PDE6D

PDE6D is the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants.

Full Name

phosphodiesterase 6D, cGMP-specific, rod, delta

Function

Promotes the release of prenylated target proteins from cellular membranes (PubMed:9712853).
Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location (PubMed:22002721, PubMed:23698361).
Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E (PubMed:24166846).
Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity).
Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide dissociation rate (By similarity).

Biological Process

Response to stimulusIEA:UniProtKB-KW
Visual perceptionManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Cytoplasm, cytosol
Cytoplasmic vesicle membrane
Cytoplasm, cytoskeleton, cilium basal body

Involvement in disease

Joubert syndrome 22 (JBTS22):
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.