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    MVK mevalonate kinase [ Homo sapiens (human) ]

    Gene ID: 4598, updated on 10-Dec-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
    mouse all
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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

    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)

    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 
    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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    NEW Try the new Transcript table

    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, Q59ET9

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

      Status: REVIEWED

      Source sequence(s)
      AC007570
      UniProtKB/TrEMBL
      Q59ET9

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

      Status: REVIEWED

      Source sequence(s)
      AC007570
      UniProtKB/TrEMBL
      Q59ET9

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

      Status: REVIEWED

      Source sequence(s)
      AC007570
      UniProtKB/TrEMBL
      B7Z301

    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

      UniProtKB/TrEMBL
      Q59ET9

    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

      UniProtKB/TrEMBL
      Q59ET9

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

      UniProtKB/TrEMBL
      B7Z301, F5H8H2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03426.1 GenPept UniProtKB/Swiss-Prot:Q03426

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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