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Aliases for GABRB1 Gene

Aliases for GABRB1 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 1 2 3
  • GABA(A) Receptor Subunit Beta-1 4
  • GABA(A) Receptor 2
  • Beta 1 2

External Ids for GABRB1 Gene

Previous GeneCards Identifiers for GABRB1 Gene

  • GC04P047104
  • GC04P047342
  • GC04P046883
  • GC04P046874
  • GC04P046728
  • GC04P046352

Summaries for GABRB1 Gene

Entrez Gene Summary for GABRB1 Gene

  • 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]

GeneCards Summary for GABRB1 Gene

GABRB1 (Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 1) is a Protein Coding gene. Diseases associated with GABRB1 include schizophrenia. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot for GABRB1 Gene

  • Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Tocris Summary for GABRB1 Gene

  • GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 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 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRB1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRB1 Gene

Genomics for GABRB1 Gene

Regulatory Elements for GABRB1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GABRB1 Gene

Start:
46,993,723 bp from pter
End:
47,426,445 bp from pter
Size:
432,723 bases
Orientation:
Plus strand

Genomic View for GABRB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRB1 Gene

Proteins for GABRB1 Gene

  • Protein details for GABRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18505-GBRB1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit beta-1
    Protein Accession:
    P18505
    Secondary Accessions:
    • B2R6U7
    • D6REL3
    • Q16166
    • Q8TBK3

    Protein attributes for GABRB1 Gene

    Size:
    474 amino acids
    Molecular mass:
    54235 Da
    Quaternary structure:
    • Binds UBQLN1 (By similarity). Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. 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).

    Alternative splice isoforms for GABRB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRB1 Gene

Proteomics data for GABRB1 Gene at MOPED

Post-translational modifications for GABRB1 Gene

  • Glycosylation at Asn105 and Asn174
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for GABRB1 (GABA-A R beta 1)

No data available for DME Specific Peptides for GABRB1 Gene

Domains for GABRB1 Gene

Gene Families for GABRB1 Gene

HGNC:
  • GABR :GABA receptors
  • GABRA :Ligand-gated ion channels / GABA(A) receptors
IUPHAR :

Suggested Antigen Peptide Sequences for GABRB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P18505

UniProtKB/Swiss-Prot:

GBRB1_HUMAN :
  • P18505
Family:
  • 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.
genes like me logo Genes that share domains with GABRB1: view

Function for GABRB1 Gene

Molecular function for GABRB1 Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot Function:
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Gene Ontology (GO) - Molecular Function for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity ISS --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0015276 ligand-gated ion channel activity ISS --
genes like me logo Genes that share ontologies with GABRB1: view

Phenotypes for GABRB1 Gene

GenomeRNAi human phenotypes for GABRB1:
genes like me logo Genes that share phenotypes with GABRB1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRB1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for GABRB1 Gene

Localization for GABRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRB1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABRB1 Gene COMPARTMENTS Subcellular localization image for GABRB1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
endoplasmic reticulum 1
extracellular 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRB1: view

Pathways for GABRB1 Gene

genes like me logo Genes that share pathways with GABRB1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2465923
GO:0006811 ion transport ISS --
GO:0007165 signal transduction TAS 2465923
GO:0007268 synaptic transmission TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with GABRB1: view

Compounds for GABRB1 Gene

(5) Tocris Compounds for GABRB1 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist [40709-69-1]
(-)-Bicuculline methochloride Water-soluble GABAA antagonist [53552-05-9]
L-655,708 Selective for alpha5-containing GABAA receptors [130477-52-0]
Muscimol Potent GABAA agonist [2763-96-4]
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

(2) HMDB Compounds for GABRB1 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Gamma-Aminobutyric acid
  • 3-Carboxypropylamine
56-12-2

(26) Drugbank Compounds for GABRB1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adinazolam
37115-32-5 target potentiator
Alprazolam
28981-97-7 target potentiator
Bromazepam
  • 7-Bromo-5-(2-pyridyl)-3H-1,4-benzodiaxepin-2(1H)-one
1812-30-2 target potentiator
Chlordiazepoxide
58-25-3 target potentiator
Cinolazepam
75696-02-5 target potentiator

(2) IUPHAR Ligand for GABRB1 Gene

Ligand Type Action Affinity Pubmed IDs
TBPS Channel blocker None
picrotoxin Channel blocker None

(1) Novoseek inferred chemical compound relationships for GABRB1 Gene

Compound -log(P) Hits PubMed IDs
gaba 54.7 1
genes like me logo Genes that share compounds with GABRB1: view

Transcripts for GABRB1 Gene

Unigene Clusters for GABRB1 Gene

Gamma-aminobutyric acid (GABA) A receptor, beta 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRB1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRB1 Gene

No ASD Table

Relevant External Links for GABRB1 Gene

GeneLoc Exon Structure for
GABRB1
ECgene alternative splicing isoforms for
GABRB1

Expression for GABRB1 Gene

mRNA expression in normal human tissues for GABRB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRB1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (7.4), Brain - Caudate (basal ganglia) (5.5), Brain - Amygdala (5.3), and Brain - Frontal Cortex (BA9) (4.1).

