SERPINC1
Function
Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade (PubMed:15140129, PubMed:15853774). AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa (PubMed:15140129). Its inhibitory activity is greatly enhanced in the presence of heparin.
Involvement in disease
Antithrombin III deficiency
AT3D
An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by FAM20C in the extracellular medium.
Sequence Similarities
Belongs to the serpin family.
Tissue Specificity
Found in plasma.
Cellular localization
- Secreted
- Extracellular space
Alternative names
AT3, PRO0309, SERPINC1, Antithrombin-III, ATIII, Serpin C1