CNGA1: Cyclic Nucleotide Gated Channel Subunit Alpha 1
Key regulator of phototransduction in retinal rod photoreceptors
Gene Information Card
| Symbol | CNGA1 |
|---|---|
| Full Name | Cyclic Nucleotide Gated Channel Subunit Alpha 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p12 |
| NCBI Gene ID | 1261 ncbi.nlm.nih.gov/gene/1261 |
| Ensembl ID | ENSG00000198515 |
| UniProt ID | P29973 |
| OMIM ID | 123825 |
| HGNC ID | 2149 |
| Aliases | CNG1, CNG-1, CNG1A, RCNC1, RCNCalpha |
Description
CNGA1 encodes the alpha subunit of the cyclic nucleotide-gated (CNG) channel in rod photoreceptors. This channel is critical for phototransduction: in darkness, cGMP binds to the channel keeping it open, allowing Na+ and Ca2+ influx. Light triggers a decrease in cGMP, closing the channel and hyperpolarizing the cell. Mutations in CNGA1 cause autosomal recessive retinitis pigmentosa (RP) due to loss of channel function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (RP) | Loss-of-function mutations in CNGA1 impair rod CNG channel activity, disrupting phototransduction and leading to progressive photoreceptor degeneration. | ClinVar, OMIM |
| Cone-rod dystrophy | Rare variants may affect both rod and cone function, though primarily rod-specific. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 28.5 | High |
| Testis | 1.2 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| Y79 (retinoblastoma) | 15.2 | Moderate expression |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1642C>T (p.Arg548Ter) | Nonsense | Rare | Premature truncation, loss of channel function |
| c.2002G>A (p.Gly668Arg) | Missense | Rare | Impaired cGMP binding and channel gating |
| c.1210delC (p.Leu404TrpfsTer12) | Frameshift | Rare | Loss of function, associated with RP |
Mutation functional classification
Loss of Function (LOF)
Most CNGA1 mutations are loss-of-function, leading to reduced or absent channel activity and autosomal recessive retinitis pigmentosa.
Gain of Function (GOF)
No gain-of-function mutations reported in CNGA1.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • ion channel activity (GO:0005216) | • voltage-gated potassium channel complex (GO:0008076) |
| • integral component of membrane (GO:0016021) | • phototransduction (GO:0007602) |
| • protein binding (GO:0005515) | • intracellular cyclic nucleotide activated cation channel activity (GO:0005242) |
Pathways
• Phototransduction cascade (Reactome: R-HSA-2188538)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
Protein Summary
CNGA1 is a 690-amino acid protein forming the pore-forming alpha subunit of the rod CNG channel. It contains six transmembrane domains, a cyclic nucleotide-binding domain (CNBD) in the C-terminus, and a pore loop. The channel is a heterotetramer of 3 CNGA1 and 1 CNGB1 subunits. CNGA1 binds cGMP to gate the channel, regulating cation influx in response to light.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNGA1 Knockout HEK293 Cell Line | EDJ-KQ1800 | Human | 1259 | Details Get a Quote |
| CNGA1 Knockout HCT 116 Cell Line | EDJ-KQ21654 | Human | 1259 | Details Get a Quote |
| CNGA1 Knockout HeLa Cell Line | EDJ-KQ52941 | Human | 1259 | Details Get a Quote |
| CNGA1 Knockout A-549 Cell Line | EDJ-KQ61407 | Human | 1259 | Details Get a Quote |
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