Protein differential expression in normal tissues for GABRB1 Gene

This gene is overexpressed in Frontal cortex (56.0) and Brain (13.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GABRB1 Gene

SOURCE GeneReport for Unigene cluster for GABRB1 Gene Hs.27283

genes like me logo Genes that share expressions with GABRB1: view

Expression partners for GABRB1 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GABRB1 Gene

Orthologs for GABRB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRB1 35
  • 92.69 (n)
  • 97.89 (a)
GABRB1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRB1 35
  • 90.23 (n)
  • 94.34 (a)
GABRB1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrb1 35
  • 91.7 (n)
  • 98.1 (a)
Gabrb1 16
Gabrb1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRB1 35
  • 99.86 (n)
  • 100 (a)
GABRB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrb1 35
  • 91.28 (n)
  • 98.31 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRB1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GABRQ 35
  • 68.29 (n)
  • 71.61 (a)
GABRB1 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRB1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrb1 35
  • 76.23 (n)
  • 87.13 (a)
zebrafish
(Danio rerio)
Actinopterygii gabrb1 35
  • 73.9 (n)
  • 84.12 (a)
GABRB1 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11340 37
  • 27 (a)
CG6927 37
  • 24 (a)
CG7589 37
  • 25 (a)
Lcch3 37
  • 48 (a)
ort 37
  • 34 (a)
Rdl 37
  • 46 (a)
Lcch3 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C39B10.2 37
  • 33 (a)
C53D6.3 37
  • 29 (a)
F09G2.5 37
  • 27 (a)
F11H8.2 37
  • 34 (a)
F55D10.5 37
  • 25 (a)
F58G6.4 37
  • 27 (a)
gab-1 37
  • 43 (a)
gbr-4 37
  • 32 (a)
gbr-5 37
  • 37 (a)
gbr-6 37
  • 32 (a)
glc-1 37
  • 41 (a)
glc-2 37
  • 38 (a)
glc-4 37
  • 39 (a)
K10D6.1 37
  • 29 (a)
T15B7.16 37
  • 31 (a)
T20B12.9 37
  • 23 (a)
T24D8.1 37
  • 34 (a)
T27E9.9 37
  • 29 (a)
W10G11.16 37
  • 35 (a)
Y46G5A.26 37
  • 35 (a)
Y71D11A.5 37
  • 28 (a)
Y73F8A.2 37
  • 27 (a)
gab-1 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
Species with no ortholog for GABRB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GABRB1 Gene

ENSEMBL:
Gene Tree for GABRB1 (if available)
TreeFam:
Gene Tree for GABRB1 (if available)

Paralogs for GABRB1 Gene

genes like me logo Genes that share paralogs with GABRB1: view

Variants for GABRB1 Gene

Sequence variations from dbSNP and Humsavar for GABRB1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs6284 -- 47,320,202(+) GAGAT(A/C)GAAAG synonymous-codon, reference
rs6285 -- 47,032,412(+) TCCCC(A/G)GCAGG intron-variant
rs6286 -- 47,403,391(+) AAAAT(A/C/T)GAACT synonymous-codon, reference
rs6287 -- 47,406,648(+) GTGGC(A/G)CCTTC intron-variant
rs6288 -- 47,425,922(+) GACTT(A/G)ACTGA synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for GABRB1 Gene

Variant ID Type Subtype PubMed ID
nsv829922 CNV Gain 17160897
nsv879003 CNV Loss 21882294
esv994776 CNV Loss 20482838
nsv4325 CNV Loss 18451855
esv2576648 CNV Deletion 19546169
esv6753 CNV Gain 19470904
nsv879004 CNV Loss 21882294
nsv4326 CNV Insertion 18451855
esv2642095 CNV Deletion 19546169
esv25226 CNV Loss 19812545
nsv879005 CNV Loss 21882294
esv2667961 CNV Deletion 23128226

Relevant External Links for GABRB1 Gene

HapMap Linkage Disequilibrium report
GABRB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRB1 Gene

Disorders for GABRB1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for GABRB1 Gene in MalaCards »

(1) Diseases for GABRB1 Gene including...

(3) University of Copenhagen DISEASES for GABRB1 Gene

Relevant External Links for GABRB1

Genetic Association Database (GAD)
GABRB1
Human Genome Epidemiology (HuGE) Navigator
GABRB1
genes like me logo Genes that share disorders with GABRB1: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for GABRB1 Gene

Publications for GABRB1 Gene

  1. Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. (PMID: 10490712) Parsian A. … Zhang Z.H. (Am. J. Med. Genet. 1999) 23 48
  2. Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1). (PMID: 1655634) Kirkness E.F. … Venter J.C. (Genomics 1991) 3 4
  3. Differential expression of gamma-aminobutyric acidA receptor subunits. (PMID: 2160058) Garrett K.M. … Blume A.J. (Mol. Pharmacol. 1990) 3 4
  4. Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. (PMID: 2465923) Schofield P.R. … Seeburg P.H. (FEBS Lett. 1989) 3 4
  5. A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory. (PMID: 11140838) Comings D.E. … MacMurray J.P. (Clin. Genet. 2000) 3 48

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