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MGP000183

UniProt Annotations

Entry Information
Gene Nameaquaporin 3 (Gill blood group)
Protein EntryAQP3_HUMAN
UniProt IDQ92482
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92482-1; Sequence=Displayed; Name=2; Synonyms=delta5; IsoId=Q92482-2; Sequence=VSP_003229, VSP_003230; Note=Due to a polymorphism at the 5'-splice donor site of intron 5, leading to exon 5 skipping and premature termination of translation. This is the molecular basis of the GIL blood group.;
DomainAquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
FunctionWater channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity). {ECO:0000250}.
InductionUp-regulated by magnesium. {ECO:0000269|PubMed:18495115}.
PolymorphismAQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals that lack functional AQP3.
SimilarityBelongs to the MIP/aquaporin (TC 1.A.8) family. {ECO:0000305}.
Subcellular LocationBasolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney.
Tissue SpecificityWidely expressed in epithelial cells of kidney (collecting ducts) and airways, in keratinocytes, immature dendritic cells and erythrocytes. Isoform 2 is not detectable in erythrocytes at the protein level.
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=gil";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/aqp3/";
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