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Sodium/hydrogen exchanger 6

From Wikipedia, the free encyclopedia
(Redirected fromSLC9A6)
Protein-coding gene in the species Homo sapiens
SLC9A6
Identifiers
AliasesSLC9A6, MRSA, NHE6, solute carrier family 9 member A6, MRXSCH
External IDsOMIM:300231;MGI:2443511;HomoloGene:55971;GeneCards:SLC9A6;OMA:SLC9A6 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for SLC9A6
Genomic location for SLC9A6
BandXq26.3Start135,973,841bp[1]
End136,047,269bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for SLC9A6
Genomic location for SLC9A6
BandX|X A5- A6Start55,655,117bp[2]
End55,709,590bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • lateral nuclear group of thalamus

  • middle temporal gyrus

  • pons

  • pars compacta

  • postcentral gyrus

  • superior vestibular nucleus

  • orbitofrontal cortex

  • pars reticulata

  • superior frontal gyrus

  • entorhinal cortex
Top expressed in
  • superior cervical ganglion

  • Region I of hippocampus proper

  • dorsomedial hypothalamic nucleus

  • substantia nigra

  • ventral tegmental area

  • otolith organ

  • central gray substance of midbrain

  • utricle

  • ciliary body

  • ventromedial nucleus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10479

236794

Ensembl

ENSG00000198689

ENSMUSG00000060681

UniProt

Q92581

n/a

RefSeq (mRNA)
NM_001042537
NM_001177651
NM_006359
NM_001330652
NM_001379110

NM_001400909
NM_001400910
NM_001400911
NM_001400912
NM_001400913

NM_172780
NM_001358861

RefSeq (protein)

NP_001036002
NP_001171122
NP_001317581
NP_006350
NP_001366039

n/a

Location (UCSC)Chr X: 135.97 – 136.05 MbChr X: 55.66 – 55.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium/hydrogen exchanger 6 is an integralmembrane protein that in humans is encoded by theSLC9A6gene. It was originally thought to be amitochondrial-targetedprotein, but subsequent studies have localized it to theplasma membrane and recyclingendosomes.[5][6][7][8]

Loss of function causesChristianson syndrome.[9]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000198689 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000060681 –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. ^Numata M, Petrecca K, Lake N, Orlowski J (Mar 1998)."Identification of a mitochondrial Na+/H+ exchanger".The Journal of Biological Chemistry.273 (12):6951–9.doi:10.1074/jbc.273.12.6951.PMID 9507001.
  6. ^Brett CL, Wei Y, Donowitz M, Rao R (May 2002). "Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria".American Journal of Physiology. Cell Physiology.282 (5): C1031–41.doi:10.1152/ajpcell.00420.2001.PMID 11940519.
  7. ^Deane EC, Ilie AE, Sizdahkhani S, Das Gupta M, Orlowski J, McKinney RA (Jan 2013)."Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation".The Journal of Neuroscience.33 (2):595–610.doi:10.1523/JNEUROSCI.2583-12.2013.PMC 6704919.PMID 23303939.
  8. ^Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D, van Ijzendoorn SC (Apr 2010)."The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells".Molecular Biology of the Cell.21 (7):1293–304.doi:10.1091/mbc.E09-09-0767.PMC 2847532.PMID 20130086.
  9. ^"Angelman Syndrome - NORD (National Organization for Rare Disorders)".NORD (National Organization for Rare Disorders). 2015. Retrieved28 April 2017.

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

By group
SLC1–10
(1):
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SLC11–20
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SLC21–30
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SLC31–40
(31):
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SLC41–48
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SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


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