PDE6D Gene Summary
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]
Details
| Type | Protein Coding |
| Official Symbol | PDE6D |
| Official Name | phosphodiesterase 6D [Source:HGNC Symbol;Acc:HGNC:8788] |
| Ensembl ID | ENSG00000156973 |
| Bio databases IDs | |
| Aliases | phosphodiesterase 6D, retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta |
| Synonyms | JBTS22,PDED,Pde delta,Pde δ,phosphodiesterase 6D,phosphodiesterase 6D, cGMP-specific, rod, delta,phosphodiesterase 6D, cGMP-specific, rod, δ,PrBPdelta,PrBP/delta,PrBP/δ |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GMP-PDE, delta subunit
- GTPase inhibitor
- 3',5'-cyclic-GMP phosphodiesterase
- enzyme binding
- farnesyl-binding pocket
- enzyme
- protein binding
Pathways
Biological processes and signaling networks where the PDE6D gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- coronary artery disease
- Joubert syndrome type 22
role in cell
- abnormal morphology
- number
- trapping in
- signaling in
- solubilization in
- diffusion in
- electrophysiology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- cilia
- cytosol
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the PDE6D gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- visual perception
cellular COMPONENT
Where in the cell the gene product is active
- cytoplasmic vesicle membrane
- cytoskeleton
- cytoplasm
- cilium
- cytoplasmic vesicle
- cytosol
molecular FUNCTION
What the gene product does at the molecular level
- protein binding
- GTPase inhibitor activity
- small GTPase binding