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Description for Protein SERPINC1

serpin peptidase inhibitor, clade C (antithrombin), member 1
6 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/1)
(alpha granules: 1; platelet: 1; secretome: 2; undefined: 1)
Summary:
The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • SERPIN: SERine Proteinase INhibitors
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K03911
    KEGG - Pathway(s):
    hsa04610
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    AT-III; AT3; SERPINC1 Serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
    Approved Symbol:
    SERPINC1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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):

  • Alpha-D-Mannose(db);
  • Ardeparin(db);
  • Enoxaparin(db);
  • Fondaparinux sodium(db);
  • Heparin(db);
  • Heparin Pentasaccharide(db);
  • N-Formylmethionine(db);
  • Sulodexide(db)

    Associated Genetic Diseases:

  • Antithrombin 3 deficiency(Pd);
  • Antithrombin deficiency(Pd);
  • At-III Avranches(Pd);
  • At-III Barcelona(Pd);
  • At-III Barcelona 2(Pd);
  • At-III Basel(Pd);
  • At-III Budapest(Pd);
  • At-III Budapest 3(Pd);
  • At-III Cambridge II(Pd);
  • At-III Charleville(Pd);
  • At-III Clichy(Pd);
  • At-III deficiency(Pd);
  • At-III Denver(Pd);
  • At-III Dublin(Pd);
  • At-III Fontainbleau(Pd);
  • At-III Glasgow(Pd);
  • At-III Hamilton(Pd);
  • At-III Nagasaki(Pd);
  • At-III Northwick Park(Pd);
  • At-III Oslo(Pd);
  • At-III Padua 2(Pd);
  • At-III Paris(Pd);
  • At-III Pescara(Pd);
  • At-III Roma(Pd);
  • At-III Rouen I(Pd);
  • At-III Rouen III(Pd);
  • At-III Rouen III(Pd);
  • At-III Rouen iv(Pd);
  • At-III Rouen VI(Pd);
  • At-III Stockholm(Pd);
  • At-III Toyama(Pd);
  • At-III Trento(Pd);
  • At-III Utah(Pd);
  • Thrombophilia due to antithrombin III deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00122 Entrez Gene ID: 462 OMIM ID: 107300 Swissprot Accession: P01008;