|na|na|na
TYPE: m
ACCNUM: BU682151|23532770|na|na|na
TYPE: m
ACCNUM: BX102171|27831645|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P18846|1168542|0
OFFICIAL_SYMBOL: ATF1
OFFICIAL_GENE_NAME: activating transcription factor 1
ALIAS_SYMBOL: TREB36
PREFERRED_PRODUCT: activating transcription factor 1
CHR: 12
STS: RH44890|-|8818|na|na|epcr
STS: RH71282|12|16866|na|seq_map|epcr
STS: A009H30|-|39118|na|na|epcr
STS: RH102820|-|97154|na|na|epcr
COMP: 3790|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A466[id]+AND+gene[obj_type]&QSTR=atf1&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=36908
UNIGENE: Hs.36908
OMIM: 123803
MAP: 12q13|HUGO|C|
MAPLINK: default_human_gene|ATF1
REL2: 155807|NP_057852|Vpr, p15|activates|NP_005162|activating transcription factor 1|HIV-1 Vpr potentiates the trans-activation, but not the trans-repression, properties of the glucocorticoid receptor on activating protein 1-regulated simple promoters|12444143
REL2: 155807|NP_057852|Vpr, p15|activates|NP_005162|activating transcription factor 1|HIV-1 Vpr activation of activating protein 1-regulated promoters is linked to Vpr regulation of IL-12, CD44, Toll-like receptor 4, indolamine 2,3-dioxygenase, macrophage receptor with collagenous structure, and thrombospondin 1|12444143
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=466
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=466[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:304637
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005171
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005171
DB_DESCR: PharmGKB: PA25083
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25083
PMID: 14767471,12760902,12748173,12734209,12631284,12527906,12477932,12444143,12391222,12195699,11992546,11877423,8889548,8401579,2516827,2196176
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: molecular function|protein binding|IEA|GO:0005515|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: molecular function|transcription factor activity|TAS|GO:0003700|GOA|2196176,8401579
>>467
LOCUSID: 467
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001674|4502262|na
NP: NP_001665|4502263
CDD: smart00338: basic region leucin zipper|8970|86|na|3.711970e+01
CDD: KOG1414: Transcriptional activator FOSB/c-Fos and related bZIP transcription factors [Transcription]|19203|136|na|5.673600e+01
PRODUCT: activating transcription factor 3 long isoform
TRANSVAR: Transcript Variant:  This splice variant of ATF3 gene lacks a 145 bp exon containing a stop codon. As a result it encodes the full length protein.
ASSEMBLY: L19871
NM: NM_004024|4755127|na
NP: NP_004015|4755128
PRODUCT: activating transcription factor 3 delta Zip isoform
TRANSVAR: Transcript Variant:  ATF3 delta Zip splice variant contains a 145 bp exon insert with an in-frame termination codon. It thus encodes a truncated protein.
ASSEMBLY: L19871
CONTIG: NT_021877.16|37539616|na|6218019|6230005|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_001674|4502262|na
XP: NP_001665|4502263|na
EVID: supported by alignment with mRNA
XM: NM_004024|4755127|na
XP: NP_004015|4755128|na
ACCNUM: AB066566|18369792|na|na|na
TYPE: m
PROT: BAB84092|18369793|1
ACCNUM: AB078026|21322757|na|na|na
TYPE: m
PROT: BAC00495|21322758|1
ACCNUM: AB078027|21322759|na|na|na
TYPE: m
PROT: BAC00496|21322760|1
ACCNUM: AK125255|34531289|na|na|na
TYPE: m
ACCNUM: BC006322|33871560|na|na|na
TYPE: m
PROT: AAH06322|13623445|1
ACCNUM: L19871|442421|na|na|na
TYPE: m
PROT: AAA20506|442422|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P18847|1168543|0
OFFICIAL_SYMBOL: ATF3
OFFICIAL_GENE_NAME: activating transcription factor 3
PREFERRED_PRODUCT: activating transcription factor 3 delta Zip isoform
PREFERRED_PRODUCT: activating transcription factor 3 long isoform
SUMMARY: Summary: Activating transcription factor 3 (ATF3)is a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors.  It encodes a protein with a calculated molecular mass of 22 kD. ATF3 represses rather than activates transcription from promoters with ATF binding elements. An alternatively spliced form of ATF3 (ATF3 delta Zip) encodes a truncated form ATF3 protein lacking the leucine zipper protein-dimerization motif and does not bind to DNA. In contrast to ATF3, ATF3 delta Zip stimulates transcription presumably by sequestering inhibitory co-factors away from the promoter.  It is possible that alternative splicing of the ATF3 gene may be physiologically important in the regulation of target genes.
CHR: 1
STS: SHGC-12563|1|43673|na|seq_map|epcr
STS: RH17630|1|77634|na|na|epcr
STS: SHGC-76330|1|82723|na|seq_map|epcr
STS: PMC117192P1|-|270318|na|na|epcr
COMP: 1265|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A467[id]+AND+gene[obj_type]&QSTR=atf3&cmd=focus&fill=10|Mouse|Rat
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=460
UNIGENE: Hs.460
OMIM: 603148
MAP: 1q32.3|RefSeq|C|
MAPLINK: default_human_gene|ATF3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=467
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=467[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:370911
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004024
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004024
PMID: 14702039,12881527,12833146,12477932,12392999,12386811,12372430,12161427,12034827,11792711,11726207,8576171,7515060,2516827
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: molecular function|transcription corepressor activity|TAS|GO:0003714|GOA|7515060
GO: molecular function|transcription factor activity|TAS|GO:0003700|GOA|7515060
>>468
LOCUSID: 468
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001675|33469975|na
NP: NP_001666|33469976
CDD: pfam00170: bZIP transcription factor|5934|84|na|3.646760e+01
CDD: KOG4571: Activating transcription factor 4 [Transcription]|22346|546|na|2.144920e+02
PRODUCT: activating transcription factor 4
TRANSVAR: Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform.
ASSEMBLY: D90209
NM: NM_182810|33469973|na
NP: NP_877962|33469974
CDD: pfam00170: bZIP transcription factor|5934|84|na|3.646760e+01
CDD: KOG4571: Activating transcription factor 4 [Transcription]|22346|546|na|2.144920e+02
PRODUCT: activating transcription factor 4
TRANSVAR: Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform.
ASSEMBLY: AK057751
CONTIG: NT_011520.9|29807292|na|19225623|19227745|+|22|reference
EVID: supported by alignment with mRNA
XM: NM_001675|33469975|na
XP: NP_001666|33469976|na
EVID: supported by alignment with mRNA
XM: NM_182810|33469973|na
XP: NP_877962|33469974|na
ACCNUM: AL022312|4914501|na|na|na
TYPE: g
PROT: CAB45284|5102567|1
ACCNUM: AK057751|16553678|na|na|na
TYPE: m
ACCNUM: BC008090|14198041|na|na|na
TYPE: m
PROT: AAH08090|14198042|1
ACCNUM: BC011994|15080507|na|na|na
TYPE: m
PROT: AAH11994|15080508|1
ACCNUM: BC016855|34190788|na|na|na
TYPE: m
PROT: AAH16855|16877178|1
ACCNUM: BC022088|33988768|na|na|na
TYPE: m
PROT: AAH22088|18314379|1
ACCNUM: BC024775|19354343|na|na|na
TYPE: m
PROT: AAH24775|19354344|1
ACCNUM: BC044895|27924376|na|na|na
TYPE: m
PROT: AAH44895|27924377|1
ACCNUM: BC073754|49258095|na|na|na
TYPE: m
PROT: AAH73754|49258096|1
ACCNUM: BC073990|49258081|na|na|na
TYPE: m
PROT: AAH73990|49258082|1
ACCNUM: CR450353|47496652|na|na|na
TYPE: m
PROT: CAG29349|47496653|1
ACCNUM: CR456384|47678298|na|na|na
TYPE: m
PROT: CAG30270|47678299|1
ACCNUM: D90209|220087|na|na|na
TYPE: m
PROT: BAA14234|220088|1
ACCNUM: M86842|181040|na|na|na
TYPE: m
PROT: AAA52071|181041|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P18848|114326|0
OFFICIAL_SYMBOL: ATF4
OFFICIAL_GENE_NAME: activating transcription factor 4 (tax-responsive enhancer element B67)
ALIAS_SYMBOL: CREB2
ALIAS_SYMBOL: TXREB
ALIAS_SYMBOL: CREB-2
ALIAS_SYMBOL: TAXREB67
PREFERRED_PRODUCT: activating transcription factor 4
SUMMARY: Summary: This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromsome at q28 in a region containing a large inverted duplication.
CHR: 22
STS: RH71390|17|14034|na|seq_map|epcr
COMP: 1266|22|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=22&MAPS=genes-r-org/rat-chr/human%3A22,genes-r-org/mouse-chr/human%3A22,genes-r-org/human-chr22&query=e%3A468[id]+AND+gene[obj_type]&QSTR=atf4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: cAMP response element-binding protein 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181243
UNIGENE: Hs.181243
OMIM: 604064
MAP: 22q13.1|RefSeq|C|
MAPLINK: default_human_gene|ATF4
REL2: 155945|NP_057855|Vpu, p16|stabilizes|NP_001666|activating transcription factor 4|HIV-1 Vpu is a strong competitive inhibitor of beta-TrCP and impairs the degradation of SCF-beta-TrCP substrates such as IKBalpha, ATF4 and beta-catenin|14561767
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=468
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=468[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132551
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001675
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001675
DB_DESCR: KEGG pathway: MAPK signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04010+468
PMID: 14747470,14695168,14630918,14561767,12860379,12477932,11960987,1847461,1534408
GO: molecular function|DNA binding|IEA|GO:0003677|GOA|1847461
GO: molecular function|DNA binding|TAS|GO:0003677|GOA|1847461
GO: molecular function|RNA polymerase II transcription factor activity|TAS|GO:0003702|GOA|1534408
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
>>469
LOCUSID: 469
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001080|29789823|na|1|1442
ACCNUM: U03712|434667|na|1|1442
TYPE: g
OFFICIAL_SYMBOL: ATF4P
OFFICIAL_GENE_NAME: activating transcription factor 4 pseudogene (tax-responsive enhancer element B67 pseudogene)
ALIAS_SYMBOL: TXREBP
ALIAS_SYMBOL: TAXREB67P
CHR: X
ALIAS_PROT: cyclic-AMP-dependent transcription factor ATF-4 pseudogene
MAP: Xq28|HUGO|C|
MAPLINK: default_human_cyto|ATF4P
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:371753
PMID: 11709543,8088803
>>470
LOCUSID: 470
LOCUS_CONFIRMED: yes
LOCUS_TYPE: phenotype only
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ATHS
OFFICIAL_GENE_NAME: atherosclerosis susceptibility (lipoprotein associated)
ALIAS_SYMBOL: ALP
CHR: 19
OMIM: 108725
MAP: 19p13.3-p13.2|HUGO|C|
MAPLINK: default_human_cyto|ATHS
PHENOTYPE: Atherosclerosis, susceptibility to
PHENOTYPE_ID: 108725
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128803
PMID: 1731344
>>471
LOCUSID: 471
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_004044|39725714|na
NP: NP_004035|20127454
CDD: pfam02142: MGS-like domain|24611|210|na|8.487130e+01
CDD: pfam01808: AICARFT/IMPCHase bienzyme|25824|962|na|3.746760e+02
CDD: COG0138: AICAR transformylase/IMP cyclohydrolase PurH (only IMP cyclohydrolase domain in Aful) [Nucleotide transport and metabolism]|10013|218|na|8.796210e+01
PRODUCT: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ASSEMBLY: BC008879
CONTIG: NT_005403.14|37551287|na|66386251|66423894|+|2|reference
EVID: supported by alignment with mRNA
XM: NM_004044|39725714|na
XP: NP_004035|20127454|na
ACCNUM: AB062403|21104439|na|na|na
TYPE: m
PROT: BAB93490|21104440|1
ACCNUM: BC008879|39644838|na|na|na
TYPE: m
PROT: AAH08879|14250818|1
ACCNUM: D82348|1311461|na|na|na
TYPE: m
PROT: BAA11559|1311462|1
ACCNUM: D89976|2317691|na|na|na
TYPE: m
PROT: BAA21762|2317692|1
ACCNUM: U37436|1263195|na|na|na
TYPE: m
PROT: AAA97405|1263196|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P31939|23831360|0
OFFICIAL_SYMBOL: ATIC
OFFICIAL_GENE_NAME: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ALIAS_SYMBOL: PURH
ALIAS_SYMBOL: AICAR
ALIAS_SYMBOL: AICARFT
ALIAS_SYMBOL: IMPCHASE
PREFERRED_PRODUCT: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
CHR: 2
STS: RH11837|2|4204|na|seq_map|epcr
ALIAS_PROT: AICARFT/IMPCHASE
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=90280
UNIGENE: Hs.90280
OMIM: 601731
ECNUM: 2.1.2.3
ECNUM: 3.5.4.10
MAP: 2q35|RefSeq|C|
MAPLINK: default_human_gene|ATIC
PHENOTYPE: AICA-ribosiduria due to ATIC deficiency
PHENOTYPE_ID: 608688
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=471
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=471[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6108041
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004044
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004044
DB_DESCR: KEGG pathway: Purine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00230+471
DB_DESCR: KEGG pathway: One carbon pool by folate
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00670+471
PMID: 15114530,14966129,12477932,11948179,9378707,8867801,8567683
GO: molecular function|IMP cyclohydrolase activity|TAS|GO:0003937|GOA|8567683
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: biological process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|TAS|GO:0006139|GOA|8567683
GO: molecular function|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|TAS|GO:0004643|GOA|8567683
GO: biological process|purine nucleotide biosynthesis|IEA|GO:0006164|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>472
LOCUSID: 472
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000051|20336202|na
NP: NP_000042|20336203
CDD: pfam02259: FAT domain|23321|744|na|2.907530e+02
CDD: pfam02260: FATC domain|2772|129|na|5.357980e+01
CDD: cd00142: Phosphoinositide 3-kinase, catalytic domain|3751|670|na|2.621270e+02
CDD: KOG0892: Protein kinase ATM/Tel1, involved in telomere length regulation and DNA repair [Signal transduction mechanisms, Chromatin structure and dynamics, Replication, recombination and repair, Cell cycle control, cell division, chromosome partitioning]|18685|9247|na|3.566100e+03
PRODUCT: ataxia telangiectasia mutated protein isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longest isoform (1).
ASSEMBLY: U26455,U33841
NM: NM_138292|20336198|na
NP: NP_612149|20336199
CDD: pfam02259: FAT domain|23321|752|na|2.938340e+02
CDD: pfam02260: FATC domain|2772|129|na|5.357980e+01
CDD: cd00142: Phosphoinositide 3-kinase, catalytic domain|3751|673|na|2.632820e+02
CDD: KOG0892: Protein kinase ATM/Tel1, involved in telomere length regulation and DNA repair [Signal transduction mechanisms, Chromatin structure and dynamics, Replication, recombination and repair, Cell cycle control, cell division, chromosome partitioning]|18685|6050|na|2.334620e+03
PRODUCT: ataxia telangiectasia mutated protein isoform 2
TRANSVAR: Transcript Variant: This variant (2) contains a distinct 5' UTR and is missing part of the 5' end of the coding region when compared to variant 1. The resulting isoform (2) has a truncated N-terminus when compared to isoform 1.
