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MGP000181

UniProt Annotations

Entry Information
Gene Nameaquaporin 1 (Colton blood group)
Protein EntryAQP1_HUMAN
UniProt IDP29972
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P29972-1; Sequence=Displayed; Name=2; IsoId=P29972-2; Sequence=VSP_046109, VSP_046110; Note=No experimental confirmation available.; Name=3; IsoId=P29972-3; Sequence=VSP_046679; Note=Gene prediction based on EST data.; Name=4; IsoId=P29972-4; Sequence=VSP_046680, VSP_046681; Note=Gene prediction based on EST data.;
DomainAquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
FunctionForms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. {ECO:0000269|PubMed:1373524}.
InteractionQ99750:MDFI; NbExp=4; IntAct=EBI-745213, EBI-724076;
MiscellaneousPharmacologically inhibited by submillimolar concentrations of mercury.
PolymorphismAQP1 is responsible for the Colton blood group system. Approximately 92% of Caucasians are Co(A+B-) (Ala-46), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val- 46). Co(A-B-) which is very rare, is due to a complete absence of AQP1.
SimilarityBelongs to the MIP/aquaporin (TC 1.A.8) family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:23219802}; Multi-pass membrane protein {ECO:0000269|PubMed:23219802}.
SubunitHomotetramer. Interacts with EPHB2; involved in endolymph production in the inner ear (By similarity). Identified in a complex with STOM. {ECO:0000250, ECO:0000269|PubMed:23219802}.
Tissue SpecificityDetected in erythrocytes (at protein level). Expressed in a number of tissues including erythrocytes, renal tubules, retinal pigment epithelium, heart, lung, skeletal muscle, kidney and pancreas. Weakly expressed in brain, placenta and liver. {ECO:0000269|PubMed:23219802}.
Web ResourceName=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=colton";
Web ResourceName=Protein Spotlight; Note=Liquid states - Issue 36 of July 2003; URL="http://web.expasy.org/spotlight/back_issues/036";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/aqp1/";
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