Biology:GABBR1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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

Further reading

• "Astrocytic GABA receptors.". Glia 11 (2): 83–93. 1994. doi:10.1002/glia.440110203. PMID 7927650. 
• "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• "Expression cloning of GABA(B) receptors uncovers similarity to metabotropic glutamate receptors". Nature 386 (6622): 239–46. 1997. doi:10.1038/386239a0. PMID 9069281. Bibcode: 1997Natur.386..239K. 
• "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• "GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene". Biochem. Biophys. Res. Commun. 250 (2): 240–5. 1998. doi:10.1006/bbrc.1998.9296. PMID 9753614. 
• "Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization". Biol. Psychiatry 44 (8): 659–66. 1999. doi:10.1016/S0006-3223(98)00244-3. PMID 9798068. 
• "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. 1999. doi:10.1073/pnas.95.25.14991. PMID 9844003. 
• "Heterodimerization is required for the formation of a functional GABA(B) receptor". Nature 396 (6712): 679–82. 1999. doi:10.1038/25354. PMID 9872316. Bibcode: 1998Natur.396..679W. 
• "Role of heteromer formation in GABAB receptor function". Science 283 (5398): 74–7. 1999. doi:10.1126/science.283.5398.74. PMID 9872744. Bibcode: 1999Sci...283...74K. 
• 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. 
• "Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy". Neurogenetics 2 (1): 47–54. 2000. doi:10.1007/s100480050051. PMID 9933300. 
• "Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity". J. Biol. Chem. 274 (12): 7607–10. 1999. doi:10.1074/jbc.274.12.7607. PMID 10075644. 
• "Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy". Am. J. Med. Genet. 88 (4): 305–10. 1999. doi:10.1002/(SICI)1096-8628(19990820)88:4<305::AID-AJMG5>3.0.CO;2-X. PMID 10402495. 
• "Calcium sensing properties of the GABA(B) receptor". Neuropharmacology 38 (11): 1647–56. 1999. doi:10.1016/S0028-3908(99)00119-7. PMID 10587080. 
• "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. 2000. PMID 10773016. 
• "Characterization of gamma-aminobutyric acid receptor GABAB(1e), a GABAB(1) splice variant encoding a truncated receptor". J. Biol. Chem. 275 (41): 32174–81. 2000. doi:10.1074/jbc.M005333200. PMID 10906333. 
• "The GABAB receptor interacts directly with the related transcription factors CREB2 and ATFx". Proc. Natl. Acad. Sci. U.S.A. 97 (25): 13967–72. 2001. doi:10.1073/pnas.240452197. PMID 11087824. Bibcode: 2000PNAS...9713967W. 
• "Association of GABA(B) receptors and members of the 14-3-3 family of signaling proteins". Mol. Cell. Neurosci. 17 (2): 317–28. 2001. doi:10.1006/mcne.2000.0938. PMID 11178869. 
• "GABABR1 receptor protein expression in human mesial temporal cortex: changes in temporal lobe epilepsy". J. Comp. Neurol. 449 (2): 166–79. 2002. 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. http://www.iuphar-db.org/GPCR/ReceptorDisplayForward?receptorID=2197. 

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