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    SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 [ Homo sapiens (human) ]

    Gene ID: 6531, updated on 26-Jul-2015
    Official Symbol
    SLC6A3provided by HGNC
    Official Full Name
    solute carrier family 6 (neurotransmitter transporter), member 3provided by HGNC
    Primary source
    HGNC:HGNC:11049
    See related
    Ensembl:ENSG00000142319; HPRD:00543; MIM:126455; Vega:OTTHUMG00000131016
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAT; DAT1; PKDYS
    Summary
    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]
    Orthologs
    See SLC6A3 in Epigenomics, MapViewer
    Location:
    5p15.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (1392790..1445428, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1392905..1445543, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CLPTM1-like Neighboring gene long intergenic non-protein coding RNA 1511 Neighboring gene lysophosphatidylcholine acyltransferase 1 Neighboring gene microRNA 6075 Neighboring gene succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Infantile Parkinsonism-dystonia
    MedGen: C2751067 OMIM: 613135 GeneReviews: Not available
    Compare labs
    Tobacco addiction, susceptibility to
    MedGen: C1861063 OMIM: 188890 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 and HIV-1 Tat decrease dopamine uptake into striatal synaptosomes by decreasing the V(max) of the dopamine transporter (DAT); 17beta-Estradiol prevents the oxidative stress and loss of DAT function associated with gp120/Tat neurotoxicity PubMed
    Tat tat Mutation of either Tyr88 (Y88F) or Lys92 (K92M) in human dopamine transporter (hDAT) attenuates HIV-1 Tat-induced inhibition of hDAT function in cells PubMed
    tat Co-immunoprecipitation analysis indicates that HIV-1 Tat directly binds to human dopamine transporter (hDAT). The hDAT Y470H mutant attenuates Tat-induced reduction of hDAT function PubMed
    tat HIV-1 Tat allosterically modulates DAT activity in HEK293 cells PubMed
    tat HIV-1 Tat increases plasma membrane (PM) dopamine transporter (DAT) activity and calpain protease activity at the PM PubMed
    tat HIV-1 gp120 and HIV-1 Tat decrease dopamine uptake into striatal synaptosomes by decreasing the V(max) of the dopamine transporter (DAT); 17beta-Estradiol prevents the oxidative stress and loss of DAT function associated with gp120/Tat neurotoxicity PubMed

    Go to the HIV-1, Human Interaction Database

    • Alcoholism, organism-specific biosystem (from KEGG)
      Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
    • Alcoholism, conserved biosystem (from KEGG)
      Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
    • Alpha-synuclein signaling, organism-specific biosystem (from Pathway Interaction Database)
      Alpha-synuclein signaling, organism-specific biosystem
      Alpha-synuclein signaling
    • Amphetamine addiction, organism-specific biosystem (from KEGG)
      Amphetamine addiction, organism-specific biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
    • Amphetamine addiction, conserved biosystem (from KEGG)
      Amphetamine addiction, conserved biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
    • Cocaine addiction, organism-specific biosystem (from KEGG)
      Cocaine addiction, organism-specific biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
    • Cocaine addiction, conserved biosystem (from KEGG)
      Cocaine addiction, conserved biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
    • Dopamine clearance from the synaptic cleft, organism-specific biosystem (from REACTOME)
      Dopamine clearance from the synaptic cleft, organism-specific biosystemThe human gene SLC6A3 encodes the sodium-dependent dopamine transporter, DAT which mediates the re-uptake of dopamine from the synaptic cleft (Vandenbergh DJ et al, 2000). Dopamine can then be degrad...
    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Dopaminergic synapse, conserved biosystem (from KEGG)
      Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Monoamine Transport, organism-specific biosystem (from WikiPathways)
      Monoamine Transport, organism-specific biosystem
      Monoamine Transport
    • Na+/Cl- dependent neurotransmitter transporters, organism-specific biosystem (from REACTOME)
      Na+/Cl- dependent neurotransmitter transporters, organism-specific biosystemThe SLC6 gene family encodes proteins that mediate neurotransmitter uptake thus terminating a synaptic signal. The proteins mediate transport of GABA (gamma-aminobutyric acid), norepinephrine, dopami...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystem (from REACTOME)
      Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystemNeurotransmitter released in the synaptic cleft binds to specific receptors on the post-synaptic cell and the excess of the neurotransmitter is cleared to prevent over activation of the post-synapti...
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
      Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    dopamine binding IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    monoamine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adenohypophysis development IEA
    Inferred from Electronic Annotation
    more info
     
    ammonium transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ammonium transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ammonium transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine uptake involved in synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lactation IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    monoamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurotransmitter biosynthetic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    prepulse inhibition IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    flotillin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    sodium-dependent dopamine transporter
    Names
    DA transporter
    dopamine transporter 1
    solute carrier family 6 (neurotransmitter transporter, dopamine), member 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015885.1 RefSeqGene

      Range
      5001..57639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001044.4NP_001035.1  sodium-dependent dopamine transporter

      See identical proteins and their annotated locations for NP_001035.1

      Status: REVIEWED

      Source sequence(s)
      AC026748, AI586989, EF174603
      Consensus CDS
      CCDS3863.1
      UniProtKB/Swiss-Prot
      Q01959
      Related
      ENSP00000270349, OTTHUMP00000161635, ENST00000270349, OTTHUMT00000253650
      Conserved Domains (1) summary
      cd11514
      Location:60614
      SLC6sbd_DAT1; Na(+)- and Cl(-)-dependent dopamine transporter 1; solute-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

      Range
      1392790..1445428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_1

    Genomic

    1. NT_187547.1 Reference GRCh38.p2 ALT_REF_LOCI_1

      Range
      64345..121219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      1392820..1445528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)