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GABRB1 - gamma-aminobutyric acid (GABA) A receptor, beta 1
Entrez Gene Name: gamma-aminobutyric acid (GABA) A receptor, beta 1
Synonyms: AW061132, B230208N19RIK, GABA A RECEPTOR SUBUNIT BETA1, GABRB1, GARB1

Gene Summary

  • Human (2560): 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]
  • Rat (25450): subunit of GABAA receptors,which induce inhibitory postsynaptic currents; may regulate synaptic transmission in the prefrontal cortex [RGD]

Cell Regulation

Regulates:
  • chloride
View all 1 in IPA
Regulated by:
  • GABA
  • GNB2L1
  • clonazepam
View all 22 in IPA
Binds:
  • eszopiclone
  • isoflurane
  • lorazepam
View all 40 in IPA
Role in cell:
  • No Data Available
Disease:
  • insomnia
  • schizophrenia
  • epilepsy
View all 41 in IPA

Biological Process

chloride transport, gamma-aminobutyric acid signaling pathway, ion transport, signal transduction, transport

Cellular Components

cell junction, integral to membrane, integral to plasma membrane, membrane, plasma membrane, postsynaptic membrane, synapse

Literature References

  • 17554300Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 2007 06 7;447(7145):661-78
  • 12151513Brandon NJ, Jovanovic JN, Smart TG, Moss SJ. Receptor for activated C kinase-1 facilitates protein kinase C-dependent phosphorylation and functional modulation of GABA(A) receptors with the activation of G-protein-coupled receptors.J Neurosci 2002 Aug 1;22(15):6353-61
  • 8183949Wingrove PB, Wafford KA, Bain C, Whiting PJ. The modulatory action of loreclezole at the gamma-aminobutyric acid type A receptor is determined by a single amino acid in the beta 2 and beta 3 subunit.Proc Natl Acad Sci U S A 1994 May 10;91(10):4569-73
  • View 206 categorized literature findings and their references in IPA

Molecular Functions

chloride channel activity, chloride ion binding, extracellular ligand-gated ion channel activity, GABA-A receptor activity, ion channel activity, ligand-gated ion channel activity, neurotransmitter receptor activity, receptor activity

Protein Domains

extracellular ligand binding domain, GABA-A receptor, intracellular domain, intracellular loop, ion channel, ligand-gated ion channel, neurotransmitter-gated ion channel ligand binding domain

Subcellular Locations

cellular membrane, plasma membrane