GABRG1
Gamma-aminobutyric acid type A receptor subunit gamma1
Gene Information Card
| Symbol | GABRG1 |
|---|---|
| Full Name | gamma-aminobutyric acid type A receptor subunit gamma1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p12 |
| NCBI Gene ID | 2565 ncbi.nlm.nih.gov/gene/2565 |
| Ensembl ID | ENSG00000163221 |
| UniProt ID | Q8N1C3 |
| OMIM ID | 137166 |
| HGNC ID | 4083 |
| Aliases | GABRG1, GABA(A) receptor subunit gamma-1 |
Description
GABRG1 encodes the gamma1 subunit of the gamma-aminobutyric acid type A (GABA-A) receptor, a pentameric ligand-gated chloride channel that mediates fast inhibitory neurotransmission in the central nervous system. The gamma1 subunit is predominantly expressed in the brain and is involved in receptor assembly, benzodiazepine sensitivity, and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered GABA-A receptor function due to GABRG1 variants may reduce inhibitory neurotransmission, increasing seizure susceptibility. | ClinVar: pathogenic missense variants reported. |
| Schizophrenia | Dysregulation of GABAergic signaling involving GABRG1 has been implicated in schizophrenia pathophysiology. | NCBI Gene: association studies. |
| Alcohol dependence | Variants in GABRG1 have been linked to alcohol dependence, possibly via altered receptor sensitivity to ethanol. | OMIM: genetic association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Brain (hippocampus) | 15.2 | Medium |
| Testis | 1.2 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.8 | Moderate expression |
| U-87 MG (glioblastoma) | 3.2 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.01% | Likely pathogenic; altered receptor function |
| c.245C>T (p.Thr82Met) | Missense | <0.01% | Uncertain significance |
| c.1120A>G (p.Asn374Asp) | Missense | <0.01% | Benign |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in GABRG1 reduce chloride ion conductance, leading to decreased inhibitory neurotransmission.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented for GABRG1.
Dominant Negative (DN)
Dominant-negative effects may occur if mutant subunits disrupt pentameric receptor assembly.
View complete mutation data：
Gene Ontology (GO)
| • GABA-A receptor activity | • chloride channel activity |
| • extracellular ligand-gated ion channel activity | • ionotropic glutamate receptor binding |
| • plasma membrane | • synapse |
| • neuronal cell body | • chemical synaptic transmission |
| • regulation of membrane potential | • nervous system development |
Pathways
• GABAergic synapse (KEGG: hsa04727)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• Nicotine addiction (KEGG: hsa05033)
Protein Summary
The gamma1 subunit of the GABA-A receptor is a 467-amino acid protein with four transmembrane domains, a large extracellular N-terminal domain, and an intracellular loop. It assembles with alpha and beta subunits to form functional pentameric chloride channels. The gamma1 subunit confers benzodiazepine sensitivity and is critical for receptor trafficking and synaptic localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRG1 Knockout HEK293 Cell Line | EDJ-KQ4658 | Human | 2565 | Details Get a Quote |
| GABRG1 Knockout HeLa Cell Line | EDJ-KQ53296 | Human | 2565 | Details Get a Quote |
| GABRG1 Knockout A-549 Cell Line | EDJ-KQ61777 | Human | 2565 | Details Get a Quote |
| GABRG1 Knockout HCT 116 Cell Line | EDJ-KQ70260 | Human | 2565 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
