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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC6A3 Gene

protein-coding   GIFtS: 70
GCID: GC05M001392

solute carrier family 6 (neurotransmitter transporter, dopamine),...


(Previous symbol: DAT1)
 Explore 121 diseases affiliated with
SLC6A3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC6A3    

Aliases
for SLC6A3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter, Dopamine), Member
31 2
     DA Transporter2 3
DAT11 2 3 5     PKDYS2
DAT1 2 3     Sodium-Dependent Dopamine Transporter2
Solute Carrier Family 6 Member 32 3     

External Ids:    HGNC: 110491   Entrez Gene: 65312   Ensembl: ENSG000001423197   OMIM: 1264555   UniProtKB: Q019593   

Export aliases for SLC6A3 gene to outside databases

Previous GC identifers: GC05P001491 GC05M001531 GC05M001425 GC05M001445 GC05M001423 GC05M001374


Summaries
for SLC6A3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC6A3:
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)

UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959
Function: Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into
presynaptic terminals

summary for SLC6A3:
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 (Dopamine transporter)


Genomic Views
for SLC6A3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC6A3 gene promoter:
         Pax-5   Nkx2-2   NRSF form 1   NRSF form 2   E47   YY1   POU2F1   POU2F1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC6A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p15.3   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.3

SLC6A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M001392:  view genomic region     (about GC identifiers)

Start:
 1,392,905 bp from pter      End:
 1,445,545 bp from pter
Size:
 52,641 bases      Orientation:
 minus strand

Proteins
for SLC6A3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959 (See protein sequence)
Recommended Name: Sodium-dependent dopamine transporter  
Size: 620 amino acids; 68495 Da
Subunit: Homooligomer; disulfide-linked. Interacts with PRKCABP and TGFB1I1. Interacts (via N-terminus) with SYNGR3
(via N-terminus) (By similarity). Interacts with SLC18A2 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: This protein is the target of psychomotor stimulants such as amphetamines or cocaine
Secondary accessions: A2RUN4 Q14996

Explore the universe of human proteins at neXtProt for SLC6A3: NX_Q01959

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q01959

    • SLC6A3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001035.1  
    ENSEMBL proteins: 
     ENSP00000270349   ENSP00000430324   ENSP00000429101   ENSP00000399806  
    Reactome Protein details: Q01959
    Human Recombinant Protein Products: 
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    Uscn Proteins for SLC6A3

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10823899
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0016021integral to membrane TAS8628395
    GO:0019717synaptosome ----


    SLC6A3 for ontologies           About GeneDecksing



    SLC6A3 Antibody Products: 
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    Assay Products for SLC6A3: 
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    Uscn ELISAs and CLIAs for SLC6A3

    Protein Domains /
    Families
    for SLC6A3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC6A3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000175 Na/ntran_symport
     IPR002436 Na/ntran_symport_dopamine

    Graphical View of Domain Structure for InterPro Entry Q01959

    ProtoNet protein and cluster: Q01959

    1 Blocks protein family: IPB002436 Dopamine neurotransmitter transporter signature

    UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily


    Function
    for SLC6A3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959
    Function: Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into
    presynaptic terminals

         Genatlas biochemistry entry for SLC6A3:
    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

    miRNA
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    hsa-miR-30c hsa-miR-513a-5p hsa-miR-30d hsa-miR-132 hsa-miR-30a hsa-miR-30b hsa-miR-3119 hsa-miR-212
    SwitchGear 3'UTR luciferase reporter plasmid: SLC6A3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SLC6A3

    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A3

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0005102receptor binding IEA--
    GO:0005329dopamine transmembrane transporter activity TAS10823899
    GO:0005330dopamine:sodium symporter activity IEA--
    GO:0005515protein binding IPI12958153


    SLC6A3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SLC6A3: Slc6a3tm1Mca Slc6a3tm2Mca
         13 MGI mutant phenotypes (inferred from 13 alleles) (MGI details for Slc6a3):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     integument  mortality/aging  muscle  nervous system  normal 
     reproductive system  skeleton  taste/olfaction 

