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Q01959

- SC6A3_HUMAN

UniProt

Q01959 - SC6A3_HUMAN

Protein

Sodium-dependent dopamine transporter

Gene

SLC6A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 1 (01 Apr 1993)
      Previous versions | rss
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    Functioni

    Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.1 Publication

    GO - Molecular functioni

    1. dopamine:sodium symporter activity Source: Ensembl
    2. dopamine binding Source: Ensembl
    3. dopamine transmembrane transporter activity Source: UniProtKB
    4. drug binding Source: Ensembl
    5. monoamine transmembrane transporter activity Source: MGI
    6. protein binding Source: UniProtKB

    GO - Biological processi

    1. adenohypophysis development Source: Ensembl
    2. aging Source: Ensembl
    3. cell death Source: UniProtKB-KW
    4. dopamine biosynthetic process Source: Ensembl
    5. dopamine catabolic process Source: Ensembl
    6. dopamine transport Source: UniProtKB
    7. lactation Source: Ensembl
    8. locomotory behavior Source: Ensembl
    9. monoamine transport Source: MGI
    10. neurotransmitter biosynthetic process Source: Reactome
    11. positive regulation of multicellular organism growth Source: Ensembl
    12. prepulse inhibition Source: Ensembl
    13. regulation of dopamine metabolic process Source: Ensembl
    14. response to cAMP Source: Ensembl
    15. response to cocaine Source: Ensembl
    16. response to drug Source: Ensembl
    17. response to ethanol Source: Ensembl
    18. response to iron ion Source: Ensembl
    19. response to nicotine Source: Ensembl
    20. sensory perception of smell Source: Ensembl
    21. synaptic transmission Source: Reactome
    22. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Neurotransmitter transport, Symport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_15514. Dopamine clearance from the synaptic cleft.
    REACT_20506. Na+/Cl- dependent neurotransmitter transporters.
    SABIO-RKQ01959.

    Protein family/group databases

    TCDBi2.A.22.1.3. the neurotransmitter:sodium symporter (nss) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium-dependent dopamine transporter
    Short name:
    DA transporter
    Short name:
    DAT
    Alternative name(s):
    Solute carrier family 6 member 3
    Gene namesi
    Name:SLC6A3
    Synonyms:DAT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:11049. SLC6A3.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. axon Source: UniProtKB
    2. cytoplasm Source: ProtInc
    3. integral component of membrane Source: ProtInc
    4. integral component of plasma membrane Source: InterPro
    5. neuronal cell body Source: UniProtKB
    6. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Parkinsonism-dystonia infantile (PKDYS) [MIM:613135]: A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti368 – 3681L → Q in PKDYS; loss of function. 1 Publication
    VAR_063771
    Natural varianti395 – 3951P → L in PKDYS; loss of function. 1 Publication
    VAR_063772

    Keywords - Diseasei

    Disease mutation, Dystonia, Neurodegeneration, Parkinsonism

    Organism-specific databases

    MIMi613135. phenotype.
    Orphaneti238455. Infantile dystonia-parkinsonism.
    PharmGKBiPA311.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 620620Sodium-dependent dopamine transporterPRO_0000214751Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi181 – 1811N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi188 – 1881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi205 – 2051N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi306 – 306Interchain

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ01959.
    PRIDEiQ01959.

    PTM databases

    PhosphoSiteiQ01959.

    Miscellaneous databases

    PMAP-CutDBQ01959.

    Expressioni

    Tissue specificityi

    Highly expressed in substantia nigra.1 Publication

    Gene expression databases

    ArrayExpressiQ01959.
    BgeeiQ01959.
    CleanExiHS_SLC6A3.
    GenevestigatoriQ01959.

    Organism-specific databases

    HPAiCAB016249.
    HPA013602.

    Interactioni

    Subunit structurei

    Homooligomer; disulfide-linked. Interacts with PRKCABP and TGFB1I1. Interacts (via N-terminus) with SYNGR3 (via N-terminus). Interacts with SLC18A2. Interacts with TOR1A (ATP-bound); TOR1A regulates SLC6A3 subcellular location.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DRD2P144164EBI-6661445,EBI-2928178
    SNCAP378403EBI-6661445,EBI-985879

    Protein-protein interaction databases

    BioGridi112422. 14 interactions.
    DIPiDIP-41827N.
    IntActiQ01959. 3 interactions.
    MINTiMINT-576917.
    STRINGi9606.ENSP00000270349.

