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Aliases for MVK Gene

Aliases for MVK Gene

  • Mevalonate Kinase 2 3 5
  • LH Receptor MRNA-Binding Protein 2 3
  • EC 2.7.1.36 4 61
  • MK 3 4
  • Mevalonate Kinase (Mevalonic Aciduria) 2
  • Mevalonate Kinase 1 3
  • Mevalonic Aciduria 2
  • POROK3 3
  • LRBP 3
  • MVLK 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 Peroxisome. 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

Enhancers for MVK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F109540 1 Ensembl ENCODE 20.7 -31.1 -31088 3.0 CTCF RAD21 RARA ZNF23 EED ZMIZ1 MLLT1 SMAD4 SPI1 NR2C2 KCTD10 MVK MMAB RNU4-32P MYO1H PIR34953 GC12M109568
GH12F109544 0.7 Ensembl ENCODE 20.4 -28.1 -28055 1.2 JUND ZIC2 MVK MMAB MYO1H RNU4-32P KCTD10 PIR34953 GC12M109568
GH12F109517 0.4 ENCODE 19.7 -54.2 -54228 2.9 CTCF ZNF654 JUN BHLHE40 TRIM22 REST RAD21 SMARCA4 POLR2A SMC3 KCTD10 MVK FAM222A-AS1 RNU4-32P MMAB ENSG00000255655 PIR34953 PIR31921 GC12P109501
GH12F109497 1.3 Ensembl ENCODE 19 -75.2 -75203 1.3 FOS MVK UBE3B KCTD10 ENSG00000255655 RNU4-32P MMAB FAM222A TRPV4 MYO1H GC12P109501
GH12F109432 1.1 Ensembl ENCODE 17 -140.0 -140005 1.1 CTCF ZNF654 ARID4B MAX TRIM22 REST RAD21 ATF2 MBD1 ZNF143 MYO1H MVK RNU4-32P MMAB UBE3B GC12M109436 GC12P109414
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MVK on UCSC Golden Path with GeneCards custom track

Promoters for MVK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090862 545 2001 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for MVK Gene

Chromosome:
12
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

Genes around MVK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MVK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

Selected DME Specific Peptides for MVK Gene

Post-translational modifications for MVK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MVK

Domains & Families for MVK Gene

Gene Families for MVK Gene

Graphical View of Domain Structure for InterPro Entry

Q03426

UniProtKB/Swiss-Prot:

KIME_HUMAN :
  • Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
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 IEA,TAS --
GO:0005515 protein binding IPI 21044950
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with MVK: view
genes like me logo Genes that share phenotypes with MVK: view

Human Phenotype Ontology for MVK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MVK

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 5
mitochondrion 2
peroxisome 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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 & Interactions 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:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with MVK: view

No data available for SIGNOR curated interactions for MVK Gene

Drugs & Compounds for MVK Gene

(26) Drugs for MVK Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alendronate Approved Pharma Inhibition, Inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 160
Adenosine triphosphate Approved Nutra 0
farnesol Experimental Pharma Competitive, Inhibitor 0
DIMETHYLALLYL DIPHOSPHATE Experimental Pharma Competitive, Inhibitor 0
geranyl diphosphate Experimental Pharma Feedback inhibition, Inhibitor 0

(17) Additional Compounds for MVK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Mevalonic acid
  • (3RS)-Mevalonate
  • (3RS)-Mevalonic acid
  • 2,4-Dideoxy-3-C-methylpentonate
  • 2,4-Dideoxy-3-C-methylpentonic acid
  • 3,5-Dihydroxy-3-methyl-Valerate
150-97-0
Mevalonic acid-5P
  • (R)-5-phosphomevalonate
  • (R)-5-phosphomevalonic acid
  • (R)-5-phosphomevaloonate
  • (R)-5-phosphomevaloonic acid
  • (R)-mevalonic acid 5-phosphate
73566-35-5
genes like me logo Genes that share compounds with MVK: view

Transcripts for MVK Gene

Unigene Clusters for MVK Gene

Mevalonate kinase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MVK

Flow Cytometry Products

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 (x4.1).

