InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDE6D

Summary

InnateDB Protein

IDBP-83152.6

Last Modified

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

Gene Symbol

PDE6D

Protein Name

phosphodiesterase 6D, cGMP-specific, rod, delta

Synonyms

JBTS22; PDED;

Species

Homo sapiens

Ensembl Protein

ENSP00000287600

InnateDB Gene

IDBG-83150 (PDE6D)

Protein Structure

UniProt Annotation

Function

Acts as a GTP specific dissociation inhibitor (GDI). Increases the affinity of ARL3 for GTP by several orders of magnitude and does so by decreasing the nucleotide dissociation rate. Stabilizes ARL3-GTP by decreasing the nucleotide dissociation (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000269PubMed:9712853}. Cytoplasmic vesicle membrane {ECO:0000269PubMed:9712853}; Peripheral membrane protein {ECO:0000269PubMed:9712853}.

Disease Associations

Joubert syndrome 22 (JBTS22) [MIM:615665]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. {ECO:0000269PubMed:24166846}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Detected in various tissues including spleen, prostate gland, testis, ovary, small intestine, colon, retina, and peripheral blood. {ECO:0000269PubMed:9712853}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	37 [view]
Protein-Protein	31 [view]
Protein-DNA	6 [view]
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:0005095	GTPase inhibitor activity
GO:0005515	protein binding
GO:0017137	Rab GTPase binding

Biological Process

GO:0007601	visual perception
GO:0008152	metabolic process
GO:0033124	regulation of GTP catabolic process
GO:0043086	negative regulation of catalytic activity
GO:0050896	response to stimulus

Cellular Component

GO:0005829	cytosol
GO:0030659	cytoplasmic vesicle membrane
GO:0031410	cytoplasmic vesicle

Protein Structure and Domains

PDB ID

InterPro

IPR008015 GMP phosphodiesterase, delta subunit
IPR014756 Immunoglobulin E-set
IPR017287 Retinal rod rhodopsin-sensitive cGMP 3\', 5\'-cyclic phosphodiesterase, delta subunit

PFAM

PF05351

PRINTS

PIRSF

PIRSF037825

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O43924