ASSEMBLY: BC022307,U26455
NM: NM_138293|20336200|na
NP: NP_612150|20336201
CDD: KOG0892: Protein kinase ATM/Tel1, involved in telomere length regulation and DNA repair [Signal transduction mechanisms, Chromatin structure and dynamics, Replication, recombination and repair, Cell cycle control, cell division, chromosome partitioning]|18685|506|na|1.990690e+02
PRODUCT: ataxia telangiectasia mutated protein isoform 3
TRANSVAR: Transcript Variant: This variant (3) lacks a large portion of the 5' and 3' regions and contains distinct 5' and 3' UTRs when compared to variant 1. The resulting isoform (3) is a protein truncated at both termini, as compared to isoform 1.
ASSEMBLY: BC022307,U33841
CONTIG: NT_033899.6|37540935|na|11637627|11780545|+|11|reference
EVID: supported by alignment with mRNA
XM: NM_000051|20336202|na
XP: NP_000042|20336203|na
EVID: supported by alignment with mRNA
XM: NM_138292|20336198|na
XP: NP_612149|20336199|na
EVID: supported by alignment with mRNA
XM: NM_138293|20336200|na
XP: NP_612150|20336201|na
ACCNUM: AY220758|28144170|na|na|na
TYPE: g
PROT: AAO26044|28144171|1
ACCNUM: U55757|1497929|na|na|na
TYPE: g
PROT: AAB38309|1497931|1
PROT: AAB38310|1185510|1
ACCNUM: U67092|2088522|na|na|na
TYPE: g
PROT: AAC51298|2088523|1
ACCNUM: U82828|2304970|na|na|na
TYPE: g
PROT: AAB65827|2304971|1
ACCNUM: BC007023|34782885|na|na|na
TYPE: m
ACCNUM: BC022306|18490163|na|na|na
TYPE: m
ACCNUM: BC022307|18490835|na|na|na
TYPE: m
ACCNUM: U26455|870785|na|na|na
TYPE: m
PROT: AAA86520|870786|1
ACCNUM: U33841|1063620|na|na|na
TYPE: m
PROT: AAC50289|1063621|1
ACCNUM: X91196|1154662|na|na|na
TYPE: m
PROT: CAA62603|1154664|1
ACCNUM: Y08455|3218313|na|na|na
TYPE: m
PROT: CAA69711|3218314|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13315|13878337|0
OFFICIAL_SYMBOL: ATM
OFFICIAL_GENE_NAME: ataxia telangiectasia mutated (includes complementation groups A, C and D)
ALIAS_SYMBOL: AT1
ALIAS_SYMBOL: ATA
ALIAS_SYMBOL: ATC
ALIAS_SYMBOL: ATD
ALIAS_SYMBOL: ATE
ALIAS_SYMBOL: ATDC
PREFERRED_PRODUCT: ataxia telangiectasia mutated protein isoform 1
PREFERRED_PRODUCT: ataxia telangiectasia mutated protein isoform 2
PREFERRED_PRODUCT: ataxia telangiectasia mutated protein isoform 3
SUMMARY: Summary: The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. At least three alternatively spliced transcript variants, which encode distinct isoforms, have been identified.
CHR: 11
STS: SHGC-35479|11|69806|na|seq_map|epcr
STS: RH102244|-|96578|na|na|epcr
STS: D11S2179|-|150240|D11S2179|na|epcr
STS: D11S3347|-|152589|D11S3347|na|epcr
COMP: 30952|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A472[id]+AND+gene[obj_type]&QSTR=atm&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: AT mutated
ALIAS_PROT: AT protein
ALIAS_PROT: serine-protein kinase ATM
ALIAS_PROT: AT complementation group A
ALIAS_PROT: AT complementation group C
ALIAS_PROT: AT complementation group D
ALIAS_PROT: AT complementation group E
ALIAS_PROT: human phosphatidylinositol 3-kinase homolog
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=526394
UNIGENE: Hs.526394
OMIM: 607585
MAP: 11q22-q23|HUGO|C|
MAPLINK: default_human_gene|ATM
REL2: 155348|NP_705928|integrase|interacts with|NP_000042|ataxia telangiectasia mutated protein|ATM is proposed to play a role in the prevention of HIV-1 Integrase mediated cell killing|11158303
PHENOTYPE: Ataxia-telangiectasia
PHENOTYPE_ID: 208900
PHENOTYPE: Breast cancer, susceptibility to
PHENOTYPE_ID: 114480
PHENOTYPE: Lymphoma, B-cell non-Hodgkin, somatic
PHENOTYPE_ID: 607585
PHENOTYPE: Lymphoma, mantle cell
PHENOTYPE_ID: 607585
PHENOTYPE: T-cell prolymphocytic leukemia, sporadic
PHENOTYPE_ID: 607585
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=472
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=472[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:593364
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/593364.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000051
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000051
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=208900
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=607585
DB_DESCR: Genes and Disease
DB_LINK: http://www.ncbi.nlm.nih.gov/disease/ATM.html
DB_DESCR: KEGG pathway: Apoptosis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04210+472
DB_DESCR: KEGG pathway: Cell cycle
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04110+472
DB_DESCR: KEGG pathway: Toll-like receptor signaling pathway
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa04620+472
DB_DESCR: PharmGKB: PA61
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA61
DB_DESCR: Ataxia-Telangiectasia Mutation Database
DB_LINK: http://www.vmresearch.org/atm.htm
PMID: 15174027,15073328,15064416,15048089,15039971,15024084,14983937,14966265,14744854,14744762,14695534,14695186,14695167,14657032,14628072,14570874,14553952,14532133,12969974,12958068,12955071,12935922,12926986,12915485,12882767,12875964,12861053,12860021,12833146,12815592,12813460,12810666,12782595,12773400,12676583,12673126,12660173,12650908,12646636,12645530,12637545,12628935,12612651,12556884,12545170,12526805,12519769,12513844,12511424,12477932,12429935,12420214,12409306,12376469,12362033,12234250,12151394,12149228,12091354,12072552,12065055,12036888,12034743,12032824,11996792,11992555,11927575,11897822,11889466,11875057,11859564,11830610,11830600,11805335,11723136,11418864,11158303,10802669,10550055,9836640,9733515,9199932,8789452,8665503,8589678,8521392,7792600,7702088
GO: molecular function|DNA binding|IEA|GO:0003677|GOA|na
GO: biological process|DNA repair|TAS|GO:0006281|GOA|9733515
GO: cellular component|intracellular|IEA|GO:0005622|GOA|na
GO: biological process|meiotic recombination|TAS|GO:0007131|GOA|7792600
GO: biological process|negative regulation of cell cycle|IEA|GO:0045786|GOA|na
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: molecular function|phosphotransferase activity, alcohol group as acceptor|IEA|GO:0016773|GOA|na
GO: molecular function|protein serine/threonine kinase activity|TAS|GO:0004674|GOA|9733515
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: biological process|signal transduction|TAS|GO:0007165|GOA|7792600
GO: molecular function|transcription factor activity|IEA|GO:0003700|GOA|na
GO: molecular function|transferase activity|IEA|GO:0016740|GOA|na
>>473
LOCUSID: 473
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_012102|19923392|na
NP: NP_036234|19923393
CDD: pfam01448: ELM2 domain|23206|133|na|5.539360e+01
CDD: pfam03154: Atrophin-1 family|23425|159|na|6.565790e+01
CDD: cd00202: Zinc finger DNA binding domain|16540|146|na|6.038910e+01
CDD: smart00439: Bromo adjacent homology domain|14991|122|na|5.108700e+01
CDD: smart00717: SANT  SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains|4025|104|na|4.405000e+01
CDD: KOG2133: Transcriptional corepressor Atrophin-1/DRPLA [General function prediction only]|19919|91|na|3.937520e+01
PRODUCT: arginine-glutamic acid dipeptide (RE) repeats
ASSEMBLY: AB036737
CONTIG: NT_021937.16|37539904|na|2539516|3004583|-|1|reference
EVID: supported by alignment with mRNA
XM: NM_012102|19923392|na
XP: NP_036234|19923393|na
ACCNUM: AB007927|3413877|na|na|na
TYPE: m
PROT: BAA32303|40788267|2
ACCNUM: AB036737|8096339|na|na|na
TYPE: m
PROT: BAA95898|8096340|1
ACCNUM: AF016005|3411014|na|na|na
TYPE: m
PROT: AAC31120|3411015|1
ACCNUM: AF118275|4680230|na|na|na
TYPE: m
PROT: AAD27584|4680231|1
ACCNUM: AL050176|4884388|na|na|na
TYPE: m
ACCNUM: BC062342|38382753|na|na|na
TYPE: m
PROT: AAH62342|38382754|1
OFFICIAL_SYMBOL: RERE
OFFICIAL_GENE_NAME: arginine-glutamic acid dipeptide (RE) repeats
ALIAS_SYMBOL: ARG
ALIAS_SYMBOL: ARP
ALIAS_SYMBOL: DNB1
ALIAS_SYMBOL: ATN1L
ALIAS_SYMBOL: KIAA0458
PREFERRED_PRODUCT: arginine-glutamic acid dipeptide (RE) repeats
CHR: 1
STS: SHGC-74183|1|486|na|seq_map|epcr
STS: SHGC-74174|-|10029|na|na|epcr
STS: D1S1833E|-|10084|D1S1833E|na|epcr
STS: SHGC-34994|-|12534|na|na|epcr
STS: D1S3607|-|15555|D1S3607|na|epcr
STS: D1S1160|-|15713|D1S1160|na|epcr
STS: RH46183|-|18790|na|na|epcr
STS: D1S1829E|1|21591|D1S1829E|seq_map|epcr
STS: SHGC-74179|-|28248|na|na|epcr
STS: AL009675|-|30321|na|na|epcr
STS: D1S1615|-|30708|D1S1615|na|epcr
STS: RH64522|-|48376|na|na|epcr
STS: AL009874|-|61090|na|na|epcr
STS: SHGC-32940|1|69081|na|seq_map|epcr
STS: D1S3372|1|74653|D1S3372|seq_map|epcr
STS: RH68650|-|79668|na|na|epcr
STS: SHGC-74177|-|80009|na|na|epcr
STS: AL033782|-|93634|na|na|epcr
STS: AL033866|-|93742|na|na|epcr
STS: RH103328|-|97659|na|na|epcr
STS: G59360|-|136525|na|na|epcr
STS: G59395|-|136560|na|na|epcr
STS: D1S1262|-|149459|D1S1262|na|epcr
STS: D1S1410|-|149606|D1S1410|na|epcr
STS: SHGC-110581|-|167918|na|na|epcr
STS: SHGC-110595|-|167927|na|na|epcr
STS: SHGC-132756|-|170876|na|na|epcr
STS: SHGC-144829|-|172445|na|na|epcr
STS: SHGC-132483|1|173922|na|seq_map|epcr
STS: SHGC-149864|-|177265|na|na|epcr
COMP: 8101|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A473[id]+AND+gene[obj_type]&QSTR=rere&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: atrophin 1-like
ALIAS_PROT: arginine glutamic acid dipeptide RE repeats
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194369
UNIGENE: Hs.194369
OMIM: 605226
MAP: 1p36.1-p36.2|RefSeq|C|
MAPLINK: default_human_gene|RERE
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=473
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=473[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9732372
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012102
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012102
DB_DESCR: HUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
DB_LINK: http://zearth.kazusa.or.jp/huge/gfpage/KIAA0458
DB_DESCR: KEGG pathway: Dentatorubropallidoluysian atrophy (DRPLA)
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa05050+473
DB_DESCR: PharmGKB: PA34332
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA34332
PMID: 12477932,10814707,10729226,9455484
GO: cellular component|nucleus|NAS|GO:0005634|GOA|10814707
GO: molecular function|protein binding|NAS|GO:0005515|GOA|10814707
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: molecular function|transcription factor activity|IEA|GO:0003700|GOA|na
>>474
LOCUSID: 474
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005172|4885074|na
NP: NP_005163|4885075
CDD: smart00353: helix loop helix domain|24259|126|na|5.247430e+01
CDD: KOG4395: Transcription factor Atonal, contains HTH domain [Transcription]|22171|403|na|1.596090e+02
PRODUCT: atonal homolog 1
ASSEMBLY: U61148
CONTIG: NT_016354.16|37539910|na|19244782|19245846|+|4|reference
EVID: supported by alignment with mRNA
XM: NM_005172|4885074|na
XP: NP_005163|4885075|na
ACCNUM: U61148|1575354|na|na|na
TYPE: g
PROT: AAB41305|1575355|1
ACCNUM: BC069145|46575769|na|na|na
TYPE: m
PROT: AAH69145|46575770|1
ACCNUM: BC069578|47480322|na|na|na
TYPE: m
PROT: AAH69578|47480323|1
ACCNUM: BC069594|47479666|na|na|na
TYPE: m
PROT: AAH69594|47479667|1
ACCNUM: BC069604|47482159|na|na|na
TYPE: m
PROT: AAH69604|47482160|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q92858|3913115|0
OFFICIAL_SYMBOL: ATOH1
OFFICIAL_GENE_NAME: atonal homolog 1 (Drosophila)
ALIAS_SYMBOL: ATH1
ALIAS_SYMBOL: HATH1
ALIAS_SYMBOL: MATH-1
PREFERRED_PRODUCT: atonal homolog 1
SUMMARY: Summary: This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47.
CHR: 4
STS: RH70687|-|57710|na|na|epcr
COMP: 31297|4|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=4&MAPS=genes-r-org/mouse-chr/human%3A4,genes-r-org/human-chr4&query=e%3A474[id]+AND+gene[obj_type]&QSTR=atoh1&cmd=focus&fill=10|Mouse
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=532680
UNIGENE: Hs.532680
OMIM: 601461
MAP: 4q22|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601461">OMIM</a>|C|
MAPLINK: default_human_gene|ATOH1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=474
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=474[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:5885807
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005172
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005172
PMID: 12477932,12209986,11889557,8872459
GO: biological process|central nervous system development|TAS|GO:0007417|GOA|8872459
GO: cellular component|nucleus|IEA|GO:0005634|GOA|na
GO: biological process|regulation of transcription, DNA-dependent|IEA|GO:0006355|GOA|na
GO: molecular function|transcription factor activity|TAS|GO:0003700|GOA|8872459
GO: biological process|transcription from Pol II promoter|TAS|GO:0006366|GOA|8872459
>>475
LOCUSID: 475
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004045|29826339|na
NP: NP_004036|4757804
CDD: cd00371: Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones|16563|91|na|3.904420e+01
PRODUCT: antioxidant protein 1
ASSEMBLY: AY165037,BU172675
CONTIG: NT_029289.10|37550092|na|12285320|12301276|-|5|reference
EVID: supported by alignment with mRNA
XM: NM_004045|29826339|na
XP: NP_004036|4757804|na
ACCNUM: AY165037|26892111|na|na|na
TYPE: g
PROT: AAN84554|26892112|1
ACCNUM: AK091843|21750311|na|na|na
TYPE: m
ACCNUM: BU172675|22686659|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O00244|7531045|0
OFFICIAL_SYMBOL: ATOX1
OFFICIAL_GENE_NAME: ATX1 antioxidant protein 1 homolog (yeast)
ALIAS_SYMBOL: ATX1
ALIAS_SYMBOL: HAH1
PREFERRED_PRODUCT: antioxidant protein 1
SUMMARY: Summary: This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome.