    SLC6A3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC6A3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    		Transmembrane transport of small molecules0.50
    2Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    3Amine compound SLC transporters
    		Amine compound SLC transporters1.00
    		Na+/Cl- dependent neurotransmitter transporters0.63
    4Enzymatic degradation of dopamine by COMT
    		Dopamine clearance from the synaptic cleft0.67
    		Neurotransmitter Clearance In The Synaptic Cleft0.29
    5Parkinsons Disease Pathway
    		Parkinsons Disease Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC6A3
        Parkinson's Disease Pathway

    3 BioSystems Pathways for SLC6A3 
        Parkinsons Disease Pathway
    Monoamine Transport
    Alpha-synuclein signaling

    5/9        Reactome Pathways for SLC6A3 (see all 9)
        Transmission across Chemical Synapses
    Na+/Cl- dependent neurotransmitter transporters
    Dopamine clearance from the synaptic cleft
    Amine compound SLC transporters
    Neuronal System


    1         Kegg Pathway  (Kegg details for SLC6A3):
        Parkinson's disease


    SLC6A3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC6A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/16 Interacting proteins for SLC6A3 (Q019592, 3 ENSP000002703494) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPPPO948112, 3, ENSP000003537854MINT-8055798 I2D: score=1 STRING: ENSP00000353785
    DRD2P144162, 3, ENSP000003548594MINT-4789680 MINT-4789661 MINT-4789619 MINT-4789636 I2D: score=3 STRING: ENSP00000354859
    PICK1Q9NRD52, 3, ENSP000003494654MINT-73279 MINT-73284 MINT-73280 MINT-73281 I2D: score=5 STRING: ENSP00000349465
    EPN1Q9Y6I33, ENSP000004062094I2D: score=2 STRING: ENSP00000406209
    GNB2L1P632443, ENSP000003660134I2D: score=2 STRING: ENSP00000366013
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8628395
    GO:0007268synaptic transmission TAS--
    GO:0007568aging IEA--
    GO:0007595lactation IEA--
    GO:0007608sensory perception of smell IEA--


    SLC6A3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC6A3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC6A3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for SLC6A3

    Compounds for SLC6A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Indatraline hydrochloridePotent 5-HT uptake inhibitor. Also inhibits dopamine and noradrenalin uptake[86939-10-8]
    GBR 12909 dihydrochlorideSelective DA uptake inhibitor. Also sigma ligand[67469-78-7]
    GBR 12783 dihydrochloride Potent, selective dopamine uptake inhibitor [67469-57-2]
    TetrabenazinePotent inhibitor of vesicular monoamine transport[58-46-8]
    GBR 12935 dihydrochlorideSelective dopamine uptake inhibitor[76778-22-8]

    3 HMDB Compounds for SLC6A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Bupropion(+-)-Bupropion (see all 7)34841-39-9--
    Dopamine2-(3,4-Dihydroxyphenyl)ethylamine (see all 22)62-31-7--
    SodiumSodium (see all 2)7440-23-5--

    10/34 DrugBank Compounds for SLC6A3 (see all 34)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dexmethylphenidate-- 40431-64-9targetinhibitor18698001 10037500 9181638 10025684 18480678 10414438 15303308 10199939 11752352 9537821 10403500 11862378
    Methylphenidated-methylphenidate HCl (see all 10)113-45-1targetinhibitor18698001 10037500 10025684 10414438 15303308 10199939 11752352 9537821 10403500
    BupropionAmfebutamone (see all 2)34841-39-9targetinhibitor14550679 12185406 12589396 15787205 12183670 11752352 9537821 15361919
    Mazindol-- 22232-71-9targetinhibitor10082805 12213055 12213053 11248372 11719704 10980236 9537821 10823899
    Methamphetamine(+ )-methylamphetamine (see all 46)537-46-2targetnegative modulator15764732 17209801 19897077 15602501 15950014 15795321 15661631 15728379
    Amphetamine(+/-)-Benzedrine (see all 19)300-62-9targetnegative modulator15764732 15602501 15950014 15795321 15661631 15728379
    BenzatropineBenzatropina [INN-Spanish] (see all 7)86-13-5targetinhibitor16460947 11395483 10230713 11349389 11728190 11277529
    SibutramineSibutramina [Spanish] (see all 2)106650-56-0targetinhibitor10929704 19475780 11152984 15382615 10974319 15111248
    Cocaine(âˆ')-cocaine (see all 6)50-36-2targetinhibitor12672245 9537821 15351386 10420171 8797532
    DuloxetineDuloxetine HCl (see all 2)136434-34-9targetinhibitor17139284 17016423 19480470 18973814 16199241

