Seroatlas · Human Serome Atlas

GABRB1

Gamma-aminobutyric acid receptor subunit beta-1

Also known as: GBRB1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P18505
Gene
GABRB1
Ensembl
ENSG00000163288
Chromosome
4
Canonical length
474 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

474 residues, UniProt reviewed canonical sequence.

>P18505|GABRB1
     1  MWTVQNRESL GLLSFPVMIT MVCCAHSTNE PSNMSYVKET VDRLLKGYDI RLRPDFGGPP
    61  VDVGMRIDVA SIDMVSEVNM DYTLTMYFQQ SWKDKRLSYS GIPLNLTLDN RVADQLWVPD
   121  TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE
   181  SYGYTTDDIE FYWNGGEGAV TGVNKIELPQ FSIVDYKMVS KKVEFTTGAY PRLSLSFRLK
   241  RNIGYFILQT YMPSTLITIL SWVSFWINYD ASAARVALGI TTVLTMTTIS THLRETLPKI
   301  PYVKAIDIYL MGCFVFVFLA LLEYAFVNYI FFGKGPQKKG ASKQDQSANE KNKLEMNKVQ
   361  VDAHGNILLS TLEIRNETSG SEVLTSVSDP KATMYSYDSA SIQYRKPLSS REAYGRALDR
   421  HGVPSKGRIR RRASQLKVKI PDLTDVNSID KWSRMFFPIT FSLFNVVYWL YYVH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRB1 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)
0.4
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 13 nTPM
  • basal ganglia: 3.7 nTPM
  • heart muscle: 3.4 nTPM
  • amygdala: 2.4 nTPM
  • retina: 2.3 nTPM
  • hypothalamus: 1.4 nTPM

Single-cell type

  • bergmann glia: 2,573 nCPM
  • astrocytes: 1,326 nCPM
  • other brain neurons: 739 nCPM
  • brain inhibitory neurons: 654 nCPM
  • brain excitatory neurons: 482 nCPM
  • lactotrophs: 477 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: 105 nTPM
  • hypothalamus: 104 nTPM
  • basal ganglia: 101 nTPM
  • amygdala: 90 nTPM
  • hippocampal formation: 84 nTPM
  • midbrain: 67 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRB1.

Disease | AllUniProt

Conditions GABRB1 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 45 (DEE45) MIM:617153

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 446 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Developmental and epileptic encephalopathy, 45

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)
0.31
gnomAD pLI
0.98
gnomAD missense Z
2.65
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 GABRB1 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 GABRB1 as an antibody target. Whether an autoantibody or antibody against GABRB1 could matter depends on whether native GABRB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GABRB1 is annotated at the cell surface, where native GABRB1 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 GABRB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GABRB1. 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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