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{{protein
{{enzyme
|Name=mevalonate kinase (mevalonic aciduria)
| Name = Mevalonate Kinase
|caption=
| EC_number = 2.7.1.36
|image=
| CAS_number = 9026-52-2
|width=
| IUBMB_EC_number = 2/7/1/36
|HGNCid=7530
| GO_code = 0004496
|Symbol=MVK
| image = MevalonateKinase.png
|AltSymbols=
| width =
|EntrezGene=4598
| caption = [[X-ray crystallography#Biological macromolecular crystallography|Crystallographic structure]] of mevalonate kinase from ''[[Staphylococcus aureus]]''.<ref name="pmid20419351">{{PDB|2X7I}}; {{cite journal | vauthors = Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, Kerou M, Weikart ND, Kadi N, Sheikh MA, Schmelz S, Dorward M, Zawadzki M, Cozens C, Falconer H, Powers H, Overton IM, van Niekerk CA, Peng X, Patel P, Garrett RA, Prangishvili D, Botting CH, Coote PJ, Dryden DT, Barton GJ, Schwarz-Linek U, Challis GL, Taylor GL, White MF, Naismith JH | title = The Scottish Structural Proteomics Facility: targets, methods and outputs | journal = J. Struct. Funct. Genomics | volume = 11 | issue = 2 | pages = 167–80 |date=June 2010 | pmid = 20419351 | pmc = 2883930 | doi = 10.1007/s10969-010-9090-y | url = | issn = }}</ref>
|OMIM=251170
|RefSeq=NM_000431
|UniProt=Q03426
|PDB=
|ECnumber=2.7.1.36
|Chromosome=12
|Arm=q
|Band=24
|LocusSupplementaryData=
}}
}}
{{SI}}
{{Infobox_gene}}


'''Mevalonate kinase''' is an [[enzyme]] (specifically a [[kinase]]) that in humans is encoded by the ''MVK'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: mevalonate kinase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4598| accessdate = }}</ref><ref name="pmid1377680">{{cite journal | vauthors = Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD | title = Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria | journal = J. Biol. Chem. | volume = 267 | issue = 19 | pages = 13229–38 |date=July 1992 | pmid = 1377680 | doi = | url = | issn = }}</ref>  Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals.  This enzyme catalyzes the following reaction:
[[Image:Mevalonate kinase reaction.svg|650px|thumb|center|[[Adenosine triphosphate|ATP]] + ''(R)''-[[mevalonic acid|mevalonate]] <math>\rightleftharpoons</math> [[Adenosine diphosphate|ADP]] + ''(R)''-5-[[phosphomevalonic acid|phosphomevalonate]]]].


'''Mevalonate kinase''' is an enzyme in the mevalonate pathway.
== Function ==


[[Image:Mevalonate_pathway.png|350px|thumb|center|[[Mevalonate pathway]]]]
[[Mevalonic acid|Mevalonate]] is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.<ref name="entrez"/>
 
{|
|[[Image:Mevalonate pathway.png|320px|thumb|[[Mevalonate pathway]]]]
|}
 
==Clinical significance==
Defects can be associated with [[hyperimmunoglobulinemia D with recurrent fever]].<ref>{{OMIM|260920}}</ref>
 
Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash.<ref name="entrez"/>
 
==See also==
* [[Mevalonic aciduria]]
* [[Mevalonic acid]]
 