    10/117 Novoseek chemical compound relationships for SLC6A3 gene (see all 117)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopamine 96.5 6215 7830281 (8), 17126039 (8), 9766762 (8), 8667208 (8) (see all 99)
    (123i)fp-cit 92.6 40 9396871 (3), 11315592 (3), 9744331 (2), 10319746 (2) (see all 22)
    (123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane 90.6 19 8657833 (1), 8110440 (1), 11440745 (1), 15872345 (1) (see all 16)
    spec-t 87.4 370 16447045 (4), 8965183 (3), 18067184 (3), 9293807 (3) (see all 99)
    cocaine 87 803 10403500 (7), 11809869 (7), 10419565 (7), 18565692 (6) (see all 99)
    mazindol 86.6 29 9262359 (3), 16181646 (2), 9676890 (2), 14519759 (1) (see all 19)
    methylphenidate 86.5 340 9766762 (8), 10403500 (7), 20049490 (7), 15572278 (6) (see all 99)
    2beta-carbomethoxy-3beta-(4-iodophenyl)tropane 86.3 17 7607268 (1), 8748670 (1), 10348466 (1), 7607266 (1) (see all 10)
    tropane 86.2 30 16385509 (3), 11714608 (2), 9880583 (2), 10881032 (1) (see all 20)
    benztropine 83.6 58 20230764 (4), 9880583 (3), 16460947 (3), 16923164 (3) (see all 20)

    Search CenterWatch for drugs/clinical trials and news about SLC6A3 / SC6A3 

    Transcripts
    for SLC6A3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC6A3 gene: 
    NM_001044.4  

    Unigene Cluster for SLC6A3:

    Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
    Hs.406  [show with all ESTs]
    Unigene Representative Sequence: NM_001044
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000270349(uc003jck.3) ENST00000512002 ENST00000511750 ENST00000513308
    ENST00000453492

    miRNA
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    hsa-miR-30c hsa-miR-513a-5p hsa-miR-30d hsa-miR-132 hsa-miR-30a hsa-miR-30b hsa-miR-3119 hsa-miR-212
    SwitchGear 3'UTR luciferase reporter plasmid: SLC6A3 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: SLC6A3
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK310589.1 BC132977.1 BC133003.1 EF174603.1 L24178.1 M95167.1 M96670.1 S44626.1 
    S46955.1 

    1 DOTS entry:

    DT.308308 

    18 AceView cDNA sequences:

    M96670 S46955 L24178 AI375850 NM_001044 AI769875 M95167 S44626 
    AI760659 BF509749 AI863737 AI768774 AI949407 AI091004 AA912294 AU127295 
    AW887557 AI586989 

    GeneLoc Exon Structure


    Expression
    for SLC6A3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC6A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTGTCCCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC6A3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainSubstantia Nigra pars CompactaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainSubstantia Nigra pars CompactaEmbryonic Dopaminergic NeuronsDopaminergic neurons
    BrainVentral Tegmental AreaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainVentral Tegmental AreaEmbryonic Dopaminergic NeuronsDopaminergic neurons
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Midbrain dopaminergic-like neurons (Derivation of functi...)

    See SLC6A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A3

    SOURCE GeneReport for Unigene cluster: Hs.406
        SABiosciences Expression via Pathway-Focused PCR Array including SLC6A3: 
              Parkinson's Disease in human mouse rat

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    Orthologs
    for SLC6A3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SLC6A3 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    zebrafish
    (Danio rerio)    		 Actinopterygii slc6a32 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 less 79.21(n)   80787  AF318177.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta DAT3 dopamine transporter 52(a)
    (best of 9)    		     --
    worm
    (Caenorhabditis elegans)    		 Secernentea mod-53   -- 45(a)
    (best of 6)    		   I(3035239-3047795)   --


