Seroatlas · Human Serome Atlas

GABRA5

Gamma-aminobutyric acid receptor subunit alpha-5

Also known as: GBRA5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P31644
Gene
GABRA5
Ensembl
ENSG00000186297
Chromosome
15
Canonical length
462 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,Actin filaments,Cytosol

OverviewNCBI Gene

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. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

462 residues, UniProt reviewed canonical sequence.

>P31644|GABRA5
     1  MDNGMFSGFI MIKNLLLFCI SMNLSSHFGF SQMPTSSVKD ETNDNITIFT RILDGLLDGY
    61  DNRLRPGLGE RITQVRTDIY VTSFGPVSDT EMEYTIDVFF RQSWKDERLR FKGPMQRLPL
   121  NNLLASKIWT PDTFFHNGKK SIAHNMTTPN KLLRLEDDGT LLYTMRLTIS AECPMQLEDF
   181  PMDAHACPLK FGSYAYPNSE VVYVWTNGST KSVVVAEDGS RLNQYHLMGQ TVGTENISTS
   241  TGEYTIMTAH FHLKRKIGYF VIQTYLPCIM TVILSQVSFW LNRESVPART VFGVTTVLTM
   301  TTLSISARNS LPKVAYATAM DWFIAVCYAF VFSALIEFAT VNYFTKRGWA WDGKKALEAA
   361  KIKKKREVIL NKSTNAFTTG KMSHPPNIPK EQTPAGTSNT TSVSVKPSEE KTSESKKTYN
   421  SISKIDKMSR IVFPVLFGTF NLVYWATYLN REPVIKGAAS PK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRA5 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
122 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 122 nTPM
  • hippocampal formation: 60 nTPM
  • cerebral cortex: 56 nTPM
  • amygdala: 30 nTPM
  • hypothalamus: 17 nTPM
  • thymus: 8.4 nTPM

Single-cell type

  • retinal bipolar cells: 382 nCPM
  • brain inhibitory neurons: 62 nCPM
  • brain excitatory neurons: 52 nCPM
  • other brain neurons: 23 nCPM
  • retinal ganglion cells: 16 nCPM
  • corticotrophs: 15 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

  • hippocampal formation: 279 nTPM
  • cerebral cortex: 256 nTPM
  • basal ganglia: 192 nTPM
  • amygdala: 118 nTPM
  • white matter: 84 nTPM
  • thalamus: 65 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRA5.

Disease | AllUniProt

Conditions GABRA5 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 79 (DEE79) MIM:618559

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 122 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Developmental and epileptic encephalopathy, 79

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
3.23
DepMap mean gene effect
-0.14
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GABRA5 as an antibody target. Whether an autoantibody or antibody against GABRA5 could matter depends on whether native GABRA5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GABRA5 is annotated at the cell surface, where native GABRA5 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 GABRA5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GABRA5. 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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