SERPINC1, Official Symbol SERPINC1provided by HGNC Official Full Name serpin family C member 1provided by HGNC Primary source HGNC:HGNC:775 See related Ensembl:ENSG00000117601 MIM:107300; AllianceGenome:HGNC:775 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AT3; AT3D; ATIII; THPH7; ATIII-R2; ATIII-T1; ATIII-T2 Summary The protein encoded by this gene, antithrombin III, 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. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Restricted expression toward liver (RPKM 926.4) See more Orthologs mouse all