GABRB1 Gene
protein-coding GIFtS : 68
GCID: GC04 P046949
gamma-aminobutyric acid (GABA) A receptor, beta 1
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Aliasesfor GABRB1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 1 1 2 GABA(A) Receptor Subunit Beta-12 3 GABA(A) Receptor, Beta 12 Gamma-Aminobutyric Acid Receptor Subunit Beta-12
Export aliases for GABRB1 gene to outside databases Previous GC identifers: GC04P047104 GC04P047342 GC04P046883 GC04P046874 GC04P046728 GC04P046352
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Summariesfor GABRB1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for GABRB1 : 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) UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505 Function : GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by bindingto the GABA/benzodiazepine receptor and opening an integral chloride channel summary
for GABRB1 : GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediatingthe inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consistingof 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 witha single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sitesfor benzodiazepines, barbiturates, neurosteroids and ethanol. Gene Wiki entry for GABRB1
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Genomic Viewsfor GABRB1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000004.11 NC_018915.1 NT_006238.11 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the GABRB1 gene promoter: HOXA9 HOXA9B NF-AT4 NF-AT2 HFH-1 NF-AT3 Meis-1a NF-AT1 NF-AT Meis-1 Other transcription factors Search SABiosciences Chromatin IP Primers for GABRB1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat GABRB1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 4p12 Ensembl cytogenetic band: 4p12 HGNC cytogenetic band: 4p12 GABRB1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 4 GeneLoc Exon Structure
GeneLoc location for GC04P046949: view genomic region
(about GC identifiers )
Start:
46,995,740 bp from pter
End:
47,428,462 bp from pter
Size:
432,723 bases
Orientation:
plus strand
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Proteinsfor GABRB1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505 (See
protein sequence )Recommended Name: Gamma-aminobutyric acid receptor subunit beta-1 precursor Size : 474 amino acids; 54235 Da
Subunit : Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha,beta, gamma, delta, and rho. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (By similarity)
Subcellular location : Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;Multi-pass membrane protein
Secondary accessions : B2R6U7 Q16166 Q8TBK3Explore the universe of human proteins at neXtProt for GABRB1: NX_P18505 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P18505 GABRB1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000803.2 ENSEMBL proteins: ENSP00000426753 ENSP00000295454 ENSP00000426766 ENSP00000440330 Reactome Protein details: P18505 Human Recombinant Protein Products: Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10 ): About this table
GABRB1 for ontologies About GeneDecksing GABRB1 Antibody Products: Assay Products for GABRB1:
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Protein
Domains / Familiesfor GABRB1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
GABRB1 for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry P18505 ProtoNet protein and cluster: P18505
3 Blocks protein families : IPB002289 Gamma-aminobutyric-acid A receptor beta subunit signature IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature IPB006201 Neurotransmitter-gated ion-channel UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505 Similarity : Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5)subfamily. GABRB1 sub-subfamily
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Functionfor GABRB1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505 Function : GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by bindingto the GABA/benzodiazepine receptor and opening an integral chloride channel
Genatlas biochemistry entry for GABRB1 : gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta subunit 1,component of a pentameric receptor mediating inhibitory neurotransmission,(no evident association of GABRB1 polymorphism (H396Q) with schizophrenia) Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for GABRB1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for GABRB1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: GABRB1 (NM_000812 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GABRB1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GABRB1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB1
