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Tchem
MVK
Mevalonate kinase

Protein Summary
Description
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342). This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000228510
  • ENSP00000228510
  • ENSG00000110921
  • ENST00000539575
  • ENSP00000443551

Symbol
  • MK
  • LRBP
  • MVLK
  • POROK3
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.92
histone modification site profile
0.91
molecular function
0.91
co-expressed gene
0.89
phenotype
0.79


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 321.59   (req: < 5)
Gene RIFs: 49   (req: <= 3)
Antibodies: 360   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 321.59   (req: >= 5)
Gene RIFs: 49   (req: > 3)
Antibodies: 360   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 9
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Active Ligands (9)
1 – 9 of 9
isopentenyl diphosphate
Rendered image for isopentenyl diphosphate
geranylgeranyl diphosphate
Rendered image for geranylgeranyl diphosphate
dimethylallyl diphosphate
Rendered image for dimethylallyl diphosphate
dolichol phosphate
Rendered image for dolichol phosphate
farnesol
Rendered image for farnesol
geranyl diphosphate
Rendered image for geranyl diphosphate
(RS)-5-diphosphomevalonate
Rendered image for (RS)-5-diphosphomevalonate
farnesyl thiodiphosphate
Rendered image for farnesyl thiodiphosphate
GWAS Traits (24)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
high density lipoprotein cholesterol measurement
9
7
18
92.8
diet measurement
5
3
6
83.5
apolipoprotein A 1 measurement
1
1
1
79.4
total cholesterol measurement
3
5
5
72.4
neuroticism measurement
2
3
0
5.8
70.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
high density lipoprotein cholesterol measurement
18
92.8
diet measurement
6
83.5
apolipoprotein A 1 measurement
1
79.4
total cholesterol measurement
5
72.4
neuroticism measurement
0
5.8
70.8
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
mevalonate kinase
VGNC:5491
467175
Macaque
mevalonate kinase
707645
Mouse
MGI:107624
17855
Rat
RGD:621295
81727
Dog
mevalonate kinase
VGNC:43509
486309
Species
Name
OMA
EggNOG
Inparanoid
Chimp
mevalonate kinase
Macaque
mevalonate kinase
Mouse
Rat
Dog
mevalonate kinase
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q03426-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (20)
Activation of gene expression by SREBF (SREBP) (R-HSA-2426168)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 6
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activation of gene expression by SREBF (SREBP)
Reactome
Cholesterol biosynthesis
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
Metabolism of steroids
Name
Explore in Pharos
Explore in Source
Activation of gene expression by SREBF (SREBP)
Cholesterol biosynthesis
Metabolism
Metabolism of lipids
Metabolism of steroids
Gene Ontology Terms (11)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Protein-Protein Interactions (134)
1 – 10 of 134
GGT5
Tbio
Family:  Enzyme
Novelty:  0.00602505
p_int:  0.99999633
p_ni:  0.00000367
Score:  0.343
Data Source:  BioPlex,STRINGDB
CCDC91
Tbio
Novelty:  0.11171935
p_int:  0.999964595
p_ni:  0.000001489
p_wrong:  0.000033916
Score:  0.536
Data Source:  BioPlex,STRINGDB
SPACA4
Tdark
Novelty:  0.21569953
p_int:  0.995511276
p_ni:  0.004488509
p_wrong:  2.14e-7
Score:  0.519
Data Source:  BioPlex,STRINGDB
KLHL10
Tdark
Novelty:  0.09497583
p_int:  0.993184886
p_ni:  0.006815114
p_wrong:  1e-9
Score:  0.191
Data Source:  BioPlex,STRINGDB
TACC3
Tbio
Novelty:  0.00708723
p_int:  0.99191169
p_ni:  0.00801506
p_wrong:  0.00007325
Score:  0.189
Data Source:  BioPlex,STRINGDB
KHDRBS2
Tbio
Novelty:  0.01986638
p_int:  0.77811048
p_ni:  0.212237823
p_wrong:  0.009651697
Score:  0.177
Data Source:  BioPlex,STRINGDB
HMGCR
Tclin
Family:  Enzyme
Novelty:  0.00046789
Score:  0.994
Data Source:  STRINGDB
MVD
Tchem
Family:  Enzyme
Novelty:  0.0067581
Score:  0.992
Data Source:  STRINGDB
PMVK
Tchem
Family:  Enzyme
Novelty:  0.00468598
Score:  0.992
Data Source:  STRINGDB
SREBF2
Tchem
Family:  TF
Novelty:  0.00171709
Score:  0.958
Data Source:  STRINGDB
Publication Statistics
PubMed Score  321.59

PubMed score by year
PubTator Score  288.27

PubTator score by year
Patents
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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