Source: BGMUT ; ID: gil
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: AQP3
Protein names and data: AQP3_HUMAN , Aquaporin-3; AQP-3 , Aquaglyceroporin-3 Lenght: 292 a.a.
Mass: 31544 Da
fasta formatted sequence

Function: Water 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).
Cellular location: Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney.
Tissue specificity: Widely 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.

Genetic variants

AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals that lack functional AQP3.

Database cross-references

UniProt: Q92482
Ensembl: ENST00000297991
MIM: 600170
MIM: 607457
neXtProt: NX_Q92482
Antibodypedia: Q92482 (may not find the protein thus also not any antibody)
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