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Aliases for SLC6A3 Gene

Aliases for SLC6A3 Gene

  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 3 2 3
  • DAT1 3 4 6
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Dopamine), Member 3 2 3
  • Dopamine Transporter 1 2 3
  • DA Transporter 3 4
  • PKDYS 3 6
  • DAT 3 4
  • Sodium-Dependent Dopamine Transporter 3
  • Solute Carrier Family 6 Member 3 4
  • Dopamine Transporter 2

External Ids for SLC6A3 Gene

Previous Symbols for SLC6A3 Gene

  • DAT1

Summaries for SLC6A3 Gene

Entrez Gene Summary for SLC6A3 Gene

  • This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]

GeneCards Summary for SLC6A3 Gene

SLC6A3 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 3) is a Protein Coding gene. Diseases associated with SLC6A3 include parkinsonism-dystonia, infantile and nicotine dependence, protection against. Among its related pathways are Alpha-synuclein signaling and Amphetamine addiction. GO annotations related to this gene include receptor binding and protein N-terminus binding. An important paralog of this gene is SLC6A4.

UniProtKB/Swiss-Prot for SLC6A3 Gene

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

Tocris Summary for SLC6A3 Gene

  • Dopamine transporters (DAT) are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) widely distributed throughout the brain in areas of dopaminergic activity, including the striatum and substantia nigra. They provide rapid clearance of dopamine, adrenalin and noradrenalin from the synaptic cleft, terminating the neurotransmitter signal. Dopamine transporters can also mediate an outward efflux and it has been suggested that inward and outward transport are independently regulated. Structural motifs include 12-TM domains, extracellular loops, cytoplasmic C- and N-termini and putative phosphorylation sites. There is evidence to support the role of dopamine transporters in attention deficit disorder, bipolar disorder, clinical depression and alcoholism.

Gene Wiki entry for SLC6A3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A3 Gene

Genomics for SLC6A3 Gene

Genomic Location for SLC6A3 Gene

Start:
1,392,790 bp from pter
End:
1,445,430 bp from pter
Size:
52,641 bases
Orientation:
Minus strand

Genomic View for SLC6A3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A3 Gene

Regulatory Elements for SLC6A3 Gene

Proteins for SLC6A3 Gene

  • Protein details for SLC6A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01959-SC6A3_HUMAN
    Recommended name:
    Sodium-dependent dopamine transporter
    Protein Accession:
    Q01959
    Secondary Accessions:
    • A2RUN4
    • Q14996

    Protein attributes for SLC6A3 Gene

    Size:
    620 amino acids
    Molecular mass:
    68495 Da
    Quaternary structure:
    • 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.
    Miscellaneous:
    • This protein is the target of psychomotor stimulants such as amphetamines or cocaine

neXtProt entry for SLC6A3 Gene

Proteomics data for SLC6A3 Gene at MOPED

Post-translational modifications for SLC6A3 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn181, Asn188, and Asn205

Other Protein References for SLC6A3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A3 Gene

Domains for SLC6A3 Gene

Gene Families for SLC6A3 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC6A3 Gene

Suggested Antigen Peptide Sequences for SLC6A3 Gene

Graphical View of Domain Structure for InterPro Entry

Q01959

UniProtKB/Swiss-Prot:

SC6A3_HUMAN
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily.:
    • Q01959
genes like me logo Genes that share domains with SLC6A3: view

Function for SLC6A3 Gene

Molecular function for SLC6A3 Gene

GENATLAS Biochemistry: solute carrier family 6,member A3,neurotransmitter transporter,dopamine,unlikely involved in Gilles de la Tourette syndrome,inconsistent evidence for involvement in bipolar effective disorder
UniProtKB/Swiss-Prot Function: Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.

Gene Ontology (GO) - Molecular Function for SLC6A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0005102 receptor binding IEA --
GO:0005328 neurotransmitter:sodium symporter activity --
GO:0005329 dopamine transmembrane transporter activity IDA 15505207
GO:0005330 dopamine:sodium symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A3: view
genes like me logo Genes that share phenotypes with SLC6A3: view

Animal Models for SLC6A3 Gene

MGI Knock Outs for SLC6A3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC6A3 Gene

Localization for SLC6A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A3 Gene COMPARTMENTS Subcellular localization image for SLC6A3 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
endosome 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC6A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10823899
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016021 integral component of membrane TAS 8628395
GO:0030424 axon IDA 12958153
genes like me logo Genes that share ontologies with SLC6A3: view

