Vesicular glutamate transporter 3

SLC17A8
Identifiers
Aliases	SLC17A8, DFNA25, VGLUT3, solute carrier family 17 member 8
External IDs	OMIM: 607557; MGI: 3039629; HomoloGene: 13584; GeneCards: SLC17A8; OMA:SLC17A8 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	100,422,055 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	89,457,115 bp
RNA expression pattern
	Top expressed in
	testicle; ; gonad; ; oocyte; ; secondary oocyte; ; prefrontal cortex; ; mucosa of transverse colon; ; rectum; ; hypothalamus; ; amygdala; ; caudate nucleus;
	Top expressed in
	organ of Corti; ; vestibular labyrinth; ; pons; ; liver; ; utricle; ; basal forebrain; ; striatum of neuraxis; ; neural layer of retina; ; ileum; ; ampullary crest;
	More reference expression data
	n/a
Gene ontology
Molecular function	symporter activity; L-glutamate transmembrane transporter activity; neurotransmitter transmembrane transporter activity;
Cellular component	cytoplasm; axon terminus; integral component of membrane; multivesicular body; perikaryon; membrane; synapse; excitatory synapse; basal dendrite; pericellular basket; synaptic vesicle membrane; cell junction; soma; dendrite; glial limiting end-foot; neuron projection; cytoplasmic vesicle; apical dendrite; integral component of synaptic vesicle membrane;
Biological process	cochlea development; sodium ion transport; ion transport; hearing; brain development; neurotransmitter transport; neural retina development; L-glutamate transmembrane transport; transmembrane transport; synaptic transmission, glutamatergic; regulation of synapse structure or activity; neurotransmitter loading into synaptic vesicle;
	Sources:Amigo / QuickGO
Orthologs
	246213
	216227
	ENSG00000179520
	ENSMUSG00000019935
	Q8NDX2
	Q8BFU8
	NM_139319; NM_001145288
	NM_182959; NM_001310710
	NP_001138760; NP_647480
	NP_001297639; NP_892004
	Wikidata
View/Edit Human	View/Edit Mouse

Vesicular glutamate transporter 3 (VGLUT3) is a protein that in humans is encoded by the SLC17A8 gene.^[5]

Function

This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft.^[5]

Clinical significance

Mutations in this gene are the cause of autosomal-dominant nonsyndromic deafness type 25 (DFNA25).^[6]^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000179520 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019935 – 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.
^ ^a ^b "Entrez Gene: solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter)".
^ Online Mendelian Inheritance in Man (OMIM): 605583
^ Ruel J, Emery S, Nouvian R, et al. (August 2008). "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice". Am. J. Hum. Genet. 83 (2): 278–92. doi:10.1016/j.ajhg.2008.07.008. PMC 2495073. PMID 18674745.

Greene CC, McMillan PM, Barker SE, et al. (2001). "DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24". Am. J. Hum. Genet. 68 (1): 254–60. doi:10.1086/316925. PMC 1234922. PMID 11115382.
Fremeau RT; Voglmaier S; Seal RP; Edwards RH (2004). "VGLUTs define subsets of excitatory neurons and suggest novel roles for glutamate". Trends Neurosci. 27 (2): 98–103. doi:10.1016/j.tins.2003.11.005. PMID 15102489. S2CID 16619295.
Seal RP; Edwards RH (2006). "The diverse roles of vesicular glutamate transporter 3". Neurotransmitter Transporters. Handbook of Experimental Pharmacology. Vol. 175. pp. 137–50. doi:10.1007/3-540-29784-7_7. ISBN 3-540-29783-9. PMID 16722234.
Ruel J, Emery S, Nouvian R, et al. (2008). "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice". Am. J. Hum. Genet. 83 (2): 278–92. doi:10.1016/j.ajhg.2008.07.008. PMC 2495073. PMID 18674745.
Almqvist J, Huang Y, Laaksonen A, et al. (2007). "Docking and homology modeling explain inhibition of the human vesicular glutamate transporters". Protein Sci. 16 (9): 1819–29. doi:10.1110/ps.072944707. PMC 2206968. PMID 17660252.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gong J, Jellali A, Mutterer J, et al. (2006). "Distribution of vesicular glutamate transporters in rat and human retina". Brain Res. 1082 (1): 73–85. doi:10.1016/j.brainres.2006.01.111. PMID 16516863. S2CID 2868346.
Linke N; Bódi N; Resch BE; et al. (2008). "Developmental pattern of three vesicular glutamate transporters in the myenteric plexus of the human fetal small intestine". Histol. Histopathol. 23 (8): 979–86. PMID 18498073.
Takamori S; Malherbe P; Broger C; Jahn R (2002). "Molecular cloning and functional characterization of human vesicular glutamate transporter 3". EMBO Rep. 3 (8): 798–803. doi:10.1093/embo-reports/kvf159. PMC 1084213. PMID 12151341.

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

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000179520 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000019935 – 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.

[entrez-5] "Entrez Gene: solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter)".

[6] Online Mendelian Inheritance in Man (OMIM): 605583

[pmid18674745-7] Ruel J, Emery S, Nouvian R, et al. (August 2008). "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice". Am. J. Hum. Genet. 83 (2): 278–92. doi:10.1016/j.ajhg.2008.07.008. PMC 2495073. PMID 18674745.

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