CNGA1

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]

Description

Cyclic nucleotide gated channel subunit alpha 1

Tissue specificity

Tissue enriched (retina)

Subcell location

Nucleoplasm, Vesicles, Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Chromosome

4 (47935977 - 48016681)

Ensembl ID

ENSG00000198515  (ver. 103.38)

Orthologs

Mouse Cnga1: ENSMUSG00000067220

UniProt

P29973

neXtProt

NX_P29973

Human splice variants
Mouse splice variants

Protein structure