Sodium/hydrogen exchanger 6: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''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]].<ref name="pmid9507001">{{cite journal | vauthors = Numata M, Petrecca K, Lake N, Orlowski J | title = Identification of a mitochondrial Na+/H+ exchanger | journal = The Journal of Biological Chemistry | volume = 273 | issue = 12 | pages = 6951–9 | date = Mar 1998 | pmid = 9507001 | pmc = | doi = 10.1074/jbc.273.12.6951}}</ref><ref>{{cite journal | vauthors = Brett CL, Wei Y, Donowitz M, Rao R | title = Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria | journal = American Journal of Physiology. Cell Physiology | volume = 282 | issue = 5 | pages = C1031–41 | date = May 2002 | doi = 10.1152/ajpcell.00420.2001 | pmid = 11940519 }}</ref><ref>{{cite journal | vauthors = Deane EC, Ilie AE, Sizdahkhani S, Das Gupta M, Orlowski J, McKinney RA | title = Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation | journal = The Journal of Neuroscience | volume = 33 | issue = 2 | pages = 595–610 | date = Jan 2013 | doi = 10.1523/JNEUROSCI.2583-12.2013 | pmid = 23303939 }}</ref><ref>{{cite journal | vauthors = Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D, van Ijzendoorn SC | title = The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells | journal = Molecular Biology of the Cell | volume = 21 | issue = 7 | pages = 1293–304 | date = Apr 2010 | pmc = 2847532 | doi = 10.1091/mbc.E09-09-0767 | pmid = 20130086 }}</ref>
'''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]].<ref name="pmid9507001">{{cite journal | vauthors = Numata M, Petrecca K, Lake N, Orlowski J | title = Identification of a mitochondrial Na+/H+ exchanger | journal = The Journal of Biological Chemistry | volume = 273 | issue = 12 | pages = 6951–9 | date = Mar 1998 | pmid = 9507001 | pmc = | doi = 10.1074/jbc.273.12.6951}}</ref><ref>{{cite journal | vauthors = Brett CL, Wei Y, Donowitz M, Rao R | title = Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria | journal = American Journal of Physiology. Cell Physiology | volume = 282 | issue = 5 | pages = C1031–41 | date = May 2002 | doi = 10.1152/ajpcell.00420.2001 | pmid = 11940519 }}</ref><ref>{{cite journal | vauthors = Deane EC, Ilie AE, Sizdahkhani S, Das Gupta M, Orlowski J, McKinney RA | title = Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation | journal = The Journal of Neuroscience | volume = 33 | issue = 2 | pages = 595–610 | date = Jan 2013 | doi = 10.1523/JNEUROSCI.2583-12.2013 | pmid = 23303939 | pmc = 6704919 }}</ref><ref>{{cite journal | vauthors = Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D, van Ijzendoorn SC | title = The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells | journal = Molecular Biology of the Cell | volume = 21 | issue = 7 | pages = 1293–304 | date = Apr 2010 | pmc = 2847532 | doi = 10.1091/mbc.E09-09-0767 | pmid = 20130086 }}</ref>


[[Loss of function]] causes [[Christianson syndrome]].<ref name=NORD2015>{{cite web|title=Angelman Syndrome - NORD (National Organization for Rare Disorders)|url=https://rarediseases.org/rare-diseases/angelman-syndrome/|website=NORD (National Organization for Rare Disorders)|accessdate=28 April 2017|date=2015}}</ref>
[[Loss of function]] causes [[Christianson syndrome]].<ref name=NORD2015>{{cite web|title=Angelman Syndrome - NORD (National Organization for Rare Disorders)|url=https://rarediseases.org/rare-diseases/angelman-syndrome/|website=NORD (National Organization for Rare Disorders)|accessdate=28 April 2017|date=2015}}</ref>

Revision as of 08:07, 11 December 2019

SLC9A6
Identifiers
AliasesSLC9A6, MRSA, NHE6, solute carrier family 9 member A6, MRXSCH
External IDsOMIM: 300231; MGI: 2443511; HomoloGene: 55971; GeneCards: SLC9A6; OMA:SLC9A6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

10479

236794

Ensembl

ENSG00000198689

ENSMUSG00000060681

UniProt

Q92581

n/a

RefSeq (mRNA)

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 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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198689 – Ensembl, May 2017
  2. ^ a b c 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  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

  • 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.
  • Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB (Feb 2002). "A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression". The Journal of Biological Chemistry. 277 (5): 3520–9. doi:10.1074/jbc.M110177200. PMID 11707463.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  • Miyazaki E, Sakaguchi M, Wakabayashi S, Shigekawa M, Mihara K (Dec 2001). "NHE6 protein possesses a signal peptide destined for endoplasmic reticulum membrane and localizes in secretory organelles of the cell". The Journal of Biological Chemistry. 276 (52): 49221–7. doi:10.1074/jbc.M106267200. PMID 11641397.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  • Numata M, Orlowski J (May 2001). "Molecular cloning and characterization of a novel (Na+,K+)/H+ exchanger localized to the trans-Golgi network". The Journal of Biological Chemistry. 276 (20): 17387–94. doi:10.1074/jbc.M101319200. PMID 11279194.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  • Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (Oct 1996). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain". DNA Research. 3 (5): 321–9, 341–54. doi:10.1093/dnares/3.5.321. PMID 9039502.

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


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