GABRB1

Gamma-aminobutyric acid (GABA) A receptor, beta 1
Identifiers
Symbols	GABRB1;
External IDs	OMIM: 137190 MGI: 95619 HomoloGene: 20221 IUPHAR: β1 GeneCards: GABRB1 Gene
Gene Ontology Molecular function • receptor activity • GABA-A receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • chloride channel activity Cellular component • plasma membrane • integral to plasma membrane • cell junction • chloride channel complex • synapse • postsynaptic membrane Biological process • transport • signal transduction • synaptic transmission • ion transmembrane transport • transmembrane transport Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2560	14400
Ensembl	ENSG00000163288	ENSMUSG00000029212
UniProt	P18505	P50571
RefSeq (mRNA)	NM_000812	NM_008069.4
RefSeq (protein)	NP_000803	NP_032095.1
Location (UCSC)	Chr 4: 47 – 47.43 Mb	Chr 5: 72.09 – 72.53 Mb
PubMed search	[1]	[2]

Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 gene.

The gamma-aminobutyric acid (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.

See also

• GABAA receptor

Further reading

• Moss SJ, Doherty CA, Huganir RL (1992). "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): 14470–6. PMID 1321150. 
• Moss SJ, Smart TG, Blackstone CD, Huganir RL (1992). "Functional modulation of GABAA receptors by cAMP-dependent protein phosphorylation". Science 257 (5070): 661–5. doi:10.1126/science.1323140. PMID 1323140. 
• Dean M, Lucas-Derse S, Bolos A, et al. (1991). "Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism". Am. J. Hum. Genet. 49 (3): 621–6. PMC 1683131. PMID 1652891. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1683131. 
• Kirkness EF, Kusiak JW, Fleming JT, et al. (1991). "Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1)". Genomics 10 (4): 985–95. doi:10.1016/0888-7543(91)90189-L. PMID 1655634. 
• Garrett KM, Saito N, Duman RS, et al. (1990). "Differential expression of gamma-aminobutyric acidA receptor subunits". Mol. Pharmacol. 37 (5): 652–7. PMID 2160058. 
• 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:10.1016/0014-5793(89)80563-0. PMID 2465923. 
• 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:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• Coon H, Sobell J, Heston L, et al. (1994). "Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia". Am. J. Med. Genet. 54 (1): 12–20. doi:10.1002/ajmg.1320540105. PMID 8178835. 
• 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: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): 213–22. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064. 
• McDonald BJ, Amato A, Connolly CN, et al. (1999). "Adjacent phosphorylation sites on GABAA receptor beta subunits determine regulation by cAMP-dependent protein kinase". Nat. Neurosci. 1 (1): 23–8. doi:10.1038/223. PMID 10195104. 
• 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:10.1073/pnas.96.17.9891. PMC 22306. PMID 10449790. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22306. 
• Russek SJ, Bandyopadhyay S, Farb DH (2000). "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): 8600–5. doi:10.1073/pnas.97.15.8600. PMC 26994. PMID 10900018. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=26994. 
• Buckley ST, Eckert AL, Dodd PR (2006). "Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex". Ann. N. Y. Acad. Sci. 914: 58–64. doi:10.1111/j.1749-6632.2000.tb05183.x. PMID 11085308. 
• Schaerer MT, Kannenberg K, Hunziker P, et al. (2001). "Interaction between GABA(A) receptor beta subunits and the multifunctional protein gC1q-R". J. Biol. Chem. 276 (28): 26597–604. doi:10.1074/jbc.M102534200. PMID 11350968. 
• Onishi-Haraikawa Y, Funaki M, Gotoh N, et al. (2001). "Unique phosphorylation mechanism of Gab1 using PI 3-kinase as an adaptor protein". Biochem. Biophys. Res. Commun. 288 (2): 476–82. doi:10.1006/bbrc.2001.5791. PMID 11606067. 
• Porjesz B, Almasy L, Edenberg HJ, et al. (2002). "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): 3729–33. doi:10.1073/pnas.052716399. PMC 122592. PMID 11891318. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=122592. 
• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Brandon NJ, Jovanovic JN, Colledge M, et al. (2003). "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. doi:10.1016/S1044-7431(02)00017-9. PMID 12595241. 
• Buckley ST, Dodd PR (2004). "GABAA receptor beta subunit mRNA expression in the human alcoholic brain". Neurochem. Int. 45 (7): 1011–20. doi:10.1016/j.neuint.2004.05.009. PMID 15337300. 

External links

• MeSH GABRB1+protein,+human

This article incorporates text from the United States National Library of Medicine, which is in the public domain.