Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GABRB1 Gene

Aliases for GABRB1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Beta1 Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 1 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Beta-1 3
  • GABA(A) Receptor Subunit Beta-1 4
  • GABA(A) Receptor, Beta 1 2
  • EIEE45 3

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 Type A Receptor Beta1 Subunit) is a Protein Coding gene. Diseases associated with GABRB1 include Epileptic Encephalopathy, Early Infantile, 45 and Schizoaffective Disorder. Among its related pathways are Transmission across Chemical Synapses and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB2.

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.

Tocris Summary for GABRB1 Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRB1 Gene

Additional gene information for GABRB1 Gene

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

Genomics for GABRB1 Gene

GeneHancer (GH) Regulatory Elements for GABRB1 Gene

Promoters and enhancers for GABRB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I046993 Promoter 0.8 EPDnew 550.8 -0.2 -171 0.1 MXI1 POLR2A SUZ12 ZBTB33 DPF2 EZH2 GABRB1 GABRA4 GC04M046919
GH04I047033 Promoter 0.7 EPDnew 550.3 +37.6 37603 0.1 ZNF335 NRF1 GABRB1 GABRA4 LOC105374442
GH04I047032 Promoter/Enhancer 1.2 Ensembl ENCODE 0.3 +39.0 39024 0.3 CTCF MXI1 RB1 SIN3A ZNF48 RAD21 ZNF335 SCRT2 ZNF143 ZBTB20 ENSG00000260918 GABRA4 GABRB1 LOC105374442
GH04I047011 Enhancer 0.7 ENCODE 0.4 +17.4 17356 0.2 IRF2 BACH1 BMI1 BATF IRF4 ATF7 IKZF2 ZNF687 NR2F1 TRIM22 COX7B2 GABRA4 GABRB1 LOC105374442
GH04I047031 Promoter 0.7 Ensembl 0.3 +38.1 38078 0.8 ZNF335 NRF1 ENSG00000260918 GABRA4 GABRB1 LOC105374442
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GABRB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GABRB1 gene promoter:

Genomic Locations for GABRB1 Gene

Genomic Locations for GABRB1 Gene
chr4:46,993,723-47,427,343
(GRCh38/hg38)
Size:
433,621 bases
Orientation:
Plus strand
chr4:46,995,740-47,428,462
(GRCh37/hg19)

Genomic View for GABRB1 Gene

Genes around GABRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for GABRB1 Gene

  • Glycosylation at posLast=105105 and posLast=174174

Other Protein References for GABRB1 Gene

No data available for DME Specific Peptides for GABRB1 Gene

Domains & Families for GABRB1 Gene

Gene Families for GABRB1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 :
  • 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.
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.

Phenotypes From GWAS Catalog for GABRB1 Gene

Gene Ontology (GO) - Molecular Function for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity ISS --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005253 anion channel activity IEA --
GO:0005254 chloride channel activity IEA --
genes like me logo Genes that share ontologies with GABRB1: view
genes like me logo Genes that share phenotypes with GABRB1: view

Human Phenotype Ontology for GABRB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GABRB1 Gene

miRTarBase miRNAs that target GABRB1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRB1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,ISS --
genes like me logo Genes that share ontologies with GABRB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRB1 Gene

Pathways & Interactions for GABRB1 Gene

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

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:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS 2465923
GO:0007214 gamma-aminobutyric acid signaling pathway IMP 26950270
genes like me logo Genes that share ontologies with GABRB1: view

No data available for SIGNOR curated interactions for GABRB1 Gene

Drugs & Compounds for GABRB1 Gene

(68) Drugs for GABRB1 Gene - From: DrugBank, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma Target, potentiator, agonist 0
Bromazepam Approved, Illicit, Investigational Pharma Target, potentiator, binder 2
Chlordiazepoxide Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, agonist 5
Cinolazepam Approved Pharma Target, potentiator, binder 0
Clobazam Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 22

(3) Additional Compounds for GABRB1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(4) Tocris Compounds for GABRB1 Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5
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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for GABRB1 Gene

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x7.4), Brain - Caudate (basal ganglia) (x5.5), Brain - Amygdala (x5.3), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for GABRB1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABRB1 Gene



Protein tissue co-expression partners for GABRB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRB1 Gene:

