AQP7 - aquaporin 7 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2024-12-31
Description
This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]
Enables glycerol channel activity and water channel activity. Involved in glycerol transmembrane transport and water transport. Located in cell-cell junction; cytoplasm; and plasma membrane. Biomarker of Crohn's disease; colitis; morbid obesity; type 2 diabetes mellitus; and ulcerative colitis.
- AQP7L
- AQPap
- GLYCQTL
- aquaporin-7
- aquaglyceroporin-7
- aquaporin adipose
Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient (PMID: 11952783, PMID: 30420639, PMID: 30423801, PMID: 36737436, PMID: 9405233). Could also be permeable to urea (PMID: 9405233). Mediates the efflux of glycerol, formed upon triglyceride hydrolysis, to avoid its accumulation in adipocytes and to make it available to other tissues. In the kidney, mediates the reabsorption of glycerol, preventing its loss in urine, again participating to energy homeostasis. In pancreatic beta cells, it also mediates the efflux of glycerol, regulating its intracellular levels (By similarity).
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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