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DOLK
Identifiers
Aliases	DOLK, CDG1M, DK, DK1, SEC59, TMEM15, dolichol kinase
External IDs	OMIM: 610746; MGI: 2677836; HomoloGene: 8940; GeneCards: DOLK; OMA:DOLK - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q34.11 Start 128,945,530 bp End 128,947,603 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 B Start 30,174,243 bp End 30,176,346 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad stromal cell of endometrium right adrenal cortex left adrenal gland left adrenal cortex islet of Langerhans testicle gingival epithelium parotid gland nasal epithelium Top expressed in interventricular septum brown adipose tissue external carotid artery internal carotid artery tunica adventitia of aorta white adipose tissue vastus lateralis muscle intercostal muscle subcutaneous adipose tissue motor neuron More reference expression data BioGPS 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 Species Human Mouse Entrez 22845 227697 Ensembl ENSG00000175283 ENSMUSG00000075419 UniProt Q9UPQ8 Q8R2Y3 RefSeq (mRNA) NM_014908 NM_177648 RefSeq (protein) NP_055723 NP_808316 Location (UCSC) Chr 9: 128.95 – 128.95 Mb Chr 2: 30.17 – 30.18 Mb PubMed search
Wikidata
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In enzymology, a dolichol kinase (EC 2.7.1.108) is an enzyme that catalyzes the chemical reaction

CTP + dolichol ${\displaystyle \rightleftharpoons }$ 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.

Function

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.

Clinical significance

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

See also

• Dolichol kinase deficiency

References

1. ^ GRCh38: Ensembl release 89: ENSG00000175283 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000075419 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: DOLK dolichol kinase".
8. 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.
9. 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.

Further reading

• Burton WA, Scher MG, Waechter CJ (1979). "Enzymatic phosphorylation of dolichol in central nervous tissue". J. Biol. Chem. 254 (15): 7129–36. doi:10.1016/S0021-9258(18)50294-5. PMID 457672.
• Rip JW, Carroll KK (1980). "Properties of a dolichol phosphokinase activity associated with rat liver microsomes". Can. J. Biochem. 58 (10): 1051–6. doi:10.1139/o80-142. PMID 6257336.
• Kranz C, Jungeblut C, Denecke J, et al. (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.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kikuno R, Nagase T, Ishikawa K, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (3): 197–205. doi:10.1093/dnares/6.3.197. PMID 10470851.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

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