SERPINC1

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]

Description

Serpin family C member 1

Tissue specificity

Tissue enriched (liver)

Predicted location

Secreted to blood

Protein family

Candidate cardiovascular disease genes
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (173903800 - 173917327)

Ensembl ID

ENSG00000117601  (ver. 103.38)

Orthologs

Mouse Serpinc1: ENSMUSG00000026715

UniProt

P01008

neXtProt

NX_P01008

Human splice variants
Mouse splice variants

Protein structure