Aliases for SERPINC1 Gene
External Ids for SERPINC1 Gene
Previous HGNC Symbols for SERPINC1 Gene
Previous GeneCards Identifiers for SERPINC1 Gene
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, Jul 2009]
GeneCards Summary for SERPINC1 Gene
SERPINC1 (Serpin Family C Member 1) is a Protein Coding gene. Diseases associated with SERPINC1 include Thrombophilia Due To Antithrombin Iii Deficiency and Disseminated Intravascular Coagulation. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Platelet activation, signaling and aggregation. GO annotations related to this gene include heparin binding and protease binding. An important paralog of this gene is SERPINB12.
UniProtKB/Swiss-Prot for SERPINC1 Gene
Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.