Protein Details: Aquaporin-1
Protein ID
ICDB_Pro_0467
Protein Name
Aquaporin-1
Gene Name
AQP1; CHIP28
Organism
Homo sapiens (Human)
Length
269 amino acids
AlphaFoldDB
AF-P29972-F1-model_v4.pdb
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 . Component of the ankyrin-1 complex;a multiprotein complex involved in the stability and shape of the erythrocyte membrane .
Sequence
Ligand Binding
Binding Site
SITE 56: "Substrate discrimination"; SITE 180: "Substrate discrimination"; SITE 189: "Hg(2+)-sensitive residue"; SITE 195: "Substrate discrimination"
Disease
Blood Group;Colton System and Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Location
Detected in erythrocytes (at protein level). 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. Weakly expressed in brain;placenta and liver. Weakly expressed in brain;placenta and liver.
DOI ID
10.1073/pnas.88.24.11110; 10.1016/s0021-9258(18)82322-5; 10.1016/0005-2736(96)00076-4; 10.1038/ng1285; 10.1038/nmeth.1273; 10.1038/nature01782; 10.1101/gr.2596504; 10.1016/s0021-9258(18)38133-x; 10.1126/science.256.5055.385; 10.1016/s0021-9258(18)54108-9; 10.1016/s0021-9258(17)42079-5; 10.1016/j.bbamem.2012.11.030; 10.1002/j.1460-2075.1994.tb06597.x; 10.1038/42512; 10.1038/35036519; 10.1016/s0014-5793(01)02743-0; 10.1073/pnas.98.4.1398; 10.1038/s41594-022-00792-w; 10.1172/jci117418; 10.1126/science.7521540
RefSeq
NP_932766.1 [P29972-1]