Description: gamma-aminobutyric acid A receptor, alpha 3 RefSeq Summary (NM_000808): GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg18 chrX:151,086,290-151,370,487 Size: 284,198 Total Exon Count: 10 Strand: - Coding Region Position: hg18 chrX:151,087,356-151,283,698 Size: 196,343 Coding Exon Count: 9
ID:GBRA3_HUMAN DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor subunit alpha-3; AltName: Full=GABA(A) receptor subunit alpha-3; Flags: Precursor; FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. SUBUNIT: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA3 sub-subfamily. WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http://web.expasy.org/spotlight/back_issues/sptlt056.shtml";
Genetic Association Studies of Complex Diseases and Disorders
depressive disorder, major Henkel, V. et al. 2004, The gamma amino butyric acid (GABA) receptor alpha-3 subunit gene polymorphism in unipolar depressive disorder: A genetic association study, American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):82-7.
The results of our study indicate that GABRA 3 gene might also be involved in the genetic pathophysiology of unipolar major depressive disorder (at least in female patients), even if the findings do not support a predominant role of GABRA 3.
multiple sclerosis Gade-Andavolu R et al. 1998, Association between the gamma-aminobutyric acid A3 receptor gene and multiple sclerosis., Archives of neurology. 1998 Apr;55(4):513-6.
These results suggest the GABRA3 gene may be a risk factor for MS. As with the DRD2 gene, the effect may be mediated through its regulation of prolactin release.
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.
ModBase Predicted Comparative 3D Structure on P34903
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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.