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MGP002457

UniProt Annotations

Entry Information

Gene Name	protein S (alpha)
Protein Entry	PROS_HUMAN
UniProt ID	P07225
Species	Human

Comments

Comment type	Description
Disease	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 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. {ECO:0000269\|PubMed:10447256, ECO:0000269\|PubMed:10613647, ECO:0000269\|PubMed:10706858, ECO:0000269\|PubMed:10790208, ECO:0000269\|PubMed:11372770, ECO:0000269\|PubMed:11776305, ECO:0000269\|PubMed:11858485, ECO:0000269\|PubMed:11927129, ECO:0000269\|PubMed:12351389, ECO:0000269\|PubMed:12632031, ECO:0000269\|PubMed:15238143, ECO:0000269\|PubMed:15712227, ECO:0000269\|PubMed:7482398, ECO:0000269\|PubMed:7545463, ECO:0000269\|PubMed:7579449, ECO:0000269\|PubMed:7803790, ECO:0000269\|PubMed:8298131, ECO:0000269\|PubMed:8639833, ECO:0000269\|PubMed:8701404, ECO:0000269\|PubMed:8765219, ECO:0000269\|PubMed:8781426, ECO:0000269\|PubMed:8943854, ECO:0000269\|PubMed:8977443, ECO:0000269\|PubMed:9031443, ECO:0000269\|PubMed:9241758, ECO:0000269\|Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) [MIM:614514]: A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage. {ECO:0000269\|PubMed:20484936}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Ptm	The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. {ECO:0000250}.
Sequence Caution	Sequence=AAP45054.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Contains 1 Gla (gamma-carboxy-glutamate) domain. {ECO:0000255\|PROSITE-ProRule:PRU00463}.
Similarity	Contains 2 laminin G-like domains. {ECO:0000255\|PROSITE-ProRule:PRU00122}.
Similarity	Contains 4 EGF-like domains. {ECO:0000255\|PROSITE- ProRule:PRU00076}.
Subcellular Location	Secreted.
Tissue Specificity	Plasma.
Web Resource	Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pros1/";