SLCtables

SLC17A8

Protein name: VGLUT3 Aliases: N/D Substrates: glutamate Transport type: electrogenic, Cl- dependent Tissue and cellular expression: brain (neurons, glia), liver, kidney Subcellular expression: synaptic vesicle Disease: autosomal dominant non-syndromic deafness (DFNA25) Locus: 12q23.1 Sequence ID: NP_001138760.1, NM_001145288.1 NP_647480.1, NM_139319.2 Gene ID: 246213 Splice variants: N/D

VGLU3_HUMAN (UniProt)

Gene names: SLC17A8, VGLUT3
Protein names and data: VGLU3_HUMAN, Full=Vesicular glutamate transporter 3;Short=VGluT3, Full=Solute carrier family 17 member 8; Length: 589 a.a., Mass: 64991 Da,
fasta formatted sequence
Function: Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate
Disease: (OMIM: 605583 607557) Defects in SLC17A8 are the cause of deafness autosomal dominant type 25 (DFNA25) [MIM:605583]. DFNA25 is a form of sensorineural hearing loss. The expression of DFNA25 deafness is variable in terms of onset and rate of progression, with an age- dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged
Cellular location: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane (By similarity). Membrane; Multi-pass membrane protein (Potential). Cell junction, synapse, synaptosome (By similarity)
Tissue specificity: Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus

Database cross-references

UniProt: Q8NDX2
NextBio: 91891
OMIM: 605583 607557
Ensembl: ENST00000392989
GeneCard: GC12P100357
PharmGenUCSF: SLC17A8
Guide to Pharmacology: SLC17A8 (1009)
Vesicular glutamate transporters (VGLUTs) (1009)
HGNC: HGNC:20151

Genetic variants

See also Ensembl:ENST00000392989

8 - 8 T -> I (in dbSNP:rs45610843). VAR_042905 45610843
211 - 211 A -> V (in DFNA25). VAR_054130
220 - 220 A -> T (in dbSNP:rs11568530). VAR_054131 11568530
246 - 246 G -> E (in dbSNP:rs11568543). VAR_054132 11568543