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Q8NDX2

- VGLU3_HUMAN

UniProt

Q8NDX2 - VGLU3_HUMAN

Protein

Vesicular glutamate transporter 3

Gene

SLC17A8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    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

    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-SubCell
    4. synaptic vesicle membrane Source: Reactome

    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 nonsyndromic 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.
    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

    MPFKAFDTFK EKILKPGKEG VKNAVGDSLG ILQRKIDGTT EEEDNIELNE    50
    EGRPVQTSRP SPPLCDCHCC GLPKRYIIAI MSGLGFCISF GIRCNLGVAI 100
    VEMVNNSTVY VDGKPEIQTA QFNWDPETVG LIHGSFFWGY IMTQIPGGFI 150
    SNKFAANRVF GAAIFLTSTL NMFIPSAARV HYGCVMCVRI LQGLVEGVTY 200
    PACHGMWSKW APPLERSRLA TTSFCGSYAG AVVAMPLAGV LVQYIGWSSV 250
    FYIYGMFGII WYMFWLLQAY ECPAAHPTIS NEEKTYIETS IGEGANVVSL 300
    SKFSTPWKRF FTSLPVYAII VANFCRSWTF YLLLISQPAY FEEVFGFAIS 350
    KVGLLSAVPH MVMTIVVPIG GQLADYLRSR QILTTTAVRK IMNCGGFGME 400
    ATLLLVVGFS HTKGVAISFL VLAVGFSGFA ISGFNVNHLD IAPRYASILM 450
    GISNGVGTLS GMVCPLIVGA MTRHKTREEW QNVFLIAALV HYSGVIFYGV 500
    FASGEKQEWA DPENLSEEKC GIIDQDELAE EIELNHESFA SPKKKMSYGA 550
    TSQNCEVQKK EWKGQRGATL DEEELTSYQN EERNFSTIS 589
    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 nonsyndromic sensorineural deafness type DFNA.
    PharmGKBi PA223010.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    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

    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 1, 2014
    This is version 104 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