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Mvk mevalonate kinase [ Mus musculus (house mouse) ]

Gene ID: 17855, updated on 3-Apr-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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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. 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
  2. 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
  3. 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
  4. 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
  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 (41) 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 identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables mRNA binding ISO
Inferred from Sequence Orthology
more info
  
enables magnesium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
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 nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific mRNA binding ISO
Inferred from Sequence Orthology
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cholesterol metabolic process IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in isoprenoid biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
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
  
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within sterol biosynthetic process IEA
Inferred from Electronic Annotation
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
  

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 1

    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 4

    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

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

    Status: REVIEWED

    Source sequence(s)
    AC132102
    UniProtKB/TrEMBL
    A0A0G2JFX8

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

    Status: REVIEWED

    Source sequence(s)
    AC132102
    UniProtKB/TrEMBL
    A0A0G2JEG0

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

    Status: REVIEWED

    Source sequence(s)
    AC132102
    UniProtKB/TrEMBL
    A0A0G2JEG0

  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

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