GABRE

Last updated
GABRE
Identifiers
Aliases GABRE , gamma-aminobutyric acid type A receptor epsilon subunit, gamma-aminobutyric acid type A receptor subunit epsilon
External IDs OMIM: 300093 HomoloGene: 68425 GeneCards: GABRE
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004961
NM_021984
NM_021987
NM_021990

n/a

RefSeq (protein)

NP_004952

n/a

Location (UCSC) Chr X: 151.95 – 151.97 Mb n/a
PubMed search [2] n/a
Wikidata
View/Edit Human

Gamma-aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABRE gene. [3] [4] [5]

Contents

The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants encoding different isoforms have been identified. [5]

Brainstem expression of ε subunit-containing GABAA receptors is upregulated during pregnancy, particularly in the ventral respiratory group. [6]

See also

Related Research Articles

γ-Aminobutyric acid Main inhibitory neurotransmitter in the mammalian brain

γ-Aminobutyric acid, or GABA, is the chief inhibitory neurotransmitter in the developmentally mature mammalian central nervous system. Its principal role is reducing neuronal excitability throughout the nervous system.

<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.

The GABAA-rho receptor is a subclass of GABAA receptors composed entirely of rho (ρ) subunits. GABAA receptors including those of the ρ-subclass are ligand-gated ion channels responsible for mediating the effects of gamma-amino butyric acid (GABA), the major inhibitory neurotransmitter in the brain. The GABAA-ρ receptor, like other GABAA receptors, is expressed in many areas of the brain, but in contrast to other GABAA receptors, the GABAA-ρ receptor has especially high expression in the retina.

<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">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">GABRB1</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 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">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">GABRD</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit delta is a protein that in humans is encoded by the GABRD gene. In the mammalian brain, the delta (δ) subunit forms specific GABAA receptor subtypes by co-assembly leading to δ subunit containing GABAA receptors.

<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: ENSG00000102287 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. Davies PA, Hanna MC, Hales TG, Kirkness EF (Mar 1997). "Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit". Nature. 385 (6619): 820–823. Bibcode:1997Natur.385..820D. doi:10.1038/385820a0. PMID   9039914. S2CID   4241881.
  4. Garret M, Bascles L, Boue-Grabot E, Sartor P, Charron G, Bloch B, Margolskee RF (Apr 1997). "An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system" (PDF). J Neurochem. 68 (4): 1382–1389. doi: 10.1046/j.1471-4159.1997.68041382.x . PMID   9084408.
  5. 1 2 "Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon".
  6. Hengen KB, Nelson NR, Stang KM, Johnson SM, Crader SM, Watters JJ, Mitchell GS, Behan M (2012). "Increased GABA(A) receptor ε-subunit expression on ventral respiratory column neurons protects breathing during pregnancy". PLOS ONE. 7 (1): e30608. Bibcode:2012PLoSO...730608H. doi: 10.1371/journal.pone.0030608 . PMC   3269439 . PMID   22303446.

Further reading

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