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MVK mevalonate kinase [ Homo sapiens (human) ]

Gene ID: 4598, updated on 2-Nov-2024

Summary

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Official Symbol
MVKprovided by HGNC
Official Full Name
mevalonate kinaseprovided by HGNC
Primary source
HGNC:HGNC:7530
See related
Ensembl:ENSG00000110921 MIM:251170; AllianceGenome:HGNC:7530
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MK; LRBP; MVLK; POROK3
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 9.3), liver (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

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See MVK in Genome Data Viewer
Location:
12q24.11
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109573272..109598125)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109548171..109573017)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110011599..110035930)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109976965-109977466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109978915-109979477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109995443-109995944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109999353-109999852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110001138-110001638 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110010699-110011200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110011201-110011700 Neighboring gene RNA, U4 small nuclear 32, pseudogene Neighboring gene metabolism of cobalamin associated B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110036333-110037022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110049030-110049530 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110105927-110106096 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110108888-110110087 Neighboring gene RN7SK pseudogene 250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110133637-110134446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110150092-110150655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110164162-110164872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110169301-110169801 Neighboring gene family with sequence similarity 222 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110174581-110175080 Neighboring gene FAM222A antisense RNA 1 Neighboring gene HNF1 motif-containing MPRA enhancer 206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110177165-110177666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110177667-110178166

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Siemiatkowska AM, et al. Ophthalmology, 2013 Dec. PMID 24084495
  2. A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia. Samkari A, et al. Pediatrics, 2010 Apr. PMID 20194276
  3. The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency. Marcuzzi A, et al. Pediatr Res, 2011 Jul. PMID 21430599
  4. Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype. Politiek FA, et al. Front Immunol, 2024. PMID 38550596, Free PMC Article
  5. Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children. Lainka E, et al. Rheumatol Int, 2012 Oct. PMID 22038276

See all (122) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
    Title: Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
  2. A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis.
    Title: A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis.
  3. Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
    Title: Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
  4. Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
    Title: Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
  5. Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
    Title: Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
  6. Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
    Title: Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
  7. Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.
    Title: Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.
  8. Patients with disseminated superficial actinic porokeratosis (DSAP) and linear porokeratosis (LP) exhibit monoallelic germline mutations in genes encoding mevalonate pathway enzymes, such as MVD or MVK
    Title: Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
  9. In this study, we discussed the clinical effects of eight different variants we have detected in the MVK, TNFRSF1A and NLRP3 genes. Four of them were previously identified in patients with Periodic fever syndromes
    Title: Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes.
  10. In rare cases, periodic fever and inflammatory symptoms in adults can be attributed to mutations in NLRP3, MVK and TNFRSF1A.
    Title: Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.
Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hyperimmunoglobulin D with periodic fever
MedGen: C0398691 OMIM: 260920 GeneReviews: Not available
Compare labs
Mevalonic aciduria
MedGen: C1959626 OMIM: 610377 GeneReviews: Not available
Compare labs
Porokeratosis 3, disseminated superficial actinic type
MedGen: C1867981 OMIM: 175900 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
EBI GWAS Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of mevalonate kinase (MVK) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ96772

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables mevalonate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mevalonate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables mevalonate kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in isopentenyl diphosphate biosynthetic process, mevalonate pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in isopentenyl diphosphate biosynthetic process, mevalonate pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in isoprenoid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
NOT located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
mevalonate kinase
Names
LH receptor mRNA-binding protein
mevalonate kinase 1
NP_000422.1
NP_001107657.1
NP_001288111.1
NP_001401440.1
NP_001401441.1
NP_001401442.1
NP_001401443.1
NP_001401444.1
XP_016874802.1
XP_016874803.1
XP_047284829.1
XP_054228064.1
XP_054228065.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007702.1 RefSeqGene

    Range
    5001..28576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_156

mRNA and Protein(s)

  1. NM_000431.4 → NP_000422.1  mevalonate kinase isoform a

    See identical proteins and their annotated locations for NP_000422.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, and 4 all encode the same isoform (a).
    Source sequence(s)
    AC007570, BC016140, DC421549, M88468, R51202
    Consensus CDS
    CCDS9132.1
    UniProtKB/Swiss-Prot
    Q03426
    UniProtKB/TrEMBL
    B2RDU6, Q59ET9
    Related
    ENSP00000228510.3, ENST00000228510.8
    Conserved Domains (1) summary
    cl40731
    Location:10 → 379
    PLN02677; mevalonate kinase

  2. NM_001114185.3 → NP_001107657.1  mevalonate kinase isoform a

    See identical proteins and their annotated locations for NP_001107657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 4 all encode the same isoform (a).
    Source sequence(s)
    AC007570, BC016140, DC421549, R51202
    Consensus CDS
    CCDS9132.1
    UniProtKB/Swiss-Prot
    Q03426
    UniProtKB/TrEMBL
    B2RDU6, Q59ET9
    Related
    ENSP00000490869.1, ENST00000636996.1
    Conserved Domains (1) summary
    cl40731
    Location:10 → 379
    PLN02677; mevalonate kinase

  3. NM_001301182.2 → NP_001288111.1  mevalonate kinase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC007570, AK295338, BC016140, DC421549, R51202
    Consensus CDS
    CCDS73522.1
    UniProtKB/TrEMBL
    B7Z301, F5H8H2
    Related
    ENSP00000376487.3, ENST00000392727.7
    Conserved Domains (1) summary
    PLN02677
    Location:10 → 327
    PLN02677; mevalonate kinase

  4. NM_001414511.1 → NP_001401440.1  mevalonate kinase isoform a

    Status: REVIEWED

    Source sequence(s)
    AC007570
    UniProtKB/Swiss-Prot
    Q03426
    UniProtKB/TrEMBL
    B2RDU6

  5. NM_001414512.1 → NP_001401441.1  mevalonate kinase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC007570

  6. NM_001414513.1 → NP_001401442.1  mevalonate kinase isoform d

    Status: REVIEWED

    Source sequence(s)
    AC007570

  7. NM_001414514.1 → NP_001401443.1  mevalonate kinase isoform e

    Status: REVIEWED

    Source sequence(s)
    AC007570

  8. NM_001414515.1 → NP_001401444.1  mevalonate kinase isoform f

    Status: REVIEWED

    Source sequence(s)
    AC007570
    UniProtKB/TrEMBL
    B7Z1C2

RNA

  1. NR_182758.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007570

  2. NR_182759.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007570

  3. NR_182760.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007570

  4. NR_182762.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007570

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    109573272..109598125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428873.1 → XP_047284829.1  mevalonate kinase isoform X1

  2. XM_017019313.3 → XP_016874802.1  mevalonate kinase isoform X2

    UniProtKB/TrEMBL
    B7Z301, F5H8H2
    Conserved Domains (1) summary
    PLN02677
    Location:10 → 327
    PLN02677; mevalonate kinase

  3. XM_017019314.2 → XP_016874803.1  mevalonate kinase isoform X3

    UniProtKB/Swiss-Prot
    Q03426
    UniProtKB/TrEMBL
    B2RDU6, Q59ET9
    Conserved Domains (1) summary
    cl40731
    Location:10 → 379
    PLN02677; mevalonate kinase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    109548171..109573017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372089.1 → XP_054228064.1  mevalonate kinase isoform X1

  2. XM_054372090.1 → XP_054228065.1  mevalonate kinase isoform X2

    UniProtKB/TrEMBL
    F5H8H2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q03426.1 GenPept UniProtKB/Swiss-Prot:Q03426

Gene LinkOut

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