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
Gene location (Human)
Chr.	Chromosome 12 (human)[1]
End	100,422,055 bp[1]
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)[2]
End	89,621,253 bp[2]
Gene ontology
Molecular function	• symporter activity; • L-glutamate transmembrane transporter activity; • neurotransmitter transporter activity;
Cellular component	• cytoplasm; • axon terminus; • integral component of membrane; • multivesicular body; • perikaryon; • membrane; • synapse; • excitatory synapse; • basilar dendrite; • pericellular basket; • synaptic vesicle membrane; • cell junction; • neuronal cell body; • 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; • sensory perception of sound; • brain development; • neurotransmitter transport; • neural retina development; • L-glutamate 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]

gollark: In practice nobody actually cares, but it's moderately funny.

gollark: C's address space is limited by the spec, yes.

gollark: Indeed.

gollark: I didn't claim you did. This is a relevant point when discussing Turing-completeness.

gollark: No language functionally is due to memory limits, but quirks of the C spec directly limit addressable memory to a finite value while other language specs don't.

References

GRCh38: Ensembl release 89: ENSG00000179520 - Ensembl, May 2017
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.
"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.
Seal RP; Edwards RH (2006). "The diverse roles of vesicular glutamate transporter 3". Handb Exp Pharmacol. Handbook of Experimental Pharmacology. 175 (175): 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. 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.
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.

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[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.

Vesicular glutamate transporter 3

Function

Clinical significance

References

Further reading