DOLK phosphorylates DCHOL to DOLP

Stable Identifier
Reaction [transition]
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
Catalyst Activity

dolichol kinase activity of DOLK [endoplasmic reticulum membrane]

Orthologous Events
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