AQP1 Gene

The AQP1 gene (AQP1 stands for aquaporin-1 gene also Colton Blood Group) is a protein coding gene located on chromosome 7p14.3. The AQP1 gene encodes a small integral membrane protein, aquaporin-1, with six bilayer-spanning domains that functions as a water channel protein (see also under Aquaporins and their functions in skin and lungs; see also King LS et al 2002). The aquaporin 1 protein forms a water-specific channel that provides high water permeability to the plasma membranes of erythrocytes and proximal tubules of the kidney, thereby allowing the movement of water toward an osmotic gradient. The aquaporin 1 gene is a possible candidate for disorders associated with ocular fluid balance disturbance.

Diseases or functions associated with AQP1 include:

• Blood groups (see below Colton system)
• and
• obstructive hydrocephalus.

Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. To date, 13 AQP isoforms (AQP0-AQP12) have been identified in humans and rodents.

1. King LS et al (2002) Decreased pulmonary vascular permeability in aquaporin-1-null humans. Proc Natl Acad Sci U S A 99:1059-1063.
2. Thiagarajah JR et al (2002) Aquaporin deletion in mice reduces corneal water permeability and delays restoration of transparency after swelling. J Biol Chem 277:19139-19144.