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Protein

Vesicular glutamate transporter 3

Gene

SLC17A8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate.1 Publication

GO - Molecular functioni

  • L-glutamate transmembrane transporter activity Source: GO_Central
  • neurotransmitter transporter activity Source: GO_Central
  • symporter activity Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Biological processHearing, Ion transport, Neurotransmitter transport, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-428643 Organic anion transporters
R-HSA-5619076 Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)

Protein family/group databases

TCDBi2.A.1.14.32 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Vesicular glutamate transporter 3
Short name:
VGluT3
Alternative name(s):
Solute carrier family 17 member 8
Gene namesi
Name:SLC17A8
Synonyms:VGLUT3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000179520.10
HGNCiHGNC:20151 SLC17A8
MIMi607557 gene
neXtProtiNX_Q8NDX2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 76CytoplasmicSequence analysisAdd BLAST76
Transmembranei77 – 97HelicalSequence analysisAdd BLAST21
Topological domaini98 – 130VesicularSequence analysisAdd BLAST33
Transmembranei131 – 151HelicalSequence analysisAdd BLAST21
Topological domaini152 – 153CytoplasmicSequence analysis2
Transmembranei154 – 174HelicalSequence analysisAdd BLAST21
Topological domaini175 – 182VesicularSequence analysis8
Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Topological domaini204 – 221CytoplasmicSequence analysisAdd BLAST18
Transmembranei222 – 242HelicalSequence analysisAdd BLAST21
Topological domaini243 – 249VesicularSequence analysis7
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Topological domaini271 – 314CytoplasmicSequence analysisAdd BLAST44
Transmembranei315 – 335HelicalSequence analysisAdd BLAST21
Topological domaini336 – 353VesicularSequence analysisAdd BLAST18
Transmembranei354 – 374HelicalSequence analysisAdd BLAST21
Topological domaini375 – 390CytoplasmicSequence analysisAdd BLAST16
Transmembranei391 – 411HelicalSequence analysisAdd BLAST21
Topological domaini412 – 413VesicularSequence analysis2
Transmembranei414 – 434HelicalSequence analysisAdd BLAST21
Topological domaini435 – 447CytoplasmicSequence analysisAdd BLAST13
Transmembranei448 – 468HelicalSequence analysisAdd BLAST21
Topological domaini469 – 481VesicularSequence analysisAdd BLAST13
Transmembranei482 – 502HelicalSequence analysisAdd BLAST21
Topological domaini503 – 586CytoplasmicSequence analysisAdd BLAST84

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Membrane, Synapse, Synaptosome

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 25 (DFNA25)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA25 expression 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.
See also OMIM:605583
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054130211A → V in DFNA25. 1 PublicationCorresponds to variant dbSNP:rs121918339EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi246213
GeneReviewsiSLC17A8
MalaCardsiSLC17A8
MIMi605583 phenotype
OpenTargetsiENSG00000179520
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA223010

Polymorphism and mutation databases

BioMutaiSLC17A8
DMDMi74723817

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003316141 – 589Vesicular glutamate transporter 3Add BLAST589

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi106N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8NDX2
PeptideAtlasiQ8NDX2
PRIDEiQ8NDX2
ProteomicsDBi73077
73078 [Q8NDX2-2]

Expressioni

Tissue specificityi

Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus.1 Publication

Gene expression databases

BgeeiENSG00000179520 Expressed in 51 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_SLC17A8
GenevisibleiQ8NDX2 HS

Organism-specific databases

HPAiCAB079058

Interactioni

Protein-protein interaction databases

BioGridi128880, 2 interactors
IntActiQ8NDX2, 3 interactors
STRINGi9606.ENSP00000316909

Structurei

3D structure databases

ProteinModelPortaliQ8NDX2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2532 Eukaryota
ENOG410XPWC LUCA
GeneTreeiENSGT00760000119079
HOGENOMiHOG000230812
HOVERGENiHBG008834
InParanoidiQ8NDX2
KOiK12302
OMAiWRGQRGV
OrthoDBiEOG091G06DG
PhylomeDBiQ8NDX2
TreeFamiTF313535

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8NDX2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPFKAFDTFK EKILKPGKEG VKNAVGDSLG ILQRKIDGTT EEEDNIELNE
60 70 80 90 100
EGRPVQTSRP SPPLCDCHCC GLPKRYIIAI MSGLGFCISF GIRCNLGVAI
110 120 130 140 150
VEMVNNSTVY VDGKPEIQTA QFNWDPETVG LIHGSFFWGY IMTQIPGGFI
160 170 180 190 200
SNKFAANRVF GAAIFLTSTL NMFIPSAARV HYGCVMCVRI LQGLVEGVTY
210 220 230 240 250
PACHGMWSKW APPLERSRLA TTSFCGSYAG AVVAMPLAGV LVQYIGWSSV
260 270 280 290 300
FYIYGMFGII WYMFWLLQAY ECPAAHPTIS NEEKTYIETS IGEGANVVSL
310 320 330 340 350
SKFSTPWKRF FTSLPVYAII VANFCRSWTF YLLLISQPAY FEEVFGFAIS
360 370 380 390 400
KVGLLSAVPH MVMTIVVPIG GQLADYLRSR QILTTTAVRK IMNCGGFGME
410 420 430 440 450
ATLLLVVGFS HTKGVAISFL VLAVGFSGFA ISGFNVNHLD IAPRYASILM
460 470 480 490 500
GISNGVGTLS GMVCPLIVGA MTRHKTREEW QNVFLIAALV HYSGVIFYGV
510 520 530 540 550
FASGEKQEWA DPENLSEEKC GIIDQDELAE EIELNHESFA SPKKKMSYGA
560 570 580
TSQNCEVQKK EWKGQRGATL DEEELTSYQN EERNFSTIS
Length:589
Mass (Da):64,991
Last modified:October 1, 2002 - v1
Checksum:iE74DDC91495F8775
GO
Isoform 2 (identifier: Q8NDX2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     302-351: Missing.

