SLC6A3
entrez
6531
canonical
uniprot
Q01959
canonical
ensembl
ENSG00000142319
resolver
ensembl
ENSG00000276996
resolver
ensp
ENSP00000270349
resolver
ensp
ENSP00000479597
resolver
enst
ENST00000270349
resolver
enst
ENST00000621716
resolver
genesymbol
SLC6A3
resolver
genesymbol_syn
DAT1
resolver
hgnc
HGNC:11049
resolver
uniprot
A2RUN4
resolver
uniprot
Q14996
resolver
uniprot_entry
SC6A3_HUMAN
resolver
uniprot_sec
A2RUN4
resolver
uniprot_sec
Q14996
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by cocaine, which occupies the same binding site as dopamine (PubMed:1406597, PubMed:39112701, PubMed:39112703, PubMed:39112705, PubMed:8302271). Inhibited by zinc ions (PubMed:39112705). Enhanced by the antibiotic valinomycin (PubMed:39112703). Inhibited by benztropine (PubMed:39112701, PubMed:39112705). Inhibited by GBR 12909 dihydrochloride and amphetamine (PubMed:1406597, PubMed:39112701, PubMed:8302271). Inhibited by mazindol, GBR 12783 dihydrochloride, nomifensine, diclofensine, amfonelic acid, Lu 19005, Win-35428, bupropion and ritalin (PubMed:1406597, PubMed:8302271). {ECO:0000269|PubMed:1406597, ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0000269|PubMed:8302271}.
uniprot
proteins
amino_acid_sequence
MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDRETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELALGQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVIIAWALHYLFSSFTTELPWIHCNNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQLTACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSVDFYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAAGTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSIVTFRPPHYGAYIFPDWANALGWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKDRELVDRGEVRQFTLRHWLKV
uniprot
proteins
disease_involvement
DISEASE: Parkinsonism-dystonia 1, infantile-onset (PKDYS1) [MIM:613135]: An autosomal recessive 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates sodium- and chloride-dependent transport of dopamine (PubMed:10375632, PubMed:11093780, PubMed:1406597, PubMed:15505207, PubMed:19478460, PubMed:39112701, PubMed:39112703, PubMed:39112705, PubMed:8302271). Also mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline) (By similarity). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signaling (By similarity). {ECO:0000250|UniProtKB:P23977, ECO:0000250|UniProtKB:Q61327, ECO:0000269|PubMed:10375632, ECO:0000269|PubMed:11093780, ECO:0000269|PubMed:1406597, ECO:0000269|PubMed:15505207, ECO:0000269|PubMed:19478460, ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0000269|PubMed:8302271}.
uniprot
proteins
mass_dalton
68495
uniprot
proteins
mutagenesis
MUTAGEN 79; /note="D->A: Abolishes dopamine uptake."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 152; /note="V->I: Reduces dopamine uptake."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 211; /note="T->E,H: Enhances the inhibition on dopamine uptake by zinc ions."; /evidence="ECO:0000269|PubMed:39112705"; MUTAGEN 317; /note="Q->A: Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 320; /note="F->A: Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 321; /note="S->A: Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 326; /note="F->A: Reduces the inhibition on dopamine uptake by amphetamine. Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 353; /note="N->A: Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 357; /note="S->A: Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 364; /note="V->I: No effect on dopamine uptake. Reduces dopamine uptake; when associated with L-390."; /evidence="ECO:0000269|PubMed:39112705"; MUTAGEN 390; /note="I->L: Reduces dopamine uptake. Reduces dopamine uptake; when associated with I-364."; /evidence="ECO:0000269|PubMed:39112705"; MUTAGEN 394; /note="Y->F: Reduces dopamine uptake."; /evidence="ECO:0000269|PubMed:39112705"; MUTAGEN 414; /note="M->L: Reduces dopamine uptake."; /evidence="ECO:0000269|PubMed:39112705"; MUTAGEN 421; /note="D->A: Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 422; /note="S->A: Reduces the inhibition on dopamine uptake by amphetamine. Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701"; MUTAGEN 426; /note="G->A: Reduces dopamine uptake. Reduces glycosylation and cell surface expression."; /evidence="ECO:0000269|PubMed:39112701
uniprot
proteins
protein_family
SLC6A3 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
10375632
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10889531
uniprot
proteins
pubmed
11093780
uniprot
proteins
pubmed
11304827
uniprot
proteins
pubmed
11343649
uniprot
proteins
pubmed
12177201
uniprot
proteins
pubmed
1353885
uniprot
proteins
pubmed
1359373
uniprot
proteins
pubmed
1406597
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15505207
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17296554
uniprot
proteins
pubmed
17934207
uniprot
proteins
pubmed
19478460
uniprot
proteins
pubmed
21179162
uniprot
proteins
pubmed
26442590
uniprot
proteins
pubmed
39112701
uniprot
proteins
pubmed
39112703
uniprot
proteins
pubmed
39112705
uniprot
proteins
pubmed
7637582
uniprot
proteins
pubmed
8302271
uniprot
proteins
pubmed
9300814
uniprot
proteins
sequence_length
620
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11343649, ECO:0000269|PubMed:15505207, ECO:0000269|PubMed:39112701}; Multi-pass membrane protein {ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705}. Cell projection, neuron projection {ECO:0000250|UniProtKB:P23977}. Cell projection, axon {ECO:0000269|PubMed:17296554}. Note=Localizes to neurite tips in neuronal cells (By similarity). Colocalizes with SEPTIN4 at axon terminals, especially at the varicosities (By similarity). {ECO:0000250|UniProtKB:P23977, ECO:0000250|UniProtKB:Q61327}.
uniprot
proteins
transmembrane_region
TRANSMEM 57..95; /note="Discontinuously helical; Name=1"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 96..127; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 128..171; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 237..256; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 257..287; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 307..335; /note="Discontinuously helical; Name=6"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 336..376; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 401..442; /note="Helical; Name=8"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 443..466; /note="Helical; Name=9"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 467..499; /note="Helical; Name=10"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 517..542; /note="Helical; Name=11"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4"; TRANSMEM 554..583; /note="Helical; Name=12"; /evidence="ECO:0000269|PubMed:39112701, ECO:0000269|PubMed:39112703, ECO:0000269|PubMed:39112705, ECO:0007744|PDB:8VBY, ECO:0007744|PDB:8Y2C, ECO:0007744|PDB:8Y2D, ECO:0007744|PDB:8Y2E, ECO:0007744|PDB:8Y2F, ECO:0007744|PDB:8Y2G, ECO:0007744|PDB:9EO4
uniprot
proteins