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    Mvk mevalonate kinase [ Mus musculus (house mouse) ]

    Gene ID: 17855, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Mvkprovided by MGI
    Official Full Name
    mevalonate kinaseprovided by MGI
    Primary source
    MGI:MGI:107624
    See related
    Ensembl:ENSMUSG00000041939 AllianceGenome:MGI:107624
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MK; 2310010A05Rik
    Summary
    This gene encodes mevalonate kinase, a key enzyme involved in the biosynthesis of cholesterol and non-sterol isoprenes. The complete lack of encoded protein is lethal to mouse embryos. Mice lacking one allele of this gene exhibit increased levels of mevalonate in spleen, heart and kidney, as well as increased levels of serum immunoglobulins A and D. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 27.8), stomach adult (RPKM 25.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mvk in Genome Data Viewer
    Location:
    5 F; 5 55.99 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (114582324..114598652)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (114444264..114460591)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3B Neighboring gene microRNA 7027 Neighboring gene STARR-positive B cell enhancer ABC_E278 Neighboring gene methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:114932816-114933017 Neighboring gene predicted gene, 34722 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:114955346-114955597 Neighboring gene STARR-seq mESC enhancer starr_14074 Neighboring gene predicted gene 13790

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Investigation of invariant serine/threonine residues in mevalonate kinase. Tests of the functional significance of a proposed substrate binding motif and a site implicated in human inherited disease. Cho YK, et al. J Biol Chem, 2001 Apr 20. PMID 11278915
    2. Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. Hager EJ, et al. J Inherit Metab Dis, 2007 Nov. PMID 18008182
    3. Knockdown of MVK does not lead to changes in NALP3 expression or activation. Celsi F, et al. J Inflamm (Lond), 2015. PMID 25663823, Free PMC Article
    4. Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). Hager EJ, et al. J Inherit Metab Dis, 2012 Jan. PMID 21607759, Free PMC Article
    5. Structure of the Methanococcus jannaschii mevalonate kinase, a member of the GHMP kinase superfamily. Yang D, et al. J Biol Chem, 2002 Mar 15. PMID 11751891

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. analyis of the aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome
      Title: Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS).
    2. PTH stimulated BMP-2 mRNA expression via the mevalonate pathway and ROK in osteoblastic MC3T3-E1 cells
      Title: Parathyroid hormone upregulates BMP-2 mRNA expression through mevalonate kinase and Rho kinase inhibition in osteoblastic MC3T3-E1 cells.
    3. a mevalonate kinase (Mvk) allele deletion yields a murine model of hyper-IgD syndrome
      Title: Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables mRNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables sequence-specific mRNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 isopentenyl diphosphate biosynthetic process, mevalonate pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in isoprenoid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of inflammatory response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of translation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    mevalonate kinase
    NP_001293134.1
    NP_076045.1
    XP_006530246.1
    XP_006530248.1

    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.

    mRNA and Protein(s)

    1. NM_001306205.2 → NP_001293134.1  mevalonate kinase isoform 1

      See identical proteins and their annotated locations for NP_001293134.1

      Status: REVIEWED

      Source sequence(s)
      AC132102
      Consensus CDS
      CCDS80373.1
      UniProtKB/TrEMBL
      Q3UEB4
      Related
      ENSMUSP00000107858.3, ENSMUST00000112239.9
      Conserved Domains (1) summary
      PLN02677
      Location:10 → 389
      PLN02677; mevalonate kinase

    2. NM_001428530.1 → NP_001415459.1  mevalonate kinase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC132102
      UniProtKB/TrEMBL
      Q3UEB4

    3. NM_001428531.1 → NP_001415460.1  mevalonate kinase isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC132102
      UniProtKB/Swiss-Prot
      Q9R008

    4. NM_001428532.1 → NP_001415461.1  mevalonate kinase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC132102

    5. NM_001428533.1 → NP_001415462.1  mevalonate kinase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC132102

    6. NM_001428534.1 → NP_001415463.1  mevalonate kinase isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC132102

    7. NM_001428535.1 → NP_001415464.1  mevalonate kinase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC132102

    8. NM_001428536.1 → NP_001415465.1  mevalonate kinase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC132102

    9. NM_001428537.1 → NP_001415466.1  mevalonate kinase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC132102
      UniProtKB/TrEMBL
      A0A0G2JFX8, D3YV77

    10. NM_001428538.1 → NP_001415467.1  mevalonate kinase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC132102
      UniProtKB/TrEMBL
      A0A0G2JFX8, D3YV77

    11. NM_001428539.1 → NP_001415468.1  mevalonate kinase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC132102
      UniProtKB/TrEMBL
      A0A0G2JEG0, D3YV77

    12. NM_001428540.1 → NP_001415469.1  mevalonate kinase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC132102
      UniProtKB/TrEMBL
      A0A0G2JEG0, D3YV77

    13. NM_023556.4 → NP_076045.1  mevalonate kinase isoform 2

      See identical proteins and their annotated locations for NP_076045.1

      Status: REVIEWED

      Source sequence(s)
      AC132102
      Consensus CDS
      CCDS19566.1
      UniProtKB/Swiss-Prot
      Q9R008
      Related
      ENSMUSP00000036971.9, ENSMUST00000043760.15
      Conserved Domains (1) summary
      PLN02677
      Location:10 → 377
      PLN02677; mevalonate kinase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      114582324..114598652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530183.4 → XP_006530246.1  mevalonate kinase isoform X1

      Conserved Domains (1) summary
      PLN02677
      Location:10 → 389
      PLN02677; mevalonate kinase

    2. XM_006530185.5 → XP_006530248.1  mevalonate kinase isoform X2

      Conserved Domains (1) summary
      PLN02677
      Location:10 → 377
      PLN02677; mevalonate kinase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R008.1 GenPept UniProtKB/Swiss-Prot:Q9R008

    Gene LinkOut

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