Sodium/hydrogen exchanger 6

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]

SLC9A6
Identifiers
Aliases	SLC9A6, MRSA, NHE6, solute carrier family 9 member A6, MRXSCH
External IDs	OMIM: 300231; MGI: 2443511; HomoloGene: 55971; GeneCards: SLC9A6; OMA:SLC9A6 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq26.3 Start 135,973,841 bp[1] End 136,047,269 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A5- A6 Start 55,655,117 bp[2] End 55,709,590 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 10479 236794 Ensembl ENSG00000198689 ENSMUSG00000060681 UniProt Q92581 n/a RefSeq (mRNA) NM_001042537 NM_001177651 NM_006359 NM_001330652 NM_001379110 NM_001400909 NM_001400910 NM_001400911 NM_001400912 NM_001400913 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: 55.66 – 55.71 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Loss of function causes Christianson syndrome.^[9]

See also

• SLC9A6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

References

1. GRCh38: Ensembl release 89: ENSG00000198689 – Ensembl, May 2017
2. 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

• 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.