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{{Infobox_gene}}
{{GNF_Protein_box
'''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>
| image =
| image_source =
| PDB =
| Name = Solute carrier family 9 (sodium/hydrogen exchanger), member 6
| HGNCid = 11079
| Symbol = SLC9A6
| AltSymbols =; KIAA0267; NHE6
| OMIM = 300231
| ECnumber =
| Homologene = 55971
| MGIid = 2443511
  | GeneAtlas_image1 = PBB_GE_SLC9A6_203909_at_tn.png
| Function = {{GNF_GO|id=GO:0015297 |text = antiporter activity}}{{GNF_GO|id=GO:0015299 |text = solute:hydrogen antiporter activity}}{{GNF_GO|id=GO:0015385 |text = sodium:hydrogen antiporter activity}}{{GNF_GO|id=GO:0031402 |text = sodium ion binding}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005789 |text = endoplasmic reticulum membrane}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}} {{GNF_GO|id=GO:0006885 |text = regulation of pH}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10479
    | Hs_Ensembl = ENSG00000198689
    | Hs_RefseqProtein = NP_001036002
    | Hs_RefseqmRNA = NM_001042537
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 134895264
    | Hs_GenLoc_end = 134957089
    | Hs_Uniprot = Q92581
    | Mm_EntrezGene = 236794
    | Mm_Ensembl = ENSMUSG00000060681
    | Mm_RefseqmRNA = NM_172780
    | Mm_RefseqProtein = NP_766368
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 52956644
    | Mm_GenLoc_end = 53008677
    | Mm_Uniprot = 
  }}
}}
'''Solute carrier family 9 (sodium/hydrogen exchanger), member 6''', also known as '''SLC9A6''', is a human [[gene]].<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>


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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)|accessdate=28 April 2017|date=2015}}</ref>
{{PBB_Summary
| section_title =  
| summary_text =  
}}


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


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 }}
| citations =
* {{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 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
* {{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 }}
*{{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 }}
*{{cite journal | author=Cheng J, Moyer BD, Milewski M, ''et al.'' |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 }}
*{{cite journal | author=Miyazaki E, Sakaguchi M, Wakabayashi S, ''et al.'' |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 | 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 |year= 1998 |pmid= 9507001 |doi=  }}
*{{cite journal  | author=Nagase T, Seki N, Ishikawa K, ''et al.'' |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= }}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}
 
 
{{membrane-protein-stub}}

Latest revision as of 00:14, 6 September 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[1][2][3][4]

Loss of function causes Christianson syndrome.[5]

See also

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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. PMID 23303939.
  4. ↑ 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.
  5. ↑ "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.
  • 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.
  • 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.
  • 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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