Human Gene GABBR1 (uc011goz.1) Description and Page Index
  Description: Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.
RefSeq Summary (NM_001470): Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jun 2009].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:879,403-903,154 Size: 23,752 Total Exon Count: 14 Strand: -
Coding Region
   Position: chr6_mann_hap4:879,507-903,154 Size: 23,648 Coding Exon Count: 14 

Page IndexSequence and LinksGenetic AssociationsCTDMicroarrayRNA Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
  Press "+" in the title bar above to open this section.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: GABBR1
CDC HuGE Published Literature: GABBR1
Positive Disease Associations: schizophrenia , sleep apnea
Related Studies:
  1. schizophrenia
    Zai, G. et al. 2005, Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia., European neuropsychopharmacology. 2005 May;15(3):347-52. [PubMed 15820424]
    Further investigations of the role of GABBR1 in SCZ are warranted.
  2. schizophrenia
    Zhao, X. et al. 2007, Systematic study of association of four GABAergic genes, Schizophr Res 2007. [PubMed 17412563]
  3. sleep apnea
    Bayazit, Y. A. et al. 2007, Association of GABA(B)R1 Receptor Gene Polymorphism with Obstructive Sleep Apnea Syndrome, ORL J Otorhinolaryngol Relat Spec 2007 69(3) 190-197. [PubMed 17264536]
    The Ala20Val polymorphism of the GABA(B)R1 gene may be associated with OSAS, whereas Gly489Ser polymorphism does not seem to be involved in OSAS.
           more ... click here to view the complete list

-  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

      
      
      
     
    
     
Ratios
      
      
      
     
    
     
Absolute
      
       
      
      
     
    
Ratios
      
       
      
      
     
    
Absolute
   
     
     
Ratios
   
     
     
Absolute

GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
Ratios
      
    
     
      
    
    
Absolute
      
      
      
Ratios
      
      
      
Absolute

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -27.40104-0.263 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.

-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  BC051463 - Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1, mRNA (cDNA clone IMAGE:5299098), **** WARNING: chimeric clone ****.
AJ225028 - Homo sapiens mRNA for GABA-B R1a receptor.
Y11044 - Homo sapiens mRNA for GABA-BR1a (hGB1a) receptor.
BC050532 - Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1, mRNA (cDNA clone MGC:57575 IMAGE:5732186), complete cds.
AJ012288 - Homo sapiens mRNA for GABA-BR1.
BC023336 - Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1, mRNA (cDNA clone IMAGE:4934044).
BC042598 - Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1, mRNA (cDNA clone MGC:24911 IMAGE:4938491), complete cds.
BC041332 - Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1, mRNA (cDNA clone MGC:41792 IMAGE:5275467), complete cds.
AB208790 - Homo sapiens mRNA for gamma-aminobutyric acid (GABA) B receptor 1 isoform c precursor variant protein.
AK290191 - Homo sapiens cDNA FLJ77697 complete cds, highly similar to Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 2, mRNA.
AJ225029 - Homo sapiens mRNA for GABA-B R1b receptor.
AF099148 - Homo sapiens GABA-B1a receptor mRNA, complete cds.
AK223619 - Homo sapiens mRNA for gamma-aminobutyric acid (GABA) B receptor 1 isoform b precursor variant, clone: FCC134B02.
AJ012186 - Homo sapiens mRNA for GABAB receptor, subunit 1b.
AK312308 - Homo sapiens cDNA, FLJ92613, Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1),transcript variant 2, mRNA.
AJ012185 - Homo sapiens mRNA for GABAB-receptor, subunit 1a.
AJ012187 - Homo sapiens mRNA for GABAB receptor, subunit 1c.
AB527851 - Synthetic construct DNA, clone: pF1KB8525, Homo sapiens GABBR1 gene for gamma-aminobutyric acid (GABA) B receptor, 1, without stop codon, in Flexi system.
AF301005 - Homo sapiens gamma-aminobutyric acid receptor GABA-B1e mRNA, complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

-  Other Names for This Gene
  Alternate Gene Symbols: AF301005, C9JBK4, C9JBK4_HUMAN
UCSC ID: uc011goz.1
RefSeq Accession: NM_001470

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AF301005.1
exon count: 14CDS single in 3' UTR: no RNA size: 1740
ORF size: 1737CDS single in intron: no Alignment % ID: 99.83
txCdsPredict score: 3425.00frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 7
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.