Aliases for SERPIND1 Gene
External Ids for SERPIND1 Gene
Previous HGNC Symbols for SERPIND1 Gene
Previous GeneCards Identifiers for SERPIND1 Gene
The product encoded by this gene is a serine proteinase inhibitor which rapidly inhibits thrombin in the presence of dermatan sulfate or heparin. The gene contains five exons and four introns. This protein shares homology with antithrombin III and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2008]
GeneCards Summary for SERPIND1 Gene
SERPIND1 (Serpin Peptidase Inhibitor, Clade D (Heparin Cofactor), Member 1) is a Protein Coding gene. Diseases associated with SERPIND1 include thrombophilia due to heparin cofactor ii deficiency and dysfibrinogenemia. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. GO annotations related to this gene include heparin binding and endopeptidase inhibitor activity. An important paralog of this gene is SERPINA10.
UniProtKB/Swiss-Prot for SERPIND1 Gene
Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.
Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.