Note: No experimental confirmation available.
Show »
Length:539
Mass (Da):59,077
Checksum:i5B73AD50FF5DC6F2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0429058T → I. Corresponds to variant dbSNP:rs45610843EnsemblClinVar.1
Natural variantiVAR_054130211A → V in DFNA25. 1 PublicationCorresponds to variant dbSNP:rs121918339EnsemblClinVar.1
Natural variantiVAR_054131220A → T. Corresponds to variant dbSNP:rs11568530EnsemblClinVar.1
Natural variantiVAR_054132246G → E. Corresponds to variant dbSNP:rs11568543Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033265302 – 351Missing in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ459241 mRNA Translation: CAD30553.1
AK128319 mRNA Translation: BAG54658.1
CH471054 Genomic DNA Translation: EAW97637.1
BC117229 mRNA Translation: AAI17230.1
BC143396 mRNA Translation: AAI43397.1
CCDSiCCDS44957.1 [Q8NDX2-2]
CCDS9077.1 [Q8NDX2-1]
RefSeqiNP_001138760.1, NM_001145288.1 [Q8NDX2-2]
NP_647480.1, NM_139319.2 [Q8NDX2-1]
UniGeneiHs.116871

Genome annotation databases

EnsembliENST00000323346; ENSP00000316909; ENSG00000179520 [Q8NDX2-1]
ENST00000392989; ENSP00000376715; ENSG00000179520 [Q8NDX2-2]
GeneIDi246213
KEGGihsa:246213
UCSCiuc009ztx.4 human [Q8NDX2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ459241 mRNA Translation: CAD30553.1
AK128319 mRNA Translation: BAG54658.1
CH471054 Genomic DNA Translation: EAW97637.1
BC117229 mRNA Translation: AAI17230.1
BC143396 mRNA Translation: AAI43397.1
CCDSiCCDS44957.1 [Q8NDX2-2]
CCDS9077.1 [Q8NDX2-1]
RefSeqiNP_001138760.1, NM_001145288.1 [Q8NDX2-2]
NP_647480.1, NM_139319.2 [Q8NDX2-1]
UniGeneiHs.116871

3D structure databases

ProteinModelPortaliQ8NDX2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128880, 2 interactors
IntActiQ8NDX2, 3 interactors
STRINGi9606.ENSP00000316909

Protein family/group databases

TCDBi2.A.1.14.32 the major facilitator superfamily (mfs)

Polymorphism and mutation databases

BioMutaiSLC17A8
DMDMi74723817

Proteomic databases

PaxDbiQ8NDX2
PeptideAtlasiQ8NDX2
PRIDEiQ8NDX2
ProteomicsDBi73077
73078 [Q8NDX2-2]

Protocols and materials databases

DNASUi246213
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323346; ENSP00000316909; ENSG00000179520 [Q8NDX2-1]
ENST00000392989; ENSP00000376715; ENSG00000179520 [Q8NDX2-2]
GeneIDi246213
KEGGihsa:246213
UCSCiuc009ztx.4 human [Q8NDX2-1]

Organism-specific databases

CTDi246213
DisGeNETi246213
EuPathDBiHostDB:ENSG00000179520.10
GeneCardsiSLC17A8
GeneReviewsiSLC17A8
HGNCiHGNC:20151 SLC17A8
HPAiCAB079058
MalaCardsiSLC17A8
MIMi605583 phenotype
607557 gene
neXtProtiNX_Q8NDX2
OpenTargetsiENSG00000179520
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA223010
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2532 Eukaryota
ENOG410XPWC LUCA
GeneTreeiENSGT00760000119079
HOGENOMiHOG000230812
HOVERGENiHBG008834
InParanoidiQ8NDX2
KOiK12302
OMAiWRGQRGV
OrthoDBiEOG091G06DG
PhylomeDBiQ8NDX2
TreeFamiTF313535

Enzyme and pathway databases

ReactomeiR-HSA-428643 Organic anion transporters
R-HSA-5619076 Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)

Miscellaneous databases

GeneWikiiSLC17A8
GenomeRNAii246213
PROiPR:Q8NDX2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179520 Expressed in 51 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_SLC17A8
GenevisibleiQ8NDX2 HS

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiVGLU3_HUMAN
AccessioniPrimary (citable) accession number: Q8NDX2
Secondary accession number(s): B3KXZ6, B7ZKV4, Q17RQ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 138 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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