C1 Inhibitor (SERPING1) Human Active Protein

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, Jul 2008]

SERPING1: a protein protease inhibitor (C1-inhibitor) that forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play an important role in regulating complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Mutations of the SERPING1 gene is associated with adult macular degeneration can also cause hereditary angioedema. Binds to E.coli stcE which allows localization of SERPING1 to cell membranes thus protecting the bacteria against complement-mediated lysis. Belongs to the serpin family.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 11q12.1

Cellular Component: extracellular space; extracellular region

Molecular Function: serine-type endopeptidase inhibitor activity; protein binding

Biological Process: negative regulation of complement activation, lectin pathway; platelet activation; fibrinolysis; platelet degranulation; blood circulation; innate immune response; blood coagulation; blood coagulation, intrinsic pathway; complement activation, classical pathway; aging

Disease: Angioedema, Hereditary, Type I; Complement Component 4, Partial Deficiency Of