Aquaporin-6

Protein-coding gene in the species Homo sapiens

AQP6
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1S6E

Identifiers
AliasesAQP6, AQP2L, KID, aquaporin 6
External IDsOMIM: 601383; MGI: 1341204; HomoloGene: 20399; GeneCards: AQP6; OMA:AQP6 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for AQP6
Genomic location for AQP6
Band12q13.12Start49,967,194 bp[1]
End49,977,139 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for AQP6
Genomic location for AQP6
Band15 F1|15 56.13 cMStart99,499,281 bp[2]
End99,503,358 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 15: 99.5 – 99.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000086159 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: Aquaporin 6, kidney specific". Retrieved 2012-04-10.

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.
  • v
  • t
  • e
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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