MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP004526

UniProt Annotations

Entry Information
Gene Namedolichol kinase
Protein EntryDOLK_HUMAN
UniProt IDQ9UPQ8
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCTP + dolichol = CDP + dolichyl phosphate.
DiseaseCongenital disorder of glycosylation 1M (CDG1M) [MIM:610768]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disease with death occurring in early life. {ECO:0000269|PubMed:17273964}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors. {ECO:0000250}.
MiscellaneousComplements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.
Sequence CautionSequence=BAA83046.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the polyprenol kinase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue SpecificityUbiquitous.
  logo