Homo sapiens Protein: PDE6C | |||||||||||||
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Summary | |||||||||||||
InnateDB Protein | IDBP-82910.4 | ||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||
Gene Symbol | PDE6C | ||||||||||||
Protein Name | phosphodiesterase 6C, cGMP-specific, cone, alpha prime | ||||||||||||
Synonyms | ACHM5; COD4; PDEA2; | ||||||||||||
Species | Homo sapiens | ||||||||||||
Ensembl Protein | ENSP00000360502 | ||||||||||||
InnateDB Gene | IDBG-82906 (PDE6C) | ||||||||||||
Protein Structure | |||||||||||||
UniProt Annotation | |||||||||||||
Function | |||||||||||||
Subcellular Localization | Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. | ||||||||||||
Disease Associations | Cone dystrophy 4 (COD4) [MIM:613093]: An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269PubMed:19615668}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||
Tissue Specificity | |||||||||||||
Comments | |||||||||||||
Interactions | |||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 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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Protein Structure and Domains | |||||||||||||
PDB ID | |||||||||||||
InterPro |
IPR002073
3\'5\'-cyclic nucleotide phosphodiesterase, catalytic domain IPR003018 GAF domain IPR003607 HD/PDEase domain IPR023088 3\'5\'-cyclic nucleotide phosphodiesterase IPR029016 GAF domain-like |
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PFAM |
PF00233
PF01590 PF13185 PF13492 |
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PRINTS |
PR00387
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PIRSF | |||||||||||||
SMART |
SM00065
SM00471 |
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TIGRFAMs | |||||||||||||
Post-translational Modifications | |||||||||||||
Modification | |||||||||||||
Cross-References | |||||||||||||
SwissProt | P51160 | ||||||||||||
PhosphoSite | PhosphoSite-P51160 | ||||||||||||
TrEMBL | |||||||||||||
UniProt Splice Variant | |||||||||||||
Entrez Gene | 5146 | ||||||||||||
UniGene | Hs.658121 | ||||||||||||
RefSeq | NP_006195 | ||||||||||||
HUGO | HGNC:8787 | ||||||||||||
OMIM | 600827 | ||||||||||||
CCDS | CCDS7429 | ||||||||||||
HPRD | 02898 | ||||||||||||
IMGT | |||||||||||||
EMBL | AL157396 AL356214 CH471066 U20196 U20197 U20199 U20200 U20201 U20202 U20203 U20204 U20205 U20206 U20207 U20208 U20209 U20210 U20211 U20212 U31973 X94354 | ||||||||||||
GenPept | AAA92886 AAA96392 CAA64079 CAH72330 CAH73839 EAW50064 | ||||||||||||