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0004890 GABA-A receptor activity
IEA -- GO:0005230 extracellular ligand-gated ion channel activity
IEA -- GO:0005254 chloride channel activity
IEA -- GO:0050811 GABA receptor binding
IEA --
GABRB1 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for GABRB1 :
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Pathways & Interactionsfor GABRB1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/11 super-pathways (see all 11 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 GABA A receptor activation 2 Transmission across Chemical Synapses 3 Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 4 G Protein Signaling Pathways 5 Ion channel transport
Pathway sources See GeneCards unified pathways Show all pathways 3 EMD Millipore Pathways for GABRB1 1 R&D Systems Pathway for GABRB1 2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRB1 1 Tocris Bioscience Pathway for GABRB1 2 GeneGo (Thomson Reuters) Pathways for GABRB1 5/8
Reactome Pathways for GABRB1 (see all 8 )1
Kegg Pathway (Kegg details for GABRB1) :
GABRB1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GABRB1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 17)5/17 Interacting proteins for GABRB1 (P18505 3 ENSP00000295454 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 17 )About this table Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10 ): About this table
GABRB1 for ontologies About GeneDecksing
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Drugs & Compoundsfor GABRB1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
GABRB1 for compounds About GeneDecksing Compounds for GABRB1 available from Tocris Bioscience About this table Compound Action
CAS
# Muscimol Potent GABAA agonist [2763-96-4] (+)-Bicuculline Potent GABAA antagonist [485-49-4] Indiplon Subtype-selective GABAA receptor positive allosteric modulator [325715-02-4] L-655,708 Selective for alpha5-containing GABAA receptors [130477-52-0] SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]
2 HMDB Compounds for GABRB1 About this table 10/26 DrugBank Compounds for GABRB1 (see all 26 ) About this table 1 Novoseek chemical compound relationship for GABRB1 gene About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
gaba
54.7
1
10447508 (1)
Search CenterWatch for drugs/clinical trials and news about GABRB1 / GBRB1
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Transcriptsfor GABRB1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for GABRB1 gene: NM_000812.3 Unigene Cluster for GABRB1:
Gamma-aminobutyric acid (GABA) A receptor, beta 1 Hs.27283 [show with all ESTs ] Unigene Representative Sequence: AK127001 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000513567 ENST00000295454 (uc003gxh.3 uc011bze.2 ) ENST00000509366 (uc010igg.2 )ENST00000381582 (uc011bzd.1 ) ENST00000510909 ENST00000538619 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for GABRB1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for GABRB1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: GABRB1 (NM_000812 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GABRB1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GABRB1
Additional cDNA sequence: AK127001.1 AK225167.1 AK225686.1 AK293691.1 AK296023.1 AK307120.1 AK312720.1 BC022449.1 X14767.1
7 DOTS entries : DT.100736124 DT.121242475
DT.306766 DT.100651213 DT.95226531 DT.86844311 DT.97804655 24 AceView cDNA sequences :
CR614851 T48783 AU120212 BC022449 AU146340 AK127001 NM_000812 BP345257 AU099641 BX493012 CB117591 BI915562 X14767 AL539372 AW301170 BG709494 AL539373 BM925256 N55240 BG704311 R45230 BF364194 BP348730 R24969 GeneLoc Exon Structure
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Expression for GABRB1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section GABRB1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTTACAAACA
About this image GABRB1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See GABRB1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for GABRB1 SOURCE GeneReport for Unigene cluster: Hs.27283 SABiosciences Expression via Pathway-Focused PCR Arrays including GABRB1 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for GABRB1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat GABRB1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat GABRB1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat GABRB1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB1
