Human Gene GABRB1 (uc010igg.2)
  Description: Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.
RefSeq Summary (NM_000812): The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr4:47,033,295-47,046,387 Size: 13,093 Total Exon Count: 4 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:47,033,295-47,046,387)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGeneNetworkH-INVHGNCHuman Cortex Gene Expression
LynxMalacardsPubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GABRB1
CDC HuGE Published Literature: GABRB1
Positive Disease Associations: alcohol dependence , Body Height , Creatinine , Echocardiography , epilepsy , manic-depressive illness , Waist Circumference
Related Studies:
  1. alcohol dependence
    Parsian A et al. 1999, Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene., American journal of medical genetics. 1999 Oct;88(5):533-8. [PubMed 10490712]
    Results with TH and DRD4 genes indicate that these two genes may not play major roles in the development of alcoholism.
  2. Body Height
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  3. Body Height
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: GABRB1
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 45* (1230), schizoaffective disorder (6), schizophrenia (5), alcohol dependence (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.88 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 14.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  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
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK225686 - Homo sapiens mRNA for Gamma-aminobutyric-acid receptor beta-1 subunit precursor variant, clone: SYN05435.
BC022449 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1, mRNA (cDNA clone MGC:25991 IMAGE:4797401), complete cds.
AK225167 - Homo sapiens mRNA for Gamma-aminobutyric-acid receptor beta-1 subunit precursor (GABA(A) receptor) variant, clone: CBR02137.
X14767 - Human mRNA for GABA-A receptor, beta 1 subunit.
AK312720 - Homo sapiens cDNA, FLJ93124, highly similar to Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.
AK293691 - Homo sapiens cDNA FLJ57719 complete cds, highly similar to Gamma-aminobutyric-acid receptor beta-1 subunit precursor.
AB385048 - Synthetic construct DNA, clone: pF1KB5121, Homo sapiens GABRB1 gene for gamma-aminobutyric-acid receptor subunit beta-1 precursor, complete cds, without stop codon, in Flexi system.
KJ534841 - Homo sapiens clone GABRB1_iso-A_adult-A03 gamma-aminobutyric acid A receptor beta 1 isoform A (GABRB1) mRNA, partial cds, alternatively spliced.
KJ535054 - Homo sapiens clone GABRB1_iso-B_fetal-F13 gamma-aminobutyric acid A receptor beta 1 isoform B (GABRB1) mRNA, complete cds, alternatively spliced.
DQ892357 - Synthetic construct clone IMAGE:100004987; FLH185502.01X; RZPDo839B11148D gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1) gene, encodes complete protein.
DQ893370 - Synthetic construct clone IMAGE:100006000; FLH196710.01X; RZPDo839H02156D gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1) gene, encodes complete protein.
DQ895564 - Synthetic construct Homo sapiens clone IMAGE:100010024; FLH185498.01L; RZPDo839B11147D gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1) gene, encodes complete protein.
DQ896690 - Synthetic construct Homo sapiens clone IMAGE:100011150; FLH263663.01L; RZPDo839H01155D gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1) gene, encodes complete protein.
DQ896691 - Synthetic construct Homo sapiens clone IMAGE:100011151; FLH196706.01L; RZPDo839H02155D gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1) gene, encodes complete protein.
CU692622 - Synthetic construct Homo sapiens gateway clone IMAGE:100019567 5' read GABRB1 mRNA.
AK296023 - Homo sapiens cDNA FLJ60591 complete cds, moderately similar to Gamma-aminobutyric-acid receptor beta-1 subunit precursor.
AK307120 - Homo sapiens cDNA, FLJ97068.

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

-  Other Names for This Gene
  Alternate Gene Symbols: AK307120
UCSC ID: uc010igg.2
RefSeq Accession: NM_000812

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: AK307120.1
exon count: 4CDS single in 3' UTR: no RNA size: 1630
ORF size: 0CDS single in intron: no Alignment % ID: 99.69
txCdsPredict score: 453.00frame shift in genome: no % Coverage: 100.00
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no 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.