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) Band 12q23.1 Start 100,357,074 bp End 100,422,055 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10|10 C2 Start 89,409,882 bp End 89,457,115 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 246213 216227 Ensembl ENSG00000179520 ENSMUSG00000019935 UniProt Q8NDX2 Q8BFU8 RefSeq (mRNA) NM_139319 NM_001145288 NM_182959 NM_001310710 RefSeq (protein) NP_001138760 NP_647480 NP_001297639 NP_892004 Location (UCSC) Chr 12: 100.36 – 100.42 Mb Chr 10: 89.41 – 89.46 Mb PubMed search
Wikidata
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Vesicular glutamate transporter 3 (VGLUT3) is a protein that in humans is encoded by the SLC17A8 gene.

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.

Clinical significance

Mutations in this gene are the cause of autosomal-dominant nonsyndromic deafness type 25 (DFNA25).

Further reading

• 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.