Pathways for SLC6A3 Gene

genes like me logo Genes that share pathways with SLC6A3: view

Gene Ontology (GO) - Biological Process for SLC6A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IEA --
GO:0007268 synaptic transmission TAS --
GO:0007568 aging IEA --
GO:0007595 lactation IEA --
GO:0007608 sensory perception of smell IEA --
genes like me logo Genes that share ontologies with SLC6A3: view

Compounds for SLC6A3 Gene

(5) Tocris Compounds for SLC6A3 Gene

Compound Action Cas Number
Bupropion hydrochloride Non-selective inhibitor of dopamine and noradrenalin transporters [31677-93-7]
GBR 12909 dihydrochloride Selective DA uptake inhibitor. Also sigma ligand [67469-78-7]
GBR 13069 dihydrochloride Potent dopamine uptake inhibitor [77862-93-2]
Tetrabenazine Potent inhibitor of vesicular monoamine transport [58-46-8]
Threo-methylphenidate hydrochloride Inhibitor of dopamine and noradrenalin transporters. Psychomotor stimulant [298-59-9]

(3) HMDB Compounds for SLC6A3 Gene

Compound Synonyms Cas Number PubMed IDs
Bupropion
  • (+-)-Bupropion
34841-39-9
Dopamine
  • 2-(3,4-Dihydroxyphenyl)ethylamine
62-31-7
Sodium
  • Sodium
7440-23-5

(37) Drugbank Compounds for SLC6A3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3,4-Methylenedioxymethamphetamine
  • Ecstasy
42542-10-9 target negative modulator
3,4-Methylenedioxymethamphetamine
  • Ecstasy
42542-10-9 transporter
4-Methoxyamphetamine
23239-32-9 target inhibitor
Amphetamine
  • (+/-)-Benzedrine
300-62-9 target negative modulator
Benzatropine
  • Benzatropina [INN-Spanish]
86-13-5 target inhibitor

(5) IUPHAR Ligand for SLC6A3 Gene

Ligand Type Action Affinity Pubmed IDs
mazindol Inhibitor Inhibition 8.9
[3H]GBR12935 None None 8.5
[3H]WIN35428 None None 8
WIN35428 Inhibitor Inhibition 7.9
GBR12935 Inhibitor Inhibition 7.6

(117) Novoseek inferred chemical compound relationships for SLC6A3 Gene

Compound -log(P) Hits PubMed IDs
dopamine 96.5 533
(123i)fp-cit 92.6 32
(123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane 90.6 16
spec-t 87.4 157
cocaine 87 293
genes like me logo Genes that share compounds with SLC6A3: view

Transcripts for SLC6A3 Gene

mRNA/cDNA for SLC6A3 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC6A3 Gene

Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A3 Gene

No ASD Table

Relevant External Links for SLC6A3 Gene

GeneLoc Exon Structure for
SLC6A3
ECgene alternative splicing isoforms for
SLC6A3

Expression for SLC6A3 Gene

mRNA expression in normal human tissues for SLC6A3 Gene

mRNA differential expression in normal tissues according to GTEx for SLC6A3 Gene

This gene is overexpressed in Brain - Substantia nigra (47.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC6A3 Gene

SOURCE GeneReport for Unigene cluster for SLC6A3 Gene Hs.406

mRNA Expression by UniProt/SwissProt for SLC6A3 Gene

Q01959-SC6A3_HUMAN
Tissue specificity: Highly expressed in substantia nigra.
genes like me logo Genes that share expressions with SLC6A3: view

Orthologs for SLC6A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A3 35
  • 95.28 (n)
  • 94.47 (a)
SLC6A3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A3 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A3 35
  • 87.9 (n)
  • 91.07 (a)
SLC6A3 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a3 35
  • 87.56 (n)
  • 93.7 (a)
Slc6a3 16
Slc6a3 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A3 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A3 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a3 35
  • 87.95 (n)
  • 93.68 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 40 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a3 35
  • 73.06 (n)
  • 83.71 (a)
zebrafish
(Danio rerio)
Actinopterygii slc6a3 35
  • 77.33 (n)
  • 82 (a)
SLC6A3 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta DAT 36
  • 49 (a)
ManyToMany
ine 37
  • 41 (a)
BG:DS03431.1 37
  • 33 (a)
CG7075 37
  • 34 (a)
CG4476 37
  • 35 (a)
SerT 37
  • 52 (a)
DAT 37
  • 52 (a)
CG10804 37
  • 37 (a)
CG3252 37
  • 35 (a)
CG1698 37
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea dat-1 36
  • 44 (a)
ManyToMany
snf-8 37
  • 24 (a)
snf-4 37
  • 33 (a)
snf-9 37
  • 31 (a)
mod-5 37
  • 45 (a)
snf-12 37
  • 30 (a)
snf-2 37
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
ManyToMany
Species with no ortholog for SLC6A3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A3 Gene

