GABRB1

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Gamma-aminobutyric acid (GABA) A receptor, beta 1
Identifiers
Symbol(s) GABRB1;
External IDs OMIM: 137190 MGI: 95619 HomoloGene: 20221
Orthologs
Human Mouse
Entrez 2560 14400
Ensembl ENSG00000163288 n/a
Uniprot P18505 n/a
Refseq NM_000812 (mRNA)
NP_000803 (protein)		 NM_008069 (mRNA)
NP_032095 (protein)
Location Chr 4: 46.73 - 47.12 Mb n/a
Pubmed search [1] [2]

Gamma-aminobutyric acid (GABA) A receptor, beta 1, also known as GABRB1, is a human gene.[1]

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 comprised 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.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1.

[edit] 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. 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. PMID 1652891. 
  • 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. 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. 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. 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. PMID 9373149. 
  • Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome.". Gene 227 (2): 213–22. 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. PMID 10449790. 
  • 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. PMID 10900018. 
  • 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. 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. PMID 11891318. 
  • 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. 
  • 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. 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. 

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