Biology:GABRB1

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.

Function

The gamma-aminobutyric acid A receptor (GABA_A 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 GABA_A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia.

Clinical significance

Mice bearing mutant copies of this gene have been shown to be vulnerable to binge drinking of alcohol.

See also

• GABAA receptor

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.