DHDDS Gene Summary [Human]
The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | DHDDS |
| Official Name | dehydrodolichyl diphosphate synthase subunit [Source:HGNC Symbol;Acc:HGNC:20603] |
| Ensembl ID | ENSG00000117682 |
| Bio databases IDs | |
| Aliases | dehydrodolichyl diphosphate synthase subunit |
| Synonyms | 3222401G21Rik, cis-IPTase, CIT, CPT, DEDSM, dehydrodolichyl diphosphate synthase, dehydrodolichyl diphosphate synthase subunit, DS, hCIT, HDS, RP59 |
| Species | Human, Homo sapiens |
| Orthologies |
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 in human DHDDS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cis (Z)-Isoprenyl Diphosphate Synthases
- prenyltransferase
- ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific]
- dehydrodolichyl diphosphate synthase
- Putative undecaprenyl diphosphate synthase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinitis pigmentosa type 59
- retinitis pigmentosa
- developmental delay and seizures with or without movement abnormalities
- hereditary disorder
- colon cancer
- retinal dystrophy
- congenital disorders of glycosylation
- congenital disorder of glycosylation type 1bb
regulates
- dolichol monophosphate
- dolichyl diphosphate
- dolichol 20
role in cell
- production in
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
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DHDDS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- polyprenol biosynthetic process
- dolichyl diphosphate biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- polyprenyltransferase activity
- dehydrodolichyl diphosphate synthase activity