GABRB1

Gamma-aminobutyric acid (GABA) A receptor, beta 1

Identifiers

External IDs

OMIM: 137190 MGI: 95619 HomoloGene: 20221 IUPHAR: 410 ChEMBL: 4558 GeneCards: GABRB1 Gene

Gene ontology
Molecular function	• GABA-A receptor activity • extracellular ligand-gated ion channel activity • chloride channel activity • ligand-gated ion channel activity
Cellular component	• plasma membrane • integral component of plasma membrane • cell junction • chloride channel complex • postsynaptic membrane • GABA-A receptor complex
Biological process	• transport • ion transport • signal transduction • synaptic transmission • ion transmembrane transport • transmembrane transport • cellular response to histamine • chloride transmembrane transport
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 5:
71.7 – 72.14 Mb

PubMed search

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

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.^[1]

Clinical significance

Mice bearing mutant copies of this gene have been shown to be vulnerable to binge drinking of alcohol.^[2]

References

↑ 1.0 1.1 "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. doi:10.1038/ncomms3816. 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): 14470–6. 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.
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.
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.
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.
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.
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

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.

Ion channel, cell surface receptor: ligand-gated ion channels

Cys-loop receptors

5-HT/serotonin	5-HT₃ A B C D E

GABA	GABA_A α₁ α₂ α₃ α₄ α₅ α₆ β₁ β₂ β₃ γ₁ γ₂ γ₃ δ ε π θ GABA_A-ρ ρ₁ ρ₂ ρ₃

Glycine	α₁ α₂ α₃ α₄ β

Nicotinic acetylcholine	monomers: α1 α2 α3 α4 α5 α6 α7 α9 α10 β1 β2 β3 β4 δ ε pentamers: (α3)₂(β4)₃ (α4)₂(β2)₃ (α7)₅ (α1)₂(β4)₃ - Ganglion type (α1)₂β1δε - Muscle type

Zinc	Zinc-activated

Ionotropic glutamates

Ligand-gated only	AMPA (1 2 3 4) Kainate 1 2 3 4 5

Voltage- and ligand-gated	NMDA 1 2A 2B 2C 2D 3A 3B L1A L1B

‘Orphan’	GluD δ₁ δ₂

ATP-gated channels

Purinergic receptors	P2X 1 2 3 4 5 6 7

Index of signal transduction

Description	Intercellular neuropeptides growth factors cytokines hormones Cell surface receptors ligand-gated enzyme-linked G protein-coupled immunoglobulin superfamily integrins neuropeptide growth factor cytokine Intracellular adaptor proteins GTP-binding MAP kinase Calcium signaling Lipid signaling Pathways hedgehog Wnt TGF beta MAPK ERK notch JAK-STAT apoptosis hippo TLR

GABRB1

Function

Clinical significance

See also

References

Further reading

External links