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Aliases for GABRG1 Gene

Aliases for GABRG1 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 1 2 3
  • 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 (GABA) A Receptor, Gamma 1) is a Protein Coding gene. Diseases associated with GABRG1 include alcohol dependence. 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 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, 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.

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

Genomic Location for GABRG1 Gene

Chromosome:
4
Start:
46,035,769 bp from pter
End:
46,124,081 bp from pter
Size:
88,313 bases
Orientation:
Minus strand

Genomic View for GABRG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q8N1C3-GBRG1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit gamma-1
    Protein Accession:
    Q8N1C3
    Secondary Accessions:
    • Q5H9T8

    Protein attributes for GABRG1 Gene

    Size:
    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
    Miscellaneous:
    • 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:

Antibody Products

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

Q8N1C3

UniProtKB/Swiss-Prot:

GBRG1_HUMAN :
  • 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.
Family:
  • 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 --
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005237 inhibitory extracellular ligand-gated ion channel activity IBA --
GO:0005254 chloride channel activity IBA --
GO:0008503 contributes_to benzodiazepine receptor activity IBA --
genes like me logo Genes that share ontologies with GABRG1: view

Phenotypes for GABRG1 Gene

GenomeRNAi human phenotypes for GABRG1:
genes like me logo Genes that share phenotypes with GABRG1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRG1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GABRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006811 ion transport --
GO:0007214 gamma-aminobutyric acid signaling pathway IBA --
GO:0007268 synaptic transmission IBA --
GO:0042391 regulation of membrane potential IBA --
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

(61) Drugs for GABRG1 Gene - From: Tocris, DrugBank, DGIdb, HMDB, and IUPHAR

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 17

(4) Additional Compounds for GABRG1 Gene - From: Tocris and HMDB

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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRG1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GABRG1 Gene

GeneLoc Exon Structure for
GABRG1
ECgene alternative splicing isoforms for
GABRG1

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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia GABRG1 35
  • 93.03 (n)
  • 94.83 (a)
GABRG1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRG1 35
  • 91.95 (n)
  • 96.12 (a)
GABRG1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrg1 35
  • 88.07 (n)
  • 95.47 (a)
Gabrg1 16
Gabrg1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRG1 35
  • 99.86 (n)
  • 100 (a)
GABRG1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrg1 35
  • 87.07 (n)
  • 95.47 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRG1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRG1 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRG1 35
  • 80.92 (n)
  • 89.98 (a)
GABRG1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRG1 36
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC556202 35
  • 71.84 (n)
  • 80.47 (a)
GABRG1 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8916 36
  • 26 (a)
ManyToMany
Grd 36
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lgc-36 36
  • 24 (a)
ManyToMany
lgc-37 36
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for GABRG1 (if available)
TreeFam:
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 MAF
VAR_047056 -

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: 14.86% 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)

Relevant External Links for GABRG1 Gene

HapMap Linkage Disequilibrium report
GABRG1

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

Relevant External Links for GABRG1

Genetic Association Database (GAD)
GABRG1
Human Genome Epidemiology (HuGE) Navigator
GABRG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRG1
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 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) 23 67
  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 GABRG1 Gene

Sources for GABRG1 Gene

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