Recombinant Human Vitamin K-dependent protein C (PROC)

Function

Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids (PubMed:25618265, PubMed:39880037). Exerts a protective effect on the endothelial cell barrier function (PubMed:25651845)

Subcellular Location

Secreted; Golgi apparatus; Endoplasmic reticulum

Disease Association

Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) : A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. [The disease is caused by variants affecting the gene represented in this entry] | Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) : A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Plasma; synthesized in the liver

Subunit

Synthesized as a single chain precursor, which is cleaved into a light chain and a heavy chain held together by a disulfide bond. The enzyme is then activated by thrombin, which cleaves a tetradecapeptide from the amino end of the heavy chain; this reaction, which occurs at the surface of endothelial cells, is strongly promoted by thrombomodulin. Interacts (activated) with iripin-8, a serine protease inhibitor from Ixodes ricinus saliva (PubMed:34502392)

• Beckmann R.J. et al. The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs. — Nucleic Acids Res. (1985)
• Foster D.C. et al. The nucleotide sequence of the gene for human protein C. — Proc. Natl. Acad. Sci. U.S.A. (1985)
• Plutzky J. et al. Evolution and organization of the human protein C gene. — Proc. Natl. Acad. Sci. U.S.A. (1986)
• PubMed: CI-6O517G2GQVJPC (JUN-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Hillier L.W. et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. — Nature (2005)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)