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
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
	endothelial cell; ; middle temporal gyrus; ; Brodmann area 23; ; superior frontal gyrus; ; postcentral gyrus; ; frontal pole; ; external globus pallidus; ; prefrontal cortex; ; dorsolateral prefrontal cortex; ; cerebellar vermis;
	Top expressed in
	cerebellar vermis; ; globus pallidus; ; lateral hypothalamus; ; ventral tegmental area; ; medial geniculate nucleus; ; dorsal tegmental nucleus; ; medial dorsal nucleus; ; lateral geniculate nucleus; ; ventromedial nucleus; ; substantia nigra;
	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
	NP_034380; NP_001345964
	Wikidata
View/Edit Human	View/Edit Mouse

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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000022355 – Ensembl, May 2017
^ ^a ^b ^c 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".

Schofield PR, Pritchett DB, Sontheimer H, et al. (1989). "Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits". FEBS Lett. 244 (2): 361–364. doi:10.1016/0014-5793(89)80563-0. PMID 2465923. S2CID 84068989.
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.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
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.
Trudell J (2002). "Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling". Biochim. Biophys. Acta. 1565 (1): 91–96. doi:10.1016/S0005-2736(02)00512-6. PMID 12225856.
Sarto I, Wabnegger L, Dögl E, Sieghart W (2002). "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly". Neuropharmacology. 43 (4): 482–491. doi:10.1016/S0028-3908(02)00160-0. PMID 12367595. S2CID 140209788.
Jenkins A, Andreasen A, Trudell JR, Harrison NL (2002). "Tryptophan scanning mutagenesis in TM4 of the GABA(A) receptor alpha1 subunit: implications for modulation by inhaled anesthetics and ion channel structure". Neuropharmacology. 43 (4): 669–678. doi:10.1016/S0028-3908(02)00175-2. PMID 12367612. S2CID 41156918.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Kash TL, Jenkins A, Kelley JC, et al. (2003). "Coupling of agonist binding to channel gating in the GABA(A) receptor". Nature. 421 (6920): 272–275. Bibcode:2003Natur.421..272K. doi:10.1038/nature01280. PMID 12529644. S2CID 4429883.
Lin SK, Chen CK, Ball D, et al. (2004). "Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder". Pharmacogenomics J. 3 (6): 349–355. doi:10.1038/sj.tpj.6500203. PMID 14569258. S2CID 177019.
Mercik K, Pytel M, Mozrzymas JW (2004). "Recombinant alpha 1 beta 2 gamma 2 GABA(A) receptors expressed in HEK293 and in QT6 cells show different kinetics". Neurosci. Lett. 352 (3): 195–198. doi:10.1016/j.neulet.2003.08.060. PMID 14625018. S2CID 53298392.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000022355 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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

See also

References

Further reading