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Gene and Protein Information ![]() |
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Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
Human | - | 396 | 12q24.11 | MVK | mevalonate kinase | 8 |
Mouse | - | 395 | 5 55.99 cM | Mvk | mevalonate kinase | |
Rat | - | 395 | 12q16 | Mvk | mevalonate kinase |
Database Links ![]() |
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Alphafold | Q03426 (Hs), Q9R008 (Mm), P17256 (Rn) |
BRENDA | 2.7.1.36 |
CATH/Gene3D | 3.30.230.10, 3.30.70.890 |
ChEMBL Target | CHEMBL4274 (Rn) |
Ensembl Gene | ENSG00000110921 (Hs), ENSMUSG00000041939 (Mm), ENSRNOG00000049604 (Rn) |
Entrez Gene | 4598 (Hs), 17855 (Mm), 81727 (Rn) |
Human Protein Atlas | ENSG00000110921 (Hs) |
KEGG Enzyme | 2.7.1.36 |
KEGG Gene | hsa:4598 (Hs), mmu:17855 (Mm), rno:81727 (Rn) |
OMIM | 251170 (Hs) |
Orphanet | ORPHA123588 (Hs) |
Pharos | Q03426 (Hs) |
RefSeq Nucleotide | NM_001114185 (Hs), NM_000431 (Hs), NM_023556 (Mm), NM_031063 (Rn) |
RefSeq Protein | NP_001107657 (Hs), NP_000422 (Hs), NP_076045 (Mm), NP_112325 (Rn) |
UniProtKB | Q03426 (Hs), Q9R008 (Mm), P17256 (Rn) |
Wikipedia | MVK (Hs) |
Selected 3D Structures ![]() |
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Enzyme Reaction ![]() |
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Substrates and Reaction Kinetics ![]() |
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Cofactors ![]() |
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Download all structure-activity data for this target as a CSV file
Inhibitors | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Key to terms and symbols | View all chemical structures | Click column headers to sort | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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View species-specific inhibitor tables |
Immuno Process Associations | ||
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Tissue Distribution ![]() |
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Clinically-Relevant Mutations and Pathophysiology ![]() |
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General Comments |
Deficiency in mevalonate kinase causes metabolic inflammatory disease [25]. |
1. Chu X, Li D. (2003) Cloning, expression, and purification of His-tagged rat mevalonate kinase. Protein Expr Purif, 27 (1): 165-70. [PMID:12509999]
2. Chu X, Li D. (2003) Expression, purification, and characterization of His20 mutants of rat mevalonate kinase. Protein Expr Purif, 32 (1): 75-82. [PMID:14680942]
3. Chu X, Yu W, Wu L, Liu X, Li N, Li D. (2007) Effect of a disulfide bond on mevalonate kinase. Biochim Biophys Acta, 1774 (12): 1571-81. [PMID:17964869]
4. Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M, International Hyper-IgD Study Group. (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet, 9 (4): 260-6. [PMID:11313769]
5. D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F et al.. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet, 13 (3): 314-20. [PMID:15536479]
6. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M. (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet, 22 (2): 178-81. [PMID:10369262]
7. Fu Z, Voynova NE, Herdendorf TJ, Miziorko HM, Kim JJ. (2008) Biochemical and structural basis for feedback inhibition of mevalonate kinase and isoprenoid metabolism. Biochemistry, 47 (12): 3715-24. [PMID:18302342]
8. Gibson KM, Hoffmann GF, Tanaka RD, Bishop RW, Chambliss KL. (1997) Mevalonate kinase map position 12q24. Chromosome Res, 5 (2): 150. [PMID:9146921]
9. Hinson DD, Chambliss KL, Toth MJ, Tanaka RD, Gibson KM. (1997) Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways. J Lipid Res, 38 (11): 2216-23. [PMID:9392419]
10. Hinson DD, Ross RM, Krisans S, Shaw JL, Kozich V, Rolland MO, Divry P, Mancini J, Hoffmann GF, Gibson KM. (1999) Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet, 65 (2): 327-35. [PMID:10417275]
11. Hoffmann F, Lohse P, Stojanov S, Shin YS, Renner ED, Kéry A, Zellerer S, Belohradsky BH. (2005) Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation. Eur J Hum Genet, 13 (4): 510-2. [PMID:15657603]
12. Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L. (1986) Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med, 314 (25): 1610-4. [PMID:3012338]
13. Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics, 91 (5): 915-21. [PMID:8386351]
14. Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR. (2004) Mevalonate kinase is a cytosolic enzyme in humans. J Cell Sci, 117 (Pt 4): 631-9. [PMID:14730012]
15. Houten SM, Frenkel J, Rijkers GT, Wanders RJ, Kuis W, Waterham HR. (2002) Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet, 11 (25): 3115-24. [PMID:12444096]
16. Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT et al.. (2001) Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet, 9 (4): 253-9. [PMID:11313768]
17. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA et al.. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet, 22 (2): 175-7. [PMID:10369261]
18. Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ et al.. (1999) Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. Hum Mol Genet, 8 (8): 1523-8. [PMID:10401001]
19. Murphy C, Murray AM, Meaney S, Gåfvels M. (2007) Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolism. Biochem Biophys Res Commun, 355 (2): 359-64. [PMID:17300749]
20. Potter D, Miziorko HM. (1997) Identification of catalytic residues in human mevalonate kinase. J Biol Chem, 272 (41): 25449-54. [PMID:9325256]
21. Potter D, Wojnar JM, Narasimhan C, Miziorko HM. (1997) Identification and functional characterization of an active-site lysine in mevalonate kinase. J Biol Chem, 272 (9): 5741-6. [PMID:9038186]
22. Qiu Y, Li D. (2006) Bifunctional inhibitors of mevalonate kinase and mevalonate 5-diphosphate decarboxylase. Org Lett, 8 (6): 1013-6. [PMID:16524256]
23. Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD. (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]
24. Tanaka RD, Schafer BL, Lee LY, Freudenberger JS, Mosley ST. (1990) Purification and regulation of mevalonate kinase from rat liver. J Biol Chem, 265 (4): 2391-8. [PMID:2153681]
25. van der Burgh R, Ter Haar NM, Boes ML, Frenkel J. (2013) Mevalonate kinase deficiency, a metabolic autoinflammatory disease. Clin Immunol, 147 (3): 197-206. [PMID:23110805]
26. Voynova NE, Rios SE, Miziorko HM. (2004) Staphylococcus aureus mevalonate kinase: isolation and characterization of an enzyme of the isoprenoid biosynthetic pathway. J Bacteriol, 186 (1): 61-7. [PMID:14679225]
27. Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY et al.. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet, 44 (10): 1156-60. [PMID:22983302]