This gene encodes 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. [provided by RefSeq, Mar 2014]
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.
Tissue Specificity:
Retina.
Similarity:
Belongs to the PDE6D/unc-119 family.
SWISS:
O43924
Gene ID:
5147
Database links:
Entrez Gene: 281976 Cow
Entrez Gene: 403781 Dog
Entrez Gene: 5147 Human
Entrez Gene: 18582 Mouse
Entrez Gene: 363272 Rat
Omim: 602676 Human
SwissProt: Q95142 Cow
SwissProt: Q9XT54 Dog
SwissProt: O43924 Human
SwissProt: O55057 Mouse
Unigene: 53368 Human
Unigene: 12925 Mouse
Unigene: 44816 Rat
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