Aliases for AQP1 Gene
External Ids for AQP1 Gene
Previous HGNC Symbols for AQP1 Gene
Previous GeneCards Identifiers for AQP1 Gene
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]
GeneCards Summary for AQP1 Gene
AQP1 (Aquaporin 1 (Colton Blood Group)) is a Protein Coding gene. Diseases associated with AQP1 include Blood Group, Colton System and Central Pontine Myelinolysis. Among its related pathways are Erythrocytes take up carbon dioxide and release oxygen and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and potassium channel activity. An important paralog of this gene is ENSG00000250424.
UniProtKB/Swiss-Prot Summary for AQP1 Gene
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.
Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.