Human Gene GABRA3 (uc010ntk.1)
  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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2009-03-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:151,086,290-151,370,487)mRNA (may differ from genome)Protein (492 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuGEHuman Cortex Gene Expression
MGIOMIMPubMedReactomeTreefamUniProtKB

-  Comments and Description Text from UniProtKB
  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
  Genetic Association Database (archive): GABRA3
CDC HuGE Published Literature: GABRA3
Positive Disease Associations: depressive disorder, major , multiple sclerosis
Related Studies:
  1. 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.
  2. 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.

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

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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Affymetrix All Exon Microarrays

           
Ratios

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.90240-0.320 Picture PostScript Text
3' UTR -299.361066-0.281 Picture PostScript Text

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.

-  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

ModBase Predicted Comparative 3D Structure on P34903
FrontTopSide
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
  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0004890 GABA-A receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity
GO:0005515 protein binding
GO:0008503 benzodiazepine receptor activity

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

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0034707 chloride channel complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:1902711 GABA-A receptor complex


-  Descriptions from all associated GenBank mRNAs
  BC028629 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3, mRNA (cDNA clone MGC:33793 IMAGE:5261326), complete cds.
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.
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.
KJ620007 - Homo sapiens transcript variant CTGABRA3 (GABRA3) mRNA, complete sequence.
A28102 - Human GABAa receptor alpha-3 subunit.
KJ896845 - Synthetic construct Homo sapiens clone ccsbBroadEn_06239 GABRA3 gene, encodes complete protein.
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
  Alternate Gene Symbols: GBRA3_HUMAN, NM_000808, NP_000799, P34903, Q8TAF9, uc004ffn.1
UCSC ID: uc010ntk.1
RefSeq Accession: NM_000808
Protein: P34903 (aka GBRA3_HUMAN or GAA3_HUMAN)
CCDS: CCDS14706.1

-  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
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.