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SLC17A8 solute carrier family 17 member 8 [ Homo sapiens (human) ]

Gene ID: 246213, updated on 13-Feb-2019

Summary

Official Symbol
SLC17A8provided by HGNC
Official Full Name
solute carrier family 17 member 8provided by HGNC
Primary source
HGNC:HGNC:20151
See related
Ensembl:ENSG00000179520 MIM:607557
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNA25; VGLUT3
Summary
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]
Expression
Biased expression in small intestine (RPKM 3.2), brain (RPKM 0.5) and 3 other tissues See more
Orthologs

Genomic context

See SLC17A8 in Genome Data Viewer
Location:
12q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (100357079..100422059)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (100750857..100815837)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DEP domain containing 4 Neighboring gene actin related protein 6 Neighboring gene SCY1 like pseudokinase 2 Neighboring gene nuclear receptor subfamily 1 group H member 4 Neighboring gene growth arrest specific 2 like 3 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal dominant 25 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-02-27)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-02-27)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese.
NHGRI GWA Catalog

Pathways from BioSystems

  • Glutamatergic synapse, organism-specific biosystem (from KEGG)
    Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Glutamatergic synapse, conserved biosystem (from KEGG)
    Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Nicotine addiction, organism-specific biosystem (from KEGG)
    Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Nicotine addiction, conserved biosystem (from KEGG)
    Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Organic anion transporters, organism-specific biosystem (from REACTOME)
    Organic anion transporters, organism-specific biosystemThe SLC17 gene family encode proteins which are organic anion transporters. There are three distinct subfamilies within SLC17; vesicular glutamate transporters (VGLUT1-3 encoded by SLC17A7,6 and 8), ...
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
    Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-glutamate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
cochlea development IEA
Inferred from Electronic Annotation
more info
 
ion transport TAS
Traceable Author Statement
more info
 
neural retina development IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter loading into synaptic vesicle EXP
Inferred from Experiment
more info
PubMed 
neurotransmitter loading into synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter loading into synaptic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
regulation of synapse structure or activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical dendrite IEA
Inferred from Electronic Annotation
more info
 
axon terminus IEA
Inferred from Electronic Annotation
more info
 
basal dendrite IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
excitatory synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glial limiting end-foot IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multivesicular body IEA
Inferred from Electronic Annotation
more info
 
pericellular basket IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
vesicular glutamate transporter 3
Names
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
solute carrier family 17 (vesicular glutamate transporter), member 8

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021175.1 RefSeqGene

    Range
    5001..69981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145288.1NP_001138760.1  vesicular glutamate transporter 3 isoform 2

    See identical proteins and their annotated locations for NP_001138760.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC126308, AJ459241, AK128319, BC143396
    Consensus CDS
    CCDS44957.1
    UniProtKB/Swiss-Prot
    Q8NDX2
    Related
    ENSP00000376715.3, ENST00000392989.3
    Conserved Domains (1) summary
    cl27298
    Location:75463
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]
  2. NM_139319.2NP_647480.1  vesicular glutamate transporter 3 isoform 1

    See identical proteins and their annotated locations for NP_647480.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC126308, AJ459241, AK128319
    Consensus CDS
    CCDS9077.1
    UniProtKB/Swiss-Prot
    Q8NDX2
    Related
    ENSP00000316909.4, ENST00000323346.9
    Conserved Domains (2) summary
    cd06174
    Location:80502
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:75513
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    100357079..100422059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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