InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CNGA1

Summary

InnateDB Protein

IDBP-17105.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CNGA1

Protein Name

cyclic nucleotide gated channel alpha 1

Synonyms

CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa; RCNCalpha; RP49;

Species

Homo sapiens

Ensembl Protein

ENSP00000351320

InnateDB Gene

IDBG-17103 (CNGA1)

Protein Structure

UniProt Annotation

Function

Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Retinitis pigmentosa 49 (RP49) [MIM:613756]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:15570217, ECO:0000269PubMed:7479749}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Rod cells in the retina.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005222	intracellular cAMP activated cation channel activity
GO:0005223	intracellular cGMP activated cation channel activity
GO:0005249	voltage-gated potassium channel activity
GO:0005515	protein binding
GO:0030553	cGMP binding

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway
GO:0042391	regulation of membrane potential
GO:0055085	transmembrane transport
GO:0071805	potassium ion transmembrane transport