2.7.1.36: mevalonate kinase
This is an abbreviated version!
For detailed information about mevalonate kinase, go to the full flat file.
Word Map on EC 2.7.1.36
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2.7.1.36
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fever
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autoinflammatory
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cholesterol
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isoprenoids
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mediterranean
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aciduria
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hereditary
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receptor-associated
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hyperimmunoglobulinemia
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vinyl
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ketone
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cryopyrin-associated
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phosphomevalonate
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febrile
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igd
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isopentenyl
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monogenic
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farnesyl
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tnfrsf1a
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isoprene
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hyper-igd
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anakinra
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rash
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lymphadenopathy
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hmg-coa
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inflammasome
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geranylgeranylation
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amyloidosis
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aphthous
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porokeratosis
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arthralgia
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non-sterol
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pyoderma
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nod2
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papa
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autoinflammation
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gangrenosum
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canakinumab
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adenitis
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pstpip1
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hyperimmunoglobulin
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medicine
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hepatosplenomegaly
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cholesterogenesis
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etanercept
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cryopyrin
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synthesis
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diagnostics
- 2.7.1.36
- fever
- autoinflammatory
- cholesterol
-
isoprenoids
-
mediterranean
- aciduria
- hereditary
-
receptor-associated
- hyperimmunoglobulinemia
-
vinyl
- ketone
-
cryopyrin-associated
- phosphomevalonate
-
febrile
- igd
-
isopentenyl
-
monogenic
-
farnesyl
-
tnfrsf1a
- isoprene
-
hyper-igd
-
anakinra
- rash
- lymphadenopathy
- hmg-coa
- inflammasome
-
geranylgeranylation
- amyloidosis
-
aphthous
- porokeratosis
- arthralgia
-
non-sterol
-
pyoderma
- nod2
- papa
- autoinflammation
- gangrenosum
-
canakinumab
- adenitis
-
pstpip1
-
hyperimmunoglobulin
- medicine
-
hepatosplenomegaly
-
cholesterogenesis
-
etanercept
-
cryopyrin
- synthesis
- diagnostics
Reaction
Synonyms
ATP: mevalonate 5-phosphotransferase, ATP:mevalonate 5-phosphotransferase, GbMVK, kinase, mevalonate (phosphorylating), mevalonate 5-phosphotransferase, mevalonate phosphokinase, mevalonic acid kinase, mevalonic kinase, MmMK, MVA kinase, MVK, SSO0383, TcMVK, TeMVK
ECTree
Advanced search results
Engineering
Engineering on EC 2.7.1.36 - mevalonate kinase
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A148T
mutation may be responsible for the hyperimmunoglobulinemia phenotype
C152Y
identification of a mevalonate kinase heterozygous missense point mutation in exon 5 (c.455:G[A]), resulting in the substitution of tyrosine for cysteine (p.C152Y) in a predicted functional domain of the MVK enzyme. The patient shows disseminated superficial actinic porokeratosis (DSAP), which is a genodermatosis with autosomal dominant inheritance and near-complete penetrance clinically featuring uniform 3- to 7-mm annular lesions with scaly borders on sun-exposed face and extremities. The hyperkeratotic rim correlates histopathologically with the presence of a cornoid lamella. Phenotype, overview
D204A
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stable, with 40000fold diminution in kcat. Mutant is able to bind a spin-labeled ATP analogue with stoichiometries and equilibrium binding constants comparable to wild-type
D204N
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stable, with 40000fold diminution in kcat. Mutant is able to bind a spin-labeled ATP analogue with stoichiometries and equilibrium binding constants comparable to wild-type
E148Q
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mutation detected in patient with hyperimmunoglobulinemia D and periodic fever syndrome
E193Q
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50fold diminution in Vmax and 20fold increase Km values for ATP, 40fold increase in Km for mevalonate
G336S
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homozygous mutation determined in a patient with severe deficiency in mevalonate kinase associated with nephritis. Catalytic activity is less than 1% of wild-type activity
H20P
markedly decreased mevalonate kinase activity when expressed in Escherichia coli
I268T
L264F
markedly decreased mevalonate kinase activity when expressed in Escherichia coli
L265P
markedly decreased mevalonate kinase activity when expressed in Escherichia coli
P165L
mutation may be responsible for the hyperimmunoglobulinemia phenotype
Q390P
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mutation determined in patient with mevalonate kinase deficiency. Gene additionally has a four-base deletion c.475-478 delACTG
S378P/V377I/R92Q
