Version: 8.0.0
Date: Tue Jan 28 2025
PPT1
Homo sapiensHGNC:9325
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

PPT1

Species
Homo sapiens
Symbol
PPT1
Name
palmitoyl-protein thioesterase 1
Synonyms
  • ceroid-palmitoyl-palmitoyl-protein thioesterase 1
  • CLN1
Biotype
protein coding gene
Automated Description
Enables lysophosphatidic acid binding activity; sulfatide binding activity; and thiolester hydrolase activity. Involved in several processes, including lysosomal lumen acidification; negative regulation of toll-like receptor 9 signaling pathway; and positive regulation of endocytosis. Acts upstream of or within pinocytosis and receptor-mediated endocytosis. Located in several cellular components, including lysosome; membrane raft; and synaptic vesicle. Is active in lysosomal membrane. Implicated in neuronal ceroid lipofuscinosis 1.
RGD Description
The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
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
None
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
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          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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