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Q8NDX2

- VGLU3_HUMAN

UniProt

Q8NDX2 - VGLU3_HUMAN

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Protein

Vesicular glutamate transporter 3

Gene

SLC17A8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. L-glutamate transmembrane transporter activity Source: Ensembl
  2. symporter activity Source: UniProtKB-KW

GO - Biological processi

  1. ion transport Source: Reactome
  2. neurotransmitter transport Source: UniProtKB-KW
  3. sensory perception of sound Source: UniProtKB-KW
  4. sodium ion transport Source: UniProtKB-KW
  5. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Hearing, Ion transport, Neurotransmitter transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_19372. Organic anion transporters.

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:20151. SLC17A8.

Subcellular locationi

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
  3. neuron projection Source: UniProtKB-KW
  4. synaptic vesicle membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Membrane, Synapse, Synaptosome

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 25 (DFNA25) [MIM:605583]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti211 – 2111A → V in DFNA25. 1 Publication
VAR_054130

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MIMi605583. phenotype.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
PharmGKBiPA223010.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 589589Vesicular glutamate transporter 3PRO_0000331614Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi106 – 1061N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8NDX2.
PRIDEiQ8NDX2.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8NDX2.
CleanExiHS_SLC17A8.
GenevestigatoriQ8NDX2.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000316909.

Structurei

3D structure databases

ProteinModelPortaliQ8NDX2.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7676CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini98 – 13033VesicularSequence AnalysisAdd
BLAST
Topological domaini152 – 1532CytoplasmicSequence Analysis
Topological domaini175 – 1828VesicularSequence Analysis
Topological domaini204 – 22118CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini243 – 2497VesicularSequence Analysis
Topological domaini271 – 31444CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini336 – 35318VesicularSequence AnalysisAdd
BLAST
Topological domaini375 – 39016CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini412 – 4132VesicularSequence Analysis
Topological domaini435 – 44713CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini469 – 48113VesicularSequence AnalysisAdd
BLAST
Topological domaini503 – 58684CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei77 – 9721HelicalSequence AnalysisAdd
BLAST
Transmembranei131 – 15121HelicalSequence AnalysisAdd
BLAST
Transmembranei154 – 17421HelicalSequence AnalysisAdd
BLAST
Transmembranei183 – 20321HelicalSequence AnalysisAdd
BLAST
Transmembranei222 – 24221HelicalSequence AnalysisAdd
BLAST
Transmembranei250 – 27021HelicalSequence AnalysisAdd
BLAST
Transmembranei315 – 33521HelicalSequence AnalysisAdd
BLAST
Transmembranei354 – 37421HelicalSequence AnalysisAdd
BLAST
Transmembranei391 – 41121HelicalSequence AnalysisAdd
BLAST
Transmembranei414 – 43421HelicalSequence AnalysisAdd
BLAST
Transmembranei448 – 46821HelicalSequence AnalysisAdd
BLAST
Transmembranei482 – 50221HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0477.
GeneTreeiENSGT00760000119079.
HOGENOMiHOG000230812.
HOVERGENiHBG008834.
InParanoidiQ8NDX2.
KOiK12302.
OMAiSTSEDKC.
OrthoDBiEOG789C9Z.
PhylomeDBiQ8NDX2.
TreeFamiTF313535.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81T → I.
Corresponds to variant rs45610843 [ dbSNP | Ensembl ].
VAR_042905
Natural varianti211 – 2111A → V in DFNA25. 1 Publication
VAR_054130
Natural varianti220 – 2201A → T.
Corresponds to variant rs11568530 [ dbSNP | Ensembl ].
VAR_054131
Natural varianti246 – 2461G → E.
Corresponds to variant rs11568543 [ dbSNP | Ensembl ].
VAR_054132

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei302 – 35150Missing in isoform 2. 1 PublicationVSP_033265Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q8NDX2-2]
uc010svi.2. human. [Q8NDX2-1]

Polymorphism databases

DMDMi74723817.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS44957.1. [Q8NDX2-2 ]
CCDS9077.1. [Q8NDX2-1 ]
RefSeqi NP_001138760.1. NM_001145288.1. [Q8NDX2-2 ]
NP_647480.1. NM_139319.2. [Q8NDX2-1 ]
UniGenei Hs.116871.

3D structure databases

ProteinModelPortali Q8NDX2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000316909.

Protein family/group databases

TCDBi 2.A.1.14.32. the major facilitator superfamily (mfs).

Polymorphism databases

DMDMi 74723817.

Proteomic databases

PaxDbi Q8NDX2.
PRIDEi Q8NDX2.

Protocols and materials databases

DNASUi 246213.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000323346 ; ENSP00000316909 ; ENSG00000179520 . [Q8NDX2-1 ]
ENST00000392989 ; ENSP00000376715 ; ENSG00000179520 . [Q8NDX2-2 ]
GeneIDi 246213.
KEGGi hsa:246213.
UCSCi uc009ztx.3. human. [Q8NDX2-2 ]
uc010svi.2. human. [Q8NDX2-1 ]

Organism-specific databases

CTDi 246213.
GeneCardsi GC12P100750.
GeneReviewsi SLC17A8.
HGNCi HGNC:20151. SLC17A8.
MIMi 605583. phenotype.
607557. gene.
neXtProti NX_Q8NDX2.
Orphaneti 90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
PharmGKBi PA223010.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0477.
GeneTreei ENSGT00760000119079.
HOGENOMi HOG000230812.
HOVERGENi HBG008834.
InParanoidi Q8NDX2.
KOi K12302.
OMAi STSEDKC.
OrthoDBi EOG789C9Z.
PhylomeDBi Q8NDX2.
TreeFami TF313535.

Enzyme and pathway databases

Reactomei REACT_19372. Organic anion transporters.

Miscellaneous databases

GeneWikii SLC17A8.
GenomeRNAii 246213.
NextBioi 91891.
PROi Q8NDX2.
SOURCEi Search...

Gene expression databases

Bgeei Q8NDX2.
CleanExi HS_SLC17A8.
Genevestigatori Q8NDX2.

Family and domain databases

InterProi IPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view ]
Pfami PF07690. MFS_1. 1 hit.
[Graphical view ]
SUPFAMi SSF103473. SSF103473. 1 hit.
PROSITEi PS50850. MFS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and functional characterization of human vesicular glutamate transporter 3."
    Takamori S., Malherbe P., Broger C., Jahn R.
    EMBO Rep. 3:798-803(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Thymus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Heart and Lung.
  5. "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice."
    Ruel J., Emery S., Nouvian R., Bersot T., Amilhon B., Van Rybroek J.M., Rebillard G., Lenoir M., Eybalin M., Delprat B., Sivakumaran T.A., Giros B., El Mestikawy S., Moser T., Smith R.J.H., Lesperance M.M., Puel J.-L.
    Am. J. Hum. Genet. 83:278-292(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA25 VAL-211.

Entry informationi

Entry nameiVGLU3_HUMAN
AccessioniPrimary (citable) accession number: Q8NDX2
Secondary accession number(s): B3KXZ6, B7ZKV4, Q17RQ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 105 of the entry and version 1 of the sequence. [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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3