Aquaporin-6

AQP6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1S6E
Identifiers
Aliases	AQP6 , AQP2L, KID, aquaporin 6
External IDs	OMIM: 601383; MGI: 1341204; HomoloGene: 20399; GeneCards: AQP6; OMA:AQP6 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.12 Start 49,967,194 bp [1] End 49,977,139 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15 F1|15 56.13 cM Start 99,499,281 bp [2] End 99,503,358 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla orbitofrontal cortex kidney tubule endothelial cell inferior ganglion of vagus nerve human kidney thalamus subthalamic nucleus ventral tegmental area gonad Top expressed in cerebellar vermis lumbar subsegment of spinal cord lobe of cerebellum habenula human kidney inner renal medulla right kidney Transitional epithelium of renal pelvis embryo dorsal tegmental nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function nitrate transmembrane transporter activity water channel activity channel activity Cellular component integral component of membrane cytoplasmic vesicle integral component of plasma membrane apical plasma membrane membrane cytoplasmic vesicle membrane plasma membrane Biological process nitrate transport excretion odontogenesis ion transmembrane transport transmembrane transport water transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 363 11831 Ensembl ENSG00000086159 ENSMUSG00000043144 UniProt Q13520 Q8C4A0 RefSeq (mRNA) NM_053286 NM_001652 NM_175087 RefSeq (protein) NP_001643 NP_780296 Location (UCSC) Chr 12: 49.97 – 49.98 Mb Chr 15: 99.5 – 99.5 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000086159 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000043144 – 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. "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.