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.
MalaCards Disease Associations
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Comparative Toxicogenomics Database (CTD)
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Common Gene Haplotype Alleles
Generated from 1000 Genomes Phase1 variants (help). Note the association of SNP alleles within a haplotype is statistically imputed rather than directly observed in most cases.
Restricted to 0 non-synonymous, common variant sites with a frequency of occurrence of at least 1%.
0 non-reference haplotypes were found using common variants.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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Protein Domain and Structure Information
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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.
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
Other Names for This Gene
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Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_000808.3
exon count:
10
CDS single in 3' UTR:
no
RNA size:
2785
ORF size:
1479
CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
3158.00
frame shift in genome:
no
% Coverage:
100.00
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0
# strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.
