Aliases for PROS1 Gene
External Ids for PROS1 Gene
Previous HGNC Symbols for PROS1 Gene
Previous GeneCards Identifiers for PROS1 Gene
This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
GeneCards Summary for PROS1 Gene
PROS1 (Protein S) is a Protein Coding gene. Diseases associated with PROS1 include Thrombophilia Due To Protein S Deficiency, Autosomal Recessive and Thrombophilia Due To Protein S Deficiency, Autosomal Dominant. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include calcium ion binding and endopeptidase inhibitor activity. An important paralog of this gene is SHBG.
UniProtKB/Swiss-Prot Summary for PROS1 Gene
Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis.