Gene Gene information from NCBI Gene database.
Entrez ID 2565
Gene name Gamma-aminobutyric acid type A receptor subunit gamma1
Gene symbol GABRG1
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4p12
Summary 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 ch
miRNA miRNA information provided by mirtarbase database.
200
miRTarBase ID miRNA Experiments Reference
MIRT545161 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT545162 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT545160 hsa-miR-654-3p HITS-CLIP 21572407
MIRT545157 hsa-miR-567 HITS-CLIP 21572407
MIRT545156 hsa-let-7a-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004890 Function GABA-A receptor activity IBA
GO:0004890 Function GABA-A receptor activity IEA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005230 Function Extracellular ligand-gated monoatomic ion channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137166 4086 ENSG00000163285
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N1C3
Protein name Gamma-aminobutyric acid receptor subunit gamma-1 (GABA(A) receptor subunit gamma-1) (GABAAR subunit gamma-1)
Protein function Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 64 270 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 277 382 Neurotransmitter-gated ion-channel transmembrane region Family
Sequence
Sequence length 465
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Morphine addiction
Nicotine addiction
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Prostate cancer Uncertain significance rs193920916 RCV000149365
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Antisocial Personality Disorder Associate 31790348
Anxiety Associate 21750581
Autistic Disorder Associate 16556609, 25124326
Craniocerebral Trauma Associate 32233732
Migraine Disorders Associate 32233732
Neoplasms Adipose Tissue Associate 35051171
Nervous System Diseases Associate 25124326
Neurologic Manifestations Associate 32233732
Obesity Associate 35051171
Seizures Associate 32233732