Reactome | DOLK phosphorylates DCHOL to DOLP

DOLK phosphorylates DCHOL to DOLP

Stable Identifier

R-HSA-446195

Type

Reaction [transition]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

ReviewStatus

5/5

Locations in the PathwayBrowser

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Metabolism of proteins (Homo sapiens)

- Post-translational protein modification (Homo sapiens)
  - Asparagine N-linked glycosylation (Homo sapiens)
    - Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein (Homo sapiens)
      - Synthesis of substrates in N-glycan biosythesis (Homo sapiens)
        
        Synthesis of Dolichyl-phosphate (Homo sapiens)
        
        DOLK phosphorylates DCHOL to DOLP (Homo sapiens)

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Dolichol kinase (DOLK, TMEM15) mediates the phosphorylation of dolichol (DCHOL) to form dolichyl phosphate (DOLP) in the ER membrane (Fernandez et al. 2002). Defects in DOLK cause congenital disorder of glycosylation type 1M (CDG1M aka dolichol kinase deficiency; MIM:610768), a severe multisystem disorder characterised by under-glycosylated serum glycoproteins which results in nervous system under-development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. Death occurs in early life (Kranz et al. 2007).

Literature References

PubMed ID	Title	Journal	Year
17273964	A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy Denecke, J, Jungeblut, C, Grobe, H, Debus, V, Reichel, S, Hammersen, G, Kranz, C, Reith, A, Erlekotte, A, Schwarzer, U, Harms, E, Kehl, HG, Marquardt, T, Sohlbach, C	Am J Hum Genet	2007
12213788	Expression and characterization of a human cDNA that complements the temperature-sensitive defect in dolichol kinase activity in the yeast sec59-1 mutant: the enzymatic phosphorylation of dolichol and diacylglycerol are catalyzed by separate CTP-mediated kinase activities in Saccharomyces cerevisiae Shridas, P, Fernandez, F, Jiang, S, Waechter, CJ, Aebi, M	Glycobiology	2002