EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.7.1.108 | CTP + dolichol | Homo sapiens | - |
CDP + dolichyl phosphate | - |
? | |
2.7.1.108 | additional information | Homo sapiens | the chain length of eukaryotic dolichol molecules is species specific and differs from 14-17 isoprene units in unicellular organisms like the yeasts Saccharomyces cerevisiae and Schizosaccharomyces pombe, mammalian cells produce longer dolichol molecules with 18-21 isoprene units | ? | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
2.7.1.108 | Homo sapiens | - |
- |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
2.7.1.108 | fibroblast | dermal | Homo sapiens | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.7.1.108 | CTP + dolichol | - |
Homo sapiens | CDP + dolichyl phosphate | - |
? | |
2.7.1.108 | additional information | the chain length of eukaryotic dolichol molecules is species specific and differs from 14-17 isoprene units in unicellular organisms like the yeasts Saccharomyces cerevisiae and Schizosaccharomyces pombe, mammalian cells produce longer dolichol molecules with 18-21 isoprene units | Homo sapiens | ? | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
2.7.1.108 | DK1 | - |
Homo sapiens |
2.7.1.108 | dolichol kinase | - |
Homo sapiens |
2.7.1.108 | dolichol-specific kinase | - |
Homo sapiens |
EC Number | General Information | Comment | Organism |
---|---|---|---|
2.7.1.108 | malfunction | a deficiency of dolichol kinase, catalyzing the final step of dolichol phosphate synthesis is the first defect of the dolichyl phosphate pathway known to cause a severe hypoglycosylation phenotype in humans, length, weight and head circumference are normal at birth but secondary microcephaly, developing in the first month of life is a common finding in all patients | Homo sapiens |
2.7.1.108 | malfunction | identifikation of 4 patients who are homozygous for one of 2 mutations (C99S and Y441S) in the corresponding hDK1 gene, the residual activity of mutant is 2-4% when compared with control cells, the mutated alleles fail to complement the temperature-sensitive phenotype of dolichol kinase-deficient yeast cells, whereas the wild-type allele restores the normal growth phenotype, affected patients present with a very severe clinical phenotype, with death in early infancy, 2 of the patients died from dilative cardiomyopathy | Homo sapiens |
2.7.1.108 | metabolism | dolichol metabolim, the enzymatic product dolichyl phosphate is a lipid carrier embedded in the endoplasmic reticulum membrane essential for the synthesis of N-glycans, GPI-anchors and protein C- and O-mannosylation | Homo sapiens |