AQP4

This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]

Description

Aquaporin 4

Tissue specificity

Group enriched (brain, lung)

Subcell location

Plasma membrane, Cell Junctions

Predicted location

Membrane

Protein family

Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

18 (26852043 - 26865771)

Ensembl ID

ENSG00000171885  (ver. 103.38)

Orthologs

Mouse Aqp4: ENSMUSG00000024411

UniProt

P55087

neXtProt

NX_P55087

Human splice variants
Mouse splice variants

Protein structure