Seroatlas · Human Serome Atlas

GABRA1

Gamma-aminobutyric acid receptor subunit alpha-1

Also known as: EJM5, GBRA1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P14867
Gene
GABRA1
Ensembl
ENSG00000022355
Chromosome
5
Canonical length
456 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Plasma membrane

OverviewNCBI Gene

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

456 residues, UniProt reviewed canonical sequence.

>P14867|GABRA1
     1  MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL DGYDNRLRPG
    61  LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE RLKFKGPMTV LRLNNLMASK
   121  IWTPDTFFHN GKKSVAHNMT MPNKLLRITE DGTLLYTMRL TVRAECPMHL EDFPMDAHAC
   181  PLKFGSYAYT RAEVVYEWTR EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM
   241  TTHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA
   301  RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV PEKPKKVKDP
   361  LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV KPETKPPEPK KTFNSVSKID
   421  RLSRIAFPLL FGIFNLVYWA TYLNREPQLK APTPHQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRA1 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
4
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
52 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 52 nTPM
  • cerebellum: 45 nTPM
  • retina: 17 nTPM
  • hippocampal formation: 9.9 nTPM
  • hypothalamus: 8.2 nTPM
  • amygdala: 8 nTPM

Single-cell type

  • retinal bipolar cells: 225 nCPM
  • brain excitatory neurons: 184 nCPM
  • brain inhibitory neurons: 157 nCPM
  • other brain neurons: 72 nCPM
  • adrenal medulla cells: 21 nCPM
  • retinal amacrine cells: 21 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

  • cerebral cortex: 240 nTPM
  • white matter: 168 nTPM
  • cerebellum: 148 nTPM
  • hypothalamus: 134 nTPM
  • basal ganglia: 99 nTPM
  • thalamus: 93 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRA1.

Disease | AllUniProt

Conditions GABRA1 is implicated in, by any mechanism.

  • Epilepsy, childhood absence 4 (ECA4) MIM:611136
  • Epilepsy, idiopathic generalized 13 (EIG13) MIM:611136
  • Juvenile myoclonic epilepsy 5 (EJM5) MIM:611136
  • Developmental and epileptic encephalopathy 19 (DEE19) MIM:615744

Disease | GeneticClinVar

76 pathogenic / likely-pathogenic of 782 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)
0.37
gnomAD pLI
0.91
gnomAD missense Z
3.15
DepMap mean gene effect
0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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 GABRA1 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 GABRA1 as an antibody target. Whether an autoantibody or antibody against GABRA1 could matter depends on whether native GABRA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GABRA1 is annotated at the cell surface, where native GABRA1 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 GABRA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GABRA1. 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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