Search results for DOLK

Showing 10 results out of 10

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Protein (6 results from a total of 6)

Identifier: R-HSA-449274
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: DOLK: Q9UPQ8
Identifier: R-HSA-4755593
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: DOLK: Q9UPQ8
Identifier: R-HSA-4755548
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9UPQ8
Identifier: R-HSA-4755602
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9UPQ8
Identifier: R-HSA-4755557
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9UPQ8
Identifier: R-HSA-4755590
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9UPQ8

Set (1 results from a total of 1)

Identifier: R-HSA-4755544
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane

Reaction (2 results from a total of 2)

Identifier: R-HSA-446195
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
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).
Identifier: R-HSA-4755600
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, cytosol
Dolichol kinase (DOLK, TMEM15) normally mediates the phosphorylation of a dolichol (DCHOL) residue to form dolichyl phosphate (DOLP) in the ER membrane (Fernandez et al. 2002). DOLP is an important substrate in the synthesis of N- and O-glycosylated proteins and GPI anchors. Defects in DOLK cause congenital disorder of glycosylation type 1m (DOLK-CDG, CDG1m, also known as dolichol kinase deficiency; MIM:610768), a severe multisystem disorder characterised by under-glycosylated serum glycoproteins. This disorder has a very severe phenotype and death can occur in early life (Kranz et al. 2007). Mutations that can cause DOLK-CDG are C99S, Y441S, H408D, W304C and M1I (Kranz et al. 2007, Lefeber et al. 2011).

Pathway (1 results from a total of 1)

Identifier: R-HSA-4755583
Species: Homo sapiens
Dolichol kinase (DOLK, TMEM15) normally mediates the phosphorylation of dolichol (DCHOL) to form dolichyl phosphate (DOLP) in the ER membrane (Fernandez et al. 2002). DOLP is an important substrate in the synthesis of N- and O-glycosylated proteins and GPI anchors. Defects in DOLK cause congenital disorder of glycosylation type 1m (DOLK-CDG, CDG1m, also known as dolichol kinase deficiency; MIM:610768), a severe mutisystem disorder characterised by under-glycosylated serum glycoproteins. This disorder has a very severe phenotype and death can occur in early life (Kranz et al. 2007).
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