Aquaporin-6
Protein-coding gene in the species Homo sapiens
AQP6 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | AQP6, AQP2L, KID, aquaporin 6 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 601383; MGI: 1341204; HomoloGene: 20399; GeneCards: AQP6; OMA:AQP6 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Aquaporin-6, (AQP-6) also known as kidney-specific aquaporin is a protein in humans that is encoded by the AQP6 gene.[5]
The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000086159 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043144 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Aquaporin 6, kidney specific". Retrieved 2012-04-10.
External links
- Human AQP6 genome location and AQP6 gene details page in the UCSC Genome Browser.
Further reading
- Ikeda M, Beitz E, Kozono D, Guggino WB, Agre P, Yasui M (Oct 2002). "Characterization of aquaporin-6 as a nitrate channel in mammalian cells. Requirement of pore-lining residue threonine 63". The Journal of Biological Chemistry. 277 (42): 39873–9. doi:10.1074/jbc.M207008200. PMID 12177001.
- Ma T, Yang B, Umenishi F, Verkman AS (Aug 1997). "Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13". Genomics. 43 (3): 387–9. doi:10.1006/geno.1997.4836. PMID 9268644.
- Ishiyama G, Lopez IA, Beltran-Parrazal L, Ishiyama A (Jun 2010). "Immunohistochemical localization and mRNA expression of aquaporins in the macula utriculi of patients with Meniere's disease and acoustic neuroma". Cell and Tissue Research. 340 (3): 407–19. doi:10.1007/s00441-010-0975-7. PMC 2882038. PMID 20461409.
- Wang W, Hart PS, Piesco NP, Lu X, Gorry MC, Hart TC (Mar 2003). "Aquaporin expression in developing human teeth and selected orofacial tissues". Calcified Tissue International. 72 (3): 222–7. doi:10.1007/s00223-002-1014-9. PMID 12522663. S2CID 24539238.
- Yusenko MV, Zubakov D, Kovacs G (2009). "Gene expression profiling of chromophobe renal cell carcinomas and renal oncocytomas by Affymetrix GeneChip using pooled and individual tumours". International Journal of Biological Sciences. 5 (6): 517–27. doi:10.7150/ijbs.5.517. PMC 2726578. PMID 19680475.
- Ma T, Yang B, Kuo WL, Verkman AS (Aug 1996). "cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: evidence for a gene cluster of aquaporins at chromosome locus 12q13". Genomics. 35 (3): 543–50. doi:10.1006/geno.1996.0396. PMID 8812490.
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see also disorders
![]() | This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it. |
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