DHDDS
Summary: 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].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:608172 Ensembl IDEnsembl:ENSG00000117682 HGNC IDHGNC:HGNC:20603 PHARMGKB IDPA134867119 Map Location1p36.11 | |||||
GO terms in DHDDS
Loading, please wait...
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| BP | IEA | GO:0006486 | protein glycosylation |
| BP | IBA | GO:0016094 | polyprenol biosynthetic process |
| MF | IBA | GO:0002094 | polyprenyltransferase activity |
| MF | IDA | GO:0002094 | polyprenyltransferase activity |
Gene expression in normal tissue: DHDDS
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DHDDS
Loading, please wait...
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00900 | Terpenoid backbone biosynthesis - Homo sapiens (human) |
| humancyc | PWY-6129 | dolichol and dolichyl phosphate biosynthesis |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-446193 | Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DHDDS
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.