Gamma-aminobutyric acid receptor subunit alpha-1

GABRA1
Identifiers
Aliases	GABRA1 , ECA4, EIEE19, EJM, EJM5, gamma-aminobutyric acid type A receptor alpha1 subunit, gamma-aminobutyric acid type A receptor subunit alpha1, DEE19
External IDs	OMIM: 137160; MGI: 95613; HomoloGene: 629; GeneCards: GABRA1; OMA:GABRA1 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	161,899,981 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	42,073,757 bp
RNA expression pattern
	Top expressed in
	lateral nuclear group of thalamus; ; endothelial cell; ; middle temporal gyrus; ; Brodmann area 23; ; superior frontal gyrus; ; primary visual cortex; ; postcentral gyrus; ; frontal pole; ; external globus pallidus; ; prefrontal cortex;
	Top expressed in
	lobe of cerebellum; ; cerebellar vermis; ; deep cerebellar nuclei; ; globus pallidus; ; lateral septal nucleus; ; lateral hypothalamus; ; ventral tegmental area; ; medial geniculate nucleus; ; dorsal tegmental nucleus; ; medial dorsal nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ion channel activity ; GABA receptor activity ; chloride channel activity ; extracellular ligand-gated ion channel activity ; GABA-gated chloride ion channel activity ; GABA-A receptor activity ; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential ; transmembrane signaling receptor activity ; inhibitory extracellular ligand-gated ion channel activity ; benzodiazepine receptor activity ;
Cellular component	integral component of membrane ; postsynaptic membrane ; membrane ; plasma membrane ; integral component of plasma membrane ; synapse ; chloride channel complex ; cell junction ; GABA receptor complex ; cytoplasmic vesicle membrane ; cytoplasmic vesicle ; GABA-A receptor complex ; GABA-ergic synapse ; integral component of postsynaptic specialization membrane ; dendrite membrane ; neuron projection ; postsynapse ;
Biological process	gamma-aminobutyric acid signaling pathway ; synaptic transmission, GABAergic ; ion transport ; chloride transport ; cellular response to histamine ; chloride transmembrane transport ; regulation of postsynaptic membrane potential ; ion transmembrane transport ; signal transduction ; chemical synaptic transmission ; regulation of membrane potential ; nervous system process ; inhibitory synapse assembly ;
	Sources:Amigo / QuickGO
Orthologs
	2554
	14394
	ENSG00000022355
	ENSMUSG00000010803
	P14867
	P62812
NM_001127648 ; NM_000806 ; NM_001127643 ; NM_001127644 ; NM_001127645 ;
	NM_001127646 ; NM_001127647
	NM_010250 ; NM_001359035
	NP_000797 ; NP_001121115 ; NP_001121116 ; NP_001121117 ; NP_001121120 Contents See also ; References ; Further reading ;
	NP_034380 ; NP_001345964
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated July 17, 2024

Gamma-aminobutyric acid receptor subunit alpha-1 is a protein that in humans is encoded by the GABRA1 gene.^[5]

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified.^[6]

The GABRA1 receptor is the specific target of the z-drug class of nonbenzodiazepine hypnotic agents and is responsible for their hypnotic and hallucinogenic effects.

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: GABA_A and GABA_B. GABA_A receptors are ligand-gated ion channels ; whereas GABA_B receptors are G protein-coupled receptors, also called metabotropic receptors.

The GABA_A-rho receptor is a subclass of GABA_A receptors composed entirely of rho (ρ) subunits. GABA_A 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 GABA_A-ρ receptor, like other GABA_A receptors, is expressed in many areas of the brain, but in contrast to other GABA_A receptors, the GABA_A-ρ receptor has especially high expression in the retina.

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

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 GABA_A 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.

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.

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

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

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

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

Gamma-aminobutyric acid receptor subunit alpha-2 is a protein in humans that is encoded by the GABRA2 gene.

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

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

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

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

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

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 GABA_A receptor subtypes by co-assembly leading to δ subunit containing GABA_A receptors.

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

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.

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.

Gamma-aminobutyric acid receptor subunit rho-3 is a protein that in humans is encoded by the GABRR3 gene. The protein encoded by this gene is a subunit of the GABA_A-ρ receptor.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000022355 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000010803 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Johnson KJ, Sander T, Hicks AA, van Marle A, Janz D, Mullan MJ, Riley BP, Darlison MG (Dec 1992). "Confirmation of the localization of the human GABAA receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis". Genomics. 14 (3): 745–748. doi:10.1016/S0888-7543(05)80178-8. PMID 1330891.
↑ "Entrez Gene: GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1".

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Garrett KM, Duman RS, Saito N, et al. (1988). "Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor". Biochem. Biophys. Res. Commun. 156 (2): 1039–1045. doi: 10.1016/S0006-291X(88)80949-5 . PMID 2847710.
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Kang I, Lindquist DG, Kinane TB, et al. (1994). "Isolation and characterization of the promoter of the human GABAA receptor alpha 1 subunit gene". J. Neurochem. 62 (4): 1643–1646. doi:10.1046/j.1471-4159.1994.62041643.x. PMID 8133292. S2CID 84579971.
Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". J. Biol. Chem. 269 (17): 12993–12998. doi: 10.1016/S0021-9258(18)99974-6 . PMID 8175718.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Huang RQ, Dillon GH (1998). "Maintenance of recombinant type A gamma-aminobutyric acid receptor function: role of protein tyrosine phosphorylation and calcineurin". J. Pharmacol. Exp. Ther. 286 (1): 243–255. PMID 9655866.
Serretti A, Macciardi F, Cusin C, et al. (1999). "No interaction of GABA(A) alpha-1 subunit and dopamine receptor D4 exon 3 genes in symptomatology of major psychoses". Am. J. Med. Genet. 88 (1): 44–49. doi:10.1002/(SICI)1096-8628(19990205)88:1<44::AID-AJMG8>3.0.CO;2-Y. PMID 10050966.
Bonnert TP, McKernan RM, Farrar S, et al. (1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proc. Natl. Acad. Sci. U.S.A. 96 (17): 9891–9896. Bibcode:1999PNAS...96.9891B. doi: 10.1073/pnas.96.17.9891 . PMC 22306 . PMID 10449790.
Serretti A, Lilli R, Lorenzi C, et al. (1999). "Dopamine receptor D2 and D4 genes, GABA(A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders". Psychiatry Research. 87 (1): 7–19. doi:10.1016/S0165-1781(99)00056-6. PMID 10512150. S2CID 26980087.
Cossette P, Liu L, Brisebois K, et al. (2002). "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy". Nat. Genet. 31 (2): 184–189. doi:10.1038/ng885. PMID 11992121. S2CID 11974933.
Kumar S, Sieghart W, Morrow AL (2002). "Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption". J. Neurochem. 82 (1): 110–117. doi:10.1046/j.1471-4159.2002.00943.x. PMID 12091471. S2CID 82745932.
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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000022355 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000010803 – 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.

[pmid1330891-5] Johnson KJ, Sander T, Hicks AA, van Marle A, Janz D, Mullan MJ, Riley BP, Darlison MG (Dec 1992). "Confirmation of the localization of the human GABAA receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis". Genomics. 14 (3): 745–748. doi:10.1016/S0888-7543(05)80178-8. PMID 1330891.

[entrez-6] "Entrez Gene: GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1".

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Gamma-aminobutyric acid receptor subunit alpha-1

Contents

See also

Related Research Articles

References

Further reading