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    Pmvk phosphomevalonate kinase [ Mus musculus (house mouse) ]

    Gene ID: 68603, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Pmvkprovided by MGI
    Official Full Name
    phosphomevalonate kinaseprovided by MGI
    Primary source
    MGI:MGI:1915853
    See related
    Ensembl:ENSMUSG00000027952 AllianceGenome:MGI:1915853
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PMK; PMKA; PMKASE; 1110011E12Rik; 2900002L22Rik
    Summary
    Enables phosphomevalonate kinase activity. Predicted to be involved in cholesterol biosynthetic process and isopentenyl diphosphate biosynthetic process, mevalonate pathway. Predicted to act upstream of or within cholesterol metabolic process; phosphorylation; and steroid biosynthetic process. Predicted to be located in cytosol. Is expressed in early conceptus. Human ortholog(s) of this gene implicated in porokeratosis. Orthologous to human PMVK (phosphomevalonate kinase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver adult (RPKM 24.0), liver E18 (RPKM 22.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    3 F1; 3 39.13 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (89361848..89376321)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (89454541..89469014)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2080 Neighboring gene STARR-positive B cell enhancer ABC_E9557 Neighboring gene STARR-positive B cell enhancer ABC_E6071 Neighboring gene STARR-positive B cell enhancer ABC_E2081 Neighboring gene pygopus 2 Neighboring gene pre B cell leukemia transcription factor interacting protein 1 Neighboring gene potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 Neighboring gene STARR-seq mESC enhancer starr_08246 Neighboring gene STARR-seq mESC enhancer starr_08247 Neighboring gene STARR-seq mESC enhancer starr_08249 Neighboring gene STARR-positive B cell enhancer ABC_E4555 Neighboring gene adenosine deaminase, RNA-specific Neighboring gene cholinergic receptor nicotinic beta 2 subunit

    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. Maf links Neuregulin1 signaling to cholesterol synthesis in myelinating Schwann cells. Kim M, et al. Genes Dev, 2018 May 1. PMID 29748249, Free PMC Article
    2. Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. Hogenboom S, et al. J Lipid Res, 2002 Jan. PMID 11792727
    3. Transcription profile in mouse four-cell, morula, and blastocyst: Genes implicated in compaction and blastocoel formation. Cui XS, et al. Mol Reprod Dev, 2007 Feb. PMID 16998848
    4. The E3 ubiquitin ligase Siah1 regulates adrenal gland organization and aldosterone secretion. Scortegagna M, et al. JCI Insight, 2017 Dec 7. PMID 29212953, Free PMC Article
    5. SMAD4 target genes are part of a transcriptional network that integrates the response to BMP and SHH signaling during early limb bud patterning. Gamart J, et al. Development, 2021 Dec 1. PMID 34822715, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphomevalonate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphomevalonate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphomevalonate kinase activity 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
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    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
    		  
    involved_in sterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    phosphomevalonate kinase
    NP_001297569.1
    NP_081060.2
    NP_081624.1
    XP_030108640.1

    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_001310640.1 → NP_001297569.1  phosphomevalonate kinase isoform 3

      See identical proteins and their annotated locations for NP_001297569.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      BC028659
      Consensus CDS
      CCDS79953.1
      UniProtKB/Swiss-Prot
      Q9D1G2
      Related
      ENSMUSP00000143154.2, ENSMUST00000198440.5
      Conserved Domains (1) summary
      cl04466
      Location:1 → 114
      P-mevalo_kinase; Phosphomevalonate kinase

    2. NM_026784.3 → NP_081060.2  phosphomevalonate kinase isoform 1

      See identical proteins and their annotated locations for NP_081060.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK003607, AK150483, AW492322, BY266316
      Consensus CDS
      CCDS17511.1
      UniProtKB/Swiss-Prot
      Q8R021, Q9D1G2, Q9D6K3
      UniProtKB/TrEMBL
      Q3THA3
      Related
      ENSMUSP00000029564.6, ENSMUST00000029564.12
      Conserved Domains (1) summary
      pfam04275
      Location:14 → 123
      P-mevalo_kinase; Phosphomevalonate kinase

    3. NM_027348.1 → NP_081624.1  phosphomevalonate kinase isoform 2

      See identical proteins and their annotated locations for NP_081624.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC171273, AK013477, AK150483, AW492322
      Consensus CDS
      CCDS71270.1
      UniProtKB/TrEMBL
      Q3THA3
      Related
      ENSMUSP00000139116.2, ENSMUST00000184515.2
      Conserved Domains (1) summary
      pfam04275
      Location:11 → 102
      P-mevalo_kinase; Phosphomevalonate 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_000069.7 Reference GRCm39 C57BL/6J

      Range
      89361848..89376321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252780.2 → XP_030108640.1  phosphomevalonate kinase isoform X1

      Conserved Domains (1) summary
      cl04466
      Location:1 → 114
      P-mevalo_kinase; Phosphomevalonate kinase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D1G2.3 GenPept UniProtKB/Swiss-Prot:Q9D1G2

    Gene LinkOut

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

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