UniProt functional annotation for P07225



	UniProt functional annotation for P07225

UniProt code: P07225.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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. {ECO:0000250}.

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:18322254, 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.15}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAP45054.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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. {ECO:0000250}.
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:18322254, 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.15}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAP45054.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};