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Gamma-aminobutyric acid (GABA) B receptor, 1
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| PDB rendering based on 1srz. The Protein Data Bank ( PDB) is a repository for 3-D structural data of Proteins and Nucleic acids These data typically obtained by X-ray crystallography | ||
| Available structures: 1srz, 1ss2 | ||
| Identifiers | ||
| Symbol(s) | GABBR1; GABAB(1e); GABABR1; GABBR1-3; GPRC3A; dJ271M21. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome 1. 1; dJ271M21. 1. 2; hGB1a | |
| External IDs | OMIM: 603540 MGI: 1860139 HomoloGene: 1132 | |
| RNA expression pattern | ||
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| 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. The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance
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]
See also
References
- ^ Entrez Gene: GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1. GABAB receptors (GABABR are Metabotropic Transmembrane receptors for Gamma-aminobutyric acid (GABA that are linked via G-proteins
Further reading
- Fraser DD, Mudrick-Donnon LA, MacVicar BA (1994). "Astrocytic GABA receptors. ". Glia 11 (2): 83-93. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12115687.
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