GABRB1

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
View/Edit Human View/Edit Mouse

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

Contents

Function

The gamma-aminobutyric acid A receptor (GABAA 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 GABAA 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

Related Research Articles

<span class="mw-page-title-main">GABA receptor</span> Receptors that respond to gamma-aminobutyric acid

The GABA receptors are a class of receptors that respond to the neurotransmitter gamma-aminobutyric acid (GABA), the chief inhibitory compound in the mature vertebrate central nervous system. There are two classes of GABA receptors: GABAA and GABAB. GABAA receptors are ligand-gated ion channels ; whereas GABAB receptors are G protein-coupled receptors, also called metabotropic receptors.

<span class="mw-page-title-main">GABBR1</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid B receptor, 1 (GABAB1), is a G-protein coupled receptor subunit encoded by the GABBR1 gene.

<span class="mw-page-title-main">Gamma-aminobutyric acid receptor subunit gamma-2</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene.

<span class="mw-page-title-main">Gamma-aminobutyric acid receptor subunit alpha-1</span> Protein-coding gene in humans

Gamma-aminobutyric acid receptor subunit alpha-1 is a protein that in humans is encoded by the GABRA1 gene.

<span class="mw-page-title-main">GABRB3</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit beta-3 is a protein that in humans is encoded by the GABRB3 gene. It is located within the 15q12 region in the human genome and spans 250kb. This gene includes 10 exons within its coding region. Due to alternative splicing, the gene codes for many protein isoforms, all being subunits in the GABAA receptor, a ligand-gated ion channel. The beta-3 subunit is expressed at different levels within the cerebral cortex, hippocampus, cerebellum, thalamus, olivary body and piriform cortex of the brain at different points of development and maturity. GABRB3 deficiencies are implicated in many human neurodevelopmental disorders and syndromes such as Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. The effects of methaqualone and etomidate are mediated through GABBR3 positive allosteric modulation.

<span class="mw-page-title-main">GABBR2</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid (GABA) B receptor, 2 (GABAB2) is a G-protein coupled receptor subunit encoded by the GABBR2 gene in humans.

<span class="mw-page-title-main">PRKAB1</span> Protein-coding gene in the species Homo sapiens

5'-AMP-activated protein kinase subunit beta-1 is an enzyme that in humans is encoded by the PRKAB1 gene.

<span class="mw-page-title-main">GABRB2</span> Protein-coding gene in the species Homo sapiens

The GABAA beta-2 subunit is a protein that in humans is encoded by the GABRB2 gene. It combines with other subunits to form the ionotropic GABAA receptors. GABA system is the major inhibitory system in the brain, and its dominant GABAA receptor subtype is composed of α1, β2, and γ2 subunits with the stoichiometry of 2:2:1, which accounts for 43% of all GABAA receptors. Alternative splicing of the GABRB2 gene leads at least to four isoforms, viz. β2-long (β2L) and β2-short. Alternatively spliced variants displayed similar but non-identical electrophysiological properties. GABRB2 is subjected to positive selection and known to be both an alternative splicing and a recombination hotspot; it is regulated via epigenetic regulation including imprinting and gene and promoter methylation GABRB2 has been associated with a number of neuropsychiatric disorders, and found to display altered expression in cancer.

<span class="mw-page-title-main">GNB2</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 is a protein that in humans is encoded by the GNB2 gene.

<span class="mw-page-title-main">GABRR1</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit rho-1 is a protein that in humans is encoded by the GABRR1 gene.

<span class="mw-page-title-main">GABRA6</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit alpha-6 is a protein that in humans is encoded by the GABRA6 gene.

<span class="mw-page-title-main">GABRA3</span> Protein-coding gene in humans

Gamma-aminobutyric acid receptor subunit alpha-3 is a protein that in humans is encoded by the GABRA3 gene.

<span class="mw-page-title-main">GABRA5</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid (GABA) A receptor, alpha 5, also known as GABRA5, is a protein which in humans is encoded by the GABRA5 gene.

<span class="mw-page-title-main">GABRE</span> Protein-coding gene in humans

Gamma-aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABRE gene.

<span class="mw-page-title-main">GABRA4</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.

<span class="mw-page-title-main">GABRR2</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit rho-2 is a protein that in humans is encoded by the GABRR2 gene.

<span class="mw-page-title-main">GABRG3</span> Protein-coding gene in the species Homo sapiens

GABAA receptor-γ3, also known as GABRG3, is a protein which in humans is encoded by the GABRG3 gene.

<span class="mw-page-title-main">GABRP</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit pi is a protein that in humans is encoded by the GABRP gene.

<span class="mw-page-title-main">GABRG1</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit gamma-1 is a protein that in humans is encoded by the GABRG1 gene. The protein encoded by this gene is a subunit of the GABAA receptor.

<span class="mw-page-title-main">GABRQ</span> Protein-coding gene in humans

Gamma-aminobutyric acid receptor subunit theta is a protein that in humans is encoded by the GABRQ gene. The protein encoded by this gene is a subunit of the GABAA receptor.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163288 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029212 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1".
  6. Anstee QM, Knapp S, Maguire EP, Hosie AM, Thomas P, Mortensen M, Bhome R, Martinez A, Walker SE, Dixon CI, Ruparelia K, Montagnese S, Kuo YT, Herlihy A, Bell JD, Robinson I, Guerrini I, McQuillin A, Fisher EM, Ungless MA, Gurling HM, Morgan MY, Brown SD, Stephens DN, Belelli D, Lambert JJ, Smart TG, Thomas HC (November 2013). "Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition". Nat Commun. 4: 2816. Bibcode:2013NatCo...4.2816A. doi:10.1038/ncomms3816. PMC   3843143 . PMID   24281383.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.