F5

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]

Description

Coagulation factor V

Tissue specificity

Group enriched (choroid plexus, liver, placenta)

Subcell location

Golgi apparatus

Predicted location

Secreted to blood

Protein family

Candidate cardiovascular disease genes
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (169511951 - 169586588)

Ensembl ID

ENSG00000198734  (ver. 103.38)

Orthologs

Mouse F5: ENSMUSG00000026579

UniProt

P12259

neXtProt

NX_P12259

Human splice variants
Mouse splice variants

Protein structure