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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:151,335,634-151,619,831)mRNA (may differ from genome)Protein (492 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MGIneXtProtOMIMPubMedReactomeStanford SOURCE
TreefamUniProtKBWikipedia

+  Comments and Description Text from UniProtKB
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+  Genetic Association Studies of Complex Diseases and Disorders
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-  MalaCards Disease Associations
  MalaCards Gene Search: GABRA3
Diseases sorted by gene-association score: thyrotoxic periodic paralysis* (14), mucopolysaccharidosis ii (7), reflex sympathetic dystrophy (6), rett syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  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
  InterPro Domains: Graphical view of domain structure
IPR006028 - GABAA_rcpt
IPR001390 - GABAAa_rcpt
IPR005433 - GABBAa3_rcpt
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

SCOP Domains:
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore

ModBase Predicted Comparative 3D Structure on P34903
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

+  Orthologous Genes in Other Species
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+  Descriptions from all associated GenBank mRNAs
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+  Biochemical and Signaling Pathways
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+  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: 10CDS single in 3' UTR: no RNA size: 2785
ORF size: 1479CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3158.00frame 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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