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Description for Protein PPT1

palmitoyl-protein thioesterase 1
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 4)
Summary:
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. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.2.22
    KEGG - Orthology:
    K01074
    KEGG - Pathway(s):
    hsa00062; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Palmitoyl protein thioesterase; Palmitoyl protein hydrolase 1; PPT; CLN1; INCL
    Approved Symbol:
    PPT1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • 1-Hexadecylsulfonyl Fluoride(db);
  • Palmitic Acid(db)

    Associated Genetic Diseases:

  • Ceroid lipofuscinosis, neuronal, 1(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07203 Entrez Gene ID: 5538 OMIM ID: 600722 Swissprot Accession: P50897; Q6FGQ4; B4DY24;