Homo sapiens Gene: CNGA1
Summary
InnateDB Gene IDBG-17103.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CNGA1
Gene Name cyclic nucleotide gated channel alpha 1
Synonyms CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa; RCNCalpha; RP49;
Species Homo sapiens
Ensembl Gene ENSG00000198515
Encoded Proteins
cyclic nucleotide gated channel alpha 1
cyclic nucleotide gated channel alpha 1
cyclic nucleotide gated channel alpha 1
cyclic nucleotide gated channel alpha 1
cyclic nucleotide gated channel alpha 1
cyclic nucleotide gated channel alpha 1
cyclic nucleotide gated channel alpha 1
cyclic nucleotide gated channel alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:47935977-48016672
Strand Reverse strand
Band p12
Transcripts
ENST00000358519 ENSP00000351320
ENST00000402813 ENSP00000384264
ENST00000420489 ENSP00000389881
ENST00000514170 ENSP00000426862
ENST00000506118
ENST00000504722 ENSP00000423721
ENST00000514520 ENSP00000421110
ENST00000513178 ENSP00000423327
ENST00000544810 ENSP00000443401
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
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0042622 photoreceptor outer segment membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Activation of the phototransduction cascade pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
The phototransduction cascade pathway
Inactivation, recovery and regulation of the phototransduction cascade pathway
Disease pathway
KEGG
Phototransduction pathway
INOH
PID BIOCARTA
PID NCI
Visual signal transduction: Rods
Cross-References
SwissProt P29973
TrEMBL A0A024R9X3 D6R978 D6RCF1
UniProt Splice Variant
Entrez Gene 1259
UniGene Hs.1323 Hs.673717
RefSeq NM_000087 NM_001142564 XM_005248049
HUGO HGNC:2148
OMIM 123825
CCDS CCDS43226 CCDS47050
HPRD
IMGT
EMBL AC096749 AC107068 AK292021 CH471069 M84741 S42457 S76062
GenPept AAA52010 AAB22778 AAD14206 AAY40919 BAF84710 EAW93048 EAW93049
RNA Seq Atlas 1259