ENSEMBL:
Gene Tree for SLC6A3 (if available)
TreeFam:
Gene Tree for SLC6A3 (if available)

Paralogs for SLC6A3 Gene

Paralogs for SLC6A3 Gene

Pseudogenes.org Pseudogenes for SLC6A3 Gene

genes like me logo Genes that share paralogs with SLC6A3: view

Variants for SLC6A3 Gene

Sequence variations from dbSNP and Humsavar for SLC6A3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs6345 - 1,421,958(-) TCCGC(A/G)GTGGC missense, reference
rs6351 -- 1,443,036(-) AGCCC(C/T)GTGGA reference, synonymous-codon
rs27049 -- 1,412,646(+) GACCA(G/T)TTCAG intron-variant
rs27072 -- 1,394,407(+) AGAGC(C/T)GGGAG utr-variant-3-prime
rs37021 -- 1,417,239(-) CAGGG(C/T)GCCGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A3 Gene

Variant ID Type Subtype PubMed ID
nsv880847 CNV Loss 21882294
nsv509045 CNV Insertion 20534489
nsv880418 CNV Loss 21882294
nsv830187 CNV Loss 17160897
nsv461908 CNV Loss 19166990
dgv5917n71 CNV Loss 21882294
nsv881664 CNV Loss 21882294
nsv880402 CNV Loss 21882294
esv2729483 CNV Deletion 23290073
esv1433047 CNV Insertion 17803354
nsv4680 CNV Insertion 18451855
esv2729484 CNV Deletion 23290073
esv23210 CNV Loss 19812545
esv1707642 CNV Insertion 17803354
esv2729486 CNV Deletion 23290073
esv2729487 CNV Deletion 23290073
esv2729488 CNV Deletion 23290073
nsv328158 CNV Insertion 16902084
nsv461910 CNV Loss 19166990
esv2729489 CNV Deletion 23290073
nsv881100 CNV Loss 21882294
esv21833 CNV Loss 19812545

Relevant External Links for SLC6A3 Gene

HapMap Linkage Disequilibrium report
SLC6A3
Human Gene Mutation Database (HGMD)
SLC6A3
Locus Specific Mutation Databases (LSDB)
SLC6A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A3 Gene

Disorders for SLC6A3 Gene

(2) OMIM Diseases for SLC6A3 Gene (126455)

UniProtKB/Swiss-Prot

SC6A3_HUMAN
  • 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. {ECO:0000269 PubMed:19478460}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(87) Novoseek inferred disease relationships for SLC6A3 Gene

Disease -log(P) Hits PubMed IDs
parkinson disease 87.5 148
attention-deficit hyperactivity disorder 87.4 113
parkinsonism 81.8 79
cocaine abuse 71.4 16
cocaine addiction 71 11

Relevant External Links for SLC6A3

Genetic Association Database (GAD)
SLC6A3
Human Genome Epidemiology (HuGE) Navigator
SLC6A3
genes like me logo Genes that share disorders with SLC6A3: view

Publications for SLC6A3 Gene

  1. Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. (PMID: 1406597) Giros B. … Caron M.G. (Mol. Pharmacol. 1992) 2 3 4 23
  2. Dopamine transporter gene associated with diminished subjective response to amphetamine. (PMID: 15602501) Lott D.C. … de Wit H. (Neuropsychopharmacology 2005) 3 23 25 48
  3. Pharmacological heterogeneity of the cloned and native human dopamine transporter: disassociation of [3H]WIN 35,428 and [3H]GBR 12,935 binding. (PMID: 8302271) Pristupa Z.B. … Niznik H.B. (Mol. Pharmacol. 1994) 3 4 23
  4. Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations. (PMID: 10889531) Vandenbergh D.J. … Uhl G.R. (Mol. Psychiatry 2000) 3 4 23
  5. Evidence for linkage disequilibrium between the dopamine transporter and bipolar disorder. (PMID: 11304827) Greenwood T.A. … Kelsoe J.R. (Am. J. Med. Genet. 2001) 3 4 23

Products for SLC6A3 Gene

Sources for SLC6A3 Gene

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