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Aliases for GABRB1 Gene

Aliases for GABRB1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Beta1 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 1 2 5
  • 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 Type A Receptor Beta1 Subunit) is a Protein Coding gene. Diseases associated with GABRB1 include Schizophrenia and Alcohol Dependence. Among its related pathways are Apoptosis Pathway and Transmission across Chemical Synapses. 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 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

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

Enhancers for GABRB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GABRB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRB1 Gene

Chromosome:
4
Start:
46,993,723 bp from pter
End:
47,427,343 bp from pter
Size:
433,621 bases
Orientation:
Plus strand

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

Proteomics data for GABRB1 Gene at MOPED

Post-translational modifications for GABRB1 Gene

  • Glycosylation at Asn 105 and Asn 174
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRB1 Gene

Domains & Families for GABRB1 Gene

Gene Families for GABRB1 Gene

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 (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 --
genes like me logo Genes that share ontologies with GABRB1: view
genes like me logo Genes that share phenotypes with GABRB1: view

Animal Model Products

miRNA for GABRB1 Gene

miRTarBase miRNAs that target GABRB1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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
vacuole 1

Gene Ontology (GO) - Cellular Components for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with GABRB1: view

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:0006811 ion transport ISS --
GO:0021954 central nervous system neuron development IEA --
GO:0032570 response to progesterone IEA --
GO:0055085 transmembrane transport TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 4
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 19

(6) Additional Compounds for GABRB1 Gene - From: Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Isoguvacine hydrochloride
68547-97-7
TACA
38090-53-8

(5) Tocris Compounds for GABRB1 Gene

Compound Action Cas Number
GABA Endogenous agonist 56-12-2
Isoguvacine hydrochloride Selective GABAA agonist 68547-97-7
Muscimol Potent GABAA agonist 2763-96-4
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:

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 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



SOURCE GeneReport for Unigene cluster for GABRB1 Gene Hs.27283

genes like me logo Genes that share expression patterns with GABRB1: view

Protein tissue co-expression partners for GABRB1 Gene

- Elite partner

Primer 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
rs41311286 - 47,425,856(+) CGGCA(C/G)GGGGT reference, missense
rs17852014 - 47,425,879(+) GCGCA(A/T)CCGCA reference, missense
rs6284 -- 47,320,202(+) GAGAT(A/C)GAAAG reference, synonymous-codon
rs6285 -- 47,032,412(+) TCCCC(A/C/G)GCAGG intron-variant
rs6286 -- 47,403,391(+) AAAAT(A/C/T)GAACT reference, synonymous-codon

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

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GABRB1 Gene

Disorders for GABRB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GABRB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • schizophrenia 12
alcohol dependence
  • alcohol dependence, protection against
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRB1

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

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRB1 Gene

Publications for GABRB1 Gene

  1. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3 4 67
  2. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  3. Dual actions of lindane (I^-hexachlorocyclohexane) on calcium homeostasis and exocytosis in rat PC12 cells. (PMID: 20600211) Heusinkveld H.J. … Westerink R.H. (Toxicol. Appl. Pharmacol. 2010) 25 26
  4. Benzodiazepines in epilepsy: pharmacology and pharmacokinetics. (PMID: 18384456) Riss J. … Collins S. (Acta Neurol. Scand. 2008) 25 26
  5. Benzodiazepine metabolism: an analytical perspective. (PMID: 18855614) Mandrioli R. … Raggi M.A. (Curr. Drug Metab. 2008) 25 26

Products for GABRB1 Gene

Sources for GABRB1 Gene

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