CHR: 5
STS: WI-18405|5|40372|na|na|epcr
STS: PMC150598P1|-|271063|na|na|epcr
COMP: 2984|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A475[id]+AND+gene[obj_type]&QSTR=atox1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: metal transport protein
ALIAS_PROT: copper transport protein
ALIAS_PROT: ATX1 (antioxidant protein 1, yeast) homolog 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279910
UNIGENE: Hs.279910
OMIM: 602270
MAP: 5q32|RefSeq|C|
MAPLINK: default_human_gene|ATOX1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=475
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=475[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6381307
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004045
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004045
PMID: 14709553,14702039,12763797,12686548,12679332,12594858,12420134,12029094,10982193,10966647,10557326,9430722,9083055
GO: molecular function|chaperone activity|IEA|GO:0003754|GOA|na
GO: molecular function|copper ion binding|TAS|GO:0005507|GOA|9430722
GO: biological process|copper ion homeostasis|TAS|GO:0006878|GOA|9430722
GO: biological process|copper ion transport|TAS|GO:0006825|GOA|9430722
GO: molecular function|copper ion transporter activity|IEA|GO:0005375|GOA|na
GO: biological process|ion transport|IEA|GO:0006811|GOA|na
GO: molecular function|metal ion binding|IEA|GO:0046872|GOA|na
GO: biological process|metal ion transport|IEA|GO:0030001|GOA|na
GO: biological process|response to oxidative stress|TAS|GO:0006979|GOA|9430722
>>476
LOCUSID: 476
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000701|48762680|na
NP: NP_000692|21361181
CDD: pfam00122: E1-E2 ATPase|15125|577|na|2.261430e+02
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|142|na|5.921570e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|270|na|1.079830e+02
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|385|na|1.523120e+02
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1563|na|6.062180e+02
PRODUCT: Na+/K+ -ATPase alpha 1 subunit isoform a proprotein
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform a.
ASSEMBLY: AL531892,BC003077,BC050359
NM: NM_001001586|48762681|na
NP: NP_001001586|48762682
CDD: pfam00122: E1-E2 ATPase|15125|585|na|2.292250e+02
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|92|na|3.995570e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|272|na|1.087540e+02
PRODUCT: Na+/K+ -ATPase alpha 1 subunit isoform b proprotein
TRANSVAR: Transcript Variant: This variant (2) lacks a segment in the coding region, which leads to a frameshift, compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
ASSEMBLY: BC003077,BC050359,BF795089,U16798
CONTIG: NT_004754.15|37549274|na|831467|862981|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_000701|48762680|na
XP: NP_000692|21361181|na
ACCNUM: L76938|1226160|na|na|na
TYPE: g
PROT: AAA92713|1226161|1
ACCNUM: M27572|179228|na|na|na
TYPE: g
PROT: AAA35573|179231|1
ACCNUM: AL531892|45706830|na|na|na
TYPE: m
ACCNUM: BC001330|12654964|na|na|na
TYPE: m
PROT: AAH01330|12654965|1
ACCNUM: BC003077|33872616|na|na|na
TYPE: m
PROT: AAH03077|13111778|1
ACCNUM: BC050359|29791448|na|na|na
TYPE: m
PROT: AAH50359|29791449|1
ACCNUM: BF795089|12100143|na|na|na
TYPE: m
ACCNUM: J03007|179211|na|na|na
TYPE: m
PROT: AAA51803|179212|1
ACCNUM: U16798|806751|na|na|na
TYPE: m
PROT: AAC50131|806752|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05023|114374|0
OFFICIAL_SYMBOL: ATP1A1
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, alpha 1 polypeptide
ALIAS_SYMBOL: MGC3285
ALIAS_SYMBOL: MGC51750
PREFERRED_PRODUCT: Na+/K+ -ATPase alpha 1 subunit isoform a proprotein
PREFERRED_PRODUCT: Na+/K+ -ATPase alpha 1 subunit isoform b proprotein
SUMMARY: Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified.
CHR: 1
STS: RH17421|1|18307|na|seq_map|epcr
STS: A001Z44|1|66284|na|seq_map|epcr
COMP: 564|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A476[id]+AND+gene[obj_type]&QSTR=atp1a1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: sodium pump 1
ALIAS_PROT: Na+/K+ ATPase 1
ALIAS_PROT: Na, K-ATPase, alpha-A catalytic polypeptide
ALIAS_PROT: sodium-potassium-ATPase, alpha 1 polypeptide
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=371889
UNIGENE: Hs.371889
OMIM: 182310
ECNUM: 3.6.3.9
MAP: 1p21|RefSeq|C|
MAPLINK: default_human_gene|ATP1A1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=476
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=476[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119711
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000701
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000701
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+476
PMID: 14555664,14522987,12788896,12671055,12477932,12461183,11926353,11509477,11404365,8082931,7536695,3036582,3035563,3030810,2891135,2887455,2842249,2430951,2158121,1975705
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|ATP hydrolysis coupled proton transport|ISS|GO:0015991|GOA|na
GO: biological process|hydrogen ion homeostasis|ISS|GO:0030641|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|1975705
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|monovalent inorganic cation transporter activity|IEA|GO:0015077|GOA|na
GO: biological process|potassium ion transport|ISS|GO:0006813|GOA|na
GO: biological process|sodium ion transport|ISS|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|ISS|GO:0005391|GOA|na
GO: cellular component|sodium:potassium-exchanging ATPase complex|ISS|GO:0005890|GOA|na
GO: biological process|sperm motility|ISS|GO:0030317|GOA|na
>>477
LOCUSID: 477
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000702|48762683|na
NP: NP_000693|4502271
CDD: pfam00122: E1-E2 ATPase|15125|609|na|2.384700e+02
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|131|na|5.497850e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|246|na|9.873870e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|390|na|1.542380e+02
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1598|na|6.197000e+02
PRODUCT: Na+/K+ -ATPase alpha 2 subunit proprotein
ASSEMBLY: AK124581,BC013680,BC047533,BC052271
CONTIG: NT_079484.1|37549803|na|6535380|6563287|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_000702|48762683|na
XP: NP_000693|4502271|na
ACCNUM: J05096|179164|na|na|na
TYPE: g
PROT: AAA51797|179165|1
ACCNUM: M27578|179237|na|na|na
TYPE: g
PROT: AAA35575|179239|1
ACCNUM: AB018321|20521651|na|na|na
TYPE: m
PROT: BAA34498|20521652|2
ACCNUM: AK091617|21750031|na|na|na
TYPE: m
ACCNUM: AK124581|34530404|na|na|na
TYPE: m
ACCNUM: AK126573|34533104|na|na|na
TYPE: m
ACCNUM: AL831991|21732530|na|na|na
TYPE: m
ACCNUM: AL831997|21732536|na|na|na
TYPE: m
ACCNUM: BC013680|16975538|na|na|na
TYPE: m
ACCNUM: BC047533|29126785|na|na|na
TYPE: m
ACCNUM: BC052271|30354533|na|na|na
TYPE: m
PROT: AAH52271|37589105|2
ACCNUM: M16795|179196|na|na|na
TYPE: m
PROT: AAA51799|553194|1
ACCNUM: Y07494|297465|na|na|na
TYPE: m
PROT: CAA68793|297466|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P50993|1703467|0
OFFICIAL_SYMBOL: ATP1A2
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
ALIAS_SYMBOL: FHM2
ALIAS_SYMBOL: MHP2
ALIAS_SYMBOL: MGC59864
PREFERRED_PRODUCT: Na+/K+ -ATPase alpha 2 subunit proprotein
SUMMARY: Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit.
CHR: 1
STS: WI-21610|1|14294|na|seq_map|epcr
STS: SHGC-31641|1|30353|na|seq_map|epcr
STS: RH69645|1|64522|na|seq_map|epcr
STS: ATP1A2_1794|-|280454|na|na|epcr
COMP: 20180|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A477[id]+AND+gene[obj_type]&QSTR=atp1a2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: sodium pump 2
ALIAS_PROT: Na+/K+ ATPase 2
ALIAS_PROT: migraine, hemiplegic 2
ALIAS_PROT: sodium-potassium ATPase
ALIAS_PROT: Na+/K+ ATPase, alpha-B polypeptide
ALIAS_PROT: Na+/K+ ATPase, alpha-A(+) catalytic polypeptide
ALIAS_PROT: sodium/potassium-transporting ATPase alpha-2 chain
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=34114
UNIGENE: Hs.34114
OMIM: 182340
ECNUM: 3.6.3.9
MAP: 1q21-q23|HUGO|C|
MAPLINK: default_human_gene|ATP1A2
PHENOTYPE: Migraine, familial hemiplegic, 2
PHENOTYPE_ID: 602481
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=477
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=477[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119712
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000702
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000702
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=182340
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+477
PMID: 15210532,15174025,14871878,14702039,12953268,12539047,12529322,12496141,12477932,11404365,10372716,9872452,9403481,3036582,3035563,2842249,2537767,2477373,2158121
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|ATP hydrolysis coupled proton transport|ISS|GO:0015991|GOA|na
GO: biological process|hydrogen ion homeostasis|ISS|GO:0030641|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|monovalent inorganic cation transporter activity|IEA|GO:0015077|GOA|na
GO: biological process|potassium ion transport|ISS|GO:0006813|GOA|na
GO: biological process|sodium ion transport|ISS|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|ISS|GO:0005391|GOA|na
GO: cellular component|sodium:potassium-exchanging ATPase complex|ISS|GO:0005890|GOA|na
GO: biological process|sperm motility|ISS|GO:0030317|GOA|na
>>478
LOCUSID: 478
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_152296|49249971|na
NP: NP_689509|22748667
CDD: pfam00122: E1-E2 ATPase|15125|619|na|2.423220e+02
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|137|na|5.728970e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|277|na|1.106800e+02
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|398|na|1.573200e+02
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1596|na|6.189300e+02
PRODUCT: Na+/K+ -ATPase alpha 3 subunit
ASSEMBLY: AK054736,BC015566,BX478337,CB156520
CONTIG: NT_011109.15|29800594|na|14738952|14766562|-|19|reference
EVID: supported by alignment with mRNA
XM: NM_152296|49249971|na
XP: NP_689509|22748667|na
ACCNUM: M27577|179200|na|na|na
TYPE: g
PROT: AAA58380|179202|1
ACCNUM: M28286|179215|na|na|na
TYPE: g
PROT: AAA52285|179226|1
ACCNUM: M28293|179224|na|na|na
TYPE: g
PROT: AAA52286|179227|1
ACCNUM: M37457|179190|na|na|na
TYPE: g
PROT: AAA51798|497763|1
ACCNUM: X12910|28963|na|na|na
TYPE: g
PROT: CAA31390|1359715|1
ACCNUM: AK054736|16549340|na|na|na
TYPE: m
ACCNUM: AK094628|21753724|na|na|na
TYPE: m
ACCNUM: AK122693|34527883|na|na|na
TYPE: m
ACCNUM: AL832884|21733469|na|na|na
TYPE: m
ACCNUM: BC009282|33874449|na|na|na
TYPE: m
PROT: AAH09282|14424520|1
ACCNUM: BC009394|33874477|na|na|na
TYPE: m
PROT: AAH09394|14424767|1
ACCNUM: BC013763|15489327|na|na|na
TYPE: m
ACCNUM: BC015566|33871653|na|na|na
TYPE: m
PROT: AAH15566|15990410|1
ACCNUM: BX478337|31913056|na|na|na
TYPE: m
ACCNUM: CB156520|28141648|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P13637|29839750|0
OFFICIAL_SYMBOL: ATP1A3
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, alpha 3 polypeptide
ALIAS_SYMBOL: MGC13276
PREFERRED_PRODUCT: Na+/K+ -ATPase alpha 3 subunit
SUMMARY: Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit.
CHR: 19
STS: hsatpn22|19|29942|na|seq_map|epcr
STS: RH78939|-|80699|na|na|epcr
COMP: 565|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A478[id]+AND+gene[obj_type]&QSTR=atp1a3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: alpha(III)
ALIAS_PROT: sodium pump 3
ALIAS_PROT: Na+/K+ ATPase 3
ALIAS_PROT: sodium-potassium-ATPase, alpha 3 polypeptide
ALIAS_PROT: sodium/potassium-transporting ATPase alpha-3 chain
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380447
UNIGENE: Hs.380447
OMIM: 182350
ECNUM: 3.6.3.9
MAP: 19q13.31|RefSeq|C|
MAPLINK: default_human_gene|ATP1A3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=478
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=478[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119713
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_152296
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_152296
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+478
PMID: 14702039,12634653,12477932,3036582,3035563,3030810,2907504,2887455,2842249,2838329,2158121
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|ATP hydrolysis coupled proton transport|ISS|GO:0015991|GOA|na
GO: biological process|hydrogen ion homeostasis|ISS|GO:0030641|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|monovalent inorganic cation transporter activity|IEA|GO:0015077|GOA|na
GO: biological process|potassium ion transport|ISS|GO:0006813|GOA|na
GO: biological process|sodium ion transport|ISS|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|ISS|GO:0005391|GOA|na
GO: cellular component|sodium:potassium-exchanging ATPase complex|ISS|GO:0005890|GOA|na
GO: biological process|sperm motility|ISS|GO:0030317|GOA|na
GO: biological process|transport|TAS|GO:0006810|GOA|2838329
>>479
LOCUSID: 479
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_001676|10280617|na
NP: NP_001667|10280618
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|235|na|9.450150e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|23071|312|na|1.241930e+02
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1546|na|5.996700e+02
CDD: KOG0203: Na+/K+ ATPase, alpha subunit [Inorganic ion transport and metabolism]|17999|4071|na|1.572150e+03
PRODUCT: ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ASSEMBLY: AH006464
CONTIG: NT_024524.13|37546841|na|6234695|6265917|+|13|reference
EVID: supported by alignment with mRNA
XM: NM_001676|10280617|na
XP: NP_001667|10280618|na
ACCNUM: L42558|10048398|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42559|1236999|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42560|1237003|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42561|1237004|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42562|1237006|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42563|1237008|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42565|1237000|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42566|1237001|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42567|1237002|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42568|1237005|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: L42569|1237007|na|na|na
TYPE: g
PROT: AAC37589|10048399|2
ACCNUM: M27574|179240|na|na|na
TYPE: g
PROT: AAA35576|179241|1
ACCNUM: X69823|28922|na|na|na
TYPE: g
PROT: CAA49477|28923|1
ACCNUM: X69824|28924|na|na|na
TYPE: g
PROT: CAA49478|1340155|1
ACCNUM: BC031609|21618763|na|na|na
TYPE: m
PROT: AAH31609|21618764|1
ACCNUM: M16797|179209|na|na|na
TYPE: m
PROT: AAA51802|179210|1
ACCNUM: U02076|493015|na|na|na
TYPE: m
PROT: AAB37755|404017|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P54707|20141250|0
OFFICIAL_SYMBOL: ATP12A
OFFICIAL_GENE_NAME: ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ALIAS_SYMBOL: ATP1AL1
PREFERRED_PRODUCT: ATPase, H+/K+ transporting, nongastric, alpha polypeptide
CHR: 13
STS: SHGC-12920|13|37082|na|seq_map|epcr
ALIAS_PROT: ATPase, Na+K+ transporting, alpha-1 polypeptide-like
ALIAS_PROT: ATPase, Na+/K+ transporting, alpha polypeptide-like 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147111
UNIGENE: Hs.147111
OMIM: 182360
ECNUM: 3.6.1.36
MAP: 13q11-q12.1|HUGO|C|13q12.1-q12.3|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182360">OMIM</a>|C|
MAPLINK: default_human_gene|ATP12A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=479
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=479[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119714
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001676
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001676
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+479
PMID: 12477932,12230809,12110518,11880279,8838794,8045293,3035563,2842249
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|hydrogen:potassium-exchanging ATPase activity|IEA|GO:0008900|GOA|na
GO: cellular component|hydrogen:potassium-exchanging ATPase complex|TAS|GO:0005889|GOA|8838794
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|potassium ion transport|IEA|GO:0006813|GOA|na
GO: biological process|proton transport|IEA|GO:0015992|GOA|na
>>480
LOCUSID: 480
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001001734|49249976|na
NP: NP_001001734|49249977
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|277|na|1.107110e+02
PRODUCT: Na+/K+ -ATPase alpha 4 subunit isoform 2
TRANSVAR: Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2), which has not been experimentally confirmed, has a shorter N-terminus when compared to isoform 1.
ASSEMBLY: BC028297
NM: NM_144699|49249974|na
NP: NP_653300|37577153
CDD: pfam00122: E1-E2 ATPase|15125|584|na|2.288400e+02
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|137|na|5.728970e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|200|na|8.101950e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|378|na|1.496160e+02
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1445|na|5.607650e+02
PRODUCT: Na+/K+ -ATPase alpha 4 subunit isoform 1
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
ASSEMBLY: AF506797,BC036052,BX647234
CONTIG: NT_079484.1|37549803|na|6571192|6606599|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_144699|49249974|na
XP: NP_653300|37577153|na
ACCNUM: AF310646|17033858|na|na|na
TYPE: g
PROT: AAK72396|17149816|2
ACCNUM: AF352828|20377496|na|na|na
TYPE: g
PROT: AAM20793|20377497|1
ACCNUM: AF390027|17062080|na|na|na
TYPE: g
PROT: AAK72396|17149816|2
ACCNUM: AF421887|17148770|na|na|na
TYPE: g
PROT: AAL35818|17148771|1
ACCNUM: AF430843|16612114|na|na|na
TYPE: g
PROT: AAK72396|17149816|2
ACCNUM: AY039031|17046931|na|na|na
TYPE: g
PROT: AAK72396|17149816|2
ACCNUM: U15286|624049|na|na|na
TYPE: g
PROT: AAA60941|624051|1
ACCNUM: AF459737|18252615|na|na|na
TYPE: m
PROT: AAL66357|18252616|1
ACCNUM: AF506797|33324436|na|na|na
TYPE: m
PROT: AAQ07964|33324437|1
ACCNUM: AK098076|21758010|na|na|na
TYPE: m
PROT: BAC05228|21758011|1
ACCNUM: AL833335|21733970|na|na|na
TYPE: m
ACCNUM: BC028297|20271463|na|na|na
TYPE: m
PROT: AAH28297|20271464|1
ACCNUM: BC036052|23958520|na|na|na
TYPE: m
ACCNUM: BC068570|46250027|na|na|na
TYPE: m
ACCNUM: BX647234|34366262|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q13733|23830899|0
OFFICIAL_SYMBOL: ATP1A4
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, alpha 4 polypeptide
ALIAS_SYMBOL: ATP1AL2
ALIAS_SYMBOL: MGC25056
PREFERRED_PRODUCT: Na+/K+ -ATPase alpha 4 subunit isoform 1
PREFERRED_PRODUCT: Na+/K+ -ATPase alpha 4 subunit isoform 2
SUMMARY: Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified.
CHR: 1
COMP: 11278|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A480[id]+AND+gene[obj_type]&QSTR=atp1a4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: sodium pump 4
ALIAS_PROT: Na+/K+ ATPase 4
ALIAS_PROT: Na+/K+ ATPase, alpha-D polypeptide
ALIAS_PROT: sodium/potassium-transporting ATPase alpha-4 chain
ALIAS_PROT: ATPase, Na+/K+ transporting, alpha polypeptide-like 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=367953
UNIGENE: Hs.367953
OMIM: 607321
ECNUM: 3.6.3.9
MAP: 1q21-q23|HUGO|C|
MAPLINK: default_human_gene|ATP1A4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=480
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=480[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:128292
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_144699
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_144699
PMID: 14702039,12477932,12119109,12112599,10227850,7809153,3036582,3035563,2887455,2158121,1981991
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|ATP hydrolysis coupled proton transport|TAS|GO:0015991|GOA|7809153
GO: biological process|hydrogen ion homeostasis|IDA|GO:0030641|GOA|12112599
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: molecular function|monovalent inorganic cation transporter activity|IEA|GO:0015077|GOA|na
GO: biological process|potassium ion transport|TAS|GO:0006813|GOA|7809153
GO: biological process|sodium ion transport|TAS|GO:0006814|GOA|7809153
GO: molecular function|sodium:potassium-exchanging ATPase activity|IDA|GO:0005391|GOA|7809153
GO: cellular component|sodium:potassium-exchanging ATPase complex|TAS|GO:0005890|GOA|7809153
GO: biological process|sperm motility|IDA|GO:0030317|GOA|12112599
>>481
LOCUSID: 481
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001001787|49574488|na
NP: NP_001001787|49574489
CDD: pfam00287: Sodium / potassium ATPase beta chain|7546|1007|na|3.919640e+02
PRODUCT: Na+/K+ -ATPase beta 1 subunit isoform b
TRANSVAR: Transcript Variant: This variant (2) lacks a segment in the coding region, which leads to a frameshift, compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
ASSEMBLY: AA514770,BC000006,BE223067,BQ934151,U16799
NM: NM_001677|49574487|na
NP: NP_001668|4502277
CDD: pfam00287: Sodium / potassium ATPase beta chain|7546|1009|na|3.927340e+02
PRODUCT: Na+/K+ -ATPase beta 1 subunit isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
ASSEMBLY: AA514770,BC000006,BE223067,BM762099,BQ934151,CD722755,U16799
CONTIG: NT_004668.16|37548668|na|7581454|7607429|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_001677|49574487|na
XP: NP_001668|4502277|na
ACCNUM: M25160|189059|na|na|na
TYPE: g
PROT: AAA36352|386974|1
ACCNUM: AA514770|2254370|na|na|na
TYPE: m
ACCNUM: BC000006|33875088|na|na|na
TYPE: m
PROT: AAH00006|12652535|1
ACCNUM: BE223067|8910385|na|na|na
TYPE: m
ACCNUM: BM762099|19091714|na|na|na
TYPE: m
ACCNUM: BQ934151|22349534|na|na|na
TYPE: m
ACCNUM: BT009787|32879916|na|na|na
TYPE: m
PROT: AAP88789|32879917|1
ACCNUM: CD722755|32273603|na|na|na
TYPE: m
ACCNUM: CR407616|47115168|na|na|na
TYPE: m
PROT: CAG28544|47115169|1
ACCNUM: U16799|806753|na|na|na
TYPE: m
PROT: AAC50132|806754|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P05026|114392|0
OFFICIAL_SYMBOL: ATP1B1
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, beta 1 polypeptide
ALIAS_SYMBOL: ATP1B
ALIAS_SYMBOL: MGC1798
PREFERRED_PRODUCT: Na+/K+ -ATPase beta 1 subunit isoform a
PREFERRED_PRODUCT: Na+/K+ -ATPase beta 1 subunit isoform b
SUMMARY: Summary: The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified.
CHR: 1
STS: GDB:193196|-|155746|na|na|epcr
STS: GDB:451712|-|157352|na|na|epcr
ALIAS_PROT: Na, K-ATPase beta-1 polypeptide
ALIAS_PROT: sodium/potassium-dependent ATPase beta-1 subunit
ALIAS_PROT: sodium/potassium-transporting ATPase beta-1 chain
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78629
UNIGENE: Hs.78629
OMIM: 182330
ECNUM: 3.6.3.9
MAP: 1q24|RefSeq|C|
MAPLINK: default_human_gene|ATP1B1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=481
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=481[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:120557
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001677
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001677
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+481
PMID: 12477932,7536695,3008098,2887455,2842249,2559024,2555225,2538450,2158121,1301170
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|potassium ion transport|IEA|GO:0006813|GOA|na
GO: biological process|sodium ion transport|IEA|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|TAS|GO:0005391|GOA|2559024
GO: cellular component|sodium:potassium-exchanging ATPase complex|TAS|GO:0005890|GOA|2559024
GO: biological process|transport|TAS|GO:0006810|GOA|2559024
>>482
LOCUSID: 482
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001678|49574490|na
NP: NP_001669|49574491
CDD: pfam00287: Sodium / potassium ATPase beta chain|7546|1150|na|4.470470e+02
PRODUCT: Na+/K+ -ATPase beta 2 subunit
ASSEMBLY: AL120033,AL532023,BC035801,BG708115,BM664502,BM703745,BM925700,BQ718053,CD671350,U45945
CONTIG: NT_010718.14|37543500|na|6395436|6401709|+|17|reference
EVID: supported by alignment with mRNA
XM: NM_001678|49574490|na
XP: NP_001669|49574491|na
ACCNUM: AF007876|3025476|na|na|na
TYPE: g
PROT: AAC39686|3025477|1
ACCNUM: AL120033|5925932|na|na|na
TYPE: m
ACCNUM: AL532023|45706959|na|na|na
TYPE: m
ACCNUM: BC035801|23958686|na|na|na
TYPE: m
ACCNUM: BG708115|13985139|na|na|na
TYPE: m
ACCNUM: BM664502|18970663|na|na|na
TYPE: m
ACCNUM: BM703745|19017003|na|na|na
TYPE: m
ACCNUM: BM925700|19376079|na|na|na
TYPE: m
ACCNUM: BQ718053|21856950|na|na|na
TYPE: m
ACCNUM: CD671350|32173081|na|na|na
TYPE: m
ACCNUM: D87330|1536869|na|na|na
TYPE: m
ACCNUM: M81181|291869|na|na|na
TYPE: m
PROT: AAA51805|179245|1
ACCNUM: U45945|1314362|na|na|na
TYPE: m
PROT: AAC50873|1314363|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P14415|114398|0
OFFICIAL_SYMBOL: ATP1B2
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, beta 2 polypeptide
ALIAS_SYMBOL: AMOG
PREFERRED_PRODUCT: Na+/K+ -ATPase beta 2 subunit
SUMMARY: Summary: The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit.
CHR: 17
STS: G15933|17|18324|na|seq_map|epcr
STS: SGC31498|17|37431|na|seq_map|epcr
STS: RH11458|17|48365|na|seq_map|epcr
COMP: 36075|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A482[id]+AND+gene[obj_type]&QSTR=atp1b2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: adhesion molecule on glia
ALIAS_PROT: Na, K-ATPase beta-2 polypeptide
ALIAS_PROT: sodium/potassium-dependent ATPase beta-2 subunit
ALIAS_PROT: sodium/potassium-transporting ATPase beta-2 chain
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78854
UNIGENE: Hs.78854
OMIM: 182331
ECNUM: 3.6.3.9
MAP: 17p13.1|RefSeq|C|
MAPLINK: default_human_gene|ATP1B2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=482
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=482[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118756
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001678
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001678
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+482
PMID: 12477932,10662545,9524271,8918259,8889548,8305453,2538450,2158121,1699290,1688561
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|potassium ion transport|IEA|GO:0006813|GOA|na
GO: biological process|sodium ion transport|IEA|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|TAS|GO:0005391|GOA|2538450
GO: biological process|transport|TAS|GO:0006810|GOA|2538450
>>483
LOCUSID: 483
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001679|49574492|na
NP: NP_001670|4502281
CDD: pfam00287: Sodium / potassium ATPase beta chain|7546|841|na|3.280210e+02
PRODUCT: Na+/K+ -ATPase beta 3 subunit
ASSEMBLY: AH005449,AK131061,BI462090,U51478
CONTIG: NT_005612.14|37550867|na|48090798|48140536|+|3|reference
EVID: supported by alignment with mRNA
XM: NM_001679|49574492|na
XP: NP_001670|4502281|na
ACCNUM: AF005896|2209244|na|na|na
TYPE: g
PROT: AAB61713|2224939|1
ACCNUM: AK094673|21753779|na|na|na
TYPE: m
ACCNUM: AK131061|34528314|na|na|na
TYPE: m
ACCNUM: BC001469|33876252|na|na|na
TYPE: m
ACCNUM: BC011835|33877708|na|na|na
TYPE: m
PROT: AAH11835|15080119|1
ACCNUM: BI462090|15252746|na|na|na
TYPE: m
ACCNUM: U51478|1522634|na|na|na
TYPE: m
PROT: AAC50665|1256802|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P54709|1703470|0
OFFICIAL_SYMBOL: ATP1B3
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, beta 3 polypeptide
ALIAS_SYMBOL: ATPB-3
ALIAS_SYMBOL: FLJ29027
PREFERRED_PRODUCT: Na+/K+ -ATPase beta 3 subunit
SUMMARY: Summary: The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2.
CHR: 3
STS: SHGC-16162|3|13732|na|seq_map|epcr
STS: RH66571|3|54451|na|seq_map|epcr
STS: RH12662|2|87279|na|seq_map|epcr
STS: RH66869|-|91696|na|na|epcr
STS: G32213|-|116820|na|na|epcr
STS: ATP1B3_1858|-|280455|na|na|epcr
COMP: 567|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A483[id]+AND+gene[obj_type]&QSTR=atp1b3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: Na, K-ATPase beta-3 polypeptide
ALIAS_PROT: sodium/potassium-dependent ATPase beta-3 subunit
ALIAS_PROT: sodium/potassium-transporting ATPase beta-3 chain
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76941
UNIGENE: Hs.76941
OMIM: 601867
ECNUM: 3.6.3.9
MAP: 3q23|RefSeq|C|
MAPLINK: default_human_gene|ATP1B3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=483
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=483[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6275878
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001679
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001679
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+483
PMID: 14702039,12477932,12456588,9457675,8798450,2158121
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|potassium ion transport|IEA|GO:0006813|GOA|na
GO: biological process|sodium ion transport|IEA|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|TAS|GO:0005391|GOA|8798450
GO: cellular component|sodium:potassium-exchanging ATPase complex|TAS|GO:0005890|GOA|8798450
GO: biological process|transport|TAS|GO:0006810|GOA|8798450
>>484
LOCUSID: 484
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_000849|24046334|na|1|2014
CONTIG: NT_022184.13|37547123|na|39777128|39779141|-|2|na
EVID: alignment with NG_000849
XG: NG_000849|24046334|na
ACCNUM: AF005898|2209237|na|na|na
TYPE: g
PROT: AAB61675|2218164|1
OFFICIAL_SYMBOL: ATP1B3P1
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, beta 3 pseudogene
CHR: 2
STS: SHGC-16162|-|13732|na|na|epcr
STS: RH66571|-|54451|na|na|epcr
STS: RH12662|-|87279|na|na|epcr
STS: RH66869|-|91696|na|na|epcr
STS: G32213|-|116820|na|na|epcr
ALIAS_PROT: ATPase, Na+/K+ transporting, beta 3 pseudogene 1
MAP: 2p15-p13|RefSeq|C|
MAPLINK: default_human_gene|ATP1B3P1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=484
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6383265
PMID: 9457675
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: biological process|potassium ion transport|IEA|GO:0006813|GOA|na
GO: biological process|sodium ion transport|IEA|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|IEA|GO:0005391|GOA|na
>>485
LOCUSID: 485
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NG: NG_001081|20270464|na|1|3371
CONTIG: NT_006238.10|29791548|na|1733192|1735242|+|4|na
EVID: alignment with NG_001081
XG: NG_001081|20270464|na
ACCNUM: M25159|189062|na|na|na
TYPE: g
OFFICIAL_SYMBOL: ATP1BL1
OFFICIAL_GENE_NAME: ATPase, Na+/K+ transporting, beta polypeptide-like 1
CHR: 4
ALIAS_PROT: ATPase, Na+K+ transporting, beta-1 polypeptide-like
OMIM: 182370
MAP: 4p15-q13|HUGO|C|
MAPLINK: default_human_gene|ATP1BL1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=485
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119715
PMID: 2842249,2559024
>>486
LOCUSID: 486
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001680|27754767|na
NP: NP_001671|11125766
CDD: pfam02038: ATP1G1/PLM/MAT8 family|8196|212|na|8.570760e+01
PRODUCT: FXYD domain-containing ion transport regulator 2 isoform 1
TRANSVAR: Transcript Variant: This variant (a) encodes the longer isoform (1).
