Homo sapiens Gene: CNGA1 | |||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 4:47935977-48016672 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | p12 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
Phototransduction pathway
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INOH | |||||||||||||||||||
PID NCI |
Visual signal transduction: Rods
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Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.1323 Hs.673717 | ||||||||||||||||||
RefSeq | NM_000087 NM_001142564 XM_005248049 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS43226 CCDS47050 | ||||||||||||||||||
HPRD | 00445 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||