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FLASH GENE
Symbol PPT1 contributors: mct - updated : 28-06-2013
HGNC name palmitoyl-protein thioesterase 1
HGNC id 9325
Corresponding disease
CLN1 ceroid-lipofuscinosis, neuronal, 1
Location 1p34.2      Physical location : 40.538.381 - 40.563.142
Synonym name
  • palmitoyl-protein hydrolase 1
  • ceroid-palmitoyl-palmitoyl-protein thioesterase 1
  • Synonym symbol(s) CLN1, PTE, PPT
    EC.number 3.1.2.22
    DNA
    TYPE functioning gene
    STRUCTURE 24.76 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   ALU
    MAPPING cloned Y linked N status confirmed
    Physical map
    BMP8A 1p34.2 bone morphogenetic protein 8a OXCT2P 1p34.2 3-oxoacid CoA transferase 2 pseudogene FLJ14351 1p34.2 hypothetical protein FLJ14351 PABPC4 1p36-p32 poly(A) binding protein, cytoplasmic 4 (inducible form) HEYL 1p34.3 hairy/enhancer-of-split related with YRPW motif-like NT5C1A 1p34.3-p33 5'-nucleotidase, cytosolic IA HPCAL4 1p34.2 hippocalcin like 4 PPIE 1p32 peptidylprolyl isomerase E (cyclophilin E) BMP8B 1p35-p32 bone morphogenetic protein 8 b(osteogenic protein 2) OXCT2 1p34 3-oxoacid CoA transferase 2 IPT 1p35.3-p34.1 3-oxoacid CoA transferase 2 MYCL1 1p34.2 v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) FLJ14490 1p34.2 hypothetical protein FLJ14490 CAP1 1p34.2 CAP, adenylate cyclase-associated protein 1 (yeast) PPT1 1p32 palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) RLF 1p32 rearranged L-myc fusion sequence LOC127391 1p34.2 similar to dJ39G22.2 (novel protein) ZMPSTE24 1p34.1-p33 zinc metalloproteinase (STE24 homolog, yeast) COL9A2 1p33-p32.3 collagen, type IX, alpha 2 LOC388621 1 similar to 60S ribosomal protein L21 LOC391028 1 similar to Csa-19 LOC64744 1p35.3-p34.1 hypothetical protein AL133206 LOC65243 1p34.2 hypothetical protein LOC65243 FLJ16030 1p34.2 FLJ16030 protein FLJ21144 1p34.2 hypothetical protein FLJ21144 MGC27466 1p34.2 hypothetical protein MGC27466 LOC391029 1 similar to General transcription factor IIF, polypeptide 2 RIMS3 1pter-p22.2 regulating synaptic membrane exocytosis 3 NFYC 1p32 nuclear transcription factor Y, gamma KCNQ4 1p34 potassium voltage-gated channel, KQT-like subfamily, member 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2195 - 203 - -
    9 - 2504 34.2 306 - 2007 17261688
    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
  • 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