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]. 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";
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.
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.
Biological Process: GO:0006811 ion transport GO:0006821 chloride transport GO:0007214 gamma-aminobutyric acid signaling pathway GO:0034220 ion transmembrane transport GO:1902476 chloride transmembrane transport
KJ620007 - Homo sapiens transcript variant CTGABRA3 (GABRA3) mRNA, complete sequence. BC028629 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3, mRNA (cDNA clone MGC:33793 IMAGE:5261326), complete cds. A28102 - Human GABAa receptor alpha-3 subunit. S62908 - gamma-aminobutyric acidA receptor alpha 3 subunit [human, fetal brain, mRNA, 1637 nt]. DQ892408 - Synthetic construct clone IMAGE:100005038; FLH186078.01X; RZPDo839A0971D gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3) gene, encodes complete protein. AK312404 - Homo sapiens cDNA, FLJ92736, highly similar to Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. KJ896845 - Synthetic construct Homo sapiens clone ccsbBroadEn_06239 GABRA3 gene, encodes complete protein. DQ895621 - Synthetic construct Homo sapiens clone IMAGE:100010081; FLH186074.01L; RZPDo839A0961D gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3) gene, encodes complete protein. CU688534 - Synthetic construct Homo sapiens gateway clone IMAGE:100019651 5' read GABRA3 mRNA. JD109497 - Sequence 90521 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04080 - Neuroactive ligand-receptor interaction
BioCarta from NCI Cancer Genome Anatomy Project h_flumazenilPathway - Cardiac Protection Against ROS h_gabaPathway - Gamma-aminobutyric Acid Receptor Life Cycle
Reactome (by CSHL, EBI, and GO)
Protein P34903 (Reactome details) participates in the following event(s):
R-HSA-8856398 NPTN binds GABA A receptors R-HSA-975340 GABR heteropentamers:GABA transport Cl- from extracellular region to cytosol R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission R-HSA-112315 Transmission across Chemical Synapses R-HSA-977441 GABA A receptor activation R-HSA-112316 Neuronal System R-HSA-977443 GABA receptor activation
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