==References==
{{reflist}}
{{Clear}}
 
==Further reading==
{{refbegin | 2}}
*{{cite journal  |vauthors=Ma J, Dempsey AA, Stamatiou D, etal |title=Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects. |journal=Atherosclerosis |volume=191 |issue= 1 |pages= 63–72 |year= 2007 |pmid= 16806233 |doi= 10.1016/j.atherosclerosis.2006.05.032 }}
*{{cite journal  |vauthors=Willer CJ, Sanna S, Jackson AU, etal |title=Newly identified loci that influence lipid concentrations and risk of coronary artery disease. |journal=Nat. Genet. |volume=40 |issue= 2 |pages= 161–9 |year= 2008 |pmid= 18193043 |doi= 10.1038/ng.76 |pmc=5206900 }}
*{{cite journal  |vauthors=Naruto T, Nakagishi Y, Mori M, etal |title=Hyper-IgD syndrome with novel mutation in a Japanese girl. |journal=Mod Rheumatol |volume=19 |issue= 1 |pages= 96–9 |year= 2009 |pmid= 18941711 |doi= 10.1007/s10165-008-0130-4 }}
*{{cite journal  |author=Krisans SK |title=The role of peroxisomes in cholesterol metabolism. |journal=Am. J. Respir. Cell Mol. Biol. |volume=7 |issue= 4 |pages= 358–64 |year= 1992 |pmid= 1356376 |doi=  10.1165/ajrcmb/7.4.358}}
*{{cite journal  |vauthors=Houten SM, Wanders RJ, Waterham HR |title=Biochemical and genetic aspects of mevalonate kinase and its deficiency. |journal=Biochim. Biophys. Acta |volume=1529 |issue= 1-3 |pages= 19–32 |year= 2000 |pmid= 11111075 |doi=  10.1016/s1388-1981(00)00135-9|url=https://pure.uva.nl/ws/files/3751864/23070_Thesis.pdf }}
*{{cite journal  |vauthors=Fu Z, Voynova NE, Herdendorf TJ, etal |title=Biochemical and structural basis for feedback inhibition of mevalonate kinase and isoprenoid metabolism. |journal=Biochemistry |volume=47 |issue= 12 |pages= 3715–24 |year= 2008 |pmid= 18302342 |doi= 10.1021/bi7024386 }}
*{{cite journal  |vauthors=Kathiresan S, Willer CJ, Peloso GM, etal |title=Common variants at 30 loci contribute to polygenic dyslipidemia. |journal=Nat. Genet. |volume=41 |issue= 1 |pages= 56–65 |year= 2009 |pmid= 19060906 |doi= 10.1038/ng.291 |pmc=2881676}}
*{{cite journal  |vauthors=Hager EJ, Gibson KM |title=Mevalonate kinase deficiency and autoinflammation. |journal=N. Engl. J. Med. |volume=357 |issue= 18 |pages= 1871–2 |year= 2007 |pmid= 17978300 |doi= 10.1056/NEJMc072799 }}
*{{cite journal  |vauthors=Marques-Vidal P, Bochud M, Paccaud F, etal |title=No interaction between alcohol consumption and HDL-related genes on HDL cholesterol levels. |journal=Atherosclerosis |volume=211 |issue= 2 |pages= 551–7 |year= 2010 |pmid= 20430392 |doi= 10.1016/j.atherosclerosis.2010.04.001 }}
*{{cite journal  |vauthors=Lu Y, Dollà ME, Imholz S|title=Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. |journal=J. Lipid Res. |volume=49 |issue= 12 |pages= 2582–9 |year= 2008 |pmid= 18660489 |doi= 10.1194/jlr.M800232-JLR200 |display-authors=etal}}
*{{cite journal  |vauthors=Samkari A, Borzutzky A, Fermo E, etal |title=A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia. |journal=Pediatrics |volume=125 |issue= 4 |pages= e964-8 |year= 2010 |pmid= 20194276 |doi= 10.1542/peds.2009-1774 }}
*{{cite journal  |vauthors=Nakayama K, Bayasgalan T, Yamanaka K, etal |title=Large scale replication analysis of loci associated with lipid concentrations in a Japanese population. |journal=J. Med. Genet. |volume=46 |issue= 6 |pages= 370–4 |year= 2009 |pmid= 19487539 |doi= 10.1136/jmg.2008.064063 }}
*{{cite journal  |vauthors=Koné-Paut I, Sanchez E, Le Quellec A|title=Autoinflammatory gene mutations in Behçet's disease. |journal=Ann. Rheum. Dis. |volume=66 |issue= 6 |pages= 832–4 |year= 2007 |pmid= 17213252 |doi= 10.1136/ard.2006.068841 |pmc=1954666|display-authors=etal}}
*{{cite journal  |vauthors=Weissglas-Volkov D, Aguilar-Salinas CA, Sinsheimer JS, etal |title=Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. |journal=Circ Cardiovasc Genet |volume=3 |issue= 1 |pages= 31–8 |year= 2010 |pmid= 20160193 |doi= 10.1161/CIRCGENETICS.109.908004 |pmc=2827864}}
*{{cite journal  |vauthors=Simon A, van der Meer JW, Vesely R, etal |title=Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. |journal=Rheumatology (Oxford) |volume=45 |issue= 3 |pages= 269–73 |year= 2006 |pmid= 16234278 |doi= 10.1093/rheumatology/kei138 }}
*{{cite journal  |vauthors=Gattorno M, Sormani MP, D'Osualdo A, etal |title=A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. |journal=Arthritis Rheum. |volume=58 |issue= 6 |pages= 1823–32 |year= 2008 |pmid= 18512793 |doi= 10.1002/art.23474 }}
*{{cite journal  |vauthors=Fogarty MP, Xiao R, Prokunina-Olsson L, etal |title=Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. |journal=Hum. Mol. Genet. |volume=19 |issue= 10 |pages= 1921–9 |year= 2010 |pmid= 20159775 |doi= 10.1093/hmg/ddq067 |pmc=2860891}}
*{{cite journal  |vauthors=Nair AK, Young MA, Menon KM |title=Regulation of luteinizing hormone receptor mRNA expression by mevalonate kinase--role of the catalytic center in mRNA recognition. |journal=FEBS J. |volume=275 |issue= 13 |pages= 3397–407 |year= 2008 |pmid= 18494797 |doi= 10.1111/j.1742-4658.2008.06490.x }}
*{{cite journal  |vauthors=Deo RC, Reich D, Tandon A, etal |title=Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study. |journal=PLoS Genet. |volume=5 |issue= 1 |pages= e1000342 |year= 2009 |pmid= 19148283 |doi= 10.1371/journal.pgen.1000342 |pmc=2613537}}
*{{cite journal  |vauthors=Junyent M, Parnell LD, Lai CQ, etal |title=Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study. |journal=Am. J. Clin. Nutr. |volume=90 |issue= 3 |pages= 686–94 |year= 2009 |pmid= 19605566 |doi= 10.3945/ajcn.2009.27738 |pmc=2728650}}
{{refend}}


