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FLASH GENE
Symbol PPT1 contributors: mct - updated : 28-06-2016
HGNC name palmitoyl-protein thioesterase 1
HGNC id 9325
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Nervousbrain    
Respiratorylung   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
Muscularstriatumcardiac  
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text lung, brain, heart
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • signal peptide
  • 3N linked glycosylation sites
  • consensus motifs characteristic of thioesterase
  • conjugated GlycoP , PhosphoP
    HOMOLOGY
    Homologene
    FAMILY
  • palmitoyl-protein thioesterase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    text
  • lysosomal in neuronal and non-neuronal tissues
  • synaptosomes and synaptic vesicles (at least in mouse)
  • basic FUNCTION
  • involved in synaptic reorganization and/or plasticy
  • catabolism of lipid-modified proteins hydrolizing thioesters bonds that link fatty acids to cysteine residues in S-fatty acylated proteins
  • involved in the degradation of fatty-acetylated proteins in the lysosome
  • maybe also associated with the synaptic function in brain and may protect neurons from excitotoxicity (in status epilepticus)
  • cleaving thioester linkages in S-acylated proteins and removing palmitate residues facilitating the degradation of these proteins
  • essential for proper neuronal cell fates and organization, and to establish the local environment for proper axon guidance and fasciculation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CASP4
  • PPT2 proteins complement each other with respect to growth and apoptosis
  • interaction partner for PPT1, the F1-complex of the mitochondrial ATP synthase
  • binding of CLN5 to CLN1/PPT1 is suggested to be the most significant one, since over-expression of PPT1 was shown to influence on the intracellular trafficking of mutated CLN5, and they were shown to share a binding partner outside the NCL protein spectrum
  • ZDHHC5 and ZDHHC23 catalyze PPT1 S-palmitoylation
  • cell & other
    REGULATION
    activated by CASP4 (endoplasmic reticulum stress-induced CASP4 activation mediates apoptosis and neurodegeneration in PPT1)
    ASSOCIATED DISORDERS
    corresponding disease(s) CLN1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismlysosome 
    inhibition of caspase-4 activity protects PPT1 cells from undergoing apoptosis and from abnormal intracellular accumulation of fatty-acylated proteins and peptides leading to PPT1 pathogenesis
    metabolismlysosome 
    a source of recombinant PPT1 will also be useful for exploring alternative delivery methods, such as injection into brain ventricles, chemical modifications or chronic high-dose therapy
    metabolismlysosome 
    Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis
    ANIMAL & CELL MODELS
    knockout mice with neuronal ceroid lipofuscinosis