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Aliases for MVK Gene

Aliases for MVK Gene

  • Mevalonate Kinase 2 3
  • LH Receptor MRNA-Binding Protein 2 3
  • EC 2.7.1.36 4 63
  • POROK3 3 6
  • MVLK 3 6
  • MK 3 4
  • Mevalonate Kinase (Mevalonic Aciduria) 2
  • Mevalonate Kinase 1 3
  • Mevalonic Aciduria 2
  • LRBP 3

External Ids for MVK Gene

Previous GeneCards Identifiers for MVK Gene

  • GC12P109069
  • GC12P109850
  • GC12P109904
  • GC12P108474
  • GC12P110012
  • GC12P107029

Summaries for MVK Gene

Entrez Gene Summary for MVK Gene

  • 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]

GeneCards Summary for MVK Gene

MVK (Mevalonate Kinase) is a Protein Coding gene. Diseases associated with MVK include mevalonic aciduria and hyper-igd syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include identical protein binding and mevalonate kinase activity.

UniProtKB/Swiss-Prot for MVK Gene

  • May be a regulatory site in cholesterol biosynthetic pathway

Gene Wiki entry for MVK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MVK Gene

Genomics for MVK Gene

Regulatory Elements for MVK Gene

Genomic Location for MVK Gene

Start:
109,573,255 bp from pter
End:
109,598,117 bp from pter
Size:
24,863 bases
Orientation:
Plus strand

Genomic View for MVK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MVK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MVK Gene

Proteins for MVK Gene

  • Protein details for MVK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03426-KIME_HUMAN
    Recommended name:
    Mevalonate kinase
    Protein Accession:
    Q03426
    Secondary Accessions:

    Protein attributes for MVK Gene

    Size:
    396 amino acids
    Molecular mass:
    42451 Da
    Quaternary structure:
    • Homodimer
    SequenceCaution:
    • Sequence=CAA53059.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MVK Gene

neXtProt entry for MVK Gene

Proteomics data for MVK Gene at MOPED

Selected DME Specific Peptides for MVK Gene

Post-translational modifications for MVK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for MVK Gene

Gene Families for MVK Gene

Graphical View of Domain Structure for InterPro Entry

Q03426

UniProtKB/Swiss-Prot:

KIME_HUMAN :
  • Q03426
Family:
  • Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
genes like me logo Genes that share domains with MVK: view

Function for MVK Gene

Molecular function for MVK Gene

GENATLAS Biochemistry: mevalonate kinase,homodimeric enzyme,peroxisomal,catalyzing an early step in the mevalonate pathway for the synthesis of isoprenoids and cholesterol,a structural component of membranes and precursor for bile acids and steroid hormones
UniProtKB/Swiss-Prot CatalyticActivity: ATP + (R)-mevalonate = ADP + (R)-5-phosphomevalonate
UniProtKB/Swiss-Prot EnzymeRegulation: Farnesyl- and geranyl-pyrophosphates are competitive inhibitors
UniProtKB/Swiss-Prot Function: May be a regulatory site in cholesterol biosynthetic pathway

Enzyme Numbers (IUBMB) for MVK Gene

Gene Ontology (GO) - Molecular Function for MVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004496 mevalonate kinase activity TAS --
GO:0005524 ATP binding IEA --
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with MVK: view

Phenotypes for MVK Gene

GenomeRNAi human phenotypes for MVK:
genes like me logo Genes that share phenotypes with MVK: view

miRNA for MVK Gene

miRTarBase miRNAs that target MVK

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MVK Gene

Localization for MVK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MVK Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MVK Gene COMPARTMENTS Subcellular localization image for MVK gene
Compartment Confidence
cytosol 5
extracellular 2
peroxisome 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005777 NOT peroxisome IDA 14730012
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MVK: view

Pathways for MVK Gene

genes like me logo Genes that share pathways with MVK: view

UniProtKB/Swiss-Prot Q03426-KIME_HUMAN

  • Pathway: Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3

Gene Ontology (GO) - Biological Process for MVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008299 isoprenoid biosynthetic process IDA 14680974
GO:0016310 phosphorylation IEA --
GO:0019287 isopentenyl diphosphate biosynthetic process, mevalonate pathway IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MVK: view

Compounds for MVK Gene

(4) HMDB Compounds for MVK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Mevalonic acid
  • (3RS)-Mevalonate
150-97-0
Mevalonic acid-5P
  • (R)-5-phosphomevalonate
73566-35-5

(1) Drugbank Compounds for MVK Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
FARNESYL THIOPYROPHOSPHATE
target

(8) IUPHAR Ligand for MVK Gene

Ligand Type Action Affinity Pubmed IDs
farnesyl thiodiphosphate Inhibitor Inhibition 7.54
trans,trans-farnesyl diphosphate Inhibitor Feedback inhibition 7.47
geranyl diphosphate Inhibitor Feedback inhibition 6.94
isopentenyl diphosphate Inhibitor Feedback inhibition 4.8
dimethylallyl diphosphate Inhibitor Competitive 4.7
geranylgeranyl diphosphate Inhibitor Feedback inhibition 4.6
farnesol Inhibitor Competitive 4.14
dolichol phosphate Inhibitor Competitive 4.08

(30) Novoseek inferred chemical compound relationships for MVK Gene

Compound -log(P) Hits PubMed IDs
mevalonate 97.4 218
phosphomevalonate 97.2 27
mevalonate pyrophosphate 84 4
geranylgeraniol 79.1 1
isopentenyl diphosphate 78.4 7
genes like me logo Genes that share compounds with MVK: view

