GABBR1

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External IDs	GeneCards: [1]
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Species	Human	Mouse
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Gamma-aminobutyric acid (GABA) B receptor, 1 (GABA_B1), is a G-protein coupled receptor subunit encoded by the GABBR1 gene.

Function

Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates 4 transcript variants.

Interactions

GABBR1 has been shown to interact with ATF4 and GABBR2.

See also

• GABAB receptor

Further reading

• Fraser DD, Mudrick-Donnon LA, MacVicar BA (1994). "Astrocytic GABA receptors". Glia. 11 (2): 83–93. doi:10.1002/glia.440110203. PMID 7927650.
• 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.
• Kaupmann K, Huggel K, Heid J, Flor PJ, Bischoff S, Mickel SJ, McMaster G, Angst C, Bittiger H, Froestl W, Bettler B (1997). "Expression cloning of GABA(B) receptors uncovers similarity to metabotropic glutamate receptors". Nature. 386 (6622): 239–46. doi:10.1038/386239a0. PMID 9069281.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (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.
• Grifa A, Totaro A, Rommens JM, Carella M, Roetto A, Borgato L, Zelante L, Gasparini P (1998). "GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene". Biochem. Biophys. Res. Commun. 250 (2): 240–5. doi:10.1006/bbrc.1998.9296. PMID 9753614.
• Goei VL, Choi J, Ahn J, Bowlus CL, Raha-Chowdhury R, Gruen JR (1999). "Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization". Biol. Psychiatry. 44 (8): 659–66. doi:10.1016/S0006-3223(98)00244-3. PMID 9798068.
• Kaupmann K, Schuler V, Mosbacher J, Bischoff S, Bittiger H, Heid J, Froestl W, Leonhard S, Pfaff T, Karschin A, Bettler B (1999). "Human gamma-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K+ channels". Proc. Natl. Acad. Sci. U.S.A. 95 (25): 14991–6. doi:10.1073/pnas.95.25.14991. PMC 24563. PMID 9844003.
• White JH, Wise A, Main MJ, Green A, Fraser NJ, Disney GH, Barnes AA, Emson P, Foord SM, Marshall FH (1999). "Heterodimerization is required for the formation of a functional GABA(B) receptor". Nature. 396 (6712): 679–82. doi:10.1038/25354. PMID 9872316.
• Kuner R, Köhr G, Grünewald S, Eisenhardt G, Bach A, Kornau HC (1999). "Role of heteromer formation in GABAB receptor function". Science. 283 (5398): 74–7. doi:10.1126/science.283.5398.74. PMID 9872744.
• Makoff A (1999). "Molecular cloning of human GABABR1 and its tissue distribution". Brain Res. Mol. Brain Res. 64 (1): 137–40. doi:10.1016/S0169-328X(98)00316-7. PMID 9889352.
• Peters HC, Kämmer G, Volz A, Kaupmann K, Ziegler A, Bettler B, Epplen JT, Sander T, Riess O (2000). "Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy". Neurogenetics. 2 (1): 47–54. doi:10.1007/s100480050051. PMID 9933300.
• Ng GY, Clark J, Coulombe N, Ethier N, Hebert TE, Sullivan R, Kargman S, Chateauneuf A, Tsukamoto N, McDonald T, Whiting P, Mezey E, Johnson MP, Liu Q, Kolakowski LF, Evans JF, Bonner TI, O'Neill GP (1999). "Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity". J. Biol. Chem. 274 (12): 7607–10. doi:10.1074/jbc.274.12.7607. PMID 10075644.
• Sander T, Peters C, Kämmer G, Samochowiec J, Zirra M, Mischke D, Ziegler A, Kaupmann K, Bettler B, Epplen JT, Riess O (1999). "Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy". Am. J. Med. Genet. 88 (4): 305–10. doi:10.1002/(SICI)1096-8628(19990820)88:4<305::AID-AJMG5>3.0.CO;2-X. PMID 10402495.
• Wise A, Green A, Main MJ, Wilson R, Fraser N, Marshall FH (1999). "Calcium sensing properties of the GABA(B) receptor". Neuropharmacology. 38 (11): 1647–56. doi:10.1016/S0028-3908(99)00119-7. PMID 10587080.
• Sullivan R, Chateauneuf A, Coulombe N, Kolakowski LF, Johnson MP, Hebert TE, Ethier N, Belley M, Metters K, Abramovitz M, O'Neill GP, Ng GY (2000). "Coexpression of full-length gamma-aminobutyric acid(B) (GABA(B)) receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABA(B) heterodimer as the functional receptor". J. Pharmacol. Exp. Ther. 293 (2): 460–7. PMID 10773016.
• Schwarz DA, Barry G, Eliasof SD, Petroski RE, Conlon PJ, Maki RA (2000). "Characterization of gamma-aminobutyric acid receptor GABAB(1e), a GABAB(1) splice variant encoding a truncated receptor". J. Biol. Chem. 275 (41): 32174–81. doi:10.1074/jbc.M005333200. PMID 10906333.
• White JH, McIllhinney RA, Wise A, Ciruela F, Chan WY, Emson PC, Billinton A, Marshall FH (2001). "The GABAB receptor interacts directly with the related transcription factors CREB2 and ATFx". Proc. Natl. Acad. Sci. U.S.A. 97 (25): 13967–72. doi:10.1073/pnas.240452197. PMC 17684. PMID 11087824.
• Couve A, Kittler JT, Uren JM, Calver AR, Pangalos MN, Walsh FS, Moss SJ (2001). "Association of GABA(B) receptors and members of the 14-3-3 family of signaling proteins". Mol. Cell. Neurosci. 17 (2): 317–28. doi:10.1006/mcne.2000.0938. PMID 11178869.
• Muñoz A, Arellano JI, DeFelipe J (2002). "GABABR1 receptor protein expression in human mesial temporal cortex: changes in temporal lobe epilepsy". J. Comp. Neurol. 449 (2): 166–79. doi:10.1002/cne.10287. PMID 12115687.

External links

• "GABA_B Receptors: GABA_B1". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.

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