Protein differential expression in normal tissues from HIPED for MVK Gene

This gene is overexpressed in Fetal testis (11.5), Breast (8.9), Bone (8.8), and Testis (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MVK Gene



Protein tissue co-expression partners for MVK Gene

NURSA nuclear receptor signaling pathways regulating expression of MVK Gene:

MVK

SOURCE GeneReport for Unigene cluster for MVK Gene:

Hs.130607
genes like me logo Genes that share expression patterns with MVK: view

Primer Products

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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia MVK 34 35
  • 85.44 (n)
cow
(Bos Taurus)
Mammalia MVK 34 35
  • 84.34 (n)
rat
(Rattus norvegicus)
Mammalia Mvk 34
  • 83.38 (n)
mouse
(Mus musculus)
Mammalia Mvk 34 16 35
  • 82.1 (n)
oppossum
(Monodelphis domestica)
Mammalia MVK 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 53 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 65 (a)
OneToMany
MVK 34
  • 64.69 (n)
-- 35
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mvk 34
  • 60.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16053 34
zebrafish
(Danio rerio)
Actinopterygii mvk 34 35
  • 59.18 (n)
Dr.14909 34
fruit fly
(Drosophila melanogaster)
Insecta CG33671 35
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mvk-1 34 35
  • 46.36 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER335W 34
  • 49.44 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07469g 34
  • 46.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG12 34 35 37
  • 44.47 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MK 34
  • 48.49 (n)
rice
(Oryza sativa)
Liliopsida Os10g0329300 34
  • 48.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03633 34
  • 48.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg12 34
  • 42.49 (n)
Species where no ortholog for MVK was found in the sources mined by GeneCards:
  • 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

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
rs104895295 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920], Mevalonic aciduria (MEVA) [MIM:610377], Pathogenic 109,574,881(+) AGAAC(A/C)TGCCG upstream-variant-2KB, reference, missense
rs104895296 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920], untested 109,576,035(+) ATTCC(C/T)CCGGC reference, missense
rs104895297 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920], untested 109,581,427(+) GTGGT(C/T)GGAGC intron-variant, reference, missense
rs104895298 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920], Pathogenic 109,581,465(+) GCGCC(A/G)CCTAC intron-variant, reference, missense
rs104895300 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920], Pathogenic 109,581,523(+) AAACC(C/T)GCTGA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv3630719 CNV gain 21293372
esv3630722 CNV gain 21293372
esv3630723 CNV gain 21293372
nsv560118 CNV loss 21841781

Variation tolerance for MVK Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MVK Gene

Human Gene Mutation Database (HGMD)
MVK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MVK

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

Disorders for MVK Gene

MalaCards: The human disease database

(21) MalaCards diseases for MVK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mevalonic aciduria
  • mevalonate kinase deficiency
hyper-igd syndrome
  • hyper igd syndrome
porokeratosis 3, disseminated superficial actinic
  • porokeratosis, disseminated superficial actinic 1
porokeratosis
  • disseminated superficial actinic porokeratosis
porokeratosis of mibelli
- elite association - COSMIC cancer census association via MalaCards
Search MVK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIME_HUMAN
  • 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.
  • 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.
  • Porokeratosis 3, multiple types (POROK3) [MIM:175900]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269 PubMed:22983302, ECO:0000269 PubMed:24781643}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MVK

Genetic Association Database (GAD)
MVK
Human Genome Epidemiology (HuGE) Navigator
MVK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MVK
genes like me logo Genes that share disorders with MVK: view

No data available for Genatlas for MVK Gene

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 22 64
  2. Autoinflammatory gene mutations in BehAset's disease. (PMID: 17213252) KonAc-Paut I. … Touitou I. (Ann. Rheum. Dis. 2007) 3 22 46 64
  3. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. (PMID: 15536479) D'Osualdo A. … Ceccherini I. (Eur. J. Hum. Genet. 2005) 3 4 22 64
  4. Mevalonate kinase is a cytosolic enzyme in humans. (PMID: 14730012) Hogenboom S. … Waterham H.R. (J. Cell Sci. 2004) 3 4 22 64
  5. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. (PMID: 12634869) Houten S.M. … Waterham H.R. (Eur. J. Hum. Genet. 2003) 3 22 46 64

Products for MVK Gene

Sources for MVK Gene

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