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GABBR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4MQE, 4MQF, 4MR7, 4MR9, 4MRM, 4MS1, 4MS3, 4MS4, 4PAS
Identifiers
Aliases	GABBR1, GABABR1, GABBR1-3, GB1, GPRC3A, dJ271M21.1.1, dJ271M21.1.2, gamma-aminobutyric acid type B receptor subunit 1
External IDs	OMIM: 603540; MGI: 1860139; HomoloGene: 1132; GeneCards: GABBR1; OMA:GABBR1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6p22.1 Start 29,555,629 bp End 29,633,976 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 B1|17 19.16 cM Start 37,356,858 bp End 37,385,959 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe cingulate gyrus anterior cingulate cortex Brodmann area 9 body of uterus right ovary canal of the cervix left uterine tube left ovary Top expressed in habenula superior frontal gyrus dentate gyrus of hippocampal formation granule cell nucleus of stria terminalis entorhinal cortex primary visual cortex cerebellar cortex medial dorsal nucleus central gray substance of midbrain CA3 field More reference expression data BioGPS More reference expression data
Gene ontology Molecular function G protein-coupled receptor activity signal transducer activity protein binding G protein-coupled GABA receptor activity G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential Cellular component cytoplasm integral component of membrane G protein-coupled receptor dimeric complex postsynaptic membrane cell projection membrane plasma membrane synapse integral component of plasma membrane extracellular region cell junction dendrite G protein-coupled receptor heterodimeric complex presynaptic membrane presynapse Schaffer collateral - CA1 synapse GABA-ergic synapse Biological process gamma-aminobutyric acid signaling pathway adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway signal transduction negative regulation of adenylate cyclase activity G protein-coupled receptor signaling pathway regulation of postsynaptic membrane potential neuron-glial cell signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2550 54393 Ensembl ENSG00000237112 ENSG00000206511 ENSG00000206466 ENSG00000232632 ENSG00000232569 ENSG00000237051 ENSG00000204681 ENSMUSG00000024462 UniProt Q9UBS5 Q9WV18 RefSeq (mRNA) NM_001470 NM_021903 NM_021904 NM_021905 NM_001319053 NM_019439 RefSeq (protein) NP_001305982 NP_001461 NP_068703 NP_068704 NP_062312 Location (UCSC) Chr 6: 29.56 – 29.63 Mb Chr 17: 37.36 – 37.39 Mb PubMed search
Wikidata
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Gamma-aminobutyric acid B receptor, 1 (GABA_B1), is a G-protein coupled receptor subunit encoded by the GABBR1 gene.

Function

GABA_B1 is a receptor for Gamma-aminobutyric acid. Upon binding, GABA_B1 will produce a slow and prolonged inhibitory effect. GABA_B1 is one part of a heterodimer, which is the GABA_B receptor, consisting of it and the related GABA_B2 protein. 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

References

1. ^ ENSG00000206511, ENSG00000206466, ENSG00000232632, ENSG00000232569, ENSG00000237051, ENSG00000204681 GRCh38: Ensembl release 89: ENSG00000237112, ENSG00000206511, ENSG00000206466, ENSG00000232632, ENSG00000232569, ENSG00000237051, ENSG00000204681 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000024462 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1".
6. White JH, McIllhinney RA, Wise A, Ciruela F, Chan WY, Emson PC, Billinton A, Marshall FH (December 2000). "The GABAB receptor interacts directly with the related transcription factors CREB2 and ATFx". Proc. Natl. Acad. Sci. U.S.A. 97 (25): 13967–72. Bibcode:2000PNAS...9713967W. doi:10.1073/pnas.240452197. PMC 17684. PMID 11087824.
7. White JH, Wise A, Main MJ, Green A, Fraser NJ, Disney GH, Barnes AA, Emson P, Foord SM, Marshall FH (December 1998). "Heterodimerization is required for the formation of a functional GABA(B) receptor". Nature. 396 (6712): 679–82. Bibcode:1998Natur.396..679W. doi:10.1038/25354. PMID 9872316. S2CID 4406311.

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. S2CID 8640162.
• 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. Bibcode:1997Natur.386..239K. doi:10.1038/386239a0. PMID 9069281. S2CID 4345443.
• 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. S2CID 22947340.
• 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. Bibcode:1998Natur.396..679W. doi:10.1038/25354. PMID 9872316. S2CID 4406311.
• 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. Bibcode:1999Sci...283...74K. 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. S2CID 9649940.
• 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. S2CID 19916703.
• 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. Bibcode:2000PNAS...9713967W. 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. S2CID 24344705.
• 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. S2CID 21596884.

External links

• "GABA_B Receptors: GABA_B1". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Archived from the original on 2016-03-03. Retrieved 2008-12-04.

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

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