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Q01959

- SC6A3_HUMAN

UniProt

Q01959 - SC6A3_HUMAN

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Protein

Sodium-dependent dopamine transporter

Gene

SLC6A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

GO - Biological processi

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

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
Complete GO annotation...

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

BgeeiQ01959.
CleanExiHS_SLC6A3.
ExpressionAtlasiQ01959. baseline and differential.
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.
GeneTreeiENSGT00760000118857.
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

        10         20         30         40         50
MSKSKCSVGL MSSVVAPAKE PNAVGPKEVE LILVKEQNGV QLTSSTLTNP
60 70 80 90 100
RQSPVEAQDR ETWGKKIDFL LSVIGFAVDL ANVWRFPYLC YKNGGGAFLV
110 120 130 140 150
PYLLFMVIAG MPLFYMELAL GQFNREGAAG VWKICPILKG VGFTVILISL
160 170 180 190 200
YVGFFYNVII AWALHYLFSS FTTELPWIHC NNSWNSPNCS DAHPGDSSGD
210 220 230 240 250
SSGLNDTFGT TPAAEYFERG VLHLHQSHGI DDLGPPRWQL TACLVLVIVL
260 270 280 290 300
LYFSLWKGVK TSGKVVWITA TMPYVVLTAL LLRGVTLPGA IDGIRAYLSV
310 320 330 340 350
DFYRLCEASV WIDAATQVCF SLGVGFGVLI AFSSYNKFTN NCYRDAIVTT
360 370 380 390 400
SINSLTSFSS GFVVFSFLGY MAQKHSVPIG DVAKDGPGLI FIIYPEAIAT
410 420 430 440 450
LPLSSAWAVV FFIMLLTLGI DSAMGGMESV ITGLIDEFQL LHRHRELFTL
460 470 480 490 500
FIVLATFLLS LFCVTNGGIY VFTLLDHFAA GTSILFGVLI EAIGVAWFYG
510 520 530 540 550
VGQFSDDIQQ MTGQRPSLYW RLCWKLVSPC FLLFVVVVSI VTFRPPHYGA
560 570 580 590 600
YIFPDWANAL GWVIATSSMA MVPIYAAYKF CSLPGSFREK LAYAIAPEKD
610 620
RELVDRGEVR QFTLRHWLKV
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 CHEMBL2363064.
DrugBanki DB00543. Amoxapine.
DB00182. Amphetamine.
DB00289. Atomoxetine.
DB00245. Benzatropine.
DB00865. Benzphetamine.
DB01156. Bupropion.
DB01161. Chloroprocaine.
DB01114. Chlorphenamine.
DB00215. Citalopram.
DB00907. Cocaine.
DB06701. Dexmethylphenidate.
DB01576. Dextroamphetamine.
DB00937. Diethylpropion.
DB01146. Diphenylpyraline.
DB00988. Dopamine.
DB00476. Duloxetine.
DB01363. Ephedra.
DB01175. Escitalopram.
DB01463. Fencamfamine.
DB00458. Imipramine.
DB08824. Ioflupane I 123.
DB01255. Lisdexamfetamine.
DB00408. Loxapine.
DB00579. Mazindol.
DB01577. Methamphetamine.
DB00422. Methylphenidate.
DB06148. Mianserin.
DB00370. Mirtazapine.
DB00745. Modafinil.
DB01149. Nefazodone.
DB00454. Pethidine.
DB00830. Phenmetrazine.
DB00191. Phentermine.
DB00721. Procaine.
DB00852. Pseudoephedrine.
DB01104. Sertraline.
DB01105. Sibutramine.
DB00726. Trimipramine.
DB00285. Venlafaxine.
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.
GeneTreei ENSGT00760000118857.
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

Bgeei Q01959.
CleanExi HS_SLC6A3.
ExpressionAtlasi Q01959. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 155 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