GABRR1
Gamma-Aminobutyric Acid Type A Receptor Subunit Rho1
Gene Information Card
| Symbol | GABRR1 |
|---|---|
| Full Name | Gamma-aminobutyric acid type A receptor subunit rho1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 2569 ncbi.nlm.nih.gov/gene/2569 |
| Ensembl ID | ENSG00000146276 |
| UniProt ID | P24046 |
| OMIM ID | 137161 |
| HGNC ID | 4088 |
| Aliases | GABA(A) receptor subunit rho1, GABRR1, MGC138900 |
Description
GABRR1 encodes the rho1 subunit of the gamma-aminobutyric acid type A (GABA-A) receptor, a pentameric ligand-gated chloride channel. This subunit forms homomeric or heteromeric receptors that mediate fast inhibitory neurotransmission. GABRR1 is predominantly expressed in the retina and is involved in visual processing. Mutations in GABRR1 have been associated with inherited retinal dystrophies and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Loss-of-function variants impair GABAergic signaling in retinal neurons, leading to photoreceptor degeneration. | ClinVar, OMIM |
| Autosomal recessive cone-rod dystrophy | Disrupted chloride conductance alters synaptic transmission in cone and rod pathways. | ClinVar, OMIM |
| Epilepsy | Altered inhibitory neurotransmission may contribute to seizure susceptibility. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Brain | Low | Broad |
| Spinal cord | Low | Broad |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | High | Retinal pigment epithelium |
| SH-SY5Y | Low | Neuroblastoma |
| HEK293 | Not detected | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.805C>T (p.Arg269*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.124G>A (p.Gly42Arg) | Missense | Rare | Impaired receptor function; linked to cone-rod dystrophy |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to truncated or absent protein, reducing GABA-A receptor activity.
Gain of Function (GOF)
Not reported for GABRR1.
Dominant Negative (DN)
Not reported for GABRR1.
View complete mutation data：
Gene Ontology (GO)
| • GABA-A receptor activity | • chloride channel activity |
| • extracellular ligand-gated ion channel activity | • ionotropic glutamate receptor activity |
| • plasma membrane | • synapse |
| • postsynaptic membrane | • chemical synaptic transmission |
| • chloride transmembrane transport | • nervous system development |
Pathways
• GABAergic synapse
• Neuroactive ligand-receptor interaction
• Chloride channel complex
Protein Summary
The GABRR1 protein (rho1 subunit) is a 458-amino acid transmembrane protein that assembles into homopentameric GABA-A receptors. These receptors are selectively activated by GABA and blocked by picrotoxin. The rho1 subunit confers unique pharmacological properties, including insensitivity to barbiturates and benzodiazepines. It is essential for fast inhibitory neurotransmission in the retina.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRR1 Knockout HEK293 Cell Line | EDJ-KQ4660 | Human | 2569 | Details Get a Quote |
| GABRR1 Knockout HeLa Cell Line | EDJ-KQ53299 | Human | 2569 | Details Get a Quote |
| GABRR1 Knockout A-549 Cell Line | EDJ-KQ61781 | Human | 2569 | Details Get a Quote |
| GABRR1 Knockout HCT 116 Cell Line | EDJ-KQ70263 | Human | 2569 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
