GABBR1

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Gamma-aminobutyric acid (GABA) B receptor, 1
PDB rendering based on 1srz.
Available structures: 1srz, 1ss2
Identifiers
Symbol(s) GABBR1; GABAB(1e); GABABR1; GABBR1-3; GPRC3A; dJ271M21.1.1; dJ271M21.1.2; hGB1a
External IDs OMIM: 603540 MGI: 1860139 HomoloGene: 1132
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 [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.[1]

[edit] See also

[edit] References

  1. ^ Entrez Gene: GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1.

[edit] 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 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, 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 GABA(B) 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 GABA(B) receptor.". Neuropharmacology 38 (11): 1647-56. PMID 10587080. 
  • Sullivan R, Chateauneuf A, Coulombe N, et al. (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, et al. (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, 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 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. 
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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
Acetylcholine (M1, M2, M3, M4, M5) - Adrenergic (α1 (A, B, D), α2 (A, B, C), β1, β2, β3) - 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) - Eicosanoid (CysLT (1, 2), LTB4 (1, 2), FPRL1, OXE, Prostaglandin ((DP (1, 2), EP (1, 2, 3, 4), PGF, Prostacyclin, Thromboxane) - 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) - 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) - 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)) - Neuropeptide (B/W (1, 2), FF (1, 2), S, Y (1, 2, 4, 5)) - 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) - Purinergics (Adenosine (A1, A2a, A2b, A3), P2Y, (1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14)) - Relaxin (1, 2, 3, 4) - Somatostatin (1, 2, 3, 4, 5) - Serotonin, all but 5-HT3 (5-HT1 (A, B, D, E, F), 5-HT2 (A, B, C), 5-HT (4, 5A, 6, 7)) - 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
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