GABRB1

GABRB1
Identifiers
Aliases	GABRB1 , gamma-aminobutyric acid type A receptor beta1 subunit, EIEE45, gamma-aminobutyric acid type A receptor subunit beta1, DEE45
External IDs	OMIM: 137190; MGI: 95619; HomoloGene: 20221; GeneCards: GABRB1; OMA:GABRB1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4p12 Start 46,993,723 bp [1] End 47,426,447 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 C3.2|5 38.18 cM Start 71,815,456 bp [2] End 72,306,380 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 middle temporal gyrus entorhinal cortex pars reticulata dorsal motor nucleus of vagus nerve parietal lobe endothelial cell postcentral gyrus Region I of hippocampus proper pars compacta Top expressed in CA3 field nucleus of stria terminalis subiculum paraventricular nucleus of hypothalamus substantia nigra ventromedial nucleus anterior amygdaloid area medial dorsal nucleus lateral hypothalamus Region I of hippocampus proper More reference expression data BioGPS n/a
Gene ontology Molecular function anion channel activity ion channel activity chloride channel activity extracellular ligand-gated ion channel activity ligand-gated ion channel activity GABA-gated chloride ion channel activity GABA-A receptor activity transmembrane signaling receptor activity GABA receptor binding transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cellular component cytoplasm integral component of membrane postsynaptic membrane nuclear envelope membrane receptor complex synapse integral component of plasma membrane chloride channel complex cell junction dendrite nucleus plasma membrane GABA-A receptor complex neuron projection GABA-ergic synapse Biological process cellular response to histamine response to progesterone ion transport central nervous system neuron development ovulation cycle chloride transport response to toxic substance signal transduction chloride transmembrane transport gamma-aminobutyric acid signaling pathway ion transmembrane transport chemical synaptic transmission regulation of membrane potential nervous system process regulation of postsynaptic membrane potential Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2560 14400 Ensembl ENSG00000163288 ENSMUSG00000029212 UniProt P18505 P50571 RefSeq (mRNA) NM_000812 NM_008069 NM_001370968 RefSeq (protein) NP_000803 NP_032095 NP_001357897 Location (UCSC) Chr 4: 46.99 – 47.43 Mb Chr 5: 71.82 – 72.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 gene. ^[5]

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. ^[5]

Clinical significance

Mice bearing mutant copies of this gene have been shown to be vulnerable to binge drinking of alcohol. ^[6]

See also

• GABAA receptor

References

1. GRCh38: Ensembl release 89: ENSG00000163288 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029212 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1".
6. Anstee QM, Knapp S, Maguire EP, Hosie AM, Thomas P, Mortensen M, Bhome R, Martinez A, Walker SE, Dixon CI, Ruparelia K, Montagnese S, Kuo YT, Herlihy A, Bell JD, Robinson I, Guerrini I, McQuillin A, Fisher EM, Ungless MA, Gurling HM, Morgan MY, Brown SD, Stephens DN, Belelli D, Lambert JJ, Smart TG, Thomas HC (November 2013). "Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition". Nat Commun. 4: 2816. Bibcode:2013NatCo...4.2816A. doi:10.1038/ncomms3816. PMC   3843143 . PMID   24281383.

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): 14470–14476. doi: 10.1016/S0021-9258(19)49736-6 . PMID   1321150.
• Moss SJ, Smart TG, Blackstone CD, Huganir RL (1992). "Functional modulation of GABAA receptors by cAMP-dependent protein phosphorylation". Science. 257 (5070): 661–665. Bibcode:1992Sci...257..661M. 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): 621–626. PMC   1683131 . 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): 985–995. 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): 652–657. doi:10.1016/S0026-895X(25)10964-4. 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): 361–364. Bibcode:1989FEBSL.244..361S. doi: 10.1016/0014-5793(89)80563-0 . PMID   2465923. S2CID   84068989.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. 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): 149–156. 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.
• 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): 23–28. doi:10.1038/223. PMID   10195104. S2CID   204994519.
• 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): 9891–9896. Bibcode:1999PNAS...96.9891B. doi: 10.1073/pnas.96.17.9891 . PMC   22306 . 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): 8600–8605. Bibcode:2000PNAS...97.8600R. doi: 10.1073/pnas.97.15.8600 . PMC   26994 . 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 (1): 58–64. Bibcode:2000NYASA.914...58B. doi:10.1111/j.1749-6632.2000.tb05183.x. PMID   11085308. S2CID   13569188.
• 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): 26597–26604. 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): 476–482. 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): 3729–3733. Bibcode:2002PNAS...99.3729P. doi: 10.1073/pnas.052716399 . PMC   122592 . 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): 16899–16903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. doi:10.1016/S1044-7431(02)00017-9. PMID   12595241. S2CID   6172436.
• Buckley ST, Dodd PR (2004). "GABAA receptor beta subunit mRNA expression in the human alcoholic brain". Neurochem. Int. 45 (7): 1011–1020. doi:10.1016/j.neuint.2004.05.009. PMID   15337300. S2CID   54392069.

External links

• GABRB1+protein,+human at the U.S. 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.