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MIRAGE
dehydrodolichyl diphosphate synthase subunit
Summary
- Gene Symbol
-
- DHDDS
- Aliases
-
- DS
- FLJ13102
- HDS
- RP59
- hCIT
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Disease variant
- Endoplasmic reticulum
- Epilepsy
- Intellectual disability
- Lipid metabolism
- Magnesium
- Membrane
- Metal-binding
- Reference proteome
- Retinitis pigmentosa
- Transferase
- Proteins
| UniProt | Protein Name |
|---|---|
| Q86SQ9 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| dolichyl diphosphate biosynthetic process | ||
| polyprenol biosynthetic process | ||
| dolichol biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| dehydrodolichyl diphosphate synthase complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| prenyltransferase activity | ||
| protein binding | ||
| dehydrodolichyl diphosphate synthase activity | ||
| dehydrodolichyl diphosphate synthase activity | ||
| metal ion binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- diphosphate synthase
- Functional Category
-
- C: Energy production and conversion
- I: Lipid transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| dehydrodolichyl diphosphate synthase activity |
| dolichol biosynthetic process |
| polyprenyltransferase activity |
| transferase activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080473 | developmental delay and seizures with or without movement abnormalities | |
| DOID:0110352 | retinitis pigmentosa 59 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000035 | Abnormal testis morphology |
| HP:0000054 | Micropenis |
| HP:0000083 | Renal insufficiency |
| HP:0000135 | Hypogonadism |
| HP:0000252 | Microcephaly |
| HP:0000348 | High forehead |
| HP:0000405 | Conductive hearing impairment |
| Disease ID | Disease Name |
|---|---|
| OMIM:617836 |
|
| OMIM:613861 |
|
| ORPHA:791 |
|
| ORPHA:442835 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 67422 | MOUSE40641 | ||
| 79947 | Xenbase:XB-GENE-1002142 | ||
| 298541 | RATNO32559 | ||
| 406468 | DANRE10769 | ||
| 456662 | PANTR20337 | ||
| 523264 | BOVIN25121 | ||
| 612157 | CANLF06984 | ||
| 714635 | MACMU25214 | ||
| 100012356 | MONDO22659 | ||
| 100171948 | PONAB18981 |
