InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDE6C

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.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005515	protein binding
GO:0030553	cGMP binding
GO:0046872	metal ion binding
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity

Biological Process

GO:0007165	signal transduction
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0008152	metabolic process
GO:0046549	retinal cone cell development
GO:0050953	sensory perception of light stimulus

Cellular Component

GO:0005886

plasma membrane

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

PFAM

PF00233
PF01590
PF13185
PF13492

PRINTS

PR00387

PIRSF

SMART

SM00065
SM00471

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt