Human Gene GABRA3 (uc010ntk.1) Description and Page Index
Description: Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.180828.1, SRR1660803.154983.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000370314.9/ ENSP00000359337.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chrX:151,335,634-151,619,831 Size: 284,198 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chrX:151,336,700-151,533,042 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.
[PubMed 15048654]
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.
[PubMed 9561979]
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.
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.
