AQP1, CHIP28, Aquaporin-1, AQP-1, Aquaporin-CHIP, Urine water channel, Water channel protein for red blood cells and kidney proximal tubule
This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016],domain:Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).,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.,miscellaneous:Pharmacologically inhibited by submillimolar concentrations of mercury.,online information:Blood group antigen gene mutation database,online information:Liquid states - Issue 36 of July 2003,polymorphism: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.,similarity:Belongs to the MIP/aquaporin (TC 1.A.8) family.,subunit:Homotetramer.,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.,
