InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: F5

Summary

InnateDB Protein

IDBP-104670.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

coagulation factor V (proaccelerin, labile factor)

Synonyms

FVL; PCCF; RPRGL1; THPH2;

Species

Homo sapiens

Ensembl Protein

ENSP00000356770

InnateDB Gene

IDBG-104668 (F5)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Secreted {ECO:0000250}.

Disease Associations

Factor V deficiency (FA5D) [MIM:227400]: A blood coagulation disorder leading to an hemorrhagic diathesis known as parahemophilia. {ECO:0000269PubMed:10942390, ECO:0000269PubMed:12393490}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:11435304, ECO:0000269PubMed:11858490, ECO:0000269PubMed:14617013, ECO:0000269PubMed:9454742}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:9245936}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.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:0000269PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.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:0000269PubMed:11018168}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Plasma.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005507	copper ion binding
GO:0005515	protein binding

Biological Process

GO:0002576	platelet degranulation
GO:0007155	cell adhesion
GO:0007596	blood coagulation
GO:0030168	platelet activation

Cellular Component

GO:0005576	extracellular region
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0031093	platelet alpha granule lumen

Protein Structure and Domains

PDB ID

InterPro

IPR000421 Coagulation factor 5/8 C-terminal type domain
IPR008972 Cupredoxin
IPR008979 Galactose-binding domain-like
IPR011707 Multicopper oxidase, type 3

PFAM

PF00754
PF07732

PRINTS

PIRSF

SMART

SM00231

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P12259