InnateDB Protein
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IDBP-585490.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CNGA1
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Protein Name
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cyclic nucleotide gated channel alpha 1
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Synonyms
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CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa; RCNCalpha; RP49;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000443401
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InnateDB Gene
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IDBG-17103 (CNGA1)
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Protein Structure
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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.
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Subcellular Localization |
Membrane; Multi-pass membrane protein.
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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.
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Tissue Specificity |
Rod cells in the retina.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000595
Cyclic nucleotide-binding domain
IPR005821
Ion transport domain
IPR018490
Cyclic nucleotide-binding-like
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PFAM |
PF00027
PF00520
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PRINTS |
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PIRSF |
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SMART |
SM00100
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TIGRFAMs |
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Modification |
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SwissProt |
P29973
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PhosphoSite |
PhosphoSite-P29973
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TrEMBL |
D6RCF1
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UniProt Splice Variant |
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Entrez Gene |
1259
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UniGene |
Hs.673717
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RefSeq |
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HUGO |
HGNC:2148
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OMIM |
123825
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CCDS |
CCDS47050
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HPRD |
00445
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IMGT |
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EMBL |
AC096749
AC107068
AK292021
CH471069
M84741
S42457
S76062
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GenPept |
AAA52010
AAB22778
AAD14206
AAY40919
BAF84710
EAW93048
EAW93049
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