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Aliases for SLC6A3 Gene

Aliases for SLC6A3 Gene

  • Solute Carrier Family 6 Member 3 2 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 3 2 3 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Dopamine), Member 3 2 3
  • Dopamine Transporter 1 2 3
  • DA Transporter 3 4
  • DAT1 3 4
  • DAT 3 4
  • Dopamine Transporter 2
  • PKDYS 3

External Ids for SLC6A3 Gene

Previous HGNC Symbols for SLC6A3 Gene

  • DAT1

Previous GeneCards Identifiers for SLC6A3 Gene

  • GC05P001491
  • GC05M001531
  • GC05M001425
  • GC05M001445
  • GC05M001423
  • GC05M001374

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 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 Monoamine Transport and Transmission across Chemical Synapses. 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.

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

Regulatory Elements for SLC6A3 Gene

Enhancers for SLC6A3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC6A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC6A3 Gene

Chromosome:
5
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

Genes around SLC6A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (Ref.14). Interacts with PRKCABP and TGFB1I1 (PubMed:11343649, PubMed:12177201). Interacts (via N-terminus) with SYNGR3 (via N-terminus). Interacts with SLC18A2. Interacts with TOR1A (ATP-bound); TOR1A regulates SLC6A3 subcellular location (By similarity).
    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

  • Glycosylation at Asn 181, Asn 188, and Asn 205
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC6A3 Gene

Domains & Families for SLC6A3 Gene

Gene Families for SLC6A3 Gene

HGNC:
IUPHAR :

Protein Domains for SLC6A3 Gene

Graphical View of Domain Structure for InterPro Entry

Q01959

UniProtKB/Swiss-Prot:

SC6A3_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily.
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:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005515 protein binding IEA,IPI 11343649
GO:0035240 dopamine binding IEA --
genes like me logo Genes that share ontologies with SLC6A3: view
genes like me logo Genes that share phenotypes with SLC6A3: view

Human Phenotype Ontology for SLC6A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A3 Gene

MGI Knock Outs for SLC6A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC6A3

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
mitochondrion 3
cytoskeleton 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for SLC6A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
genes like me logo Genes that share ontologies with SLC6A3: view

Pathways & Interactions 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:0007595 lactation IEA --
GO:0007608 sensory perception of smell IEA --
GO:0007626 locomotory behavior IEA --
GO:0015872 dopamine transport IEA,IDA 15505207
GO:0040018 positive regulation of multicellular organism growth IEA --
genes like me logo Genes that share ontologies with SLC6A3: view

No data available for SIGNOR curated interactions for SLC6A3 Gene

Drugs & Compounds for SLC6A3 Gene

(126) Drugs for SLC6A3 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mazindol Approved Pharma Inhibition, Inhibitor, inhibitor, Target 3
Amphetamine Approved, Illicit Pharma antagonist, Target, negative modulator 106
Bupropion Approved Pharma inhibitor, Target 312
Cocaine Approved, Illicit Pharma inhibitor, Target 464
Dexmethylphenidate Approved Pharma Target, inhibitor 0

(48) Additional Compounds for SLC6A3 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
BTCP maleate
207455-25-2
GBR 12783 dihydrochloride
67469-75-4
GBR 12909 dihydrochloride
67469-78-7
GBR 12935 dihydrochloride
67469-81-2

(5) Tocris Compounds for SLC6A3 Gene

Compound Action Cas Number
BTCP maleate Potent dopamine uptake inhibitor 207455-25-2
GBR 12783 dihydrochloride Potent, selective dopamine uptake inhibitor 67469-75-4
GBR 12909 dihydrochloride Selective DA uptake inhibitor. Also sigma ligand 67469-78-7
GBR 12935 dihydrochloride Selective dopamine uptake inhibitor 67469-81-2
GBR 13069 dihydrochloride Potent dopamine uptake inhibitor 67469-45-8

(1) ApexBio Compounds for SLC6A3 Gene

Compound Action Cas Number
Atomoxetine HCl Noradrenalin re-uptake inhibitor 82248-59-7
genes like me logo Genes that share compounds with SLC6A3: view

Drug Products

Transcripts for SLC6A3 Gene

mRNA/cDNA for SLC6A3 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(3) 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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Substantia nigra (x47.0).

Protein differential expression in normal tissues from HIPED for SLC6A3 Gene

This gene is overexpressed in Heart (52.2) and Frontal cortex (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC6A3: view

Protein tissue co-expression partners for SLC6A3 Gene

Primer Products

Orthologs for SLC6A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A3 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia SLC6A3 35
  • 95.28 (n)
  • 94.47 (a)
SLC6A3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a3 35
  • 87.95 (n)
  • 93.68 (a)
cow
(Bos Taurus)
Mammalia SLC6A3 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A3 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A3 36
  • 75 (a)
OneToOne
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 BG:DS03431.1 37
  • 33 (a)
CG10804 37
  • 37 (a)
CG1698 37
  • 36 (a)
CG3252 37
  • 35 (a)
CG4476 37
  • 35 (a)
CG7075 37
  • 34 (a)
DAT 37
  • 52 (a)
ine 37
  • 41 (a)
SerT 37
  • 52 (a)
DAT 36
  • 49 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mod-5 37
  • 45 (a)
snf-12 37
  • 30 (a)
snf-2 37
  • 32 (a)
snf-4 37
  • 33 (a)
snf-8 37
  • 24 (a)
snf-9 37
  • 31 (a)
dat-1 36
  • 44 (a)
ManyToMany
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

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
rs6345 - 1,421,958(-) TCCGC(A/G)GTGGC reference, missense
VAR_036158 A breast cancer sample
VAR_036159 A breast cancer sample
VAR_063771 Parkinsonism-dystonia infantile (PKDYS)
rs267607069 Parkinsonism-dystonia infantile (PKDYS) 1,411,328(-) CTACC(C/T)GGAAG reference, missense

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

Variation tolerance for SLC6A3 Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A3 Gene

Human Gene Mutation Database (HGMD)
SLC6A3

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

Disorders for SLC6A3 Gene

MalaCards: The human disease database

(59) MalaCards diseases for SLC6A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parkinsonism-dystonia, infantile
  • infantile parkinsonism-dystonia
nicotine dependence, protection against
  • nicotine dependence
cocaine abuse
  • cocaine-related disorders
akinetic mutism
  • coma vigilans
cocaine dependence
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC6A3

Genetic Association Database (GAD)
SLC6A3
Human Genome Epidemiology (HuGE) Navigator
SLC6A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A3
genes like me logo Genes that share disorders with SLC6A3: view

No data available for Genatlas for SLC6A3 Gene

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 67
  2. Polymorphisms in dopamine transporter (SLC6A3) are associated with stimulant effects of D-amphetamine: an exploratory pharmacogenetic study using healthy volunteers. (PMID: 20091113) Hamidovic A. … de Wit H. (Behav. Genet. 2010) 3 23 25 26
  3. Dopamine transporter gene associated with diminished subjective response to amphetamine. (PMID: 15602501) Lott D.C. … de Wit H. (Neuropsychopharmacology 2005) 3 23 25 26
  4. Amphetamine-induced loss of human dopamine transporter activity: an internalization-dependent and cocaine-sensitive mechanism. (PMID: 10823899) Saunders C. … Galli A. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 23 25 26
  5. Pharmacological and neurotoxicological actions mediated by bupropion and diethylpropion. (PMID: 19897080) Arias H.R. … Ali S.F. (Int. Rev. Neurobiol. 2009) 23 25 26

Products for SLC6A3 Gene

Sources for SLC6A3 Gene

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