    Structurei

    3D structure databases

    ProteinModelPortaliQ01959.
    SMRiQ01959. Positions 59-600.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6868CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini161 – 23777ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini579 – 62042CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei69 – 8921Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei96 – 11621Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei140 – 16021Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei238 – 25619Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei265 – 28218Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei318 – 33518Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei347 – 36822Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei401 – 42020Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei447 – 46519Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei481 – 50121Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei522 – 54120Helical; Name=11Sequence AnalysisAdd
    BLAST
    Transmembranei560 – 57819Helical; Name=12Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni561 – 59030Interaction with TGFB1I1Add
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0733.
    HOGENOMiHOG000116406.
    HOVERGENiHBG071421.
    InParanoidiQ01959.
    KOiK05036.
    OMAiIFPDWAN.
    OrthoDBiEOG793B71.
    PhylomeDBiQ01959.
    TreeFamiTF343812.

    Family and domain databases

    InterProiIPR000175. Na/ntran_symport.
    IPR002436. Na/ntran_symport_dopamine.
    [Graphical view]
    PANTHERiPTHR11616. PTHR11616. 1 hit.
    PfamiPF00209. SNF. 1 hit.
    [Graphical view]
    PRINTSiPR01202. DOPTRANSPORT.
    PR00176. NANEUSMPORT.
    PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
    PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
    PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q01959-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSKSKCSVGL MSSVVAPAKE PNAVGPKEVE LILVKEQNGV QLTSSTLTNP    50
    RQSPVEAQDR ETWGKKIDFL LSVIGFAVDL ANVWRFPYLC YKNGGGAFLV 100
    PYLLFMVIAG MPLFYMELAL GQFNREGAAG VWKICPILKG VGFTVILISL 150
    YVGFFYNVII AWALHYLFSS FTTELPWIHC NNSWNSPNCS DAHPGDSSGD 200
    SSGLNDTFGT TPAAEYFERG VLHLHQSHGI DDLGPPRWQL TACLVLVIVL 250
    LYFSLWKGVK TSGKVVWITA TMPYVVLTAL LLRGVTLPGA IDGIRAYLSV 300
    DFYRLCEASV WIDAATQVCF SLGVGFGVLI AFSSYNKFTN NCYRDAIVTT 350
    SINSLTSFSS GFVVFSFLGY MAQKHSVPIG DVAKDGPGLI FIIYPEAIAT 400
    LPLSSAWAVV FFIMLLTLGI DSAMGGMESV ITGLIDEFQL LHRHRELFTL 450
    FIVLATFLLS LFCVTNGGIY VFTLLDHFAA GTSILFGVLI EAIGVAWFYG 500
    VGQFSDDIQQ MTGQRPSLYW RLCWKLVSPC FLLFVVVVSI VTFRPPHYGA 550
    YIFPDWANAL GWVIATSSMA MVPIYAAYKF CSLPGSFREK LAYAIAPEKD 600
    RELVDRGEVR QFTLRHWLKV 620
    Length:620
    Mass (Da):68,495
    Last modified:April 1, 1993 - v1
    Checksum:iCD95009B6BA93108
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti35 – 351K → M in AAB23443. (PubMed:1406597)Curated
    Sequence conflicti354 – 3541S → C in AAB23443. (PubMed:1406597)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti121 – 1211G → S in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036158
    Natural varianti237 – 2371R → Q.1 Publication
    Corresponds to variant rs6345 [ dbSNP | Ensembl ].
    VAR_014180
    Natural varianti368 – 3681L → Q in PKDYS; loss of function. 1 Publication
    VAR_063771
    Natural varianti395 – 3951P → L in PKDYS; loss of function. 1 Publication
    VAR_063772
    Natural varianti471 – 4711V → I.1 Publication
    Corresponds to variant rs75916702 [ dbSNP | Ensembl ].
    VAR_064580
    Natural varianti544 – 5441R → S in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036159

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M95167 mRNA. Translation: AAC41720.1.
    S46955 mRNA. Translation: AAA11754.1.
    S44626 mRNA. Translation: AAB23443.1.
    L24178 mRNA. Translation: AAA19560.1.
    D88570 Genomic DNA. Translation: BAA22511.1.
    AF119117 Genomic DNA. Translation: AAC50179.2.
    AF321321
    , AF306558, AF321320, AF306559, AF306560, AF306561, AF306562, AF306563, AF306564 Genomic DNA. Translation: AAG33844.1.
    EF174603 mRNA. Translation: ABO77644.1.
    AY623110 Genomic DNA. Translation: AAT38106.1.
    CH471102 Genomic DNA. Translation: EAX08159.1.
    BC132977 mRNA. Translation: AAI32978.1.
    BC133003 mRNA. Translation: AAI33004.1.
    M96670 mRNA. Translation: AAA35770.1.
    CCDSiCCDS3863.1.
    PIRiA48980.
    I57937.
    I84455.
    RefSeqiNP_001035.1. NM_001044.4.
    UniGeneiHs.406.