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Orthologsfor GABRB1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for GABRB1 gene from 5/17 species (see all 17 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
GABRQ1
gamma-aminobutyric acid (GABA) receptor, theta
68.29(n) 71.61(a)
 
396288 NM_001167703.1 NP_001161175.1
lizard (Anolis carolinensis)
Reptilia
GABRB16
--
80(a)
1 ↔ 1
GL343293.1(256635-301301)
zebrafish (Danio rerio)
Actinopterygii
LOC5665141
similar to gamma-aminobutyric acid receptor beta subunit
68.45(n) 74.55(a)
 
566514 XM_689786.5 XP_694878.5
fruit fly (Drosophila melanogaster)
Insecta
Lcch33
GABA-A receptor
48(a) (best of 6)
 
14A1 --
worm (Caenorhabditis elegans)
Secernentea
gab-13
GABA receptor
43(a) (best of 22)
 
III(12844721-12850963) --
ENSEMBL Gene Tree for GABRB1 (if available)TreeFam Gene Tree for GABRB1 (if available)
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Paralogsfor GABRB1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for GABRB1 gene GLRA2 2 GABRR1 2 GLRB 2 GLRA1 2 GABRD 2 GLRA4 2 GABRP 2 GABRB2 2 GABRQ 2 GABRB3 2 GLRA3 2 GABRR2 2 18/24 SIMAP similar genes for GABRB1 using alignment to 4 protein entries: GBRB1_HUMAN (see all proteins )
(see all similar genes ):GABRB3 DKFZp781L0846 GABRB2 GABRQ GABRP GABRA3 GABRA2 GLRA4 GABRD GABRA5 GABRE GABRR2 GABRA6 GABRG3 GABRR1 GABRR3 GLRA2 GABRA1
GABRB1 for paralogs About GeneDecksing
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Genomic Variantsfor GABRB1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for GABRB1 3 CNVs : 68711 98705 92077 1 Indel : 60469 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing GABRB1
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Disorders
/ Diseasesfor GABRB1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
GABRB1 for disorders About GeneDecksing
OMIM gene information: 137190
OMIM disorders : --11 diseases for GABRB1 : About MalaCards manic-depressive illness schizophrenia temporal lobe epilepsy anorexia nervosa alcohol dependence panic disorder bipolar disorder alcoholism seizures cerebritis neuronitis 3 diseases from the University of Copenhagen DISEASES database for GABRB1 :Alcohol dependence Schizoaffective disorder Autistic disorder Genetic Association Database (GAD): GABRB1 Human Genome Epidemiology (HuGE) Navigator: GABRB1 (17 documents) Export disorders for GABRB1 gene to outside databases
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Publicationsfor GABRB1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for GABRB1 gene, integrated from 9 sources (see all 78 ) (see top 10 ): (articles sorted by number of sources associating them with GABRB1) Utopia : connect your pdf to the dynamic world of online information
Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy. (PubMed id 16278087) 1 , 4 Ren L....Shen Y. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. (PubMed id 12601092) 1 , 4 Gambardella A....Quattrone A. (2003) Exonic variants of the GABA(B) receptor gene and panic disorder. (PubMed id 11324945) 1 , 4 Sand P.G....Deckert J. (2000) Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia. (PubMed id 8178835) 1 , 2 Coon H.... Wender P. (1994) Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1). (PubMed id 1655634) 1 , 2 Kirkness E.F.... Venter J.C. (1991) Differential expression of gamma-aminobutyric acidA receptor subunits. (PubMed id 2160058) 1 , 2 Garrett K.M.... Blume A.J. (1990) Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. (PubMed id 2465923) 1 , 2 Schofield P.R....Seeburg P.H. (1989) Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. (PubMed id 10490712) 4, 9 Parsian A. and Zhang Z.H. (1999) Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724) 1 Udeshi N.D....Carr S.A. (2012) Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy. (PubMed id 20848605) 1 de Moura J.C....Carlotti Junior C.G. (2012) New insight into the central benzodiazepine receptor- ligand interactions: design, synthesis, biological evaluation, and molecular mo deling of 3-substituted 6-phenyl-4H-imidazo[1,5-a][1,4]benzodiazepines and rela ted compounds. (PubMed id 21751815) 1 Anzini M....Biggio G. (2011) [The expression of GABA(A) receptor alpha1 and GABA(B) receptor 1 in medulla oblongata solitary nucleus and ambiguous nucleus in the c ases of tramadol intoxication]. (PubMed id 22393585) 1 Zhang S....Fan Y.Y. (2011) Lamina-specific alterations in cortical GABA(A) recept or subunit expression in