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

    Paralogs
    for SLC6A3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A3 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A142  SLC6A52  SLC6A82  SLC6A12  SLC6A132  
    SLC6A42  SLC6A72  SLC6A22  SLC6A92  
    18/20 SIMAP similar genes for SLC6A3 using alignment to 4 protein entries:     SC6A3_HUMAN (see all proteins) (see all similar genes):
    DAT1    SLC6A4    SLC6A12    SLC6A6    SLC6A13    SLC6A2
    SLC6A7    SLC6A1    SLC6A9    SLC6A15    SLC6A11    SLC6A8
    5HTT    SLC6A5    SLC6A14    SLC6A20    SLC6A18    SLC6A19

    SLC6A3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC6A3
    PGOHUM00000262333


    Genomic Variants
    for SLC6A3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1526 NCBI SNPs in SLC6A3 are shown (see all 1526)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs38631451,2
    		C,F,H,--1373486(-) CACTAC/TGCTCC 1 -- ds500110Minor allele frequency- T:0.13NS EA NA WA 772
    rs283631761,2
    		C,--1373637(-) ATTTAC/TACAGG 1 -- ds50011Minor allele frequency- T:0.01NS 146
    rs2006008951,2
    		C--1373710(-) AAGCAA/CAATAA 1 -- ut310--------
    rs77324561,2
    		C,F,A,H,--1373740(+) AATAGA/CGATTG 1 -- ut31 ese39Minor allele frequency- C:0.04NA NS EA 818
    rs283631751,2
    		C,--1373801(-) CCCATC/TGCCTT 1 -- ut312Minor allele frequency- T:0.01NS WA 286
    rs283631741,2
    		C,F,H,--1373813(-) GAGAGC/TGGCTT 1 -- ut31 ese310Minor allele frequency- T:0.02NS NA 1236
    rs18099391,2
    		C,F,A,--1373838(-) CCTTCT/CGGCTG 1 -- ut31 ese310Minor allele frequency- C:0.18NA NS WA EA 874
    rs37972001,2
    		C,F,A,H,--1374119(-) CCTACG/ATGCTG 1 -- ut31 ese322Minor allele frequency- A:0.19NS EA NA WA CSA 2611
    rs93128411,2
    		C,H,--1374192(+) GGGCAG/ATGTGC 1 -- ut31 ese35Minor allele frequency- A:0.00NS EA 586
    rs283631721,2
    		C,F,H,--1374269(-) CTGATA/GTTGCA 1 -- ut313Minor allele frequency- G:0.00NS NA 402

    HapMap Linkage Disequilibrium report for SLC6A3 (1392905 - 1445545 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for SLC6A3
         5 CNVs: 36355 64083 92817 68966 92818
    Human Gene Mutation Database (HGMD): SLC6A3

    Locus Specific Mutation Databases (LSDB): SLC6A3

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    Disorders / Diseases
    for SLC6A3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC6A3 for disorders           About GeneDecksing

    OMIM gene information: 126455   
    OMIM disorders: 143465  188890  125480  613135  
    UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959
  • Defects in SLC6A3 are the cause of parkinsonism-dystonia infantile (PKDYS) [MIM:613135]. A neurodegenerative
    • disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global
    developmental delay, bradikinesia and pyramidal tract signs

    20/121 diseases for SLC6A3 (see all 121):    About MalaCards
    attention deficit hyperactivity disorder    nicotine dependence    nicotine dependence, protection against    alcoholism
    rem sleep behavior disorder    lesch-nyhan syndrome    bipolar disorder    gilles de la tourette syndrome
    machado-joseph disease    obsessive-compulsive disorder    parkinson's disease    dopa-responsive dystonia
    oculomotor apraxia    manic-depressive illness    amphetamine abuse    antisocial personality disorder
    extrapontine myelinolysis    dihydropteridine reductase deficiency    ataxia with oculomotor apraxia type 1    alcohol withdrawal delirium

    11 diseases from the University of Copenhagen DISEASES database for SLC6A3:
    Parkinson's disease     Attention deficit hyperactivity disorder     Toxic encephalopathy     Lewy body dementia
    Essential tremor     Substance abuse     Schizophrenia     Multiple system atrophy
    Substance dependence     Progressive supranuclear palsy     Conduct disorder