ASSEMBLY: AF241236
NM: NM_021603|27754766|na
NP: NP_067614|11125764
CDD: pfam02038: ATP1G1/PLM/MAT8 family|8196|214|na|8.647800e+01
PRODUCT: FXYD domain-containing ion transport regulator 2 isoform 2
TRANSVAR: Transcript Variant: This variant (b) contains an alternate exon in the 5' UTR and 5' coding region and thus uses an alternate start codon, compared to variant a. Isoform 2 has a shorter, distinct N-terminus, compared to isoform 1.
ASSEMBLY: AF316896,BC005302
CONTIG: NT_033899.6|37540935|na|21234577|21242594|-|11|reference
EVID: supported by alignment with mRNA
XM: NM_001680|27754767|na
XP: NP_001671|11125766|na
EVID: supported by alignment with mRNA
XM: NM_021603|27754766|na
XP: NP_067614|11125764|na
ACCNUM: AF241235|11342646|na|na|na
TYPE: g
PROT: AAG34359|11342647|1
PROT: AAG34360|11342648|1
ACCNUM: AF316896|11545662|na|na|na
TYPE: g
PROT: AAG37906|11545663|1
PROT: AAG37907|11545664|1
ACCNUM: AF241236|11342649|na|na|na
TYPE: m
PROT: AAG34361|11342650|1
ACCNUM: AK096069|21755468|na|na|na
TYPE: m
PROT: BAC04693|21755469|1
ACCNUM: BC005302|13529031|na|na|na
TYPE: m
PROT: AAH05302|13529032|1
ACCNUM: BC013289|15342033|na|na|na
TYPE: m
PROT: AAH13289|15342034|1
ACCNUM: U50743|1575003|na|na|na
TYPE: m
PROT: AAB09425|1575004|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P54710|20141251|0
PROT: Q15332|6225098|0
OFFICIAL_SYMBOL: FXYD2
OFFICIAL_GENE_NAME: FXYD domain containing ion transport regulator 2
ALIAS_SYMBOL: HOMG2
ALIAS_SYMBOL: ATP1G1
ALIAS_SYMBOL: MGC12372
PREFERRED_PRODUCT: FXYD domain-containing ion transport regulator 2 isoform 1
PREFERRED_PRODUCT: FXYD domain-containing ion transport regulator 2 isoform 2
SUMMARY: Summary: This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The Type III integral membrane protein encoded by this gene is the gamma subunit of the Na,K-ATPase present on the plasma membrane. Although the Na,K-ATPase does not depend on the gamma subunit to be functional, it is thought that the gamma subunit modulates the enzyme's activity by inducing ion channel activity. Mutations in this gene have been associated with renal hypomagnesaemia.
CHR: 11
STS: D11S1998|-|13280|D11S1998|na|epcr
STS: RH47007|11|62045|na|seq_map|epcr
STS: SHGC-132239|-|170724|na|na|epcr
COMP: 1269|11|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=11&MAPS=genes-r-org/rat-chr/human%3A11,genes-r-org/mouse-chr/human%3A11,genes-r-org/human-chr11&query=e%3A486[id]+AND+gene[obj_type]&QSTR=fxyd2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: hypomagnesemia 2, renal
ALIAS_PROT: Sodium-potassium-ATPase, gamma polypeptide
ALIAS_PROT: ATPase, Na+/K+ transporting, gamma 1 polypeptide
ALIAS_PROT: FXYD domain-containing ion transport regulator 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=413137
UNIGENE: Hs.413137
OMIM: 601814
MAP: 11q23|RefSeq|C|
MAPLINK: default_human_gene|FXYD2
PHENOTYPE: Hypomagnesemia-2, renal
PHENOTYPE_ID: 154020
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=486
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=486[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:9956484
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:6185974
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/6185974.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021603
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021603
DB_DESCR: PharmGKB: PA28442
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28442
PMID: 14702039,12907667,12477932,11112438,11062458,10950925,10559186,9915957,9600999,9463334,9405479,9048881,7916648,7566098
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|ion channel activity|IEA|GO:0005216|GOA|na
GO: molecular function|ion channel activity|NAS|GO:0005216|GOA|na
GO: biological process|ion transport|IEA|GO:0006811|GOA|na
GO: biological process|ion transport|NAS|GO:0006811|GOA|na
GO: cellular component|membrane|IEA|GO:0016020|GOA|na
GO: biological process|potassium ion transport|IEA|GO:0006813|GOA|na
GO: biological process|sodium ion transport|IEA|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|TAS|GO:0005391|GOA|9048881
GO: cellular component|sodium:potassium-exchanging ATPase complex|NAS|GO:0005890|GOA|na
GO: molecular function|transporter activity|TAS|GO:0005215|GOA|9048881
>>487
LOCUSID: 487
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_004320|47132614|na
NP: NP_004311|10835220
CDD: pfam00122: E1-E2 ATPase|15125|614|na|2.403960e+02
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|152|na|6.306770e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|244|na|9.796830e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|440|na|1.734980e+02
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1670|na|6.474350e+02
PRODUCT: ATPase, Ca++ transporting, fast twitch 1 isoform b
TRANSVAR: Transcript Variant: This variant (b) represents the longer transcript but encodes the shorter isoform of this protein.
ASSEMBLY: AK128456,BX537784,BX647367
NM: NM_173201|47132613|na
NP: NP_775293|27886529
CDD: pfam00122: E1-E2 ATPase|15125|616|na|2.411660e+02
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|152|na|6.306770e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|244|na|9.796830e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|442|na|1.742690e+02
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1674|na|6.489760e+02
PRODUCT: ATPase, Ca++ transporting, fast twitch 1 isoform a
TRANSVAR: Transcript Variant: This variant (a) lacks an exon in the 3' coding region resulting in a frameshift and use of a downstream termination codon, compared to variant b. Isoform a has a longer and distinct C-terminus, compared to isoform b.
ASSEMBLY: AK128456,BU737186,BX537784,BX647367
CONTIG: NT_024812.10|29809804|na|291133|317031|+|16|reference
EVID: supported by alignment with mRNA
XM: NM_004320|47132614|na
XP: NP_004311|10835220|na
EVID: supported by alignment with mRNA
XM: NM_173201|47132613|na
XP: NP_775293|27886529|na
ACCNUM: U96773|2052511|na|na|na
TYPE: g
PROT: AAB53112|2052521|1
PROT: AAB53113|2052522|1
ACCNUM: U96781|2052519|na|na|na
TYPE: g
PROT: AAB53112|2052521|1
PROT: AAB53113|2052522|1
ACCNUM: AK092691|21751344|na|na|na
TYPE: m
ACCNUM: AK128456|34535836|na|na|na
TYPE: m
ACCNUM: BC037354|22713580|na|na|na
TYPE: m
PROT: AAH37354|22713581|1
ACCNUM: BU737186|23672663|na|na|na
TYPE: m
ACCNUM: BX537389|31873279|na|na|na
TYPE: m
PROT: CAD97631|31873280|1
ACCNUM: BX537784|31873753|na|na|na
TYPE: m
PROT: CAD97841|31873754|1
ACCNUM: BX647365|34366393|na|na|na
TYPE: m
ACCNUM: BX647366|34366394|na|na|na
TYPE: m
ACCNUM: BX647367|34366395|na|na|na
TYPE: m
ACCNUM: BX647368|34366396|na|na|na
TYPE: m
ACCNUM: BX648544|34367706|na|na|na
TYPE: m
ACCNUM: BX649072|34368244|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: O14983|12643544|0
OFFICIAL_SYMBOL: ATP2A1
OFFICIAL_GENE_NAME: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ALIAS_SYMBOL: ATP2A
ALIAS_SYMBOL: SERCA1
PREFERRED_PRODUCT: ATPase, Ca++ transporting, fast twitch 1 isoform a
PREFERRED_PRODUCT: ATPase, Ca++ transporting, fast twitch 1 isoform b
SUMMARY: Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms.
CHR: 16
COMP: 32019|16|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=16&MAPS=genes-r-org/mouse-chr/human%3A16,genes-r-org/human-chr16&query=e%3A487[id]+AND+gene[obj_type]&QSTR=atp2a1&cmd=focus&fill=10|Mouse
ALIAS_PROT: calcium pump 1
ALIAS_PROT: SR Ca(2+)-ATPase 1
ALIAS_PROT: endoplasmic reticulum class 1/2 Ca(2+) ATPase
ALIAS_PROT: sarcoplasmic/endoplasmic reticulum calcium ATPase 1
ALIAS_PROT: calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183075
UNIGENE: Hs.183075
OMIM: 108730
ECNUM: 3.6.3.8
MAP: 16p12.1|HUGO|C|
MAPLINK: default_human_gene|ATP2A1
PHENOTYPE: Brody myopathy
PHENOTYPE_ID: 601003
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=487
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=487[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119716
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119716.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004320
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004320
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+487
PMID: 14702039,14638697,12975374,12692302,12525698,9405806,8889548,8841193,8825625,2936465,2842876,1746562
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|calcium ion transport|IEA|GO:0006816|GOA|na
GO: molecular function|calcium-transporting ATPase activity|NR|GO:0005388|GOA|na
GO: molecular function|calcium-transporting ATPase activity|IEA|GO:0005388|GOA|na
GO: molecular function|catalytic activity|IEA|GO:0003824|GOA|na
GO: biological process|cation transport|IEA|GO:0006812|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|proton transport|IEA|GO:0015992|GOA|na
GO: biological process|regulation of striated muscle contraction|TAS|GO:0006942|GOA|8841193
GO: cellular component|smooth endoplasmic reticulum|TAS|GO:0005790|GOA|8841193
GO: biological process|transport|TAS|GO:0006810|GOA|8841193
>>488
LOCUSID: 488
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001681|27886536|na
NP: NP_001672|4502285
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1760|na|6.821030e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3724|na|1.438540e+03
PRODUCT: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 isoform 2
TRANSVAR: Transcript Variant: This variant (2) uses alternative splice sites in the 3' end of the coding region resulting in an early termination codon, compared to variant 1. Isoform 2 has a shorter and distinct C-terminus, compared to isoform 1.
ASSEMBLY: M23114,M23115
NM: NM_170665|27886537|na
NP: NP_733765|24638454
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1766|na|6.844140e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3727|na|1.439700e+03
PRODUCT: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 isoform 1
TRANSVAR: Transcript Variant: This variant (1) encodes the longer isoform (1) of this protein.
ASSEMBLY: BC035588,M23114
CONTIG: NT_009775.14|37544143|na|1288941|1358404|+|12|reference
EVID: supported by alignment with mRNA
XM: NM_001681|27886536|na
XP: NP_001672|4502285|na
EVID: supported by alignment with mRNA
XM: NM_170665|27886537|na
XP: NP_733765|24638454|na
ACCNUM: M23116|179735|na|na|na
TYPE: g
PROT: AAA52757|179741|1
PROT: AAA52758|567108|1
ACCNUM: M23278|179737|na|na|na
TYPE: g
PROT: AAA52758|567108|1
ACCNUM: BC035588|23272582|na|na|na
TYPE: m
PROT: AAH35588|23272583|1
ACCNUM: M23114|184100|na|na|na
TYPE: m
PROT: AAA53193|306850|1
ACCNUM: M23115|184102|na|na|na
TYPE: m
PROT: AAA53194|306851|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P16615|114312|0
OFFICIAL_SYMBOL: ATP2A2
OFFICIAL_GENE_NAME: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ALIAS_SYMBOL: DD
ALIAS_SYMBOL: DAR
ALIAS_SYMBOL: ATP2B
ALIAS_SYMBOL: SERCA2
ALIAS_SYMBOL: MGC45367
PREFERRED_PRODUCT: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 isoform 1
PREFERRED_PRODUCT: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 isoform 2
SUMMARY: Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in two transcript variants encoding different isoforms.
CHR: 12
STS: G15902|-|4216|na|na|epcr
STS: WI-18984|12|21223|na|seq_map|epcr
STS: D12S2026|12|21224|D12S2026|seq_map|epcr
STS: D12S1965|12|79568|D12S1965|seq_map|epcr
COMP: 7635|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/mouse-chr/human%3A12,genes-r-org/human-chr12&query=e%3A488[id]+AND+gene[obj_type]&QSTR=atp2a2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: calcium pump 2
ALIAS_PROT: SR Ca(2+)-ATPase 2
ALIAS_PROT: endoplasmic reticulum class 1/2 Ca(2+) ATPase
ALIAS_PROT: sarcoplasmic/endoplasmic reticulum calcium ATPase 2
ALIAS_PROT: ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2
ALIAS_PROT: calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374535
UNIGENE: Hs.374535
OMIM: 108740
ECNUM: 3.6.3.8
MAP: 12q23-q24.1|HUGO|C|
MAPLINK: default_human_gene|ATP2A2
PHENOTYPE: Acrokeratosis verruciformis
PHENOTYPE_ID: 101900
PHENOTYPE: Darier disease
PHENOTYPE_ID: 124200
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=488
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=488[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:119717
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_170665
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_170665
DB_DESCR: GeneTests-GeneClinics
DB_LINK: http://www.geneclinics.org/query?mim=108740
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+488
PMID: 14749390,14638697,12975374,12925205,12805933,12804600,12670936,12659872,12479238,12477932,11945024,11725862,10080178,8406504,2844796
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|calcium ion transport|IEA|GO:0006816|GOA|na
GO: molecular function|calcium-transporting ATPase activity|TAS|GO:0005388|GOA|2844796
GO: biological process|cation transport|IEA|GO:0006812|GOA|na
GO: biological process|cell adhesion|TAS|GO:0007155|GOA|10080178
GO: cellular component|endoplasmic reticulum|NR|GO:0005783|GOA|na
GO: biological process|epidermis development|TAS|GO:0008544|GOA|10080178
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|2844796
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: cellular component|membrane fraction|TAS|GO:0005624|GOA|2844796
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: cellular component|microsome|TAS|GO:0005792|GOA|2844796
GO: biological process|proton transport|IEA|GO:0015992|GOA|na
GO: biological process|transport|TAS|GO:0006810|GOA|2844796
>>489
LOCUSID: 489
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_005173|28373102|na
NP: NP_005164|28373103
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|165|na|6.753750e+01
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1729|na|6.701620e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3607|na|1.393480e+03
PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform a
TRANSVAR: Transcript Variant: This variant (1) encodes isoform a.