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naturally occuring mutation in the MVK gene, the mutation leads to reduced enzyme activity, which participates in the development of the hyperimmunoglobulinemia D and periodic fever syndrome, HIDS, an autosomal recessively inherited autoinflammatory disease, R92Q is a low-penetrance mutation, phenotype, overview
T243I
markedly decreased mevalonate kinase activity when expressed in Escherichia coli
V310M
markedly decreased mevalonate kinase activity when expressed in Escherichia coli
V377I
mutation may be responsible for the hyperimmunoglobulinemia phenotype
V377I/I268T
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mutation determined in patients with hyperimmunoglobulinemia D and periodic fever syndrome. Patients developed significant B cell cytopenia with hypogammaglobulinemia. Therapy of prednisone, azathioprine, and intravenous immunoglobulins resulted in reduced incidence and severity of febrile attacks
V377I/R92Q
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naturally occuring mutation in the MVK gene, the mutation leads to reduced enzyme activity, which participates in the development of the hyperimmunoglobulinemia D and periodic fever syndrome, HIDS, an autosomal recessively inherited autoinflammatory disease, R92Q is a low-penetrance mutation, phenotype, overview
C107A
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decrease in temperature stability, slight increase in Km value for ATP
C107S
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decrease in temperature stability, slight increase in Km value for ATP
C107S/C281S
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decrease in temperature stability, slight increase in Km value for ATP
C197A/C281A
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decrease in temperature stability, slight increase in Km value for ATP
C281A
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decrease in temperature stability, slight increase in Km value for ATP
C281S
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decrease in temperature stability, slight increase in Km value for ATP
D204N
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mutation in active site, decrease in luteinizing hormone receptor mRNA binding
D316A
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mutation outside tie active site, no change in luteinizing hormone receptor mRNA binding
E193Q
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mutation in active site, decrease in luteinizing hormone receptor mRNA binding
E193Q/D204N
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significant decrease in luteinizing hormone receptor mRNA binding
E193Q/K13A
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significant decrease in luteinizing hormone receptor mRNA binding
H20K
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expressed in inclusion bodies that can be solubilized in 8 M urea, refolding to a soluble protein was unsuccessful indicating irreversible structural changes
H20L
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no significant changes in secondary structure, increased Km for both substrates
H20Y
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no significant changes in secondary structure, increased Km for both substrates
K13A
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mutation in active site, decrease in luteinizing hormone receptor mRNA binding
S146A
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mutation in active site, decrease in luteinizing hormone receptor mRNA binding
S146A/E193Q
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significant decrease in luteinizing hormone receptor mRNA binding
S314A
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mutation outside the active site, no change in luteinizing hormone receptor mRNA binding
additional information
markedly decreased mevalonate kinase activity when expressed in Escherichia coli
I268T
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leads in homozygous state to mevalonic aciduria, inactive mevalonate kinase
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mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, an autosomal recessive autoinflammatory disease, phenotype
additional information
recombinant expression of the enzyme in HaCat human keratinocytes causes interference with the expression of other genes. The mRNA and protein expression levels of keratin 1 and involucrin are significantly decreased following interference of MVK expression, and the decrease is markedly attenuated by farnesyl diphosphate (FPP). Furthermore, the apoptotic rate is markedly increased following MVK interference, and the increase is significantly attenuated by geranylxadgeranyl diphosphate (GGPP). Overexpression of MVK significantly decreased the apoptotic rate of HaCat cells. The prenylation levels after MVK interference is notably decreased, which is markedly attenuated by GGPP. The overexpression of MVK significantly increased the prenylation levels of HaCat cells. FPP or GGPP reverse MVK interference-induced decrease in geranylgeranylation levels of lamin A, HRAS, KRAS, NRAS, Rho E, Rho B, Rho A, RAC1 and cdc42
additional information
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recombinant expression of the enzyme in HaCat human keratinocytes causes interference with the expression of other genes. The mRNA and protein expression levels of keratin 1 and involucrin are significantly decreased following interference of MVK expression, and the decrease is markedly attenuated by farnesyl diphosphate (FPP). Furthermore, the apoptotic rate is markedly increased following MVK interference, and the increase is significantly attenuated by geranylxadgeranyl diphosphate (GGPP). Overexpression of MVK significantly decreased the apoptotic rate of HaCat cells. The prenylation levels after MVK interference is notably decreased, which is markedly attenuated by GGPP. The overexpression of MVK significantly increased the prenylation levels of HaCat cells. FPP or GGPP reverse MVK interference-induced decrease in geranylgeranylation levels of lamin A, HRAS, KRAS, NRAS, Rho E, Rho B, Rho A, RAC1 and cdc42
additional information
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deletion of one mevalonate kinase allele yields viable mice with significantly reduced liver mevalonate kinase enzyme activity. Cholesterol levels in tissues and blood, and isoprene end-products ubiquinone and dolichol in tissues are normal in Mvk+/- mice. Mevalonate concentrations are increased in spleen, heart, and kidney yet normal in brain and liver. While the trend is for higher IgA levels in Mvk+/- sera, IgD levels are significantly increased and the animals show increased serum tumor necrosis factor-alpha levels