SLC17A8
Vesicular glutamate transporter 3
Also known as: DFNA25, VGLU3_HUMAN, VGLUT3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NDX2
- Gene
- SLC17A8
- Ensembl
- ENSG00000179520
- Chromosome
- 12
- Canonical length
- 589 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Endoplasmic reticulum
OverviewNCBI Gene
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. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Canonical amino-acid sequenceUniProt
589 residues, UniProt reviewed canonical sequence.
>Q8NDX2|SLC17A8
1 MPFKAFDTFK EKILKPGKEG VKNAVGDSLG ILQRKIDGTT EEEDNIELNE EGRPVQTSRP
61 SPPLCDCHCC GLPKRYIIAI MSGLGFCISF GIRCNLGVAI VEMVNNSTVY VDGKPEIQTA
121 QFNWDPETVG LIHGSFFWGY IMTQIPGGFI SNKFAANRVF GAAIFLTSTL NMFIPSAARV
181 HYGCVMCVRI LQGLVEGVTY PACHGMWSKW APPLERSRLA TTSFCGSYAG AVVAMPLAGV
241 LVQYIGWSSV FYIYGMFGII WYMFWLLQAY ECPAAHPTIS NEEKTYIETS IGEGANVVSL
301 SKFSTPWKRF FTSLPVYAII VANFCRSWTF YLLLISQPAY FEEVFGFAIS KVGLLSAVPH
361 MVMTIVVPIG GQLADYLRSR QILTTTAVRK IMNCGGFGME ATLLLVVGFS HTKGVAISFL
421 VLAVGFSGFA ISGFNVNHLD IAPRYASILM GISNGVGTLS GMVCPLIVGA MTRHKTREEW
481 QNVFLIAALV HYSGVIFYGV FASGEKQEWA DPENLSEEKC GIIDQDELAE EIELNHESFA
541 SPKKKMSYGA TSQNCEVQKK EWKGQRGATL DEEELTSYQN EERNFSTISLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC17A8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 4.9 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 4.9 nTPM
- thymus: 1.3 nTPM
- retina: 1.1 nTPM
- basal ganglia: 0.9 nTPM
- hypothalamus: 0.9 nTPM
- amygdala: 0.8 nTPM
Single-cell type
- enterocytes: 46 nCPM
- endometrial ciliated cells: 27 nCPM
- other brain neurons: 18 nCPM
- extravillous trophoblasts: 12 nCPM
- ependymal cells: 12 nCPM
- paneth cells: 12 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 24 nTPM
- midbrain: 19 nTPM
- pons: 14 nTPM
- hypothalamus: 3.5 nTPM
- thalamus: 2.1 nTPM
- choroid plexus: 2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC17A8.
Disease | AllUniProt
Conditions SLC17A8 is implicated in, by any mechanism.
- Deafness, autosomal dominant, 25 (DFNA25) MIM:605583
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 362 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal dominant nonsyndromic hearing loss 25
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.61
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.83
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cochlea development
- L-glutamate import
- L-glutamate transmembrane transport
- monoatomic ion transport
- neural retina development
- neurotransmitter loading into synaptic vesicle
- phosphate ion homeostasis
- positive regulation of glutamate uptake involved in transmission of nerve impulse
- regulation of synapse structure or activity
- sensory perception of sound
- sodium-dependent phosphate transport
- synaptic transmission, glutamatergic
- regulation of acetylcholine uptake
Molecular functions
- chloride channel activity
- L-glutamate transmembrane transporter activity
- L-glutamate uniporter activity
- neurotransmitter transmembrane transporter activity
- sodium:phosphate symporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC17A8 as an antibody target. Whether an autoantibody or antibody against SLC17A8 could matter depends on whether native SLC17A8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC17A8 is annotated at the cell surface, where native SLC17A8 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC17A8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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