Vesicular glutamate transporter 3

Protein-coding gene in the species Homo sapiens
SLC17A8
Identifiers
AliasesSLC17A8, DFNA25, VGLUT3, solute carrier family 17 member 8
External IDsOMIM: 607557; MGI: 3039629; HomoloGene: 13584; GeneCards: SLC17A8; OMA:SLC17A8 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for SLC17A8
Genomic location for SLC17A8
Band12q23.1Start100,357,074 bp[1]
End100,422,055 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for SLC17A8
Genomic location for SLC17A8
Band10|10 C2Start89,409,882 bp[2]
End89,457,115 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
  • 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
  • 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
SpeciesHumanMouse
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 MbChr 10: 89.41 – 89.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179520 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ a b "Entrez Gene: solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter)".
  6. ^ Online Mendelian Inheritance in Man (OMIM): 605583
  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.

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.

  • v
  • t
  • e
By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
  • Na+/Ca2+ exchanger
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
  • Na+-dependent ascorbic acid transporter
(24):
  • Na+/(Ca2+-K+) exchanger
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
  • basolateral iron transporter
SLC41–48
(41):
(42):
(43):
  • Na+-independent, system-L like amino-acid transporter
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter, Cotransporter
  • Na+/K+,Cl
  • Na+/Pi3
  • Na+/Cl
  • Na+/glucose
  • Na+/I
  • Cl/K+
Antiporter (exchanger)
  • Na+/H+
  • Na+/Ca2+
    • Na+/(Ca2+-K+) - Cl/HCO
      3
      (Band 3)
  • Cl-formate
  • Cl-oxalate
see also solute carrier disorders
  • v
  • t
  • e
Transporter
EAATsTooltip Excitatory amino acid transporters
vGluTsTooltip Vesicular glutamate transporters
Enzyme
GAHTooltip Glutamine aminohydrolase (glutaminase)
  • BPTES
  • CB-839
  • DON
ASTTooltip Aspartate aminotransferase
  • 2-Amino-3-butenoic acid
  • AAOA
  • AMB
  • β-DL-Methylene-aspartate
  • Hydrazinosuccinate
ALTTooltip Alanine aminotransferase
  • β-Chloro-L-alanine
  • L-Cycloserine
  • Propargylglycine
GDHTooltip Glutamate dehydrogenase
GSTooltip Glutamine synthetase
GADTooltip Glutamate decarboxylase
See also: Receptor/signaling modulators • Ionotropic glutamate receptor modulators • Metabotropic glutamate receptor modulators • GABA metabolism and transport modulators


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