Dolichol_kinase Knowpia

DOLK
Identifiers
Aliases	DOLK, CDG1M, DK, DK1, SEC59, TMEM15, dolichol kinase
External IDs	OMIM: 610746 MGI: 2677836 HomoloGene: 8940 GeneCards: DOLK
Gene location (Human)
Chr.	Chromosome 9 (human)
End	128,947,603 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	30,176,346 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; left adrenal gland; ; islet of Langerhans; ; parotid gland; ; body of stomach; ; secondary oocyte; ; kidney tubule; ; middle temporal gyrus; ; metanephros; ; epithelium of esophagus;
	Top expressed in
	interventricular septum; ; brown adipose tissue; ; external carotid artery; ; internal carotid artery; ; white adipose tissue; ; vastus lateralis muscle; ; intercostal muscle; ; subcutaneous adipose tissue; ; motor neuron; ; right ventricle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; protein binding; kinase activity; dolichol kinase activity;
Cellular component	integral component of membrane; integral component of endoplasmic reticulum membrane; endoplasmic reticulum membrane; endoplasmic reticulum; membrane;
Biological process	dolichyl diphosphate biosynthetic process; phosphorylation; protein glycosylation; dolichyl monophosphate biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	22845
	227697
	ENSG00000175283
	ENSMUSG00000075419
	Q9UPQ8
	Q8R2Y3
	NM_014908
	NM_177648
	NP_055723
	NP_808316
	Wikidata
View/Edit Human	View/Edit Mouse

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dolichol kinase
dolichol kinase
Identifiers
EC no.	2.7.1.108
CAS no.	71768-07-5
Databases
IntEnz	IntEnz view
BRENDA	BRENDA entry
ExPASy	NiceZyme view
KEGG	KEGG entry
MetaCyc	metabolic pathway
PRIAM	profile
PDB structures	RCSB PDB PDBe PDBsum
Gene Ontology	AmiGO / QuickGO
PMC
Search
PMC	articles
PubMed	articles
NCBI	proteins

In enzymology, a dolichol kinase (EC 2.7.1.108) is an enzyme that catalyzes the chemical reaction

CTP + dolichol

\rightleftharpoons

CDP + dolichyl phosphate

Thus, the two substrates of this enzyme are CTP and dolichol, whereas its two products are CDP and dolichyl phosphate.

This enzyme belongs to the family of transferases, to be specific, those transferring phosphorus-containing groups (phosphotransferases) with an alcohol group as acceptor. The systematic name of this enzyme class is CTP:dolichol O-phosphotransferase. This enzyme is also called dolichol phosphokinase. This enzyme participates in N-glycan biosynthesis.

In humans dolichol kinase is encoded by the DOLK gene.^[5]^[6]^[7]

Function edit

Dolichyl monophosphate is an essential glycosyl carrier lipid for C- and O-mannosylation and N-glycosylation of proteins and for biosynthesis of glycosylphosphatidylinositol anchors in endoplasmic reticulum (ER). Dolichol kinase catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate biosynthesis.^[8]

Clinical significance edit

Mutations in DOLK cause a subtype of the congenital disorders of glycosylation, DOLK-CDG (CDG-Im).^[9]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000175283 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000075419 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (Oct 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
^ Shridas P, Waechter CJ (Oct 2006). "Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site". J Biol Chem. 281 (42): 31696–704. doi:10.1074/jbc.M604087200. PMID 16923818.
^ "Entrez Gene: DOLK dolichol kinase".
^ Fernandez F, Shridas P, Jiang S, Aebi M, Waechter CJ (September 2002). "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" (PDF). Glycobiology (Submitted manuscript). 12 (9): 555–62. doi:10.1093/glycob/cwf068. PMID 12213788.
^ Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T (March 2007). "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy". Am. J. Hum. Genet. 80 (3): 433–40. doi:10.1086/512130. PMC 1821118. PMID 17273964.