Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2565
Gene name Gene Name - the full gene name approved by the HGNC.
Gamma-aminobutyric acid type A receptor subunit gamma1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GABRG1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p12
Summary Summary of gene provided in NCBI Entrez 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 ch
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004890 Function GABA-A receptor activity IBA 21873635
GO:0005237 Function Inhibitory extracellular ligand-gated ion channel activity IBA 21873635
GO:0005254 Function Chloride channel activity IBA 21873635
GO:0005515 Function Protein binding IPI 32814053
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137166 4086 ENSG00000163285
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy GenCC
Epilepsy Epilepsy GWAS
Uterine Fibroids Uterine Fibroids GWAS
Drusen Drusen GWAS
Associations from Text Mining
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