Seroatlas · Human Serome Atlas

SLC6A1

Sodium- and chloride-dependent GABA transporter 1

Also known as: GABATHG, GABATR, GAT-1, GAT1, hGAT-1, SC6A1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P30531
Gene
SLC6A1
Ensembl
ENSG00000157103
Chromosome
3
Canonical length
599 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]

Canonical amino-acid sequenceUniProt

599 residues, UniProt reviewed canonical sequence.

>P30531|SLC6A1
     1  MATNGSKVAD GQISTEVSEA PVANDKPKTL VVKVQKKAAD LPDRDTWKGR FDFLMSCVGY
    61  AIGLGNVWRF PYLCGKNGGG AFLIPYFLTL IFAGVPLFLL ECSLGQYTSI GGLGVWKLAP
   121  MFKGVGLAAA VLSFWLNIYY IVIISWAIYY LYNSFTTTLP WKQCDNPWNT DRCFSNYSMV
   181  NTTNMTSAVV EFWERNMHQM TDGLDKPGQI RWPLAITLAI AWILVYFCIW KGVGWTGKVV
   241  YFSATYPYIM LIILFFRGVT LPGAKEGILF YITPNFRKLS DSEVWLDAAT QIFFSYGLGL
   301  GSLIALGSYN SFHNNVYRDS IIVCCINSCT SMFAGFVIFS IVGFMAHVTK RSIADVAASG
   361  PGLAFLAYPE AVTQLPISPL WAILFFSMLL MLGIDSQFCT VEGFITALVD EYPRLLRNRR
   421  ELFIAAVCII SYLIGLSNIT QGGIYVFKLF DYYSASGMSL LFLVFFECVS ISWFYGVNRF
   481  YDNIQEMVGS RPCIWWKLCW SFFTPIIVAG VFIFSAVQMT PLTMGNYVFP KWGQGVGWLM
   541  ALSSMVLIPG YMAYMFLTLK GSLKQRIQVM VQPSEDIVRP ENGPEQPQAG SSTSKEAYI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC6A1 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
12
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
86 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 86 nTPM
  • liver: 82 nTPM
  • basal ganglia: 72 nTPM
  • amygdala: 71 nTPM
  • midbrain: 51 nTPM
  • hippocampal formation: 50 nTPM

Single-cell type

  • medullary thymic epithelial cells: 372 nCPM
  • retinal amacrine cells: 325 nCPM
  • astrocytes: 288 nCPM
  • brain inhibitory neurons: 243 nCPM
  • oligodendrocyte progenitor cells: 222 nCPM
  • bergmann glia: 212 nCPM

Immune cell

  • eosinophil: 0.1 nTPM
  • memory B-cell: 0.1 nTPM
  • naive B-cell: 0.1 nTPM
  • neutrophil: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM

Brain region

  • thalamus: 211 nTPM
  • cerebral cortex: 192 nTPM
  • midbrain: 189 nTPM
  • basal ganglia: 172 nTPM
  • hypothalamus: 169 nTPM
  • amygdala: 165 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC6A1.

Disease | AllUniProt

Conditions SLC6A1 is implicated in, by any mechanism.

Disease | GeneticClinVar

187 pathogenic / likely-pathogenic of 1,032 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.15
gnomAD pLI
1
gnomAD missense Z
4.18
DepMap mean gene effect
0.08
DepMap dependency class
none

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 SLC6A1 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 SLC6A1 as an antibody target. Whether an autoantibody or antibody against SLC6A1 could matter depends on whether native SLC6A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC6A1 is annotated at the cell surface, where native SLC6A1 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 SLC6A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC6A1. 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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