Sodium/hydrogen exchanger 6

Last updated
SLC9A6
Identifiers
Aliases SLC9A6 , MRSA, NHE6, solute carrier family 9 member A6
External IDs OMIM: 300231 MGI: 2443511 HomoloGene: 55971 GeneCards: SLC9A6
Gene location (Human)
Ideogram human chromosome X.svg
Chr. X chromosome (human) [1]
Human chromosome X ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band Xq26.3Start135,973,841 bp [1]
End136,047,269 bp [1]
RNA expression pattern
PBB GE SLC9A6 203909 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001042537
NM_001177651
NM_006359
NM_001330652
NM_001379110

Contents

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 Mb Chr X: 56.61 – 56.66 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sodium/hydrogen exchanger 6 is an integral membrane protein that in humans is encoded by the SLC9A6 gene. It was originally thought to be a mitochondrial-targeted protein, but subsequent studies have localized it to the plasma membrane and recycling endosomes. [5] [6] [7] [8]

Loss of function causes Christianson syndrome. [9]

See also

Related Research Articles

Sodium–hydrogen antiporter 1

The sodium-hydrogen antiporter 1 (NHE-1) also known as sodium/hydrogen exchanger 1 or SLC9A1 is an isoform of sodium–hydrogen antiporter that in humans is encoded by the SLC9A1 gene.

Sodium-hydrogen antiporter 3 regulator 1

Sodium-hydrogen antiporter 3 regulator 1 is a regulator of Sodium-hydrogen antiporter 3. It is encoded by the gene SLC9A3R1. It is also known as ERM Binding Protein 50 (EBP50) or Na+/H+ Exchanger Regulatory Factor (NHERF1). It is believed to interact via long-range allostery, involving significant protein dynamics.

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CLCN5

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Sodium-hydrogen exchange regulatory cofactor 2

Sodium-hydrogen exchange regulatory cofactor NHE-RF2 (NHERF-2) also known as tyrosine kinase activator protein 1 (TKA-1) or SRY-interacting protein 1 (SIP-1) is a protein that in humans is encoded by the SLC9A3R2 gene.

Sodium–hydrogen antiporter 3

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STX7

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STX6

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SCAMP1

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VAMP3

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PIKFYVE

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Calcineurin B homologous protein 1

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RAB11FIP5

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VAMP4

Vesicle-associated membrane protein 4 is a protein that in humans is encoded by the VAMP4 gene.

MYO5B

Myosin-Vb, a myosin V type protein, is encoded by the MYO5B gene in humans.

ZFYVE16

Zinc finger FYVE domain-containing protein 16 is a protein that in humans is encoded by the ZFYVE16 gene.

Sodium/hydrogen exchanger 5

Sodium/hydrogen exchanger 5 is a protein that in humans is encoded by the SLC9A5 gene.

STX1B

Syntaxin-1B is a protein that in humans is encoded by the STX1B gene.

Star related lipid transfer domain containing 3

StAR related lipid transfer domain containing 3(STARD3) is a protein that in humans is encoded by the STARD3 gene. STARD3 also known as metastatic lymph node 64 protein (MLN64) is a late endosomal integral membrane protein involved in cholesterol transport. STARD3 creates membrane contact sites between the endoplasmic reticulum and late endosomes where it moves cholesterol.

Rajini Rao is an Indian Physiologist and Professor at Johns Hopkins University School of Medicine. Rao is also the Director of the Graduate Program in Cellular and Molecular Medicine and is the principal investigator of the Rao Lab. Rao discovers novel ion channels and explores their roles in human health and disease. The Rao Lab identified the oncogenic role of SPCA2 in breast cancer through an aberrant method of signalling to calcium channels.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198689 - Ensembl, May 2017
  2. 1 2 3 GRCm38: 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. Retrieved 28 April 2017.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.