Version: 8.0.0
Date: Tue Jan 28 2025
Ppt1
Mus musculusMGI:1298204
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Ppt1

Species
Mus musculus
Symbol
Ppt1
Name
palmitoyl-protein thioesterase 1
Synonyms
  • 9530043G02Rik
  • AA960502
Biotype
protein coding gene
Automated Description
Enables palmitoyl-(protein) hydrolase activity. Acts upstream of or within several processes, including grooming behavior; protein depalmitoylation; and regulation of phospholipase A2 activity. Located in several cellular components, including dendrite; lysosome; and neuronal cell body. Is active in presynaptic cytosol and synaptic vesicle membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study neuronal ceroid lipofuscinosis 1 and neuronal ceroid lipofuscinosis 3. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 1. Orthologous to human PPT1 (palmitoyl-protein thioesterase 1).
MGI Description
PHENOTYPE: Homozygotes for a null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age. Retinal degeneration phenotypes are oberserved in mice homozygous for a null allele. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11247
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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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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      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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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

          Ppt1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Ppt1 role
            Ppt1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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