Sodium/hydrogen exchanger 6: Difference between revisions

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{{short description|Protein-coding gene in the species Homo sapiens}}
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'''Sodium/hydrogen exchanger 6''' is a mitochondrial [[protein]] that in humans is encoded by the ''SLC9A6'' [[gene]].<ref name="pmid9507001">{{cite journal | author = Numata M, Petrecca K, Lake N, Orlowski J | title = Identification of a mitochondrial Na+/H+ exchanger | journal = J Biol Chem | volume = 273 | issue = 12 | pages = 6951–9 | date = April 1998 | pmid = 9507001 | pmc = | doi =10.1074/jbc.273.12.6951 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10479| accessdate = }}</ref>


{{Infobox_gene}}
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
'''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 | doi = 10.1074/jbc.273.12.6951| doi-access = free }}</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>
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[[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)|access-date=28 April 2017|date=2015}}</ref>
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==See also==

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== See also ==
* {{MeshName|SLC9A6+protein,+human}}
* {{MeshName|SLC9A6+protein,+human}}


==References==
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{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 | pmid = 11940519 | doi = 10.1152/ajpcell.00420.2001 }}
{{PBB_Further_reading
* {{cite journal | vauthors = Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB | title = A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression | journal = The Journal of Biological Chemistry | volume = 277 | issue = 5 | pages = 3520–9 | date = Feb 2002 | pmid = 11707463 | doi = 10.1074/jbc.M110177200 | doi-access = free }}
| citations =
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
* {{cite journal | vauthors = Miyazaki E, Sakaguchi M, Wakabayashi S, Shigekawa M, Mihara K | title = NHE6 protein possesses a signal peptide destined for endoplasmic reticulum membrane and localizes in secretory organelles of the cell | journal = The Journal of Biological Chemistry | volume = 276 | issue = 52 | pages = 49221–7 | date = Dec 2001 | pmid = 11641397 | doi = 10.1074/jbc.M106267200 | doi-access = free }}
*{{cite journal | author=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=Am. J. Physiol., Cell Physiol. |volume=282 |issue= 5 |pages= C1031–41 |year= 2002 |pmid= 11940519 |doi= 10.1152/ajpcell.00420.2001 }}
* {{cite journal | vauthors = Numata M, Orlowski J | title = Molecular cloning and characterization of a novel (Na+,K+)/H+ exchanger localized to the trans-Golgi network | journal = The Journal of Biological Chemistry | volume = 276 | issue = 20 | pages = 17387–94 | date = May 2001 | pmid = 11279194 | doi = 10.1074/jbc.M101319200 | doi-access = free }}
*{{cite journal |vauthors=Cheng J, Moyer BD, Milewski M, etal |title=A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. |journal=J. Biol. Chem. |volume=277 |issue= 5 |pages= 3520–9 |year= 2002 |pmid= 11707463 |doi= 10.1074/jbc.M110177200 }}
* {{cite journal | vauthors = Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N | title = 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 | journal = DNA Research | volume = 3 | issue = 5 | pages = 321–9, 341–54 | date = Oct 1996 | pmid = 9039502 | doi = 10.1093/dnares/3.5.321 | doi-access = free }}
*{{cite journal |vauthors=Miyazaki E, Sakaguchi M, Wakabayashi S, etal |title=NHE6 protein possesses a signal peptide destined for endoplasmic reticulum membrane and localizes in secretory organelles of the cell. |journal=J. Biol. Chem. |volume=276 |issue= 52 |pages= 49221–7 |year= 2002 |pmid= 11641397 |doi= 10.1074/jbc.M106267200 }}
*{{cite journal | author=Numata M, Orlowski J |title=Molecular cloning and characterization of a novel (Na+,K+)/H+ exchanger localized to the trans-Golgi network. |journal=J. Biol. Chem. |volume=276 |issue= 20 |pages= 17387–94 |year= 2001 |pmid= 11279194 |doi= 10.1074/jbc.M101319200 }}
*{{cite journal |vauthors=Nagase T, Seki N, Ishikawa K, etal |title=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. |journal=DNA Res. |volume=3 |issue= 5 |pages= 321–9, 341–54 |year= 1997 |pmid= 9039502 |doi=10.1093/dnares/3.5.321 }}
}}
{{refend}}
{{refend}}


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{{Membrane transport proteins}}
{{Membrane transport proteins}}

[[Category:Solute carrier family]]
[[Category:Solute carrier family]]



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Latest revision as of 10:04, 1 January 2021

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[edit]

References[edit]

  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.
  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[edit]

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


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