From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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 .
[5]
[6]
[7]
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.
[8]
Clinical significance
Mutations in DOLK cause a subtype of the
congenital disorders of glycosylation , DOLK-CDG (CDG-Im).
[9]
See also
References
^
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 .
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
Anabolism Catabolism Transport
M6P tagging
Activity Regulation Classification Kinetics Types