==External links==
==External links==
* {{MeshName|mevalonate+kinase}}
* {{MeshName|mevalonate+kinase}}


{{Mevalonate pathway}}
{{Kinases}}
{{Kinases}}
{{Mevalonate pathway}}
{{Enzymes}}
{{Portal bar|Molecular and Cellular Biology|border=no}}
 
{{DEFAULTSORT:Mevalonate Kinase}}
[[Category:EC 2.7.1]]
[[Category:Human proteins]]
 


{{WH}}
{{biochemistry-stub}}
{{WikiDoc Sources}}

Latest revision as of 20:12, 31 October 2018

Mevalonate Kinase
File:MevalonateKinase.png
Identifiers
EC number2.7.1.36
CAS number9026-52-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVK gene.[2][3] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:

File:Mevalonate kinase reaction.svg
ATP + (R)-mevalonate <math>\rightleftharpoons</math> ADP + (R)-5-phosphomevalonate

.

Function

Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[2]

Mevalonate pathway

Clinical significance

Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.[4]

Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash.[2]

See also

References

  1. ↑ PDB: 2X7I​; Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, Kerou M, Weikart ND, Kadi N, Sheikh MA, Schmelz S, Dorward M, Zawadzki M, Cozens C, Falconer H, Powers H, Overton IM, van Niekerk CA, Peng X, Patel P, Garrett RA, Prangishvili D, Botting CH, Coote PJ, Dryden DT, Barton GJ, Schwarz-Linek U, Challis GL, Taylor GL, White MF, Naismith JH (June 2010). "The Scottish Structural Proteomics Facility: targets, methods and outputs". J. Struct. Funct. Genomics. 11 (2): 167–80. doi:10.1007/s10969-010-9090-y. PMC 2883930. PMID 20419351.
  2. ↑ 2.0 2.1 2.2 "Entrez Gene: mevalonate kinase".
  3. ↑ Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD (July 1992). "Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria". J. Biol. Chem. 267 (19): 13229–38. PMID 1377680.
  4. ↑ Online Mendelian Inheritance in Man (OMIM) 260920

Further reading

External links


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