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Description for Protein SERPING1

serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
10 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(platelet: 2; secretome: 1)
Summary:
This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [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:
    K04001
    KEGG - Pathway(s):
    hsa04610
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    HAE1; HAE2; Serpin peptidase inhibitor clade G member 1; Complement component 1 inhibitor; C1 inhibitor; C1NH; C1I; C1INH; Serine proteinase inhibitor clade G member 1; C1 esterase inhibitor
    Approved Symbol:
    SERPING1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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):

    None Available

    Associated Genetic Diseases:

  • Angioedema, hereditary, autosomal recessive(Pd);
  • Angioedema, hereditary, type I(Pd);
  • Angioedema, hereditary, type II(Pd);
  • Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06033 Entrez Gene ID: 710 OMIM ID: 606860 Swissprot Accession: P05155;