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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:0060585 | Noonan syndrome 7 | |
| DOID:0060586 | Noonan syndrome 8 | |
| DOID:0060587 | Noonan syndrome 9 | |
| DOID:0060588 | Noonan syndrome 10 | |
| DOID:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
| DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
| DOID:0060764 | autosomal recessive Robinow syndrome | |
| DOID:0060765 | autosomal dominant Robinow syndrome 2 | |
| DOID:0060766 | autosomal dominant Robinow syndrome 1 | |
| DOID:0060767 | autosomal dominant Robinow syndrome 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000501 | Glaucoma |
| HP:0000504 | Abnormality of vision |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000543 | Optic disc pallor |
| HP:0000546 | Retinal degeneration |
| 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 |
|---|---|---|---|
| 100675778 | LOXAF09035 | ||
| 100524683 | PIGXX29369 | ||
| 523264 | BOVIN25121 | ||
| 102169144 | CAPHI20007 | ||
| 101110654 | SHEEP09972 | ||
| 106000289 | DIPOR06020 | ||
| 100767025 | CRIGR19685 | ||
| 67422 | MGI:1914672 | MOUSE40641 | |
| 298541 | RGD:1311560 | RATNO32559 | |
| 100729457 | CAVPO11900 |
