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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

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. 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

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