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14-September-2008 18:02:42 - GABBR1 Gamma-aminobutyric acid GABA B receptor, 1 PDB rendering based on 1srz. Available structures: 1srz, 1ss2 Identifiers Symbols GABBR1; GABAB1e; GABABR1; GABBR1-3; GPRC3A; dJ271M21.1.1; dJ271M21.1.2; hGB1a External IDs OMIM: 603540 MGI: 1860139 HomoloGene: 1132 Gene ontology Molecular function: receptor activity GABA-B receptor activity protein binding Cellular component: cytoplasm integral to plasma membrane membrane integral to membrane postsynaptic membrane Biological process: protein modification process signal transduction negative regulation of adenylate cyclase activity gamma-aminobutyric acid signaling pathway RNA expression pattern More reference expression data Orthologs Human Mouse Entrez 2550 54393 Ensembl ENSG00000204681 ENSMUSG00000024462 Uniprot Q9UBS5 Q6PGJ2 Refseq NM_001470 mRNA NP_001461 protein XM_001001239 mRNA XP_001001239 protein Location Chr 6: 29.63 - 29.78 Mb Chr 17: 36.65 - 36.68 Mb Pubmed search 1 2 Gamma-aminobutyric acid GABA B receptor, 1, also known as GABBR1, is a human gene. Gamma-aminobutyric acid GABA is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic GABAA/C receptors, to produce fast synaptic inhibition, and metabotropic GABAB receptors, to produce slow, prolonged inhibitory signals. The GABAB receptor consists of a heterodimer of two related 7-transmembrane receptors, GABAB receptor 1 and GABAB receptor 2. The GABAB 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.1 See also GABAB receptor References ^ Entrez Gene: GABBR1 gamma-aminobutyric acid GABA B receptor, 1. 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. PMID 8125298. Kaupmann K, Huggel K, Heid J, et al. 1997. Expression cloning of GABAB 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, 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. Grifa A, Totaro A, Rommens JM, et al. 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, et al. 1999. Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization.. Biol. Psychiatry 44 8: 659-66. PMID 9798068. Kaupmann K, Schuler V, Mosbacher J, et al. 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. PMID 9844003. White JH, Wise A, Main MJ, et al. 1999. Heterodimerization is required for the formation of a functional GABAB receptor.. Nature 396 6712: 679-82. doi:10.1038/25354. PMID 9872316. Kuner R, Köhr G, Grünewald S, et al. 1999. Role of heteromer formation in GABAB receptor function.. Science 283 5398: 74-7. PMID 9872744. Makoff A 1999. Molecular cloning of human GABABR1 and its tissue distribution.. Brain Res. Mol. Brain Res. 64 1: 137-40. PMID 9889352. Peters HC, Kämmer G, Volz A, et al. 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. PMID 9933300. Ng GY, Clark J, Coulombe N, et al. 1999. Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity.. J. Biol. Chem. 274 12: 7607-10. PMID 10075644. Sander T, Peters C, Kämmer G, et al. 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. PMID 10402495. Wise A, Green A, Main MJ, et al. 1999. Calcium sensing properties of the GABAB receptor.. Neuropharmacology 38 11: 1647-56. PMID 10587080. Sullivan R, Chateauneuf A, Coulombe N, et al. 2000. Coexpression of full-length gamma-aminobutyric acidB GABAB receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABAB heterodimer as the functional receptor.. J. Pharmacol. Exp. Ther. 293 2: 460-7. PMID 10773016. Schwarz DA, Barry G, Eliasof SD, et al. 2000. Characterization of gamma-aminobutyric acid receptor GABAB1e, a GABAB1 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, et al. 