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Q8NDX2 (VGLU3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vesicular glutamate transporter 3

Short name=VGluT3
Alternative name(s):
Solute carrier family 17 member 8
Gene names
Name:SLC17A8
Synonyms:VGLUT3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length589 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane By similarity. Membrane; Multi-pass membrane protein Potential. Cell junctionsynapsesynaptosome By similarity.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NDX2-1)

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.
Isoform 2 (identifier: Q8NDX2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     302-351: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 589589Vesicular glutamate transporter 3
PRO_0000331614

Regions

Topological domain1 – 7676Cytoplasmic Potential
Transmembrane77 – 9721Helical; Potential
Topological domain98 – 13033Vesicular Potential
Transmembrane131 – 15121Helical; Potential
Topological domain152 – 1532Cytoplasmic Potential
Transmembrane154 – 17421Helical; Potential
Topological domain175 – 1828Vesicular Potential
Transmembrane183 – 20321Helical; Potential
Topological domain204 – 22118Cytoplasmic Potential
Transmembrane222 – 24221Helical; Potential
Topological domain243 – 2497Vesicular Potential
Transmembrane250 – 27021Helical; Potential
Topological domain271 – 31444Cytoplasmic Potential
Transmembrane315 – 33521Helical; Potential
Topological domain336 – 35318Vesicular Potential
Transmembrane354 – 37421Helical; Potential
Topological domain375 – 39016Cytoplasmic Potential
Transmembrane391 – 41121Helical; Potential
Topological domain412 – 4132Vesicular Potential
Transmembrane414 – 43421Helical; Potential
Topological domain435 – 44713Cytoplasmic Potential
Transmembrane448 – 46821Helical; Potential
Topological domain469 – 48113Vesicular Potential
Transmembrane482 – 50221Helical; Potential
Topological domain503 – 58684Cytoplasmic Potential

Amino acid modifications

Glycosylation1061N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence302 – 35150Missing in isoform 2.
VSP_033265
Natural variant81T → I.
Corresponds to variant rs45610843 [ dbSNP | Ensembl ].
VAR_042905
Natural variant2111A → V in DFNA25. Ref.5
VAR_054130
Natural variant2201A → T.
Corresponds to variant rs11568530 [ dbSNP | Ensembl ].
VAR_054131
Natural variant2461G → E.
Corresponds to variant rs11568543 [ dbSNP | Ensembl ].
VAR_054132

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: E74DDC91495F8775

FASTA58964,991
        10         20         30         40         50         60 
MPFKAFDTFK EKILKPGKEG VKNAVGDSLG ILQRKIDGTT EEEDNIELNE EGRPVQTSRP 

        70         80         90        100        110        120 
SPPLCDCHCC GLPKRYIIAI MSGLGFCISF GIRCNLGVAI VEMVNNSTVY VDGKPEIQTA 

       130        140        150        160        170        180 
QFNWDPETVG LIHGSFFWGY IMTQIPGGFI SNKFAANRVF GAAIFLTSTL NMFIPSAARV 

       190        200        210        220        230        240 
HYGCVMCVRI LQGLVEGVTY PACHGMWSKW APPLERSRLA TTSFCGSYAG AVVAMPLAGV 

       250        260        270        280        290        300 
LVQYIGWSSV FYIYGMFGII WYMFWLLQAY ECPAAHPTIS NEEKTYIETS IGEGANVVSL 

       310        320        330        340        350        360 
SKFSTPWKRF FTSLPVYAII VANFCRSWTF YLLLISQPAY FEEVFGFAIS KVGLLSAVPH 

       370        380        390        400        410        420 
MVMTIVVPIG GQLADYLRSR QILTTTAVRK IMNCGGFGME ATLLLVVGFS HTKGVAISFL 

       430        440        450        460        470        480 
VLAVGFSGFA ISGFNVNHLD IAPRYASILM GISNGVGTLS GMVCPLIVGA MTRHKTREEW 

       490        500        510        520        530        540 
QNVFLIAALV HYSGVIFYGV FASGEKQEWA DPENLSEEKC GIIDQDELAE EIELNHESFA 

       550        560        570        580 
SPKKKMSYGA TSQNCEVQKK EWKGQRGATL DEEELTSYQN EERNFSTIS 

« Hide

Isoform 2 [UniParc].

Checksum: 5B73AD50FF5DC6F2
Show »

FASTA53959,077

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001138760.1. NM_001145288.1.
NP_647480.1. NM_139319.2.
UniGeneHs.116871.

3D structure databases

ProteinModelPortalQ8NDX2.
SMRQ8NDX2. Positions 220-257, 345-377.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000316909.

Protein family/group databases

TCDB2.A.1.14.32. the major facilitator superfamily (mfs).

Polymorphism databases

DMDM74723817.

Proteomic databases

PaxDbQ8NDX2.
PRIDEQ8NDX2.

Protocols and materials databases

DNASU246213.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323346; ENSP00000316909; ENSG00000179520. [Q8NDX2-1]
ENST00000392989; ENSP00000376715; ENSG00000179520. [Q8NDX2-2]
GeneID246213.
KEGGhsa:246213.
UCSCuc009ztx.3. human. [Q8NDX2-2]
uc010svi.2. human. [Q8NDX2-1]

Organism-specific databases

CTD246213.
GeneCardsGC12P100750.
HGNCHGNC:20151. SLC17A8.
MIM605583. phenotype.
607557. gene.
neXtProtNX_Q8NDX2.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBPA223010.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOGENOMHOG000230812.
HOVERGENHBG008834.
InParanoidQ8NDX2.
KOK12302.
OMAYVDVEWM.
OrthoDBEOG789C9Z.
PhylomeDBQ8NDX2.
TreeFamTF313535.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.
REACT_19419. Amino acid and oligopeptide SLC transporters.

Gene expression databases

BgeeQ8NDX2.
CleanExHS_SLC17A8.
GenevestigatorQ8NDX2.

Family and domain databases

InterProIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMSSF103473. SSF103473. 1 hit.
PROSITEPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSLC17A8.
GenomeRNAi246213.
NextBio91891.
PROQ8NDX2.
SOURCESearch...

Entry information

Entry nameVGLU3_HUMAN
AccessionPrimary (citable) accession number: Q8NDX2
Secondary accession number(s): B3KXZ6, B7ZKV4, Q17RQ8
Entry history
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 99 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM