GABRA1

Gamma-aminobutyric acid (GABA) A receptor, alpha 1
Identifiers
Symbol(s)	GABRA1; EJM
External IDs	OMIM: 137160 MGI: 95613 Homologene: 629
Gene ontology Molecular Function: • GABA-A receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • chloride channel activity • protein binding • neurotransmitter receptor activity • chloride ion binding Cellular Component: • integral to plasma membrane • postsynaptic membrane Biological Process: • ion transport • chloride transport • gamma-aminobutyric acid signaling pathway
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	2554	14394
Ensembl	ENSG00000022355	ENSMUSG00000010803
Uniprot	P14867	Q3URD4
Refseq	NM_000806 (mRNA) NP_000797 (protein)	NM_010250 (mRNA) NP_034380 (protein)
Location	Chr 5: 161.21 - 161.26 Mb	Chr 11: 41.97 - 42.03 Mb
Pubmed search	[1]	[2]

Gamma-aminobutyric acid (GABA) A receptor, alpha 1, also known as GABRA1, is a human 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.

See also

• GABAA receptor

Further reading

• Johnson KJ, Sander T, Hicks AA, et al. (1992). "Confirmation of the localization of the human GABAA receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis.". Genomics 14 (3): 745–8. PMID 1330891.
• 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): 361–4. PMID 2465923.
• 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): 1039–45. 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): 171–4. 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): 1643–6. PMID 8133292.
• 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): 12993–8. 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): 149–56. 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): 243–55. 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): 44–9. 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): 9891–6. 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. PMID 10512150.
• 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): 184–9. doi:10.1038/ng885. PMID 11992121.
• 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): 110–7. PMID 12091471.
• 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): 91–6. 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): 482–91. PMID 12367595.
• 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): 669–78. PMID 12367612.
• 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): 16899–903. doi:10.1073/pnas.242603899. 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): 272–5. doi:10.1038/nature01280. PMID 12529644.
• 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): 349–55. doi:10.1038/sj.tpj.6500203. PMID 14569258.
• 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): 195–8. PMID 14625018.

Template:Membrane-protein-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.