InnateDB Protein
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IDBP-759732.3
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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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PDE6G
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Protein Name
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Synonyms
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PDEG; RP57;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000461464
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InnateDB Gene
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IDBG-72421 (PDE6G)
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Protein Structure
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Function |
Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
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Subcellular Localization |
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Disease Associations |
Retinitis pigmentosa 57 (RP57) [MIM:613582]: 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:20655036}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[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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Predicted by orthology |
Total |
1 [view]
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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 |
IPR006952
Retinal cGMP phosphodiesterase, gamma subunit
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PFAM |
PF04868
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PRINTS |
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PIRSF |
PIRSF000969
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P18545
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PhosphoSite |
PhosphoSite-P18545
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
5148
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UniGene |
Hs.654482
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RefSeq |
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HUGO |
HGNC:8789
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OMIM |
180073
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CCDS |
CCDS11783
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HPRD |
08914
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IMGT |
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EMBL |
BC106884
BX537414
CH471099
M36476
U00481
U00482
X62025
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GenPept |
AAA03653
AAA60044
AAI06885
CAA43975
CAD97656
EAW89666
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