Aqp6

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)
End	49,977,139 bp
Gene location ( Mouse)
Chr.	Chromosome 15 (mouse)
End	99,503,358 bp
RNA expression pattern
	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
	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
	363
	11831
	ENSG00000086159
	ENSMUSG00000043144
	Q13520
	Q8C4A0
	NM_053286; NM_001652
	NM_175087
	NP_001643
	NP_780296
	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

^ ^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.

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.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000086159 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Aquaporin 6, kidney specific". Retrieved 2012-04-10.

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References

External links

Further reading