Aliases for AQP1 Gene
External Ids for AQP1 Gene
Previous HGNC Symbols for AQP1 Gene
Previous GeneCards Identifiers for AQP1 Gene
Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
GeneCards Summary for AQP1 Gene
AQP1 (Aquaporin 1 (Colton Blood Group)) is a Protein Coding gene. Diseases associated with AQP1 include central pontine myelinolysis and hydrarthrosis. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Metabolism. GO annotations related to this gene include transporter activity and potassium channel activity. An important paralog of this gene is MIP.
UniProtKB/Swiss-Prot 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.