Dolichol kinase
| dolichol kinase | |||||||||
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| Identifiers | |||||||||
ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
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| DOLK | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 9: 128.95 – 128.95 Mb | Chr 2: 30.17 – 30.18 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
In
- CTP + dolichol CDP + dolichyl phosphate
Thus, the two
This enzyme belongs to the family of transferases, to be specific, those transferring phosphorus-containing groups (phosphotransferases) with an alcohol group as acceptor. The systematic name of this enzyme class is CTP:dolichol O-phosphotransferase. This enzyme is also called dolichol phosphokinase. This enzyme participates in N-glycan biosynthesis.
In humans dolichol kinase is encoded by the DOLK gene.[5][6][7]
Function
Dolichyl monophosphate is an essential glycosyl carrier lipid for C- and O-mannosylation and N-glycosylation of proteins and for biosynthesis of glycosylphosphatidylinositol anchors in endoplasmic reticulum (ER). Dolichol kinase catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate biosynthesis.[8]
Clinical significance
Mutations in DOLK cause a subtype of the
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000175283 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000075419 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 12975309.
- PMID 16923818.
- ^ "Entrez Gene: DOLK dolichol kinase".
- PMID 12213788.
- PMID 17273964.
Further reading
- Burton WA, Scher MG, Waechter CJ (1979). "Enzymatic phosphorylation of dolichol in central nervous tissue". J. Biol. Chem. 254 (15): 7129–36. PMID 457672.
- Rip JW, Carroll KK (1980). "Properties of a dolichol phosphokinase activity associated with rat liver microsomes". Can. J. Biochem. 58 (10): 1051–6. PMID 6257336.
- Kranz C, Jungeblut C, Denecke J, et al. (2007). "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy". Am. J. Hum. Genet. 80 (3): 433–40. PMID 17273964.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. PMID 15164053.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Kikuno R, Nagase T, Ishikawa K, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (3): 197–205. PMID 10470851.
External links
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