Version: 8.0.0
Date: Tue Jan 28 2025
Npl
Mus musculusMGI:1921341
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Npl

Species
Mus musculus
Symbol
Npl
Name
N-acetylneuraminate pyruvate lyase
Synonyms
  • 0610033B02Rik
  • RIKEN cDNA 0610033B02 gene
Biotype
protein coding gene
Automated Description
Enables N-acetylneuraminate lyase activity. Predicted to be involved in N-acetylneuraminate catabolic process. Predicted to be located in cytoplasm. Is expressed in early embryo; eye; and nervous system. Orthologous to human NPL (N-acetylneuraminate pyruvate lyase).
MGI Description
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. Homozygosity for the p.R63C mutation or KO leads to impaired mitochondrial respiration, leading to reduced skeletal muscle strength, endurance and regeneration capacity. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12128
No data available
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
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      Variant type
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            Data currently unavailable; sequence viewer under construction

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Npl molecule type
            Interactor gene
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            Interactor molecule type
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              Genetic Interactions

              Npl role
              Npl genetic perturbation
              Interactor gene
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              Interactor genetic perturbation
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