Sodium/hydrogen exchanger 6

SLC9A6
Identifiers
Aliases	SLC9A6, MRSA, NHE6, solute carrier family 9 member A6, MRXSCH
External IDs	OMIM: 300231; MGI: 2443511; GeneCards: SLC9A6
Gene location (Human)
Chr.	X chromosome (human)
End	136,047,269 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	55,709,590 bp
RNA expression pattern
	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
	More reference expression data
Gene ontology
Molecular function	solute:proton antiporter activity; antiporter activity; potassium:proton antiporter activity; sodium:proton antiporter activity;
Cellular component	axon terminus; integral component of membrane; recycling endosome; endosome; late endosome; early endosome membrane; endoplasmic reticulum membrane; intracellular membrane-bounded organelle; membrane; axonal spine; plasma membrane; synapse; recycling endosome membrane; dendrite; early endosome; mitochondrion; endosome membrane; cytoplasmic vesicle;
Biological process	neuron projection morphogenesis; dendrite extension; sodium ion transport; proton transmembrane transport; synapse organization; cation transport; ion transport; brain-derived neurotrophic factor receptor signaling pathway; dendritic spine development; regulation of neurotrophin TRK receptor signaling pathway; axon extension; regulation of pH; potassium ion transmembrane transport; transmembrane transport; regulation of intracellular pH; sodium ion import across plasma membrane; anion transmembrane transport; sodium ion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	10479
	236794
	ENSG00000198689
	ENSMUSG00000060681
	Q92581
	n/a
NM_001042537; NM_001177651; NM_006359; NM_001330652; NM_001379110;
	NM_001400909; NM_001400910; NM_001400911; NM_001400912; NM_001400913
	NM_172780; NM_001358861
	NP_001036002; NP_001171122; NP_001317581; NP_006350; NP_001366039
	n/a
	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.

Loss of function causes Christianson syndrome.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000198689 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000060681 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ "Angelman Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2015. Retrieved 28 April 2017.

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. hdl:20.500.14905/81148. 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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000198689 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9507001-5] 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.

[NORD2015-9] "Angelman Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2015. Retrieved 28 April 2017.

Sodium/hydrogen exchanger 6

See also

References

Further reading