ASSEMBLY: Y15724,Z69881
NM: NM_174953|28373104|na
NP: NP_777613|28373105
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|165|na|6.753750e+01
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1738|na|6.736280e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3614|na|1.396170e+03
PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform e
TRANSVAR: Transcript Variant: This variant (5) includes two additional exons in the 3' coding region but maintains the reading frame, compared to variant 1. Variant 5 encodes isoform e, which is longer than isoform a.
ASSEMBLY: AF458229,Y15724,Z69881
NM: NM_174954|28373106|na
NP: NP_777614|28373107
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|165|na|6.753750e+01
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1738|na|6.736280e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3615|na|1.396560e+03
PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform d
TRANSVAR: Transcript Variant: This variant (4) includes two additional exons in the 3' coding region resulting in a frameshift, compared to variant 1. Variant 4 encodes isoform d, which is longer and has a distinct C-terminus compared to isoform a.
ASSEMBLY: AF458228,Y15724,Z69881
NM: NM_174955|28373108|na
NP: NP_777615|28373109
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|166|na|6.792270e+01
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1741|na|6.747840e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3614|na|1.396170e+03
PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform b
TRANSVAR: Transcript Variant: This variant (2) includes an additional exon in the 3' coding region resulting in a frameshift, compared to variant 1. Variant 2 encodes isoform b, which is longer and has a distinct C-terminus compared to isoform a.
ASSEMBLY: Y15724,Y15737,Z69881
NM: NM_174956|28373110|na
NP: NP_777616|28373111
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|165|na|6.753750e+01
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1736|na|6.728580e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3614|na|1.396170e+03
PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform c
TRANSVAR: Transcript Variant: This variant (3) includes an additional exon in the 3' coding region resulting in a frameshift, compared to variant 1. Variant 3 encodes isoform c, which is longer and has a distinct C-terminus compared to isoform a.
ASSEMBLY: Y15724
NM: NM_174957|28373112|na
NP: NP_777617|28373113
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|165|na|6.753750e+01
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1729|na|6.701620e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3607|na|1.393480e+03
PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform f
TRANSVAR: Transcript Variant: This variant (6) uses an alternate in frame splice site in the 3' coding region, compared to variant 1. Variant 6 encodes isoform f, which is one aa shorter than isoform a.
ASSEMBLY: AF068220,Y15724,Z69881
NM: NM_174958|28373114|na
NP: NP_777618|28373115
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|165|na|6.753750e+01
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1736|na|6.728580e+02
CDD: KOG0202: Ca2+ transporting ATPase [Inorganic ion transport and metabolism]|17998|3614|na|1.396170e+03
PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform c
TRANSVAR: Transcript Variant: This variant (7) includes an additional exon and uses alternate splices in the 3' coding region resulting in a frameshift, compared to variant 1. Variant 7 encodes isoform c, which is longer and has a distinct C-terminus compared to isoform a.
ASSEMBLY: AF068221,Y15724,Z69881
CONTIG: NT_010718.14|37543500|na|2674199|2714766|-|17|reference
EVID: supported by alignment with mRNA
XM: NM_005173|28373102|na
XP: NP_005164|28373103|na
EVID: supported by alignment with mRNA
XM: NM_174953|28373104|na
XP: NP_777613|28373105|na
EVID: supported by alignment with mRNA
XM: NM_174954|28373106|na
XP: NP_777614|28373107|na
EVID: supported by alignment with mRNA
XM: NM_174955|28373108|na
XP: NP_777615|28373109|na
EVID: supported by alignment with mRNA
XM: NM_174956|28373110|na
XP: NP_777616|28373111|na
EVID: supported by alignment with mRNA
XM: NM_174957|28373112|na
XP: NP_777617|28373113|na
EVID: supported by alignment with mRNA
XM: NM_174958|28373114|na
XP: NP_777618|28373115|na
ACCNUM: Y15724|3021395|na|na|na
TYPE: g
PROT: CAA75739|3021396|1
ACCNUM: Y15737|3004458|na|na|na
TYPE: g
PROT: CAA75747|3004459|1
ACCNUM: Y15738|3004460|na|na|na
TYPE: g
PROT: CAA75748|3004461|1
ACCNUM: Z69880|1524089|na|na|na
TYPE: g
PROT: CAA93736|1524090|1
ACCNUM: AF068220|3211976|na|na|na
TYPE: m
PROT: AAC24525|3211977|1
ACCNUM: AF068221|3211978|na|na|na
TYPE: m
PROT: AAC24526|3211979|1
ACCNUM: AF458228|18766339|na|na|na
TYPE: m
PROT: AAL78967|18766340|1
ACCNUM: AF458229|18766341|na|na|na
TYPE: m
PROT: AAL78968|18766342|1
ACCNUM: BC035729|23273018|na|na|na
TYPE: m
PROT: AAH35729|23273019|1
ACCNUM: S68239|544921|na|na|na
TYPE: m
PROT: AAB29700|544922|1
ACCNUM: Z69881|1524091|na|na|na
TYPE: m
PROT: CAA93737|1524092|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q93084|19864659|0
OFFICIAL_SYMBOL: ATP2A3
OFFICIAL_GENE_NAME: ATPase, Ca++ transporting, ubiquitous
ALIAS_SYMBOL: SERCA3
PREFERRED_PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform a
PREFERRED_PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform b
PREFERRED_PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform c
PREFERRED_PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform d
PREFERRED_PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform e
PREFERRED_PRODUCT: sarco/endoplasmic reticulum Ca2+ -ATPase isoform f
SUMMARY: Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms.
CHR: 17
STS: RH12619|17|16887|na|seq_map|epcr
STS: G42991|17|94862|na|seq_map|epcr
COMP: 8281|17|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=17&MAPS=genes-r-org/rat-chr/human%3A17,genes-r-org/mouse-chr/human%3A17,genes-r-org/human-chr17&query=e%3A489[id]+AND+gene[obj_type]&QSTR=atp2a3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: calcium pump 3
ALIAS_PROT: SR Ca(2+)-ATPase 3
ALIAS_PROT: adenosine triphosphatase, calcium
ALIAS_PROT: calcium-translocating P-type ATPase
ALIAS_PROT: ATPase, Ca(2+)-transporting, ubiquitous
ALIAS_PROT: sarco/endoplasmic reticulum Ca2+ -ATPase
ALIAS_PROT: sarcoplasmic/endoplasmic reticulum calcium ATPase 3
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5541
UNIGENE: Hs.5541
OMIM: 601929
ECNUM: 3.6.3.8
MAP: 17p13.3|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601929">OMIM</a>|C|
MAPLINK: default_human_gene|ATP2A3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=489
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=489[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:133715
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/133715.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_174953
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_174953
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+489
PMID: 15028735,12540840,12503734,12477932,12207029,11986315,11956212,9843705,9593748,8809064,8288608
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|calcium ion transport|IEA|GO:0006816|GOA|na
GO: molecular function|calcium-transporting ATPase activity|IEA|GO:0005388|GOA|8809064
GO: molecular function|calcium-transporting ATPase activity|TAS|GO:0005388|GOA|8809064
GO: biological process|cation transport|IEA|GO:0006812|GOA|na
GO: cellular component|endoplasmic reticulum|NR|GO:0005783|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8809064
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|proton transport|IEA|GO:0015992|GOA|na
GO: biological process|transport|TAS|GO:0006810|GOA|8809064
>>490
LOCUSID: 490
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001001323|48255946|na
NP: NP_001001323|48255947
CDD: pfam00122: E1-E2 ATPase|15125|245|na|9.825700e+01
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|119|na|5.035610e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|184|na|7.485630e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|250|na|1.003100e+02
CDD: COG0561: Predicted hydrolases of the HAD superfamily [General function prediction only]|10432|95|na|4.085200e+01
PRODUCT: plasma membrane calcium ATPase 1 isoform 1a
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript, but encodes the shorter isoform (1a), also known as hPMCA1a.
ASSEMBLY: AF070606,AK027053,BM974301,M95541,S49852
NM: NM_001682|48255944|na
NP: NP_001673|48255945
CDD: pfam00122: E1-E2 ATPase|15125|246|na|9.864220e+01
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|119|na|5.035610e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|183|na|7.447110e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|252|na|1.010810e+02
CDD: COG0561: Predicted hydrolases of the HAD superfamily [General function prediction only]|10432|95|na|4.085200e+01
PRODUCT: plasma membrane calcium ATPase 1 isoform 1b
TRANSVAR: Transcript Variant: This variant (2) lacks a segment in the coding region, which leads to a frameshift, compared to variant 1. The resulting isoform (1b) contains a longer and distinct C-terminus compared to isoform 1a.
ASSEMBLY: AF070606,AK027053,BM974301,M95541
CONTIG: NT_019546.15|29802923|na|13466398|13532035|-|12|reference
EVID: supported by alignment with mRNA
XM: NM_001682|48255944|na
XP: NP_001673|48255945|na
ACCNUM: L14561|4165324|na|na|na
TYPE: g
PROT: AAD09924|4165325|1
PROT: AAD09925|4165326|1
ACCNUM: M25824|179248|na|na|na
TYPE: g
PROT: AAA58381|179249|1
PROT: AAA58382|179250|1
PROT: AAA58383|553195|1
ACCNUM: AF070606|3387987|na|na|na
TYPE: m
ACCNUM: AK024895|10437309|na|na|na
TYPE: m
ACCNUM: AK027053|10440074|na|na|na
TYPE: m
ACCNUM: BC015346|15929849|na|na|na
TYPE: m
ACCNUM: BM974301|19591892|na|na|na
TYPE: m
ACCNUM: J04027|950413|na|na|na
TYPE: m
PROT: AAA74511|190133|1
ACCNUM: M95541|184269|na|na|na
TYPE: m
PROT: AAA35999|184270|1
ACCNUM: M95542|184271|na|na|na
TYPE: m
PROT: AAA36000|184272|1
ACCNUM: S49852|260844|na|na|na
TYPE: m
PROT: AAB24324|260845|1
ACCNUM: U15686|558957|na|na|na
TYPE: m
PROT: AAA60983|558958|1
ACCNUM: U15687|558959|na|na|na
TYPE: m
PROT: AAA60984|558960|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P20020|14286104|0
OFFICIAL_SYMBOL: ATP2B1
OFFICIAL_GENE_NAME: ATPase, Ca++ transporting, plasma membrane 1
ALIAS_SYMBOL: PMCA1
PREFERRED_PRODUCT: plasma membrane calcium ATPase 1 isoform 1a
PREFERRED_PRODUCT: plasma membrane calcium ATPase 1 isoform 1b
SUMMARY: Summary: The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified.
CHR: 12
STS: D12S2009|12|6932|D12S2009|seq_map|epcr
STS: WI-7734|12|10370|na|seq_map|epcr
STS: RH45012|12|50850|na|seq_map|epcr
STS: WI-18859|12|54722|na|seq_map|epcr
COMP: 36076|12|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=12&MAPS=genes-r-org/rat-chr/human%3A12,genes-r-org/human-chr12&query=e%3A490[id]+AND+gene[obj_type]&QSTR=atp2b1&cmd=focus&fill=10|Rat
ALIAS_PROT: plasma membrane calcium pump isoform 1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=20952
UNIGENE: Hs.20952
OMIM: 108731
ECNUM: 3.6.3.8
MAP: 12q21.3|RefSeq|C|
MAPLINK: default_human_gene|ATP2B1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=490
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=490[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127283
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001682
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001001323
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001682
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001001323
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+490
PMID: 15101689,12851406,12784250,11786550,11152753,10748016,10493800,9110174,9020386,8889548,8634322,8619474,8396145,8386431,8245032,7989379,7694502,2844759,2548572,2528729,1827443,1674727,1332771
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|calcium ion transport|IEA|GO:0006816|GOA|na
GO: molecular function|calcium-transporting ATPase activity|TAS|GO:0005388|GOA|8396145
GO: molecular function|calmodulin binding|IEA|GO:0005516|GOA|na
GO: biological process|cation transport|IEA|GO:0006812|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|8396145
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|transport|TAS|GO:0006810|GOA|8396145
>>491
LOCUSID: 491
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001001331|48255950|na
NP: NP_001001331|48255951
CDD: pfam00122: E1-E2 ATPase|15125|168|na|6.859670e+01
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|119|na|5.035610e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|137|na|5.675190e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|272|na|1.087850e+02
CDD: COG0561: Predicted hydrolases of the HAD superfamily [General function prediction only]|10432|102|na|4.354840e+01
PRODUCT: plasma membrane calcium ATPase 2 isoform a
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a), also known as 2w.
ASSEMBLY: AA197323,AL134596,BC019853,BX489007,CA391502,CK023951,L20977,M97260,R53305,X63575
NM: NM_001683|48255948|na
NP: NP_001674|48255949
CDD: pfam00122: E1-E2 ATPase|15125|386|na|1.525700e+02
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|119|na|5.035610e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|137|na|5.675190e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|270|na|1.080140e+02
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1366|na|5.303340e+02
PRODUCT: plasma membrane calcium ATPase 2 isoform b
TRANSVAR: Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.
ASSEMBLY: AA197323,AL134596,BC019853,BX489007,CA391502,CK023951,L20977,M97260,R53305,X63575
CONTIG: NT_022517.16|37550163|na|10309692|10689716|-|3|reference
EVID: supported by alignment with mRNA
XM: NM_001683|48255948|na
XP: NP_001674|48255949|na
ACCNUM: AA197323|1792896|na|na|na
TYPE: m
ACCNUM: AL134596|6602783|na|na|na
TYPE: m
ACCNUM: BC019853|22507522|na|na|na
TYPE: m
ACCNUM: BX489007|31955122|na|na|na
TYPE: m
ACCNUM: CA391502|24723450|na|na|na
TYPE: m
ACCNUM: CK023951|38549875|na|na|na
TYPE: m
ACCNUM: L00620|179733|na|na|na
TYPE: m
PROT: AAA51893|179734|1
ACCNUM: L20977|404701|na|na|na
TYPE: m
PROT: AAA50877|404702|1
ACCNUM: M97260|190098|na|na|na
TYPE: m
PROT: AAA36456|190099|1
ACCNUM: R53305|815207|na|na|na
TYPE: m
ACCNUM: U15688|558961|na|na|na
TYPE: m
PROT: AAA60985|558962|1
ACCNUM: X63575|2193883|na|na|na
TYPE: m
PROT: CAA45131|2193884|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q01814|14286115|0
OFFICIAL_SYMBOL: ATP2B2
OFFICIAL_GENE_NAME: ATPase, Ca++ transporting, plasma membrane 2
ALIAS_SYMBOL: PMCA2
PREFERRED_PRODUCT: plasma membrane calcium ATPase 2 isoform a
PREFERRED_PRODUCT: plasma membrane calcium ATPase 2 isoform b
SUMMARY: Summary: The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified.
