SLC17A8

SLC17A8
Identifiers
AliasesSLC17A8, DFNA25, VGLUT3, solute carrier family 17 member 8
External IDsMGI: 3039629 HomoloGene: 13584 GeneCards: SLC17A8
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12q23.1Start100,357,079 bp[1]
End100,422,059 bp[1]
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: 89.57 – 89.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 17 member 8 (SLC17A8) also known as the 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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000179520 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019935 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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.
  • Seal RP; Edwards RH (2006). "The diverse roles of vesicular glutamate transporter 3". Handb Exp Pharmacol (175): 137–50. doi:10.1007/3-540-29784-7_7. 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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