AQP1

Description

The AQP1 (aquaporin 1 (Colton blood group)) is a protein-coding gene located on chromosome 7.

AQP1 is a protein encoded by the AQP1 gene in humans. It acts as a water channel, facilitating the movement of water across cell membranes, with its primary function well-characterized in the kidneys. AQP1 is found in various locations, including the kidneys, red blood cells, blood vessels, gastrointestinal tract, sweat glands, lungs, and the central nervous system. In the kidneys, it is present in the proximal tubules, the loop of Henle, and the vasa recta. Its activity in the nervous system is regulated by vasopressin, acting through the AVPR1A receptor. AQP1 belongs to the aquaporin family of proteins, related to the major intrinsic protein (MIP or AQP0). It acts as a water channel and a non-selective cation channel activated by cyclic guanosine monophosphate (cGMP). The protein forms a homotetramer with six transmembrane domains and sites for N-glycosylation. Each AQP1 monomer consists of six transmembrane alpha helices connected by five loops. It shares structural similarities with channel proteins and is abundant in red blood cells and renal tubules.

AQP1 forms a channel that allows water to pass through cell membranes, particularly in red blood cells and the proximal tubules of the kidneys. This process, driven by osmotic gradients, enables efficient water movement across these membranes. AQP1 is also a part of the ankyrin-1 complex, a group of proteins crucial for maintaining the stability and shape of red blood cell membranes.

AQP1 is also known as AQP-CHIP, CHIP28, CO.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing