Homo sapiens Gene: F5
Summary
InnateDB Gene IDBG-104668.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol F5
Gene Name coagulation factor V (proaccelerin, labile factor)
Synonyms FVL; PCCF; RPRGL1; THPH2
Species Homo sapiens
Ensembl Gene ENSG00000198734
Encoded Proteins
coagulation factor V (proaccelerin, labile factor)
coagulation factor V (proaccelerin, labile factor)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:169514166-169586588
Strand Reverse strand
Band q24.2
Transcripts
ENST00000367796 ENSP00000356770
ENST00000367797 ENSP00000356771
ENST00000495481
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:0004252 serine-type endopeptidase activity
GO:0005507 copper ion binding
GO:0005515 protein binding
Biological Process
GO:0002576 platelet degranulation
GO:0006508 proteolysis
GO:0007155 cell adhesion
GO:0007596 blood coagulation
GO:0008015 blood circulation
GO:0030168 platelet activation
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031091 platelet alpha granule
GO:0031093 platelet alpha granule lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Common Pathway pathway
Platelet degranulation pathway
Response to elevated platelet cytosolic Ca2+ pathway
Formation of Fibrin Clot (Clotting Cascade) pathway
Platelet activation, signaling and aggregation pathway
Hemostasis pathway
KEGG
Complement and coagulation cascades pathway
INOH
PID NCI
Cross-References
SwissProt P12259
TrEMBL C8C1T1 Q1L610 Q2HZZ1 Q8TD21
UniProt Splice Variant
Entrez Gene 2153
UniGene Hs.30054
RefSeq NM_000130
HUGO HGNC:3542
OMIM 612309
CCDS CCDS1281
HPRD 01964
IMGT
EMBL AJ297255 AK291613 AY046060 AY364535 DQ019941 DQ357212 DQ377944 GQ354889 GQ354890 GQ354891 GQ354892 L32755 L32756 L32757 L32758 L32759 L32760 L32761 L32762 L32763 L32764 L32765 L32766 L32767 L32768 L32769 L32770 L32771 L32772 L32773 L32774 L32775 L32776 L32777 L32778 L32779 M14335 M16967 Z99572
GenPept AAA52424 AAB59401 AAB59532 AAL09164 AAQ55063 AAY85741 ABC96776 ABD23003 ACV32685 ACV32686 ACV32687 ACV32688 BAF84302 CAB16748 CAC82573 CAI23065
RNA Seq Atlas 2153