U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 6531, updated on 9-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1392794..1445440, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (1303172..1357405, complement)
RS_2024_09 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 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 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 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 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
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 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
 

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_2024_08

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)