DOLK

The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency. [provided by RefSeq, Apr 2010]

Description

dolichol kinase

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted membrane proteins, Protein evidence (Peptideatlas)

Chromosome

9:q34.11 (128945530 - 128947603)

Ensembl ID

ENSG00000175283  (ver. 99.38)

Orthologs

Mouse Dolk: ENSMUSG00000075419

UniProt

Q9UPQ8

neXtProt

NX_Q9UPQ8

Human splice variants
Mouse splice variants