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Description for Protein ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.4.1; 3.6.1.9
    KEGG - Orthology:
    K01113
    K01513
    KEGG - Pathway(s):
    hsa00230; hsa00500; hsa00740; hsa00760; hsa00770; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Ectonucleotide pyrophosphatase/phosphodiesterase 1; Phosphodiesterase I/nucleotide pyrophosphatase 1; PDNP1; Plasma cell membrane glycoprotein PC1; PC1; PCA; Membrane component chromosome 6 surface marker 1; M6S1; NPPS
    Approved Symbol:
    ENPP1
    (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):

  • Amifostine(db);
  • Ribavirin(db)

    Associated Genetic Diseases:

  • Arterial calcification, generalized, of infancy(Pd);
  • Diabetes mellitus, noninsulin-dependent, susceptibility to(Pd);
  • Insulin resistance, susceptibility to(Pd);
  • Obesity, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01415 Entrez Gene ID: 5167 OMIM ID: 173335 Swissprot Accession: P22413;