Biology:GABRB1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 gene.[1]
Function
The gamma-aminobutyric acid A receptor (GABAA receptor) is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABAA receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia.[1]
Clinical significance
Mice bearing mutant copies of this gene have been shown to be vulnerable to binge drinking of alcohol.[2]
See also
References
- ↑ 1.0 1.1 "Entrez Gene: GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2560.
- ↑ "Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition". Nat Commun 4: 2816. November 2013. doi:10.1038/ncomms3816. PMID 24281383. Bibcode: 2013NatCo...4.2816A.
Further reading
- "Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor". J. Biol. Chem. 267 (20): 14470–14476. 1992. doi:10.1016/S0021-9258(19)49736-6. PMID 1321150.
- "Functional modulation of GABAA receptors by cAMP-dependent protein phosphorylation". Science 257 (5070): 661–665. 1992. doi:10.1126/science.1323140. PMID 1323140. Bibcode: 1992Sci...257..661M.
- "Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism". Am. J. Hum. Genet. 49 (3): 621–626. 1991. PMID 1652891.
- "Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1)". Genomics 10 (4): 985–995. 1991. doi:10.1016/0888-7543(91)90189-L. PMID 1655634.
- "Differential expression of gamma-aminobutyric acidA receptor subunits". Mol. Pharmacol. 37 (5): 652–657. 1990. PMID 2160058.
- "Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits". FEBS Lett. 244 (2): 361–364. 1989. doi:10.1016/0014-5793(89)80563-0. PMID 2465923.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia". Am. J. Med. Genet. 54 (1): 12–20. 1994. doi:10.1002/ajmg.1320540105. PMID 8178835.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene 227 (2): 213–222. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064.
- "Adjacent phosphorylation sites on GABAA receptor beta subunits determine regulation by cAMP-dependent protein kinase". Nat. Neurosci. 1 (1): 23–28. 1999. doi:10.1038/223. PMID 10195104.
- "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proc. Natl. Acad. Sci. U.S.A. 96 (17): 9891–9896. 1999. doi:10.1073/pnas.96.17.9891. PMID 10449790. Bibcode: 1999PNAS...96.9891B.
- "An initiator element mediates autologous downregulation of the human type A gamma -aminobutyric acid receptor beta 1 subunit gene". Proc. Natl. Acad. Sci. U.S.A. 97 (15): 8600–8605. 2000. doi:10.1073/pnas.97.15.8600. PMID 10900018. Bibcode: 2000PNAS...97.8600R.
- "Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex". Ann. N. Y. Acad. Sci. 914: 58–64. 2006. doi:10.1111/j.1749-6632.2000.tb05183.x. PMID 11085308. Bibcode: 2000NYASA.914...58B.
- "Interaction between GABA(A) receptor beta subunits and the multifunctional protein gC1q-R". J. Biol. Chem. 276 (28): 26597–26604. 2001. doi:10.1074/jbc.M102534200. PMID 11350968.
- "Unique phosphorylation mechanism of Gab1 using PI 3-kinase as an adaptor protein". Biochem. Biophys. Res. Commun. 288 (2): 476–482. 2001. doi:10.1006/bbrc.2001.5791. PMID 11606067.
- "Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 3729–3733. 2002. doi:10.1073/pnas.052716399. PMID 11891318. Bibcode: 2002PNAS...99.3729P.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits". Mol. Cell. Neurosci. 22 (1): 87–97. 2003. doi:10.1016/S1044-7431(02)00017-9. PMID 12595241.
- "GABAA receptor beta subunit mRNA expression in the human alcoholic brain". Neurochem. Int. 45 (7): 1011–1020. 2004. doi:10.1016/j.neuint.2004.05.009. PMID 15337300.
External links
- GABRB1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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