InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDE6H

Summary

InnateDB Protein

IDBP-21401.5

Last Modified

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

Gene Symbol

PDE6H

Protein Name

phosphodiesterase 6H, cGMP-specific, cone, gamma

Synonyms

ACHM6; RCD3;

Species

Homo sapiens

Ensembl Protein

ENSP00000266395

InnateDB Gene

IDBG-21399 (PDE6H)

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

Cone dystrophy, retinal 3A (RCD3A) [MIM:610024]: A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. {ECO:0000269PubMed:15629837}. 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 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

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

Biological Process

GO:0000187	activation of MAPK activity
GO:0007601	visual perception
GO:0008152	metabolic process
GO:0043086	negative regulation of catalytic activity
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway
GO:0045745	positive regulation of G-protein coupled receptor protein signaling pathway
GO:0050896	response to stimulus