CHR: 3
STS: G10673|3|40748|na|seq_map|epcr
STS: D3S3990|3|43011|D3S3990|seq_map|epcr
STS: NIB487|3|48862|na|seq_map|epcr
STS: D3S3903|3|51858|D3S3903|seq_map|epcr
STS: SHGC-76702|3|77698|na|seq_map|epcr
COMP: 36077|3|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=3&MAPS=genes-r-org/rat-chr/human%3A3,genes-r-org/mouse-chr/human%3A3,genes-r-org/human-chr3&query=e%3A491[id]+AND+gene[obj_type]&QSTR=atp2b2&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: plasma membrane calcium pump isoform 2
ALIAS_PROT: ATPase, Ca++ transporting, plasma membrane 2 (NOTE: redefinition of symbol)
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89512
UNIGENE: Hs.89512
OMIM: 108733
ECNUM: 3.6.3.8
MAP: 3p25.3|RefSeq|C|
MAPLINK: default_human_gene|ATP2B2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=491
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=491[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132584
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001683
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001001331
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001683
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001001331
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+491
PMID: 15101689,12784250,12624087,12107410,11152753,9697703,9668038,8634322,8428366,8245032,8162598,7989379,1427863,1313367
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|calcium ion transport|IEA|GO:0006816|GOA|na
GO: molecular function|calcium-transporting ATPase activity|TAS|GO:0005388|GOA|1313367
GO: molecular function|calmodulin binding|IEA|GO:0005516|GOA|na
GO: biological process|cation transport|IEA|GO:0006812|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|1313367
GO: biological process|transport|TAS|GO:0006810|GOA|1313367
>>492
LOCUSID: 492
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001001344|48255954|na
NP: NP_001001344|48255955
CDD: pfam00122: E1-E2 ATPase|15125|229|na|9.209380e+01
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|127|na|5.343770e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|192|na|7.793790e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|262|na|1.049330e+02
CDD: COG2217: Cation transport ATPase [Inorganic ion transport and metabolism]|11924|144|na|5.946870e+01
CDD: COG0561: Predicted hydrolases of the HAD superfamily [General function prediction only]|10432|94|na|4.046680e+01
PRODUCT: plasma membrane calcium ATPase 3 isoform 3b
TRANSVAR: Transcript Variant: This variant (2) lacks a segment in the coding region, which leads to a frameshift, compared to variant 1. The resulting isoform (3b) contains a longer and distinct C-terminus compared to isoform 3a.
ASSEMBLY: BC047580,BG739902,BM680649,BM695792,BM805938,BM986989,BQ878721,BU183973,BU790224,BU790521,U57971,U60414
NM: NM_021949|48255952|na
NP: NP_068768|48255953
CDD: pfam00122: E1-E2 ATPase|15125|228|na|9.170860e+01
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|128|na|5.382290e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|194|na|7.870830e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|263|na|1.053180e+02
CDD: COG0561: Predicted hydrolases of the HAD superfamily [General function prediction only]|10432|96|na|4.123720e+01
PRODUCT: plasma membrane calcium ATPase 3 isoform 3a
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript, but encodes the shorter isoform (3a).
ASSEMBLY: BC047580,BG739902,BM680649,BM695792,BM805938,BM986989,BQ878721,BU183973,BU790224,BU790521,U57971,U60414
CONTIG: NT_025965.12|37546492|na|153555|198022|+|X|reference
EVID: supported by alignment with mRNA
XM: NM_021949|48255952|na
XP: NP_068768|48255953|na
ACCNUM: AF060496|3089628|na|na|na
TYPE: g
PROT: AAC15078|3089632|1
ACCNUM: AK090838|21749074|na|na|na
TYPE: m
ACCNUM: AK094500|21753574|na|na|na
TYPE: m
ACCNUM: AK130194|34526946|na|na|na
TYPE: m
PROT: BAC85302|34526947|1
ACCNUM: BC047580|28839445|na|na|na
TYPE: m
ACCNUM: BG739902|14050555|na|na|na
TYPE: m
ACCNUM: BM680649|18990545|na|na|na
TYPE: m
ACCNUM: BM695792|19009050|na|na|na
TYPE: m
ACCNUM: BM805938|19122761|na|na|na
TYPE: m
ACCNUM: BM986989|19706378|na|na|na
TYPE: m
ACCNUM: BQ878721|22270729|na|na|na
TYPE: m
ACCNUM: BU183973|22697957|na|na|na
TYPE: m
ACCNUM: BU790224|23840443|na|na|na
TYPE: m
ACCNUM: BU790521|23841023|na|na|na
TYPE: m
ACCNUM: U15689|558963|na|na|na
TYPE: m
PROT: AAA60986|558964|1
ACCNUM: U15690|558965|na|na|na
TYPE: m
PROT: AAA60987|558966|1
ACCNUM: U57971|1377924|na|na|na
TYPE: m
PROT: AAB09762|1377925|1
ACCNUM: U60414|1408217|na|na|na
TYPE: m
PROT: AAB38530|1408218|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: Q16720|14286116|0
OFFICIAL_SYMBOL: ATP2B3
OFFICIAL_GENE_NAME: ATPase, Ca++ transporting, plasma membrane 3
ALIAS_SYMBOL: PMCA3
PREFERRED_PRODUCT: plasma membrane calcium ATPase 3 isoform 3a
PREFERRED_PRODUCT: plasma membrane calcium ATPase 3 isoform 3b
SUMMARY: Summary: The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified.
CHR: X
STS: DXS7001E|X|3345|DXS7001E|seq_map|epcr
STS: WI-15046|X|14600|na|seq_map|epcr
STS: A006S03|X|57488|na|seq_map|epcr
STS: RH80841|X|88315|na|seq_map|epcr
COMP: 1271|X|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=X&MAPS=genes-r-org/rat-chr/human%3AX,genes-r-org/mouse-chr/human%3AX,genes-r-org/human-chrX&query=e%3A492[id]+AND+gene[obj_type]&QSTR=atp2b3&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: plasma membrane calcium pump isoform 3
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=103124
UNIGENE: Hs.103124
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=533956
UNIGENE: Hs.533956
OMIM: 300014
ECNUM: 3.6.3.8
MAP: Xq28|HUGO|C|
MAPLINK: default_human_gene|ATP2B3
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=492
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=492[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:132861
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021949
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021949
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+492
PMID: 15101689,14702039,12784250,11152753,8889548,8765088,8634322,8245032,8187550,7989379
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|calcium ion transport|IEA|GO:0006816|GOA|na
GO: molecular function|calcium-transporting ATPase activity|TAS|GO:0005388|GOA|8765088
GO: molecular function|calmodulin binding|IEA|GO:0005516|GOA|na
GO: biological process|cation transport|IEA|GO:0006812|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: cellular component|plasma membrane|TAS|GO:0005886|GOA|8765088
GO: biological process|transport|TAS|GO:0006810|GOA|8765088
>>493
LOCUSID: 493
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001001396|48255958|na
NP: NP_001001396|48255959
CDD: pfam00122: E1-E2 ATPase|15125|162|na|6.628550e+01
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|133|na|5.574890e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|152|na|6.252990e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|244|na|9.799920e+01
CDD: COG0561: Predicted hydrolases of the HAD superfamily [General function prediction only]|10432|92|na|3.969640e+01
PRODUCT: plasma membrane calcium ATPase 4 isoform 4b
TRANSVAR: Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (4b) contains a shorter and distinct C-terminus compared to isoform 4a.
ASSEMBLY: AL601702,AL706212,BF740130,BX537444,BX537745,BX647701,M83363
NM: NM_001684|48255956|na
NP: NP_001675|48255957
CDD: pfam00122: E1-E2 ATPase|15125|163|na|6.667070e+01
CDD: pfam00702: haloacid dehalogenase-like hydrolase|25595|133|na|5.574890e+01
CDD: pfam00690: Cation transporter/ATPase, N-terminus|16803|152|na|6.252990e+01
CDD: pfam00689: Cation transporting ATPase, C-terminus|24460|245|na|9.838440e+01
CDD: COG0561: Predicted hydrolases of the HAD superfamily [General function prediction only]|10432|92|na|3.969640e+01
PRODUCT: plasma membrane calcium ATPase 4 isoform 4a
TRANSVAR: Transcript Variant: This variant (1) represents the shorter transcript, but encodes the longer isoform (4a).
ASSEMBLY: AL601702,AL706212,BF740130,BX537444,BX537745,BX647701,M25874
CONTIG: NT_034410.5|37547201|na|22370|139890|+|1|reference
EVID: supported by alignment with mRNA
XM: NM_001684|48255956|na
XP: NP_001675|48255957|na
ACCNUM: AK026443|10439309|na|na|na
TYPE: m
ACCNUM: AL601702|15165208|na|na|na
TYPE: m
ACCNUM: AL706212|19689567|na|na|na
TYPE: m
ACCNUM: BC062445|38382831|na|na|na
TYPE: m
ACCNUM: BF740130|12066806|na|na|na
TYPE: m
ACCNUM: BX537444|31873389|na|na|na
TYPE: m
PROT: CAD97686|31873390|1
ACCNUM: BX537745|31873696|na|na|na
TYPE: m
ACCNUM: BX647701|34366858|na|na|na
TYPE: m
ACCNUM: M25874|179162|na|na|na
TYPE: m
PROT: AAA50819|179163|1
ACCNUM: M83363|190096|na|na|na
TYPE: m
PROT: AAA36455|190097|1
ACCNUM: U42026|1147748|na|na|na
TYPE: m
PROT: AAB17577|1147749|1
ACCNUM: U42061|1147750|na|na|na
TYPE: m
PROT: AAB17578|1147751|1
ACCNUM: U42062|1147752|na|na|na
TYPE: m
PROT: AAB17579|1147753|1
ACCNUM: U42378|1147754|na|na|na
TYPE: m
PROT: AAB17580|1147755|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P23634|14286105|0
OFFICIAL_SYMBOL: ATP2B4
OFFICIAL_GENE_NAME: ATPase, Ca++ transporting, plasma membrane 4
ALIAS_SYMBOL: PMCA4
ALIAS_SYMBOL: ATP2B2
PREFERRED_PRODUCT: plasma membrane calcium ATPase 4 isoform 4a
PREFERRED_PRODUCT: plasma membrane calcium ATPase 4 isoform 4b
SUMMARY: Summary: The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified.
CHR: 1
STS: D1S510|-|3008|D1S510|na|epcr
STS: SHGC-56960|1|23229|na|seq_map|epcr
STS: RH64618|1|32646|na|seq_map|epcr
STS: RH63844|1|32820|na|seq_map|epcr
STS: G19696|1|35497|na|seq_map|epcr
STS: A001V38|1|35498|na|seq_map|epcr
STS: SHGC-76196|1|40587|na|seq_map|epcr
STS: SHGC-76187|1|40760|na|seq_map|epcr
STS: D1S2376|1|46530|D1S2376|seq_map|epcr
STS: RH64645|1|50450|na|seq_map|epcr
STS: SHGC-12393|1|53756|na|seq_map|epcr
STS: SHGC-76189|1|60416|na|na|epcr
STS: D1S510|-|78548|D1S510|na|epcr
STS: AL034138|1|93909|na|seq_map|epcr
STS: GDB:451643|-|157334|na|na|epcr
COMP: 20406|1|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=1&MAPS=genes-r-org/rat-chr/human%3A1,genes-r-org/mouse-chr/human%3A1,genes-r-org/human-chr1&query=e%3A493[id]+AND+gene[obj_type]&QSTR=atp2b4&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: plasma membrane calcium pump isoform 4
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=343522
UNIGENE: Hs.343522
OMIM: 108732
ECNUM: 3.6.3.8
MAP: 1q32.1|RefSeq|C|
MAPLINK: default_human_gene|ATP2B4
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=493
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=493[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:127284
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001684
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001001396
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001684
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001001396
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+493
DB_DESCR: PharmGKB: PA25110
DB_LINK: http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25110
PMID: 15101689,12944246,12784250,12540962,12511555,12477932,11751908,11152753,10748016,8700162,8634322,2137451,1674727,1531651,1427863,1313367
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|calcium ion binding|IEA|GO:0005509|GOA|na
GO: biological process|calcium ion transport|IEA|GO:0006816|GOA|na
GO: molecular function|calcium-transporting ATPase activity|TAS|GO:0005388|GOA|2137451
GO: molecular function|calmodulin binding|IEA|GO:0005516|GOA|na
GO: biological process|cation transport|IEA|GO:0006812|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|2137451
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|transport|TAS|GO:0006810|GOA|2137451
>>494
LOCUSID: 494
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ATP3
OFFICIAL_GENE_NAME: ATPase, Mg++ transporting
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:118757
>>495
LOCUSID: 495
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_000704|4502290|na
NP: NP_000695|4502291
CDD: COG0474: Cation transport ATPase [Inorganic ion transport and metabolism]|10347|1540|na|5.973590e+02
CDD: KOG0203: Na+/K+ ATPase, alpha subunit [Inorganic ion transport and metabolism]|17999|4106|na|1.585640e+03
PRODUCT: ATPase, H+/K+ exchanging, alpha polypeptide
ASSEMBLY: M63962
CONTIG: NT_011109.15|29800594|na|8309317|8322779|-|19|reference
EVID: supported by alignment with mRNA
XM: NM_000704|4502290|na
XP: NP_000695|4502291|na
ACCNUM: AC002389|2282012|na|na|na
TYPE: g
PROT: AAB64182|2282014|1
ACCNUM: AD000090|1905894|na|na|na
TYPE: g
PROT: AAB50172|1905895|1
ACCNUM: J05451|561633|na|na|na
TYPE: g
PROT: AAA51010|561634|1
ACCNUM: M27575|179242|na|na|na
TYPE: g
PROT: AAA35577|179243|1
ACCNUM: M63962|184106|na|na|na
TYPE: g
PROT: AAA35988|184107|1
ACCNUM: AK058032|16554033|na|na|na
TYPE: m
ACCNUM: AL832971|21733559|na|na|na
TYPE: m
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P20648|1352000|0
OFFICIAL_SYMBOL: ATP4A
OFFICIAL_GENE_NAME: ATPase, H+/K+ exchanging, alpha polypeptide
ALIAS_SYMBOL: ATP6A
PREFERRED_PRODUCT: ATPase, H+/K+ exchanging, alpha polypeptide
CHR: 19
STS: D19S1084|19|22851|D19S1084|seq_map|epcr
COMP: 20181|19|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=19&MAPS=genes-r-org/rat-chr/human%3A19,genes-r-org/mouse-chr/human%3A19,genes-r-org/human-chr19&query=e%3A495[id]+AND+gene[obj_type]&QSTR=atp4a&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ATPase, H+, K+ transporting, alpha
ALIAS_PROT: ATPase, H+/K+ transporting, alpha polypeptide
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=36992
UNIGENE: Hs.36992
OMIM: 137216
ECNUM: 3.6.1.36
MAP: 19q13.1|HUGO|C|
MAPLINK: default_human_gene|ATP4A
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=495
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=495[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:125183
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000704
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000704
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+495
PMID: 2176086,2160952,1330887
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: molecular function|hydrogen:potassium-exchanging ATPase activity|TAS|GO:0008900|GOA|2160952
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|integral to plasma membrane|TAS|GO:0005887|GOA|2160952
GO: molecular function|magnesium ion binding|IEA|GO:0000287|GOA|na
GO: biological process|metabolism|IEA|GO:0008152|GOA|na
GO: biological process|potassium ion transport|IEA|GO:0006813|GOA|na
GO: biological process|proton transport|IEA|GO:0015992|GOA|na
GO: biological process|transport|TAS|GO:0006810|GOA|2160952
>>496
LOCUSID: 496
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000705|4557338|na
NP: NP_000696|4557339
CDD: pfam00287: Sodium / potassium ATPase beta chain|7546|955|na|3.719330e+02
PRODUCT: ATPase, H+/K+ exchanging, beta polypeptide
ASSEMBLY: AB008783,M75110
CONTIG: NT_027140.6|37545858|na|1799183|1808519|-|13|reference
EVID: supported by alignment with mRNA
XM: NM_000705|4557338|na
XP: NP_000696|4557339|na
ACCNUM: AB008783|2626754|na|na|na
TYPE: g
PROT: BAA23425|2626755|1
ACCNUM: BC029059|20809654|na|na|na
TYPE: m
PROT: AAH29059|20809655|1
ACCNUM: BC042846|27503647|na|na|na
TYPE: m
ACCNUM: M75110|184104|na|na|na
TYPE: m
PROT: AAA35987|184105|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P51164|1703461|0
OFFICIAL_SYMBOL: ATP4B
OFFICIAL_GENE_NAME: ATPase, H+/K+ exchanging, beta polypeptide
ALIAS_SYMBOL: ATP6B
PREFERRED_PRODUCT: ATPase, H+/K+ exchanging, beta polypeptide
SUMMARY: Summary: Hydrogen-potassium adenosine triphosphatase (H(+),K(+)-ATPase) belongs to a family of P-type cation-transporting ATPases. H(+),K(+)-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit.
CHR: 13
STS: STS-M75110|13|36424|na|seq_map|epcr
STS: STS-M75110|13|46762|na|seq_map|epcr
COMP: 20182|13|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=13&MAPS=genes-r-org/rat-chr/human%3A13,genes-r-org/mouse-chr/human%3A13,genes-r-org/human-chr13&query=e%3A496[id]+AND+gene[obj_type]&QSTR=atp4b&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: ATPase, H+, K+ transporting, beta
ALIAS_PROT: ATPase, H+/K+ transporting, beta polypeptide
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434202
UNIGENE: Hs.434202
OMIM: 137217
ECNUM: 3.6.1.36
MAP: 13q34|HUGO|C|
MAPLINK: default_human_gene|ATP4B
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=496
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=496[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:136045
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000705
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000705
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+496
PMID: 12477932,11865975,9315713,1656976,1335958,1330887
GO: molecular function|hydrogen:potassium-exchanging ATPase activity|TAS|GO:0008900|GOA|1656976
GO: cellular component|integral to membrane|IEA|GO:0016021|GOA|na
GO: biological process|potassium ion transport|IEA|GO:0006813|GOA|na
GO: biological process|proton transport|IEA|GO:0015992|GOA|na
GO: biological process|sodium ion transport|IEA|GO:0006814|GOA|na
GO: molecular function|sodium:potassium-exchanging ATPase activity|IEA|GO:0005391|GOA|na
>>497
LOCUSID: 497
CURRENT_LOCUSID: 522
ORGANISM: Homo sapiens
>>498
LOCUSID: 498
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001001935|50345981|na
NP: NP_001001935|50345982
CDD: pfam00306: ATP synthase alpha/beta chain, C terminal domain|25479|211|na|8.537600e+01
CDD: pfam02874: ATP synthase alpha/beta family, beta-barrel domain|24660|164|na|6.713620e+01
CDD: pfam00006: ATP synthase alpha/beta family, nucleotide-binding domain|25357|646|na|2.527090e+02
PRODUCT: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit isoform b
TRANSVAR: Transcript Variant: This variant (3) lacks an in-frame segment of the coding region, and uses a downstream start codon, compared to variant 1. Isoform b has a shorter N-terminus, compared to isoform a.
ASSEMBLY: AK129900,AW205533,CD244623
NM: NM_001001937|50345983|na
NP: NP_001001937|50345984
CDD: pfam00306: ATP synthase alpha/beta chain, C terminal domain|25479|213|na|8.614640e+01
CDD: pfam02874: ATP synthase alpha/beta family, beta-barrel domain|24660|166|na|6.790660e+01
CDD: pfam00006: ATP synthase alpha/beta family, nucleotide-binding domain|25357|648|na|2.534800e+02
PRODUCT: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit isoform a precursor
TRANSVAR: Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform (a).
ASSEMBLY: AK129900,AU143001,AW205533,CD244623
NM: NM_004046|50345980|na
NP: NP_004037|4757810
CDD: pfam00306: ATP synthase alpha/beta chain, C terminal domain|25479|213|na|8.614640e+01
CDD: pfam02874: ATP synthase alpha/beta family, beta-barrel domain|24660|166|na|6.790660e+01
CDD: pfam00006: ATP synthase alpha/beta family, nucleotide-binding domain|25357|648|na|2.534800e+02
PRODUCT: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit isoform a precursor
TRANSVAR: Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
ASSEMBLY: AK129900,AU120644,AW205533
CONTIG: NT_010966.13|29823167|na|25153217|25167358|-|18|reference
EVID: supported by alignment with mRNA
XM: NM_004046|50345980|na
XP: NP_004037|4757810|na
ACCNUM: D28126|559316|na|na|na
TYPE: g
PROT: BAA05672|559317|1
ACCNUM: AK092735|21751401|na|na|na
TYPE: m
ACCNUM: AK098765|21758878|na|na|na
TYPE: m
ACCNUM: AK129739|34526349|na|na|na
TYPE: m
ACCNUM: AK129804|34526420|na|na|na
TYPE: m
ACCNUM: AK129900|34526600|na|na|na
TYPE: m
ACCNUM: AU120644|10935879|na|na|na
TYPE: m
ACCNUM: AU143001|11004522|na|na|na
TYPE: m
ACCNUM: AW205533|6505005|na|na|na
TYPE: m
ACCNUM: BC003119|13111900|na|na|na
TYPE: m
PROT: AAH03119|13111901|1
ACCNUM: BC007299|13938338|na|na|na
TYPE: m
PROT: AAH07299|13938339|1
ACCNUM: BC008028|34782900|na|na|na
TYPE: m
PROT: AAH08028|34782901|2
ACCNUM: BC011384|15030239|na|na|na
TYPE: m
PROT: AAH11384|15030240|1
ACCNUM: BC016046|16359159|na|na|na
TYPE: m
PROT: AAH16046|16359160|1
ACCNUM: BC019310|17939538|na|na|na
TYPE: m
PROT: AAH19310|17939539|1
ACCNUM: BC028335|20130434|na|na|na
TYPE: m
ACCNUM: BC035703|23958695|na|na|na
TYPE: m
ACCNUM: BC039135|24660109|na|na|na
TYPE: m
PROT: AAH39135|24660110|1
ACCNUM: BC042694|27469372|na|na|na
TYPE: m
ACCNUM: BC064562|40352909|na|na|na
TYPE: m
PROT: AAH64562|40352910|1
ACCNUM: BC067385|45709752|na|na|na
TYPE: m
PROT: AAH67385|45709753|1
ACCNUM: BT007209|30583256|na|na|na
TYPE: m
PROT: AAP35873|30583257|1
ACCNUM: BT008250|30585338|na|na|na
TYPE: m
PROT: AAP36942|30585339|1
ACCNUM: CD244623|31005087|na|na|na
TYPE: m
ACCNUM: D14710|559324|na|na|na
TYPE: m
PROT: BAA03531|559325|1
ACCNUM: X59066|28937|na|na|na
TYPE: m
PROT: CAA41789|28938|1
ACCNUM: X65460|34467|na|na|na
TYPE: m
PROT: CAA46452|34468|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P25705|114517|0
OFFICIAL_SYMBOL: ATP5A1
OFFICIAL_GENE_NAME: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle
ALIAS_SYMBOL: OMR
ALIAS_SYMBOL: ORM
ALIAS_SYMBOL: ATPM
ALIAS_SYMBOL: ATP5A
ALIAS_SYMBOL: hATP1
ALIAS_SYMBOL: ATP5AL2
PREFERRED_PRODUCT: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit isoform a precursor
PREFERRED_PRODUCT: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit isoform b
SUMMARY: Summary: This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. The three pseudogenes of this gene are located on chromosomes 9, 2 and 16.
CHR: 18
STS: STS-AA020987|16|3377|na|na|epcr
STS: RH11585|18|14181|na|na|epcr
ALIAS_PROT: ATP synthase alpha chain, mitochondrial
ALIAS_PROT: mitochondrial ATP synthetase, oligomycin-resistant
ALIAS_PROT: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=298280
UNIGENE: Hs.298280
OMIM: 164360
ECNUM: 3.6.1.34
MAP: 18q12-q21|RefSeq|C|
MAPLINK: default_human_gene|ATP5A1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=498
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=498[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:137185
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:407610
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004046
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001001937
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004046
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001001937
DB_DESCR: KEGG pathway: ATP Synthase
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa03110+498
DB_DESCR: KEGG pathway: ATP synthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00193+498
DB_DESCR: KEGG pathway: Photosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00195+498
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+498
PMID: 14749816,14702039,12477932,9834036,9461222,9284928,8428659,8168843,8086450,1830491
GO: molecular function|ATP binding|IEA|GO:0005524|GOA|na
GO: biological process|ATP synthesis coupled proton transport|IEA|GO:0015986|GOA|na
GO: molecular function|hydrogen-transporting ATP synthase activity, rotational mechanism|IEA|GO:0046933|GOA|na
GO: molecular function|hydrogen-transporting ATPase activity, rotational mechanism|IEA|GO:0046961|GOA|na
GO: molecular function|hydrolase activity|IEA|GO:0016787|GOA|na
GO: molecular function|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|IEA|GO:0016820|GOA|na
GO: cellular component|membrane fraction|NR|GO:0005624|GOA|na
GO: cellular component|mitochondrion|TAS|GO:0005739|GOA|1830491
GO: biological process|proton transport|IEA|GO:0015992|GOA|na
GO: cellular component|proton-transporting ATP synthase complex (sensu Eukarya)|TAS|GO:0005753|GOA|1830491
GO: cellular component|proton-transporting two-sector ATPase complex|IEA|GO:0016469|GOA|na
GO: molecular function|transporter activity|NR|GO:0005215|GOA|1830491
>>499
LOCUSID: 499
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ATP5A2
OFFICIAL_GENE_NAME: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:137186
DB_DESCR: KEGG pathway: Photosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00195+499
DB_DESCR: KEGG pathway: Oxidative phosphorylation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00190+499
PMID: 2896000,1830491
>>500
LOCUSID: 500
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: ATP5AL1
OFFICIAL_GENE_NAME: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle-like 1
CHR: 9
MAP: 9|RefSeq|C|
MAPLINK: default_human_cyto|ATP5AL1
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:434302
PMID: 8168843
>>501
LOCUSID: 501
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001182|4557342|na
NP: NP_001173|4557343
CDD: KOG2453: Aldehyde dehydrogenase [Energy production and conversion]|20239|2361|na|9.136280e+02
PRODUCT: antiquitin
ASSEMBLY: S74728
CONTIG: NT_034772.5|37550270|na|28295458|28345870|-|5|reference
EVID: supported by alignment with mRNA
XM: NM_001182|4557342|na
XP: NP_001173|4557343|na
ACCNUM: AF002696|2352295|na|na|na
TYPE: g
PROT: AAC51935|2352296|1
ACCNUM: BC002515|34783120|na|na|na
TYPE: m
PROT: AAH02515|34783121|2
ACCNUM: BC071712|47938213|na|na|na
TYPE: m
PROT: AAH71712|47938214|1
ACCNUM: BC073174|49117276|na|na|na
TYPE: m
PROT: AAH73174|49117277|1
ACCNUM: S74728|797409|na|na|na
TYPE: m
PROT: AAB31966|797410|1
ACCNUM: none|na|na|na|na
TYPE: p
PROT: P49419|25108887|0
OFFICIAL_SYMBOL: ALDH7A1
OFFICIAL_GENE_NAME: aldehyde dehydrogenase 7 family, member A1
ALIAS_SYMBOL: ATQ1
PREFERRED_PRODUCT: antiquitin
SUMMARY: Summary: Antiquitin is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. Four human antiquitin-like sequences, possibly pseudogenes, have also been identified.
CHR: 5
STS: D5S2464|5|40371|D5S2464|seq_map|epcr
STS: D5S1933|5|46255|D5S1933|seq_map|epcr
STS: D5S2596|5|50356|D5S2596|na|epcr
STS: RH65314|-|76649|na|na|epcr
COMP: 913|5|http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?taxid=9606&chr=5&MAPS=genes-r-org/rat-chr/human%3A5,genes-r-org/mouse-chr/human%3A5,genes-r-org/human-chr5&query=e%3A501[id]+AND+gene[obj_type]&QSTR=aldh7a1&cmd=focus&fill=10|Mouse|Rat
ALIAS_PROT: antiquitin 1
ALIAS_PROT: aldehyde dehydrogenase 7A1
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=312102
UNIGENE: Hs.312102
OMIM: 107323
ECNUM: 1.2.1.-
MAP: 5q31|RefSeq|C|
MAPLINK: default_human_gene|ALDH7A1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=501
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=501[loc]&TAXID=9606
BUTTON: gdb.gif
LINK: http://www.gdb.org/gdb-bin/genera/accno?GDB:698354
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001182
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001182
DB_DESCR: KEGG pathway: Lysine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00310+501
DB_DESCR: KEGG pathway: Pyruvate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00620+501
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00650+501
DB_DESCR: KEGG pathway: Histidine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00340+501
DB_DESCR: KEGG pathway: Fatty acid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00071+501
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00640+501
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00380+501
DB_DESCR: KEGG pathway: Bile acid biosynthesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00120+501
DB_DESCR: KEGG pathway: Glycerolipid metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00561+501
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00410+501
DB_DESCR: KEGG pathway: Nitrobenzene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00626+501
DB_DESCR: KEGG pathway: Phenylalanine metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00360+501
DB_DESCR: KEGG pathway: Glycolysis / Gluconeogenesis
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00010+501
DB_DESCR: KEGG pathway: 1,2-Dichloroethane degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00631+501
DB_DESCR: KEGG pathway: Arginine and proline metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00330+501
DB_DESCR: KEGG pathway: Limonene and pinene degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00903+501
DB_DESCR: KEGG pathway: Ascorbate and aldarate metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00053+501
DB_DESCR: KEGG pathway: Porphyrin and chlorophyll metabolism
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00860+501
DB_DESCR: KEGG pathway: Valine, leucine and isoleucine degradation
DB_LINK: http://www.genome.jp/dbget-bin/show_pathway?hsa00280+501
PMID: 12477932,9417906,8088832
GO: molecular function|aldehyde dehydrogenase (NAD) activity|ISS|GO:0004029|GOA|na
GO: biological process|aldehyde metabolism|ISS|GO:0006081|GOA|na
GO: cellular component|cellular_component unknown|ND|GO:0008372|GOA|na
GO: molecular function|oxidoreductase activity|IEA|GO:0016491|GOA|na
GO: biological process|perception of sound|TAS|GO:0007605|GOA|9417906
