GNGT1 Gene - Guanine Nucleotide Binding Protein G(T) Subunit Gamma 1
Key component of the retinal transducin complex involved in phototransduction
Gene Information Card
| Symbol | GNGT1 |
|---|---|
| Full Name | G protein subunit gamma transducin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q35 |
| NCBI Gene ID | 2792 ncbi.nlm.nih.gov/gene/2792 |
| Ensembl ID | ENSG00000127928 |
| UniProt ID | P63211 |
| OMIM ID | 189970 |
| HGNC ID | 4414 |
| Aliases | GNGT, GNG-1, G(t)gamma |
Description
GNGT1 encodes the gamma subunit of the retinal G-protein transducin, which is essential for phototransduction in rod photoreceptor cells. The gamma subunit forms a heterotrimeric complex with the alpha and beta subunits of transducin, mediating signal transduction from rhodopsin to cGMP phosphodiesterase. Mutations in GNGT1 are associated with congenital stationary night blindness and other retinal dystrophies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital stationary night blindness (CSNB) | Loss-of-function mutations impair transducin signaling, disrupting phototransduction in rods | ClinVar, OMIM |
| Retinitis pigmentosa | Potential involvement via defective G-protein signaling in photoreceptors | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Testis | Low | GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Retinal pigment epithelium (RPE) | Not expressed | GTEx |
| Rod photoreceptors | High | Literature |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.35G>A (p.Arg12His) | Missense | Rare | Impaired transducin activation |
| c.82C>T (p.Arg28*) | Nonsense | Rare | Loss of function, associated with CSNB |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt transducin gamma subunit folding or interaction with beta subunit, leading to impaired phototransduction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • phototransduction |
| • signal transducer activity | • GTPase activity |
| • heterotrimeric G-protein complex |
Pathways
• Phototransduction cascade (KEGG: hsa04744)
• G alpha (i) signaling events (Reactome: R-HSA-418594)
Protein Summary
The gamma subunit of transducin (GNGT1) is a small, membrane-anchored protein that forms a stable heterodimer with the beta subunit. This beta-gamma complex is required for proper G-protein coupling to rhodopsin and for signal termination. The protein is highly expressed in rod photoreceptors and is critical for visual adaptation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNGT1 Knockout HEK293 Cell Line | EDJ-KQ50308 | Human | 2792 | Details Get a Quote |
| GNGT1 Knockout HeLa Cell Line | EDJ-KQ53372 | Human | 2792 | Details Get a Quote |
| GNGT1 Knockout A-549 Cell Line | EDJ-KQ61848 | Human | 2792 | Details Get a Quote |
| GNGT1 Knockout HCT 116 Cell Line | EDJ-KQ70333 | Human | 2792 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
