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

    Gene ID: 6531, updated on 17-Jun-2024

    Summary

    Official Symbol
    SLC6A3provided by HGNC
    Official Full Name
    solute carrier family 6 member 3provided by HGNC
    Primary source
    HGNC:HGNC:11049
    See related
    Ensembl:ENSG00000142319 MIM:126455; AllianceGenome:HGNC:11049
    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; PKDYS1
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC6A3 in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1392794..1445440, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (1303172..1357405, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1392909..1445555, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:1320136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1325297-1325797 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:1327650-1328264 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:1328265-1328877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:1330840 Neighboring gene CLPTM1 like Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:1341101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1357815-1358370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1358371-1358926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1358927-1359482 Neighboring gene long intergenic non-protein coding RNA 1511 Neighboring gene MT-CO2 pseudogene 32 Neighboring gene Sharpr-MPRA regulatory region 8068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1386240-1386808 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:1404958-1406157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1412675-1413175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1414882-1415854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1415855-1416827 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1422785-1423310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1438947-1439628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1446193-1446692 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:1455983-1457182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1464924-1465753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1467037-1467537 Neighboring gene lysophosphatidylcholine acyltransferase 1 Neighboring gene uncharacterized LOC124901162 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:1494052-1495251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1500365-1501256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1501257-1502147 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1502148-1503038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1508748-1509266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1509267-1509784 Neighboring gene microRNA 6075

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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
    Nef nef HIV-1 Nef-mediated downregulation of HLA (MHCI) may be affected by/inhibited by SLC6A3 as demonstrated by siRNA genome-wide screen [in HeLa cells) PubMed
    Tat tat HIV-1 Tat inhibits SLC6A3 (hDAT) and dopamine uptake PubMed
    tat A three-dimensional structural model for HIV-1 Tat binding with human dopamine transporter is developed by computational modeling and molecular dynamics simulations PubMed
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amine binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables dopamine binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables dopamine:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dopamine:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dopamine:sodium symporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables heterocyclic compound binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables monoamine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables monoamine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables monoamine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables neurotransmitter transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables norepinephrine:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase 2A binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in adenohypophysis development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cognition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dopamine uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dopamine uptake ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dopamine uptake involved in synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dopamine uptake involved in synaptic transmission TAS
    Traceable Author Statement
    more info
     
    involved_in hyaloid vascular plexus regression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lactation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within monoamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotransmitter transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in norepinephrine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in norepinephrine uptake IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prepulse inhibition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to iron ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon terminus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in dopaminergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of flotillin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuronal cell body membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in presynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    sodium-dependent dopamine transporter
    Names
    DA transporter
    dopamine transporter 1
    solute carrier family 6 (neurotransmitter transporter), member 3
    solute carrier family 6 (neurotransmitter transporter, dopamine), member 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4989..57635
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001044.5NP_001035.1  sodium-dependent dopamine transporter

      See identical proteins and their annotated locations for NP_001035.1

      Status: REVIEWED

      Source sequence(s)
      AC026748, EF174603
      Consensus CDS
      CCDS3863.1
      UniProtKB/Swiss-Prot
      A2RUN4, Q01959, Q14996
      Related
      ENSP00000270349.9, ENST00000270349.12
      Conserved Domains (1) summary
      cd11514
      Location:60614
      SLC6sbd_DAT1; Na(+)- and Cl(-)-dependent dopamine transporter 1; solute-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      1392794..1445440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187547.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      64333..121215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      1303172..1357405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)