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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| polyprenol biosynthetic process | ||
| dolichyl diphosphate biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane | ||
| dehydrodolichyl diphosphate synthase complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| dehydrodolichyl diphosphate synthase activity | ||
| metal ion binding | ||
| protein binding | ||
| polyprenyltransferase activity |
GO Hierarchy
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:332 | amyotrophic lateral sclerosis | |
| DOID:3347 | osteosarcoma | |
| DOID:3376 | bone osteosarcoma | |
| DOID:3459 | breast carcinoma | |
| DOID:3490 | Noonan syndrome | |
| DOID:3535 | Unverricht-Lundborg syndrome | |
| DOID:3571 | liver cancer | |
| DOID:3620 | central nervous system cancer | |
| DOID:3649 | pyruvate decarboxylase deficiency | |
| DOID:3651 | pyruvate carboxylase deficiency disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007843 | Attenuation of retinal blood vessels |
| HP:0007994 | Peripheral visual field loss |
| HP:0008046 | Abnormal retinal vascular morphology |
| HP:0008936 | Axial hypotonia |
| HP:0010844 | EEG with multifocal slow activity |
| HP:0011150 | Myoclonic absence seizure |
| HP:0011443 | Abnormality of coordination |
| HP:0011505 | Cystoid macular edema |
| HP:0011968 | Feeding difficulties |
| HP:0012444 | Brain atrophy |
| Disease ID | Disease Name |
|---|---|
| OMIM:617836 |
|
| ORPHA:442835 |
|
| ORPHA:791 |
|
| OMIM:613861 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101584612 | OCTDE21397 | ||
| 101711794 | HETGA09680 | ||
| 100012356 | MONDO22659 | ||
| 102444519 | PELSI05384 | ||
| 100552810 | ANOCA13621 | ||
| 103666770 | URSMA05960 | ||
| 114045098 | VOMUR28083 | ||
| 113878495 | BOBOX38513 | ||
| 105863487 | MICMU03783 | ||
| 101067613 | TAKRU46769 |
