aquaporin-3; AQP-3 (AQP3)
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Function
- forms a water-specific channel that provide kidney medullary collecting duct with high permeability to water, permitting water to move in the direction of an osmotic gradient
- may function as a water & urea exit mechanism in antidiuresis in collecting duct cells
- slightly permeable to urea & glycerol
- may play an important role in gastrointestinal tract water transport & in glycerol metabolism (putative)
Structure
- aquaporins contain two tandem repeats each containing 3 membrane-spanning domains & a pore-forming loop with the signature motif Asn-Pro-Ala (NPA)
- belongs to the MIP/aquaporin (TC 1.A.8) family
Compartment
- basolateral cell membrane in collecting ducts of kidney
Alternative splicing
named isoforms=2
Expression
- widely expressed in epithelial cells of kidney (collecting ducts) & airways, in keratinocytes, immature dendritic cells & erythrocytes
- isoform 2 is not detectable in erythrocytes at the protein level
Polymorphism
- AQP3 is responsible for the GIL blood group system
- polymorphism at the 5'-splice donor site of intron 5, leading to exon 5 skipping & premature termination of translation
- isoform 2 is detected in GIL-negative individuals that lack functional AQP3
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q92482.html
- ↑ OMIM https://mirror.omim.org/entry/600170
- ↑ dbRBC/BGMUT; Note: Blood group antigen gene mutation database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=gil
- ↑ SeattleSNPs http://pga.gs.washington.edu/data/aqp3/