F5

Gene Information
 
Gene Symbol
F5
 
Aliases
FVL, PCCF, RPRGL1, THPH2
 
Entrez Gene ID
 
Gene Name
Coagulation factor V
 
Chromosomal Location
1q24.2
 
HGNC ID
 
Summary
This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0005576 Cellular component Extracellular region NAS 14718574
GO:0016020 Cellular component Membrane HDA 19946888
GO:1903561 Cellular component Extracellular vesicle HDA 24769233
GO:0005515 Molecular function Protein binding IPI 2844223, 6323392, 9556620
Protein Information
 
Protein Name
Coagulation factor V, activated protein c cofactor, coagulation factor V (proaccelerin, labile factor), coagulation factor V jinjiang A2 domain, factor V Leiden
 
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
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF07732 Cu-oxidase_3
PF00754 F5_F8_type_C
Pathways
 
KEGG
 
Reactome
 

Complement and coagulation cascades

 

Platelet degranulation
Common Pathway of Fibrin Clot Formation
COPII-mediated vesicle transport
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo concentration in the ER
Post-translational protein phosphorylation

Interactions
 
STRING MINT IntAct
ENSP00000478570 P15692 P15692
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Blood Disorders
Blood Coagulation Disorders
Thrombophilia
Cardiovascular Diseases
Deep Vein Thrombosis
Pulmonary Embolism
Mesenteric ischemia
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
MTHFR, G20210A prothrombin,plasminogen activator inhibitor 4G/5G, and platelet glycoprotein PL A1A2 gene mutations 
Recurrent pregnancy loss 
G1691A Factor V Leiden 
 
Related 
 
The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS. 
 
PCOS 
G1.697A (F5), G20.210A (Prothrombin) 
 
Related 
1 PCOS 
This study describes the association of pseudotumor cerebri, optic nerve demyelination, PCOS, other endocrinologic abnormalities, and thrombophilia due to a factor V and prothrombin mutation 

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