MGP Database

MGP001009

UniProt Annotations

Entry Information

Gene Name	coagulation factor V (proaccelerin, labile factor)
Protein Entry	FA5_HUMAN
UniProt ID	P12259
Species	Human

Comments

Comment type	Description
Disease	Budd-Chiari syndrome (BDCHS) [MIM:600880]: A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. {ECO:0000269\|PubMed:9245936}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease	Factor V deficiency (FA5D) [MIM:227400]: A blood coagulation disorder leading to an hemorrhagic diathesis known as parahemophilia. {ECO:0000269\|PubMed:10942390, ECO:0000269\|PubMed:12393490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269\|PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease	Pregnancy loss, recurrent, 1 (RPRGL1) [MIM:614389]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269\|PubMed:11018168}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease	Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]: A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis. {ECO:0000269\|PubMed:11435304, ECO:0000269\|PubMed:11858490, ECO:0000269\|PubMed:14617013, ECO:0000269\|PubMed:9454742}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats.
Enzyme Regulation	Inhibited by SERPINA5. {ECO:0000269\|PubMed:15140131, ECO:0000269\|PubMed:2844223, ECO:0000269\|PubMed:6323392, ECO:0000269\|PubMed:9556620}.
Function	Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.
Ptm	Activated protein C inactivates factor V and factor Va by proteolytic degradation.
Ptm	Phosphorylation sites are present in the extracellular medium. {ECO:0000269\|PubMed:19690332}.
Ptm	Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity. {ECO:0000269\|PubMed:2168225, ECO:0000269\|PubMed:7989361, ECO:0000269\|PubMed:8204629}.
Ptm	Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the N-terminus and a light chain at the C-terminus).
Sequence Caution	Sequence=ABD23003.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI23065.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the multicopper oxidase family. {ECO:0000305}.
Similarity	Contains 2 F5/8 type C domains. {ECO:0000255\|PROSITE- ProRule:PRU00081}.
Similarity	Contains 3 F5/8 type A domains. {ECO:0000305}.
Similarity	Contains 6 plastocyanin-like domains. {ECO:0000305}.
Subcellular Location	Secreted {ECO:0000250}.
Subunit	Factor Va, the activated form of factor V, is composed of a heavy chain and a light chain, non-covalently bound. The interaction between the two chains is calcium-dependent. Forms heterodimer with SERPINA5.
Tissue Specificity	Plasma.
Web Resource	Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f5/";
Web Resource	Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F5";
Web Resource	Name=Wikipedia; Note=Factor V entry; URL="http://en.wikipedia.org/wiki/Factor_V";