Transcripts for MVK Gene

Unigene Clusters for MVK Gene

Mevalonate kinase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MVK Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - - - - - - - - - - - -
SP8: - -
SP9:
SP10: - - - - -
SP11:
SP12:

ExUns: 12a · 12b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for MVK Gene

GeneLoc Exon Structure for
MVK
ECgene alternative splicing isoforms for
MVK

Expression for MVK Gene

mRNA expression in normal human tissues for MVK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MVK Gene

This gene is overexpressed in Liver (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MVK Gene

SOURCE GeneReport for Unigene cluster for MVK Gene Hs.130607

genes like me logo Genes that share expressions with MVK: view

No data available for mRNA Expression by UniProt/SwissProt for MVK Gene

Orthologs for MVK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MVK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MVK 35
  • 99.49 (n)
  • 99.49 (a)
MVK 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MVK 35
  • 84.34 (n)
  • 82.58 (a)
MVK 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MVK 35
  • 85.44 (n)
  • 84.6 (a)
MVK 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mvk 35
  • 82.1 (n)
  • 81.17 (a)
Mvk 16
Mvk 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MVK 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mvk 35
  • 83.38 (n)
  • 81.93 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 56 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
MVK 35
  • 64.69 (n)
  • 63.76 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16053 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mvk 35
  • 60.72 (n)
  • 63.31 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.14909 35
mvk 35
  • 59.18 (n)
  • 57.14 (a)
mvk 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG33671 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mvk-1 35
  • 46.36 (n)
  • 40.16 (a)
mvk-1 36
  • 25 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER335W 35
  • 49.44 (n)
  • 37.99 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG12 35
  • 44.47 (n)
  • 35.01 (a)
ERG12 36
  • 30 (a)
OneToOne
ERG12 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07469g 35
  • 46.46 (n)
  • 39.94 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MK 35
  • 48.49 (n)
  • 42.09 (a)
rice
(Oryza sativa)
Liliopsida Os10g0329300 35
  • 48.19 (n)
  • 39.95 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03633 35
  • 48.61 (n)
  • 37.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg12 35
  • 42.49 (n)
  • 38.93 (a)
Species with no ortholog for MVK:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MVK Gene

ENSEMBL:
Gene Tree for MVK (if available)
TreeFam:
Gene Tree for MVK (if available)

Paralogs for MVK Gene

genes like me logo Genes that share paralogs with MVK: view

No data available for Paralogs for MVK Gene

Variants for MVK Gene

Sequence variations from dbSNP and Humsavar for MVK Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs2270374 -- 109,591,381(-) AACCC(C/T)GGTTC intron-variant
rs2270375 Benign 109,586,736(-) ACCAG(C/T)GGGTC intron-variant
rs2287218 Likely benign 109,581,533(-) TCCCC(A/G)TCCTT reference, synonymous-codon, intron-variant
rs3742014 -- 109,595,377(-) GCAAC(A/G)ATCTT intron-variant
rs3742015 -- 109,579,320(-) TCTAC(A/G)GAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MVK Gene

Variant ID Type Subtype PubMed ID
nsv899514 CNV Loss 21882294
dgv1490n71 CNV Loss 21882294

Relevant External Links for MVK Gene

HapMap Linkage Disequilibrium report
MVK
Human Gene Mutation Database (HGMD)
MVK
Locus Specific Mutation Databases (LSDB)
MVK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MVK Gene

Disorders for MVK Gene

(3) OMIM Diseases for MVK Gene (251170)

UniProtKB/Swiss-Prot

KIME_HUMAN
  • Mevalonic aciduria (MEVA) [MIM:610377]: Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. {ECO:0000269 PubMed:10401001, ECO:0000269 PubMed:10417275, ECO:0000269 PubMed:11313768, ECO:0000269 PubMed:11313769, ECO:0000269 PubMed:1377680}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]: Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. {ECO:0000269 PubMed:10369261, ECO:0000269 PubMed:10369262, ECO:0000269 PubMed:11313768, ECO:0000269 PubMed:11313769, ECO:0000269 PubMed:15536479}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(21) Novoseek inferred disease relationships for MVK Gene

Disease -log(P) Hits PubMed IDs
hyper-igd syndrome 93.3 5
tumor necrosis factor receptor-associated periodic syndrome 86 3
familial mediterranean fever 83.7 9
relapsing fever 82.4 6
blau syndrome 80.5 3

Relevant External Links for MVK

Genetic Association Database (GAD)
MVK
Human Genome Epidemiology (HuGE) Navigator
MVK
genes like me logo Genes that share disorders with MVK: view

Publications for MVK Gene

  1. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. (PMID: 1377680) Schafer B.L. … Tanaka R.D. (J. Biol. Chem. 1992) 2 3 4 23
  2. Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line. (PMID: 8302606) Graef E. … Koshy R. (Oncogene 1994) 3 4 23
  3. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. (PMID: 10369261) Houten S.M. … Poll-The B.T. (Nat. Genet. 1999) 3 4 23
  4. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. (PMID: 10369262) Drenth J.P.H. … Delpech M. (Nat. Genet. 1999) 3 4 23
  5. Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. (PMID: 10401001) Houten S.M. … Waterham H.R. (Hum. Mol. Genet. 1999) 3 4 23

Products for MVK Gene

  • Addgene plasmids for MVK

Sources for MVK Gene

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