GABRB1

Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 gene.^[5]

GABRB1
Identifiers
Aliases	GABRB1, gamma-aminobutyric acid type A receptor beta1 subunit, EIEE45, gamma-aminobutyric acid type A receptor subunit beta1, DEE45
External IDs	OMIM: 137190; MGI: 95619; HomoloGene: 20221; GeneCards: GABRB1; OMA:GABRB1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p12 Start 46,993,723 bp[1] End 47,426,447 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 C3.2|5 38.18 cM Start 71,815,456 bp[2] End 72,306,380 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 middle temporal gyrus entorhinal cortex pars reticulata dorsal motor nucleus of vagus nerve Parietal Lobe endothelial cell postcentral gyrus Region I of hippocampus proper pars compacta Top expressed in CA3 field nucleus of stria terminalis subiculum paraventricular nucleus of hypothalamus substantia nigra ventromedial nucleus anterior amygdaloid area medial dorsal nucleus lateral hypothalamus Region I of hippocampus proper More reference expression data BioGPS n/a
Gene ontology Molecular function anion channel activity ion channel activity chloride channel activity extracellular ligand-gated ion channel activity ligand-gated ion channel activity GABA-gated chloride ion channel activity GABA-A receptor activity transmembrane signaling receptor activity GABA receptor binding transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cellular component cytoplasm integral component of membrane postsynaptic membrane nuclear envelope membrane receptor complex synapse integral component of plasma membrane chloride channel complex cell junction dendrite nucleus plasma membrane GABA-A receptor complex neuron projection GABA-ergic synapse Biological process cellular response to histamine response to progesterone ion transport central nervous system neuron development ovulation cycle chloride transport response to toxic substance signal transduction chloride transmembrane transport gamma-aminobutyric acid signaling pathway ion transmembrane transport chemical synaptic transmission regulation of membrane potential nervous system process regulation of postsynaptic membrane potential Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2560 14400 Ensembl ENSG00000163288 ENSMUSG00000029212 UniProt P18505 P50571 RefSeq (mRNA) NM_000812 NM_008069 NM_001370968 RefSeq (protein) NP_000803 NP_032095 NP_001357897 Location (UCSC) Chr 4: 46.99 – 47.43 Mb Chr 5: 71.82 – 72.31 Mb PubMed search [3] [4]
Wikidata
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Function

The gamma-aminobutyric acid A receptor (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 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.^[5]

Clinical significance

Mice bearing mutant copies of this gene have been shown to be vulnerable to binge drinking of alcohol.^[6]

See also

• GABAA receptor