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MGP002867

UniProt Annotations

Entry Information
Gene Namesolute carrier family 6 (neurotransmitter transporter), member 3
Protein EntrySC6A3_HUMAN
UniProt IDQ01959
SpeciesHuman
Comments
Comment typeDescription
DiseaseParkinsonism-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. {ECO:0000269|PubMed:19478460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAmine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals. {ECO:0000269|PubMed:15505207}.
InteractionP14416:DRD2; NbExp=4; IntAct=EBI-6661445, EBI-2928178; P37840:SNCA; NbExp=3; IntAct=EBI-6661445, EBI-985879;
MiscellaneousThis protein is the target of psychomotor stimulants such as amphetamines or cocaine.
SimilarityBelongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:15505207}; Multi-pass membrane protein {ECO:0000269|PubMed:15505207}.
SubunitHomooligomer; 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. {ECO:0000269|PubMed:11343649, ECO:0000269|PubMed:12177201, ECO:0000269|PubMed:15505207}.
Tissue SpecificityHighly expressed in substantia nigra. {ECO:0000269|PubMed:7637582}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/slc6a3/";
Web ResourceName=Wikipedia; Note=Dopamine transporter entry; URL="http://en.wikipedia.org/wiki/Dopamine_transporter";
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