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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) Band 5q34 Start 161,847,063 bp End 161,899,981 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 A5|11 24.97 cM Start 42,021,766 bp End 42,073,757 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 2554 14394 Ensembl ENSG00000022355 ENSMUSG00000010803 UniProt P14867 P62812 RefSeq (mRNA) NM_001127648 NM_000806 NM_001127643 NM_001127644 NM_001127645 NM_001127646 NM_001127647 NM_010250 NM_001359035 RefSeq (protein) NP_000797 NP_001121115 NP_001121116 NP_001121117 NP_001121120 NP_034380 NP_001345964 Location (UCSC) Chr 5: 161.85 – 161.9 Mb Chr 11: 42.02 – 42.07 Mb PubMed search
Wikidata
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Gamma-aminobutyric acid receptor subunit alpha-1 is a protein that in humans is encoded by the GABRA1 gene.

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.

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.

See also

• GABA_A receptor

References

1. ^ GRCh38: Ensembl release 89: ENSG00000022355 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1".

Further reading

• 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. Bibcode:1989FEBSL.244..361S. 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.

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