GABRB1

SOURCE GeneReport for Unigene cluster for GABRB1 Gene:

Hs.27283

Evidence on tissue expression from TISSUES for GABRB1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with GABRB1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GABRB1 33 34
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia GABRB1 33 34
  • 92.69 (n)
oppossum
(Monodelphis domestica)
Mammalia GABRB1 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrb1 33 16 34
  • 91.7 (n)
rat
(Rattus norvegicus)
Mammalia Gabrb1 33
  • 91.28 (n)
dog
(Canis familiaris)
Mammalia GABRB1 33 34
  • 90.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GABRQ 33
  • 68.29 (n)
GABRB1 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRB1 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrb1 33
  • 76.23 (n)
zebrafish
(Danio rerio)
Actinopterygii GABRB1 34
  • 78 (a)
OneToOne
gabrb1 33
  • 73.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lcch3 35 34
  • 48 (a)
Rdl 35
  • 46 (a)
ort 35
  • 34 (a)
CG11340 35
  • 27 (a)
CG7589 35
  • 25 (a)
CG6927 35
  • 24 (a)
worm
(Caenorhabditis elegans)
Secernentea gab-1 35 34
  • 43 (a)
glc-1 35
  • 41 (a)
glc-4 35
  • 39 (a)
glc-2 35
  • 38 (a)
gbr-5 35
  • 37 (a)
W10G11.16 35
  • 35 (a)
Y46G5A.26 35
  • 35 (a)
F11H8.2 35
  • 34 (a)
T24D8.1 35
  • 34 (a)
C39B10.2 35
  • 33 (a)
gbr-4 35
  • 32 (a)
gbr-6 35
  • 32 (a)
T15B7.16 35
  • 31 (a)
C53D6.3 35
  • 29 (a)
K10D6.1 35
  • 29 (a)
T27E9.9 35
  • 29 (a)
Y71D11A.5 35
  • 28 (a)
F09G2.5 35
  • 27 (a)
F58G6.4 35
  • 27 (a)
Y73F8A.2 35
  • 27 (a)
F55D10.5 35
  • 25 (a)
T20B12.9 35
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToMany
Species where no ortholog for GABRB1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs886039817 pathogenic, Epileptic encephalopathy, early infantile, 45, Epileptic encephalopathy, early infantile, 45 (EIEE45) [MIM:617153] 47,403,613(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs886039818 pathogenic, Epileptic encephalopathy, early infantile, 45, Epileptic encephalopathy, early infantile, 45 (EIEE45) [MIM:617153] 47,406,706(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs41311286 likely-benign, not provided 47,425,856(+) C/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, synonymous_variant
rs1000010539 -- 47,306,783(+) A/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000013325 -- 47,147,316(+) T/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv25226 CNV loss 19812545
esv2576648 CNV deletion 19546169
esv2642095 CNV deletion 19546169
esv2667961 CNV deletion 23128226
esv3563825 CNV deletion 23714750
nsv998919 CNV gain 25217958
nsv829922 CNV gain 17160897
nsv4326 CNV insertion 18451855
nsv4325 CNV deletion 18451855
nsv1141987 OTHER inversion 24896259
nsv1123782 CNV deletion 24896259
nsv1074709 CNV deletion 25765185
esv6753 CNV gain 19470904
esv3600448 CNV loss 21293372
esv3600446 CNV loss 21293372
esv3600443 CNV loss 21293372
esv3600442 CNV loss 21293372

Variation tolerance for GABRB1 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRB1 Gene

Human Gene Mutation Database (HGMD)
GABRB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRB1

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

Disorders for GABRB1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GABRB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GBRB1_HUMAN
  • Epileptic encephalopathy, early infantile, 45 (EIEE45) [MIM:617153]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269 PubMed:23934111, ECO:0000269 PubMed:26950270, ECO:0000269 PubMed:27273810}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GABRB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GABRB1: view

No data available for Genatlas for GABRB1 Gene

Publications for GABRB1 Gene

  1. Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function. (PMID: 26950270) Janve VS … Macdonald RL (Annals of neurology 2016) 3 4 58
  2. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58
  5. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N … O'Donovan MC (Molecular psychiatry 2010) 3 44 58

Products for GABRB1 Gene

Sources for GABRB1 Gene

Content
Loading form....