Seroatlas · Human Serome Atlas

SLC6A3

Sodium-dependent dopamine transporter

Also known as: DAT, DAT1, SC6A3_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q01959
Gene
SLC6A3
Ensembl
ENSG00000142319
Chromosome
5
Canonical length
620 aa
Protein class
Disease related genes, FDA approved drug targets, Metabolic proteins, Predicted membrane proteins, Transporters
Subcellular location
Vesicles
Quaternary structure
Homooligomer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

620 residues, UniProt reviewed canonical sequence.

>Q01959|SLC6A3
     1  MSKSKCSVGL MSSVVAPAKE PNAVGPKEVE LILVKEQNGV QLTSSTLTNP RQSPVEAQDR
    61  ETWGKKIDFL LSVIGFAVDL ANVWRFPYLC YKNGGGAFLV PYLLFMVIAG MPLFYMELAL
   121  GQFNREGAAG VWKICPILKG VGFTVILISL YVGFFYNVII AWALHYLFSS FTTELPWIHC
   181  NNSWNSPNCS DAHPGDSSGD SSGLNDTFGT TPAAEYFERG VLHLHQSHGI DDLGPPRWQL
   241  TACLVLVIVL LYFSLWKGVK TSGKVVWITA TMPYVVLTAL LLRGVTLPGA IDGIRAYLSV
   301  DFYRLCEASV WIDAATQVCF SLGVGFGVLI AFSSYNKFTN NCYRDAIVTT SINSLTSFSS
   361  GFVVFSFLGY MAQKHSVPIG DVAKDGPGLI FIIYPEAIAT LPLSSAWAVV FFIMLLTLGI
   421  DSAMGGMESV ITGLIDEFQL LHRHRELFTL FIVLATFLLS LFCVTNGGIY VFTLLDHFAA
   481  GTSILFGVLI EAIGVAWFYG VGQFSDDIQQ MTGQRPSLYW RLCWKLVSPC FLLFVVVVSI
   541  VTFRPPHYGA YIFPDWANAL GWVIATSSMA MVPIYAAYKF CSLPGSFREK LAYAIAPEKD
   601  RELVDRGEVR QFTLRHWLKV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC6A3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
93 nTPM

Expression across tissuesHPA

Tissue

  • midbrain: 93 nTPM
  • hypothalamus: 1.4 nTPM
  • amygdala: 1.1 nTPM
  • thyroid gland: 0.7 nTPM
  • kidney: 0.5 nTPM
  • adipose tissue: 0.4 nTPM

Single-cell type

  • other brain neurons: 8.1 nCPM
  • podocytes: 1 nCPM
  • proximal tubule cells: 0.8 nCPM
  • loop of henle epithelial cells: 0.5 nCPM
  • late spermatids: 0.4 nCPM
  • mast cells: 0.2 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • midbrain: 134 nTPM
  • thalamus: 4.7 nTPM
  • hypothalamus: 0.8 nTPM
  • pons: 0.7 nTPM
  • cerebral cortex: 0.4 nTPM
  • amygdala: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC6A3.

Disease | AllUniProt

Conditions SLC6A3 is implicated in, by any mechanism.

  • Parkinsonism-dystonia 1, infantile-onset (PKDYS1) MIM:613135

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 565 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Classic dopamine transporter deficiency syndrome
  • Parkinsonism-dystonia, infantile
  • SLC6A3-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.25
gnomAD pLI
1
gnomAD missense Z
2.29
DepMap mean gene effect
0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC6A3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC6A3 as an antibody target. Whether an autoantibody or antibody against SLC6A3 could matter depends on whether native SLC6A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC6A3 is annotated at the cell surface, where native SLC6A3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC6A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC6A3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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