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. PMID 11087824. Couve A, Kittler JT, Uren JM, et al. 2001. Association of GABAB 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. This transmembrane receptor-related article is a stub. This article incorporates text from the United States National Library of Medicine, which is in the public domain. v d e Transmembrane receptor: G protein-coupled receptors Class A: Rhodopsin like Adrenergic α1 A, B, D, α2 A, B, C, β1, β2, β3 Eicosanoid CysLT 1, 2, LTB4 1, 2, FPRL1, OXE, Prostaglandin DP, EP 1, 2, 3, 4, PGF, Prostacyclin, Thromboxane Neuropeptide B/W 1, 2, FF 1, 2, S, Y 1, 2, 4, 5 Orphan GPR 1, 3, 4, 6, 12, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 31, 32, 33, 34, 35, 37, 39, 42, 44, 45, 50, 52, 55, 61, 62, 63, 65, 68, 75, 77, 78, 79, 82, 83, 84, 85, 87, 88, 92, 101, 103, 119, 120, 132, 135, 139, 141, 142, 146, 148, 149, 150, 151, 152, 153, 160, 161, 162, 171, 172, 173, 174, 176, 177, 182 Purinergics Adenosine A1, A2a, A2b, A3, P2Y, 1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14 Serotonin all but 5-HT3 5-HT1 A, B, D, E, F, 5-HT2 A, B, C, 5-HT 4, 5A, 6, 7 Other Acetylcholine M1, M2, M3, M4, M5 - Adrenomedullin - Anaphylatoxin C3a, C5a - Angiotensin 1, 2 - Apelin - Bile acid - Bombesin BRS3, GRPR, NMBR - Bradykinin B1, B2 - Cannabinoid CB1, CB2 - Chemokine - Cholecystokinin A, B - Dopamine D1, D2, D3, D4, D5 - EBI2 - Endothelin A, B - Estrogen - Formyl peptide 1, L1, L2 - Free fatty acid 1, 2, 3, 4 - FSH - Galanin 1, 2, 3 - Gonadotropin-releasing hormone 1, 2 - Ghrelin - Histamine H1, H2, H3, H4 - Kisspeptin - Luteinizing hormone/choriogonadotropin - Lysophospholipid 1, 2, 3, 4, 5, 6, 7, 8 - MAS 1, 1L, D, E, F, G, X1, X2, X3, X4 - Melanocortin 1, 2, 3, 4, 5 - MCHR 1, 2 - Melatonin 1A, 1B- Motilin - neuromedin B, U 1, 2 - Neurotensin 1, 2 - Opioid Delta, Kappa, Mu, Nociceptin, but not Sigma - Olfactory - Opsin 3, 4, 5, 1LW, 1MW, 1SW, RGR, RRH - Orexin 1, 2 - Oxytocin - Oxoglutarate - PAF - Prokineticin 1, 2 - Prolactin-releasing peptide - Protease-activated 1, 2, 3, 4 - Relaxin 1, 2, 3, 4 - Somatostatin 1, 2, 3, 4, 5 - SREB - Succinate - TAAR 1, 2, 3, 5, 6, 8, 9 - Tachykinin 1, 2, 3 - Thyrotropin - Thyrotropin-releasing hormone - Urotensin-II - Vasopressin 1A, 1B, 2 Class B: Secretin like Brain-specific angiogenesis inhibitor 1, 2, 3 - Cadherin 1, 2, 3 - Calcitonin - CD97 - Corticotropin-releasing hormone 1, 2 - EMR 1, 2, 3 - Glucagon GR, GIPR, GLP1R, GLP2R - Growth hormone releasing hormone - PACAPR1- GPR 56, 64, 97, 98, 110, 111, 112, 113, 114, 115, 116, 123, 124, 125, 126, 128, 133, 143, 144, 157 - Latrophilin 1, 2, 3, ELTD1 - Parathyroid hormone 1, 2 - Secretin - Vasoactive intestinal peptide 1, 2 Class C: Metabotropic glutamate / pheromone Calcium-sensing receptor - GABA B 1, 2 - Glutamate receptor Metabotropic glutamate 1, 2, 3, 4, 5, 6, 7, 8 - GPRC6A - GPR 156, 158, 179 - RAIG 1, 2, 3, 4 - Taste receptors TAS1R 1, 2, 3 TAS2R 1, 3, 4, 5, 8, 9, 10, 12, 13, 14, 16, 38, 39, 40, 41, 43, 44, 45, 46, 47, 48, 49, 50 Frizzled / Smoothened Frizzled 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 - Smoothened Retrieved from http://en..org/wiki/GABBR1 Categories: Genes on chromosome 6 | Human proteins | Transmembrane receptor stubs | G protein coupled receptors Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page This page was last modified on 8 July 2008, at 08:21
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