Source: hRBCD ; ID: IPI00024689
BGMUT ; ID: colton
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: AQP1 , CHIP28
Protein names and data: AQP1_HUMAN , Aquaporin-1; AQP-1 , Aquaporin-CHIP; Urine water channel; Water channel protein for red blood cells and kidney proximal tubule Lenght: 269 a.a.
Mass: 28526 Da
fasta formatted sequence

Function: Forms 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.
Cellular location: Membrane; Multi-pass membrane protein.
Tissue specificity: 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.

Genetic variants

AQP1 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.

Database cross-references

UniProt: P29972
Ensembl: ENST00000311813
Ensembl: ENST00000409611
Ensembl: ENST00000409899
Ensembl: ENST00000441328
MIM: 107776
MIM: 110450
neXtProt: NX_P29972
Antibodypedia: P29972 (may not find the protein thus also not any antibody)
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