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| Gamma-aminobutyric acid (GABA) A receptor, alpha 1 | ||||||||||||||
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| Identifiers | ||||||||||||||
| Symbols | GABRA1; EJM | |||||||||||||
| External IDs | OMIM: 137160 MGI: 95613 HomoloGene: 629 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| More reference expression data | ||||||||||||||
| Orthologs | ||||||||||||||
| Species | Human | Mouse | ||||||||||||
| Entrez | 2554 | 14394 | ||||||||||||
| Ensembl | ENSG00000022355 | ENSMUSG00000010803 | ||||||||||||
| UniProt | P14867 | Q3URD4 | ||||||||||||
| RefSeq | NM_000806 (mRNA) | NM_010250 (mRNA) | ||||||||||||
| NP_000797 (protein) | NP_034380 (protein) | |||||||||||||
| Location | Chr 5: 161.21 - 161.26 Mb |
Chr 11: 41.97 - 42.03 Mb |
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| PubMed search | [1] | [2] | ||||||||||||
Gamma-aminobutyric acid receptor subunit alpha-1 is a protein that in humans is encoded by the GABRA1 gene.[1]
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.[2]
See also
References
- ^ 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): 745-8. PMID 1330891.
- ^ "Entrez Gene: GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2554.
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): 361–4. doi:. 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. doi:. 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. doi:. 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. doi:. 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. doi:. 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. doi:. 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:. 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:. 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. doi:. 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. doi:. 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. doi:. 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. doi:. 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:. 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:. 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:. 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. doi:. PMID 14625018.
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