InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDE6G

Summary

InnateDB Protein

IDBP-764627.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PDE6G

Protein Name

Synonyms

PDEG; RP57;

Species

Homo sapiens

Ensembl Protein

ENSP00000458567

InnateDB Gene

IDBG-72421 (PDE6G)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

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.

Tissue Specificity

Comments

Interactions

Number of Interactions

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]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0004857	enzyme inhibitor activity
GO:0005515	protein binding
GO:0030553	cGMP binding
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity

Biological Process

GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0008152	metabolic process
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway
GO:0043086	negative regulation of catalytic activity