Aquaporin 1

Aquaporin 1 is a protein that in humans is encoded by the AQP1 gene.

AQP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAQP1, AQP-CHIP, CHIP28, CO, aquaporin 1 (Colton blood group)
External IDsOMIM: 107776 MGI: 103201 HomoloGene: 68051 GeneCards: AQP1
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7p14.3Start30,911,694 bp[1]
End30,925,517 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

358

11826

Ensembl

ENSG00000240583

ENSMUSG00000004655

UniProt

P29972
Q6JSD8
Q6JSD7

Q02013

RefSeq (mRNA)

NM_007472

RefSeq (protein)

NP_001316801
NP_932766

NP_031498

Location (UCSC)Chr 7: 30.91 – 30.93 MbChr 6: 55.34 – 55.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AQP1 is a widely expressed water channel, whose physiological function has been most thoroughly characterized in the kidney. It is found in the basolateral and apical plasma membranes of the proximal tubules, the descending limb of the loop of Henle, and in the descending portion of the vasa recta. Additionally, it is found in red blood cells, vascular endothelium, the gastrointestinal tract, sweat glands, and lungs.

It is not regulated by vasopressin (ADH).

Function

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 both a molecular water channel protein and as a non-selective cation channel gated by cyclic guanosine monophosphate (cGMP).[5] It is a homotetramer with six bilayer spanning domains and N-glycosylation sites. The AQP1 monomer consists of six transmembrane alpha helices that are connected by five loops (A to E).[6] 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.[7]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000240583 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000004655 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Boassa, Daniela; Yool, Andrea J (15 October 2003). "Single amino acids in the carboxyl terminal domain of aquaporin-1 contribute to cGMP-dependent ion channel activation". BMC Physiology. 3: 12. doi:10.1186/1472-6793-3-12. PMC 269983. PMID 14561230.
  6. Kong, Yifei; Ma, Jianpeng (4 December 2001). "Dynamic mechanisms of the membrane water channel aquaporin-1 (AQP1)". Proceedings of the National Academy of Sciences of the United States of America. 98 (25): 14345–14349. Bibcode:2001PNAS...9814345K. doi:10.1073/pnas.251507998. PMC 64684. PMID 11717407.
  7. "Entrez Gene: AQP1 aquaporin 1 (Colton blood group)".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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