    10/87 Novoseek disease relationships for SLC6A3 gene (see all 87)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 87.5 308 9703165 (4), 17886297 (4), 11403185 (3), 9048712 (3) (see all 99)
    attention-deficit hyperactivity disorder 87.4 147 10609822 (3), 16526026 (2), 18174826 (2), 19676101 (2) (see all 97)
    parkinsonism 81.8 100 7695230 (4), 11315592 (3), 14531041 (2), 17017535 (2) (see all 66)
    cocaine abuse 71.4 28 8674469 (2), 10881032 (1), 11408518 (1), 17897630 (1) (see all 15)
    cocaine addiction 71 14 2111866 (1), 19226282 (1), 9466707 (1), 10375632 (1) (see all 11)
    essential tremor 69.7 22 17260170 (2), 11487195 (2), 18317299 (2), 14531042 (2) (see all 12)
    multiple system atrophy 66.3 18 14598060 (2), 11748733 (2), 14673877 (1), 19089314 (1) (see all 12)
    parkinsonism drug-induced 61.7 4 19252795 (1), 19131852 (1), 17969308 (1)
    movement disorders 61.1 14 12971118 (2), 17398272 (2), 19478460 (2), 12411832 (1) (see all 10)
    tourette syndrome 60.2 27 7653693 (3), 16969259 (3), 8825631 (2), 8725745 (2) (see all 14)

    Genetic Association Database (GAD): SLC6A3
    Human Genome Epidemiology (HuGE) Navigator: SLC6A3 (369 documents)

    Export disorders for SLC6A3 gene to outside databases

    Publications
    for SLC6A3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC6A3 gene, integrated from 9 sources (see all 1805):
    (articles sorted by number of sources associating them with SLC6A3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. (PubMed id 1406597)1, 2, 3, 9 Giros B....Caron M.G. (1992)
    2. Dopamine transporter gene associated with diminished subjective response to amphetamine. (PubMed id 15602501)1, 4, 7, 9 Lott D.C....de Wit H. (2005)
    3. Increased dopamine transporter availability associated with the 9-repeat allele of the SLC6A3 gene. (PubMed id 15872345)1, 4, 9 van Dyck C.H....Gelernter J. (2005)
    4. Pharmacological heterogeneity of the cloned and native human dopamine transporter: disassociation of [3H]WIN 35,428 and [3H]GBR 12,935 binding. (PubMed id 8302271)1, 2, 9 Pristupa Z.B.... Niznik H.B. (1994)
    5. The multiple LIM domain-containing adaptor protein Hic-5 synaptically colocalizes and interacts with the dopamine transporter. (PubMed id 12177201)1, 2, 9 Carneiro A.M.D.... Torres G.E. (2002)
    6. Dissecting the attention deficit hyperactivity disorder (ADHD) phenotype: sustained attention, response variability and spatial attentional asymmetries in relation to dopamine transporter (DAT1) genotype. (PubMed id 16168728)1, 4, 9 Bellgrove M.A....Robertson I.H. (2005)
    7. Association study of dopamine transporter gene and schizophrenia in Korean population using multiple single nucleotide polymorphism markers. (PubMed id 15380858)1, 4, 9 Jeong S.H....Kim Y.S. (2004)
    8. [Association studies of dopamine D4 receptor gene and dopamine transporter gene polymorphisms in Han Chinese patients with attention deficit hyperactivity disorder] (PubMed id 12947560)1, 4, 9 Qian Q....Zhou R. (2003)
    9. DRD3 and DAT1 genes in schizophrenia: an association study. (PubMed id 11104840)1, 4, 9 Joober R....Rouleau G.A. (2000)
    10. Association between dopamine transporter (DAT1) genotype, left-sided inattention, and an enhanced response to methylphenidate in attention-deficit hyperactivity disorder. (PubMed id 16123773)1, 4, 9 Bellgrove M.A....Robertson I.H. (2005)

    External Searches for SLC6A3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC6A3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6531 HGNC: 11049 AceView: SLC6A3 Ensembl:ENSG00000142319 euGenes: HUgn6531
    ECgene: SLC6A3 Kegg: 6531 H-InvDB: SLC6A3

    Other Databases showing SLC6A3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC6A3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC6A3 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/slc6a3/
    Wikipedia http://en.wikipedia.org/wiki/Dopamine_transporter

    Intellectual Property
    for SLC6A3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC6A3 gene:
    Search GeneIP for patents involving SLC6A3

    GeneCards and IP:
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