schizophrenia. (PubMed id 20843900) 1 Beneyto M....Lewis D.A. (2011) Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064) 1 Pinheiro A.P....Woodside D.B. (2010) Dual actions of lindane (I^-hexachlorocyclohexane) on calcium homeostasis and exocytosis in rat PC12 cells. (PubMed id 20600211) 7 Heusinkveld H.J....Westerink R.H. (2010) Atypical behavioural effects of lorazepam: clues to t he design of novel therapies? (PubMed id 20138190) 7 Giersch A....Vidailhet P. (2010) Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461) 1 Bennett E.J....Harper J.W. (2010) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Genetic utility of broadly defined bipolar schizoaffe ctive disorder as a diagnostic concept. (PubMed id 19567891) 1 Hamshere M.L....McGuffin P. (2009) Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574) 1 Tabakoff B....Hoffman P.L. (2009) Multiple modes for conferring surface expression of homomeric beta1 GABAA receptors. (PubMed id 18650446) 1 Bracamontes J.R. and Steinbach J.H. (2008) Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961) 1 Craddock N....O'Donovan M.C. (2008) Benzodiazepine metabolism: an analytical perspective. (PubMed id 18855614) 7 Mandrioli R....Raggi M.A. (2008) Benzodiazepines in epilepsy: pharmacology and pharmac okinetics. (PubMed id 18384456) 7 Riss J....Collins S. (2008) Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses. (PubMed id 18281286) 1 Saras A....Hatt H. (2008) Do motor control genes contribute to interindividual variability in decreased movement in patients with pain? (PubMed id 17655760) 1 Mishra B.K....Max M.B. (2007) How many drug targets are there? (PubMed id 17139284) 7 Overington J.P....Hopkins A.L. (2006) Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. (PubMed id 16770606) 1 Collins A.L....Pericak-Vance M.A. (2006) Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423) 7 Imming P....Meyer A. (2006) The polymorphism GABABR1 T1974C[rs29230] of the GABAB receptor gene is not associated with the diagnosis of alcoholism or alcohol withdrawal seizures. (PubMed id 16800828) 1 Kohnke M....Batra A. (2006) [A mechanism for gamma-hydroxybutyrate (GHB) as a drug and a substance of abuse] (PubMed id 15745703) 7 Maitre M....Andriamampandry C. (2005) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 Ota T.... Sugano S. (2004) The brefeldin A-inhibited GDP/GTP exchange factor 2, a protein involved in vesicular trafficking, interacts with the beta subunits of the GABA receptors. (PubMed id 15198677) 1 Charych E.I....De Blas A.L. (2004) GABAA receptor beta subunit mRNA expression in the human alcoholic brain. (PubMed id 15337300) 1 Buckley S.T. and Dodd P.R. (2004) Identification of a residue in the gamma-aminobutyric acid type A receptor alpha subunit that differentially affects diazepam-sensit ive and -insensitive benzodiazepine site binding. (PubMed id 15009644) 7 Derry J.M....Davies M. (2004) The organochlorine pesticides gamma-hexachlorocyclohe xane (lindane), alpha-endosulfan and dieldrin differentially interact with GABA (A) and glycine-gated chloride channels in primary cultures of cerebellar granu le cells. (PubMed id 12614680) 7 Vale C....SuA+ol C. (2003) A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits. (PubMed id 12595241) 1 Brandon N.J....Moss S.J. (2003) Chloride channels as tools for developing selective i nsecticides. (PubMed id 14635176) 7 Bloomquist J.R. (2003) Candidate genes for alcohol dependence: a review of genetic evidence from human studies. (PubMed id 12766633) 4 Dick D.M. and Foroud T. (2003) [Cardiotoxicity of lindane, a gamma isomer of hexachlorocyclohexane] (PubMed id 12645305) 7 Sauviat M.P. and Pages N. (2002) A new benzodiazepine pharmacology. (PubMed id 11752090) 7 MAPhler H....Rudolph U. (2002) Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus. (PubMed id 11891318) 1 Porjesz B....Begleiter H. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) GABA(A) receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1. (PubMed id 11528422) 1 Bedford F.K....Moss S.J. (2001) Unique phosphorylation mechanism of Gab1 using PI 3-kinase as an adaptor protein. (PubMed id 11606067) 1 Onishi-Haraikawa Y....Asano T. (2001) Interaction between GABA(A) receptor beta subunits and the multifunctional protein gC1q-R. (PubMed id 11350968) 1 Schaerer M.T....Sigel E. (2001) A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory. (PubMed id 11140838) 1 Comings D.E....MacMurray J.P. (2000) Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex. (PubMed id 11085308) 1 Buckley S.T....Dodd P.R. (2000) An initiator element mediates autologous downregulation of the human type A gamma -aminobutyric acid receptor beta 1 subunit gene. (PubMed id 10900018) 1 Russek S.J....Farb D.H. (2000) The Protein Data Bank. (PubMed id 10592235) 7 Berman H.M....Bourne P.E. (2000) Theta, a novel gamma-aminobutyric acid type A receptor subunit. (PubMed id 10449790) 1 Bonnert T.P.... Whiting P.J. (1999) Evolution of GABA(A) receptor diversity in the human genome. (PubMed id 10023064) 1 Russek S.J. (1999) Role of GABA receptor complex in low dose lindane (HC H) induced neurotoxicity: neurobehavioural, neurochemical and electrophysiologi cal studies. (PubMed id 9530529) 7 Anand M....Seth P.K. (1998) Adjacent phosphorylation sites on GABAA receptor beta subunits determine regulation by cAMP-dependent protein kinase. (PubMed id 10195104) 1 McDonald B.J....Smart T.G. (1998) A study of genetic association between manic-depressive illness and a highly polymorphic marker from the GABRbeta-1 gene. (PubMed id 9184321) 4 Puertollano R....Fernandez-Piqueras J. (1997) Neuronal ion channels as the target sites of insecticides. (PubMed id 8841090) 7 Narahashi T. (1996) Lindane blocks GABAA-mediated inhibition and modulate s pyramidal cell excitability in the rat hippocampal slice. (PubMed id 7566682) 7 Joy R.M....Albertson T.E. (1995) Drosophila GABA-gated chloride channel: modified [3H] EBOB binding site associated with Ala-->Ser or Gly mutants of Rdl subunit. (PubMed id 7885191) 7 Cole L.M....Casida J.E. (1995) Molecular determinants of recognition and activation at the cerebellar benzodiazepine receptor site. (PubMed id 7773620) 7 Schove L.T....Loew G.H. (1994) A selective fluorimetric method for the determination of some 1,4-benzodiazepine drugs containing a hydroxyl group at C-3. (PubMed id 7849137) 7 Walash M.I....Hefnawy M.M. (1994) Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298) 1 Maruyama K. and Sugano S. (1994) Functional modulation of GABAA receptors by cAMP-dependent protein phosphorylation. (PubMed id 1323140) 1 Moss S.J....Huganir R.L. (1992) Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor. (PubMed id 1321150) 1 Moss S.J....Huganir R.L. (1992) Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism. (PubMed id 1652891) 1 Dean M....Goldman D. (1991) Selective affinity of the benzodiazepines quazepam an d 2-oxo-quazepam for BZ1 binding site and demonstration of 3H-2-oxo-quazepam as a BZ1 selective radioligand. (PubMed id 2892106) 7 Billard W....Barnett A. (1988) Benzodiazepine receptor binding of triazolobenzodiaze pines in vivo: increased receptor number with low-dose alprazolam. (PubMed id 2889803) 7 Miller L.G....Paul S.M. (1987) Benzodiazepine receptors and their relationship to th e treatment of epilepsy. (PubMed id 3017690) 7 Meldrum B.S. and Chapman A.G. (1986) [Racemation of the benzodiazepines camazepam and keta zolam and receptor binding of enantiomers]. (PubMed id 2874815) 7 Blaschke G....MA1ller W.E. (1986) Autoradiographic demonstration of the selectivity of two 1-N-trifluoroethyl benzodiazepines for the BZD-1 receptors in the rat brain . (PubMed id 2867566) 7 Wamsley J.K....Barnett A. (1985) Benzodiazepines and their metabolites: relationship b etween binding affinity to the benzodiazepine receptor and pharmacological acti vity. (PubMed id 2857046) 7 Nakatsuka I....Yoshitake A. (1985) Selective affinity of 1-N-trifluoroethyl benzodiazepi nes for cerebellar type 1 receptor sites. (PubMed id 6738302) 7 Iorio L.C....Billard W. (1984) Determination of biological activity of adinazolam an d its metabolites. (PubMed id 6148400) 7 Sethy V.H....Daniels E.G. (1984) Pharmacological profile of the antidepressant adinazo lam, a triazolobenzodiazepine. (PubMed id 6320036) 7 Lahti R.A....Hester J.B. (1983) Pharmacological characterization of benzodiazepine re ceptors in the brain. (PubMed id 639854) 7 Braestrup C. and Squires R.F. (1978) Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (PubMed id 16080114) 9 Ma D.Q....Pericak-Vance M.A. (2005)
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PharmGKB entry for GABRB1 Pharmacogenomics, SNPs, Pathways Protein Spotlight http://web.expasy.org/spotlight/back_issues/sptlt056.shtml
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About This Section Patent Information for GABRB1 gene: Search GeneIP for patents involving GABRB1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor GABRB1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
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