    Genome annotation databases

    EnsembliENST00000270349; ENSP00000270349; ENSG00000142319.
    GeneIDi6531.
    KEGGihsa:6531.
    UCSCiuc003jck.3. human.

    Polymorphism databases

    DMDMi266667.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs
    Wikipedia

    Dopamine transporter entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M95167 mRNA. Translation: AAC41720.1 .
    S46955 mRNA. Translation: AAA11754.1 .
    S44626 mRNA. Translation: AAB23443.1 .
    L24178 mRNA. Translation: AAA19560.1 .
    D88570 Genomic DNA. Translation: BAA22511.1 .
    AF119117 Genomic DNA. Translation: AAC50179.2 .
    AF321321
    , AF306558 , AF321320 , AF306559 , AF306560 , AF306561 , AF306562 , AF306563 , AF306564 Genomic DNA. Translation: AAG33844.1 .
    EF174603 mRNA. Translation: ABO77644.1 .
    AY623110 Genomic DNA. Translation: AAT38106.1 .
    CH471102 Genomic DNA. Translation: EAX08159.1 .
    BC132977 mRNA. Translation: AAI32978.1 .
    BC133003 mRNA. Translation: AAI33004.1 .
    M96670 mRNA. Translation: AAA35770.1 .
    CCDSi CCDS3863.1.
    PIRi A48980.
    I57937.
    I84455.
    RefSeqi NP_001035.1. NM_001044.4.
    UniGenei Hs.406.

    3D structure databases

    ProteinModelPortali Q01959.
    SMRi Q01959. Positions 59-600.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112422. 14 interactions.
    DIPi DIP-41827N.
    IntActi Q01959. 3 interactions.
    MINTi MINT-576917.
    STRINGi 9606.ENSP00000270349.

    Chemistry

    BindingDBi Q01959.
    ChEMBLi CHEMBL2096990.
    DrugBanki DB00182. Amphetamine.
    DB00245. Benztropine.
    DB01156. Bupropion.
    DB01161. Chloroprocaine.
    DB00907. Cocaine.
    DB01576. Dextroamphetamine.
    DB00937. Diethylpropion.
    DB00476. Duloxetine.
    DB01463. Fencamfamine.
    DB00579. Mazindol.
    DB00422. Methylphenidate.
    DB00745. Modafinil.
    DB00830. Phenmetrazine.
    DB00191. Phentermine.
    DB00721. Procaine.
    GuidetoPHARMACOLOGYi 927.

    Protein family/group databases

    TCDBi 2.A.22.1.3. the neurotransmitter:sodium symporter (nss) family.

    PTM databases

    PhosphoSitei Q01959.

    Polymorphism databases

    DMDMi 266667.

    Proteomic databases

    PaxDbi Q01959.
    PRIDEi Q01959.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000270349 ; ENSP00000270349 ; ENSG00000142319 .
    GeneIDi 6531.
    KEGGi hsa:6531.
    UCSCi uc003jck.3. human.

    Organism-specific databases

    CTDi 6531.
    GeneCardsi GC05M001392.
    HGNCi HGNC:11049. SLC6A3.
    HPAi CAB016249.
    HPA013602.
    MIMi 126455. gene.
    613135. phenotype.
    neXtProti NX_Q01959.
    Orphaneti 238455. Infantile dystonia-parkinsonism.
    PharmGKBi PA311.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0733.
    HOGENOMi HOG000116406.
    HOVERGENi HBG071421.
    InParanoidi Q01959.
    KOi K05036.
    OMAi IFPDWAN.
    OrthoDBi EOG793B71.
    PhylomeDBi Q01959.
    TreeFami TF343812.

    Enzyme and pathway databases

    Reactomei REACT_15514. Dopamine clearance from the synaptic cleft.
    REACT_20506. Na+/Cl- dependent neurotransmitter transporters.
    SABIO-RK Q01959.

    Miscellaneous databases

    GeneWikii Dopamine_transporter.
    GenomeRNAii 6531.
    NextBioi 25411.
    PMAP-CutDB Q01959.
    PROi Q01959.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q01959.
    Bgeei Q01959.
    CleanExi HS_SLC6A3.
    Genevestigatori Q01959.

