CNGA1
cyclic nucleotide gated channel subunit alpha 1
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000198515
- UniProt:
- P29973
- OMIM:
- 123825
- Synonyms:
- CNCG, CNCG1, CNG1, RCNC1, RCNCA, RP49
Ciliogenesis screen results (4 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.84) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.62) PMID:41160700
Phenotypes
- Mouse phenotype:
- decreased total reti thickness, abnormal reti outer nuclear layer morphology
- Human ciliopathy phenotype:
- retinitis pigmentosa; retinitis pigmentosa 49
Subcellular localization
cilia, ciliary tip
References: PMID:41005307, PMID:25319694
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
- Ciliary membrane
Function
Subunit of the cyclic nucleotide-gated (Cng) channel localised to the outer segment. Mutations in Cnga1 which have been associated with retinitis pigmentosa in humans (25319694)