CNGA1 Gene Summary [Human]
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]
Details
| Type | Protein Coding |
| Official Symbol | CNGA1 |
| Official Name | cyclic nucleotide gated channel subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:2148] |
| Ensembl ID | ENSG00000198515 |
| Bio databases IDs | |
| Aliases | cyclic nucleotide gated channel subunit alpha 1, cGMP-gated cation channel alpha-1 |
| Synonyms | cGMP Gated Cation Channel, CNCG, CNCG1, CNG, CNG-1, CNG channel alpha 1, CNG channel α 1, Cyclic nucleotide-gated channel, cyclic nucleotide gated channel alpha 1, cyclic nucleotide gated channel subunit alpha 1, cyclic nucleotide gated channel subunit α 1, cyclic nucleotide gated channel α 1, HCN, RCNC1, RCNCa, RCNCalpha, Rcngc1, RP49 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CNGA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cyclic nucleotide-binding domain
- C-terminal leucine zipper domain of cyclic nucleotide-gated channels
- Ion transport protein
- 3',5'-cAMP binding
- intracellular cGMP activated cation channel
- intracellular cAMP activated cation channel
- protein binding
- intracellular cyclic nucleotide activated cation channel
- ion channel
- CAP_ED
- 3',5'-cGMP binding
- Cyclic nucleotide-monophosphate binding domain
Pathways
Biological processes and signaling networks where the CNGA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cold allodynia
- retinitis pigmentosa type 49
- retinitis pigmentosa
- androgenic alopecia
- autosomal recessive retinitis pigmentosa
- retinal dystrophy
- cone-rod dystrophy
- systemic lupus erythematosus
- CNGA1-related retinopathy
- right colon cancer
role in cell
- cell death
- depolarization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- cell surface
- cellular membrane
- photoreceptor outer segments
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CNGA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sodium ion transport
- calcium ion transport
- calcium ion transmembrane transport
- sodium ion transmembrane transport
- visual perception
Cellular Component
Where in the cell the gene product is active
- intracellular cyclic nucleotide activated cation channel complex
- plasma membrane
- photoreceptor outer segment membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium channel activity
- sodium channel activity
- intracellular cAMP activated cation channel activity
- cAMP binding
- cGMP binding
- intracellular cGMP activated cation channel activity