    Family and domain databases

    InterProi IPR000175. Na/ntran_symport.
    IPR002436. Na/ntran_symport_dopamine.
    [Graphical view ]
    PANTHERi PTHR11616. PTHR11616. 1 hit.
    Pfami PF00209. SNF. 1 hit.
    [Graphical view ]
    PRINTSi PR01202. DOPTRANSPORT.
    PR00176. NANEUSMPORT.
    PROSITEi PS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
    PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
    PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs."
      Vandenbergh D.J., Persico A.M., Uhl G.R.
      Brain Res. Mol. Brain Res. 15:161-166(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter."
      Giros B., el Mestikawy S., Godinot N., Zheng K., Han H., Yang-Feng T., Caron M.G.
      Mol. Pharmacol. 42:383-390(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    3. "Pharmacological heterogeneity of the cloned and native human dopamine transporter: disassociation of [3H]WIN 35,428 and [3H]GBR 12,935 binding."
      Pristupa Z.B., Wilson J.M., Hoffman B.J., Kish S.J., Niznik H.B.
      Mol. Pharmacol. 45:125-135(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    4. "Structure and organization of the gene encoding human dopamine transporter."
      Kawarai T., Kawakami H., Yamamura Y., Nakamura S.
      Gene 195:11-18(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations."
      Vandenbergh D.J., Thompson M.D., Cook E.H., Bendahhou E., Nguyen T., Krasowski M.D., Zarrabian D., Comings D., Sellers E.M., Tyndale R.F., George S.R., O'Dowd B.F., Uhl G.R.
      Mol. Psychiatry 5:283-292(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    6. "Evidence for linkage disequilibrium between the dopamine transporter and bipolar disorder."
      Greenwood T.A., Alexander M., Keck P.E., McElroy S., Sadovnick A.D., Remick R.A., Kelsoe J.R.
      Am. J. Med. Genet. 105:145-151(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    7. "Sequence variation in the primate dopamine transporter gene and its relationship to social dominance."
      Miller-Butterworth C.M., Kaplan J.R., Shaffer J., Devlin B., Manuck S.B., Ferrell R.E.
      Mol. Biol. Evol. 25:18-28(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    8. NIEHS SNPs program
      Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    10. "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].
    11. "Human and mouse dopamine transporter genes: conservation of 5'-flanking sequence elements and gene structures."
      Donovan D.M., Vandenbergh D.J., Perry M.P., Bird G.S., Ingersoll R., Nanthakumar E., Uhl G.R.
      Brain Res. Mol. Brain Res. 30:327-335(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-385, TISSUE SPECIFICITY.
    12. "Dopamine transporter mRNA content in human substantia nigra decreases precipitously with age."
      Bannon M.J., Poosch M.S., Xia Y., Goebel D.J., Cassin B., Kapatos G.
      Proc. Natl. Acad. Sci. U.S.A. 89:7095-7099(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 164-255.
    13. "Functional interaction between monoamine plasma membrane transporters and the synaptic PDZ domain-containing protein PICK1."
      Torres G.E., Yao W.-D., Mohn A.R., Quan H., Kim K.-M., Levey A.I., Staudinger J., Caron M.G.
      Neuron 30:121-134(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PRKCABP.
    14. "Symmetrical homodimer of the human dopamine transporter revealed by cross-linking Cys306 at the extracellular end of TM6."
      Hastrup H., Karlin A., Javitch J.A.
      Abstr. - Soc. Neurosci. 27:1866-1866(2001)
      Cited for: INTERCHAIN DISULFIDE BOND.
    15. "The multiple LIM domain-containing adaptor protein Hic-5 synaptically colocalizes and interacts with the dopamine transporter."
      Carneiro A.M.D., Ingram S.L., Beaulieu J.-M., Sweeney A., Amara S.G., Thomas S.M., Caron M.G., Torres G.E.
      J. Neurosci. 22:7045-7054(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TGFB1I1.
    16. "Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant."
      Torres G.E., Sweeney A.L., Beaulieu J.M., Shashidharan P., Caron M.G.
      Proc. Natl. Acad. Sci. U.S.A. 101:15650-15655(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS DOPAMINE TRANSPORTER, INTERACTION WITH TOR1A, SUBCELLULAR LOCATION.
    17. Cited for: VARIANT GLN-237.
    18. Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-121 AND SER-544.
    19. "Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia."
      Kurian M.A., Zhen J., Cheng S.Y., Li Y., Mordekar S.R., Jardine P., Morgan N.V., Meyer E., Tee L., Pasha S., Wassmer E., Heales S.J., Gissen P., Reith M.E., Maher E.R.
      J. Clin. Invest. 119:1595-1603(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PKDYS GLN-368 AND LEU-395, CHARACTERIZATION OF VARIANTS PKDYS GLN-368 AND LEU-395.
    20. Cited for: VARIANT ILE-471.

    Entry informationi

    Entry nameiSC6A3_HUMAN
    AccessioniPrimary (citable) accession number: Q01959
    Secondary accession number(s): A2RUN4, Q14996
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: April 1, 1993
    Last modified: October 1, 2014
    This is version 154 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

    Miscellaneous

    This protein is the target of psychomotor stimulants such as amphetamines or cocaine.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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