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
Gene location (Human)
Chr.	Chromosome 4 (human)
End	47,426,447 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	72,306,380 bp
RNA expression pattern
	Top expressed in
	Brodmann area 23; ; middle temporal gyrus; ; entorhinal cortex; ; parietal lobe; ; endothelial cell; ; postcentral gyrus; ; Region I of hippocampus proper; ; Brodmann area 46; ; external globus pallidus; ; Brodmann area 10;
	Top expressed in
	subiculum; ; paraventricular nucleus of hypothalamus; ; substantia nigra; ; ventromedial nucleus; ; medial dorsal nucleus; ; lateral hypothalamus; ; Region I of hippocampus proper; ; cingulate gyrus; ; dorsomedial hypothalamic nucleus; ; nucleus accumbens;
	More reference expression data
	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
	2560
	14400
	ENSG00000163288
	ENSMUSG00000029212
	P18505
	P50571
	NM_000812
	NM_008069; NM_001370968
	NP_000803
	NP_032095; NP_001357897
	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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000163288 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029212 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1".
↑ 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.

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. 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. 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: 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000163288 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1".

[pmid24281383-6] 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.

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Function

Clinical significance

See also

References

Further reading

External links