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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Vitamin K-dependent protein S
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| http://www.biopax.org/relea... |
PROS_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
FUNCTION: 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. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Plasma. PTM: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains (By similarity). DISEASE: Defects in PROS1 are the cause of protein S deficiency (PROS1D) [MIM:612336]; also known as thrombophilia due to protein S deficiency. PROS1D is a cause of hereditary thrombophilia, a hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic. Based on the plasma levels of total and free PROS1 antigen as well as the serine protease-activated protein C cofactor activity, three types of PROS1D have been described: type I, characterized by reduced total and free PROS1 antigen levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity. SIMILARITY: Contains 4 EGF-like domains. SIMILARITY: Contains 1 Gla (gamma-carboxy-glutamate) domain. SIMILARITY: Contains 2 laminin G-like domains. SEQUENCE CAUTION: Sequence=AAP45054.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROS1"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pros1/"; GENE SYNONYMS: PROS. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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