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Aliases for GABRG1 Gene

Aliases for GABRG1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Gamma1 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 1 2 5
  • GABA(A) Receptor Subunit Gamma-1 4
  • GABA(A) Receptor 2
  • Gamma 2

External Ids for GABRG1 Gene

Previous GeneCards Identifiers for GABRG1 Gene

  • GC04U990020
  • GC04M045892
  • GC04M045957
  • GC04M045878
  • GC04M045732
  • GC04M045360

Summaries for GABRG1 Gene

Entrez Gene Summary for GABRG1 Gene

  • The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRG1 Gene

GABRG1 (Gamma-Aminobutyric Acid Type A Receptor Gamma1 Subunit) is a Protein Coding gene. Diseases associated with GABRG1 include Alcohol Dependence. Among its related pathways are Apoptosis Pathway and Circadian entrainment. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA4.

UniProtKB/Swiss-Prot for GABRG1 Gene

  • GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Tocris Summary for GABRG1 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 GABRG1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRG1 Gene

Genomics for GABRG1 Gene

Regulatory Elements for GABRG1 Gene

Enhancers for GABRG1 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 GABRG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRG1 Gene

46,035,769 bp from pter
46,124,081 bp from pter
88,313 bases
Minus strand

Genomic View for GABRG1 Gene

Genes around GABRG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRG1 Gene

Proteins for GABRG1 Gene

  • Protein details for GABRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gamma-aminobutyric acid receptor subunit gamma-1
    Protein Accession:
    Secondary Accessions:
    • Q5H9T8

    Protein attributes for GABRG1 Gene

    465 amino acids
    Molecular mass:
    53595 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
    • This subunit carries the benzodiazepine binding site.

neXtProt entry for GABRG1 Gene

Proteomics data for GABRG1 Gene at MOPED

Post-translational modifications for GABRG1 Gene

Other Protein References for GABRG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRG1 Gene

Domains & Families for GABRG1 Gene

Gene Families for GABRG1 Gene

Suggested Antigen Peptide Sequences for GABRG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG1 sub-subfamily.
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG1 sub-subfamily.
genes like me logo Genes that share domains with GABRG1: view

Function for GABRG1 Gene

Molecular function for GABRG1 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,gamma 1,subunit,component of a pentameric receptor mediating inhibitory neurotransmission
UniProtKB/Swiss-Prot Function:
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Gene Ontology (GO) - Molecular Function for GABRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 contributes_to GABA-A receptor activity IBA --
genes like me logo Genes that share ontologies with GABRG1: view
genes like me logo Genes that share phenotypes with GABRG1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GABRG1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GABRG1 Gene

Localization for GABRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRG1 Gene

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

Subcellular locations from

Jensen Localization Image for GABRG1 Gene COMPARTMENTS Subcellular localization image for GABRG1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for GABRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:1902711 GABA-A receptor complex IBA --
genes like me logo Genes that share ontologies with GABRG1: view

Pathways & Interactions for GABRG1 Gene

genes like me logo Genes that share pathways with GABRG1: view

Pathways by source for GABRG1 Gene

Gene Ontology (GO) - Biological Process for GABRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
genes like me logo Genes that share ontologies with GABRG1: view

No data available for SIGNOR curated interactions for GABRG1 Gene

Drugs & Compounds for GABRG1 Gene

(60) Drugs for GABRG1 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 GABRG1 Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
Isoguvacine hydrochloride

(5) Tocris Compounds for GABRG1 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 GABRG1: view

Transcripts for GABRG1 Gene

mRNA/cDNA for GABRG1 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GABRG1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for GABRG1 Gene

No ASD Table

Relevant External Links for GABRG1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GABRG1 Gene

mRNA expression in normal human tissues for GABRG1 Gene

mRNA differential expression in normal tissues according to GTEx for GABRG1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x6.3), Brain - Nucleus accumbens (basal ganglia) (x6.2), Brain - Amygdala (x5.5), Brain - Hypothalamus (x5.4), Brain - Putamen (basal ganglia) (x4.6), Brain - Hippocampus (x4.4), Brain - Frontal Cortex (BA9) (x4.2), and Brain - Cortex (x4.1).

SOURCE GeneReport for Unigene cluster for GABRG1 Gene Hs.375051

genes like me logo Genes that share expression patterns with GABRG1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GABRG1 Gene

Orthologs for GABRG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRG1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GABRG1 35
  • 93.03 (n)
  • 94.83 (a)
  • 96 (a)
(Canis familiaris)
Mammalia GABRG1 35
  • 91.95 (n)
  • 96.12 (a)
  • 95 (a)
(Mus musculus)
Mammalia Gabrg1 35
  • 88.07 (n)
  • 95.47 (a)
Gabrg1 16
Gabrg1 36
  • 95 (a)
(Pan troglodytes)
Mammalia GABRG1 35
  • 99.86 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Gabrg1 35
  • 87.07 (n)
  • 95.47 (a)
(Monodelphis domestica)
Mammalia GABRG1 36
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia GABRG1 36
  • 78 (a)
(Gallus gallus)
Aves GABRG1 35
  • 80.92 (n)
  • 89.98 (a)
  • 87 (a)
(Anolis carolinensis)
Reptilia GABRG1 36
  • 88 (a)
(Danio rerio)
Actinopterygii LOC556202 35
  • 71.84 (n)
  • 80.47 (a)
  • 74 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8916 36
  • 26 (a)
Grd 36
  • 25 (a)
(Caenorhabditis elegans)
Secernentea lgc-36 36
  • 24 (a)
lgc-37 36
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
Species with no ortholog for GABRG1:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GABRG1 Gene

Gene Tree for GABRG1 (if available)
Gene Tree for GABRG1 (if available)

Paralogs for GABRG1 Gene

Paralogs for GABRG1 Gene

genes like me logo Genes that share paralogs with GABRG1: view

Variants for GABRG1 Gene

Sequence variations from dbSNP and Humsavar for GABRG1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs17852913 - 46,041,178(+) GATAC(C/T)CATAA reference, missense
rs976156 -- 46,084,043(+) ATTAC(C/T)GTGGG reference, synonymous-codon
rs904154 -- 46,124,354(-) AACGC(G/T)GGAGA upstream-variant-2KB
rs993677 -- 46,053,461(+) ACTAT(C/T)CCTTA intron-variant
rs993720 -- 46,049,831(+) CTACC(A/G)TCCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRG1 Gene

Variant ID Type Subtype PubMed ID
nsv461353 CNV Loss 19166990
nsv470030 CNV Loss 18288195
nsv829920 CNV Loss 17160897
nsv878987 CNV Loss 21882294
nsv878988 CNV Loss 21882294
nsv829921 CNV Gain 17160897
dgv5537n71 CNV Loss 21882294
dgv5538n71 CNV Loss 21882294
dgv5539n71 CNV Loss 21882294
nsv509894 CNV Loss 20534489
esv2727522 CNV Deletion 23290073
esv2490068 CNV Deletion 19546169
esv2113506 CNV Deletion 18987734
esv2727523 CNV Deletion 23290073
esv1007613 CNV Deletion 20482838
nsv292112 CNV Loss 16902084
esv267501 CNV Insertion 20981092

Variation tolerance for GABRG1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.79% 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 GABRG1 Gene

Disorders for GABRG1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GABRG1 Gene - From: DISEASES and GeneCards

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

Relevant External Links for GABRG1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GABRG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRG1 Gene

Publications for GABRG1 Gene

  1. Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome. (PMID: 1321425) Wilcox A.S. … Sikela J.M. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 23 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. Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4. (PMID: 17976953) Ittiwut C. … Gelernter J. (Genomics 2008) 3 23
  4. Benzodiazepines in epilepsy: pharmacology and pharmacokinetics. (PMID: 18384456) Riss J. … Collins S. (Acta Neurol. Scand. 2008) 25 26
  5. Estimating the efficiency of benzodiazepines on GABA(A) receptors comprising gamma1 or gamma2 subunits. (PMID: 18604239) Baburin I. … Hering S. (Br. J. Pharmacol. 2008) 25 26

Products for GABRG1 Gene

Sources for GABRG1 Gene