Human Gene GABBR1 (uc011goz.1) Description and Page Index
Description: Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA. RefSeq Summary (NM_001470): 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 multiple transcript variants. [provided by RefSeq, Jun 2009]. Transcript (Including UTRs) Position: chr6_mann_hap4:879,403-903,154 Size: 23,752 Total Exon Count: 14 Strand: - Coding Region Position: chr6_mann_hap4:879,507-903,154 Size: 23,648 Coding Exon Count: 14
schizophrenia Zai, G. et al. 2005, Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia., European neuropsychopharmacology. 2005 May;15(3):347-52.
Further investigations of the role of GABBR1 in SCZ are warranted.
schizophrenia Zhao, X. et al. 2007, Systematic study of association of four GABAergic genes, Schizophr Res 2007.
sleep apnea Bayazit, Y. A. et al. 2007, Association of GABA(B)R1 Receptor Gene Polymorphism with Obstructive Sleep Apnea Syndrome, ORL J Otorhinolaryngol Relat Spec 2007 69(3) 190-197.
The Ala20Val polymorphism of the GABA(B)R1 gene may be associated with OSAS, whereas Gly489Ser polymorphism does not seem to be involved in OSAS.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.