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    MVK mevalonate kinase [ Homo sapiens (human) ]

    Gene ID: 4598, updated on 11-Jun-2021

    Summary

    Official Symbol
    MVKprovided by HGNC
    Official Full Name
    mevalonate kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:7530
    See related
    Ensembl:ENSG00000110921 MIM:251170
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See MVK in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (109573461..109598125)
    105.20201022 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 RNA, U4 small nuclear 32, pseudogene Neighboring gene metabolism of cobalamin associated B Neighboring gene RN7SK pseudogene 250 Neighboring gene family with sequence similarity 222 member A Neighboring gene FAM222A antisense RNA 1 Neighboring gene HNF1 motif-containing MPRA enhancer 206

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Biological, clinical and population relevance of 95 loci for blood lipids.
    GeneReviews: Not available
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    GeneReviews: Not available
    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
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    GeneReviews: Not available
    Porokeratosis 3, disseminated superficial actinic type
    MedGen: C1867981 OMIM: 175900 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

    Preferred Names
    mevalonate kinase
    Names
    LH receptor mRNA-binding protein
    mevalonate kinase 1
    NP_000422.1
    NP_001107657.1
    NP_001288111.1
    XP_016874802.1
    XP_016874803.1
    XP_024304750.1

    NCBI Reference Sequences (RefSeq)

    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_000431.4NP_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) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC007570, BC016140, DC421549, M88468, R51202
      Consensus CDS
      CCDS9132.1
      UniProtKB/Swiss-Prot
      Q03426
      UniProtKB/TrEMBL
      B2RDU6
      Related
      ENSP00000228510.3, ENST00000228510.8
      Conserved Domains (1) summary
      cl27720
      Location:10379
      GHMP_kinases_N; GHMP kinases N terminal domain
    2. NM_001114185.3NP_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 and 2 encode the same isoform (a).
      Source sequence(s)
      AC007570, BC016140, DC421549, R51202
      Consensus CDS
      CCDS9132.1
      UniProtKB/Swiss-Prot
      Q03426
      UniProtKB/TrEMBL
      B2RDU6
      Conserved Domains (1) summary
      cl27720
      Location:10379
      GHMP_kinases_N; GHMP kinases N terminal domain
    3. NM_001301182.2NP_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/Swiss-Prot
      Q03426
      UniProtKB/TrEMBL
      B7Z301, F5H8H2
      Related
      ENSP00000376487.3, ENST00000392727.7
      Conserved Domains (1) summary
      PLN02677
      Location:10327
      PLN02677; mevalonate kinase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      109573461..109598125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448982.1XP_024304750.1  mevalonate kinase isoform X1

      Conserved Domains (1) summary
      cl27720
      Location:10302
      GHMP_kinases_N; GHMP kinases N terminal domain
    2. XM_017019313.2XP_016874802.1  mevalonate kinase isoform X2

      UniProtKB/TrEMBL
      F5H8H2
      Conserved Domains (1) summary
      PLN02677
      Location:10327
      PLN02677; mevalonate kinase
    3. XM_017019314.1XP_016874803.1  mevalonate kinase isoform X3

      UniProtKB/Swiss-Prot
      Q03426
      UniProtKB/TrEMBL
      B2RDU6
      Related
      ENSP00000490869.1, ENST00000636996.1
      Conserved Domains (1) summary
      cl27720
      Location:10379
      GHMP_kinases_N; GHMP kinases N terminal domain
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