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    F5 coagulation factor V [ Homo sapiens (human) ]

    Gene ID: 2153, updated on 3-Jul-2016
    Official Symbol
    F5provided by HGNC
    Official Full Name
    coagulation factor Vprovided by HGNC
    Primary source
    HGNC:HGNC:3542
    See related
    Ensembl:ENSG00000198734 HPRD:01964; MIM:612309; Vega:OTTHUMG00000034595
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FVL; PCCF; THPH2; RPRGL1
    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]
    Orthologs
    Location:
    1q23
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (169511954..169586632, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169481192..169555769, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181 Neighboring gene solute carrier family 19 member 2 Neighboring gene selectin P Neighboring gene uncharacterized LOC107985745

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Budd-Chiari syndrome
    MedGen: C0856761 OMIM: 600880 GeneReviews: Not available
    Compare labs
    Factor V deficiency
    MedGen: C0015499 OMIM: 227400 GeneReviews: Factor V Leiden Thrombophilia
    Compare labs
    Ischemic stroke
    MedGen: C0948008 OMIM: 601367 GeneReviews: Not available
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    Recurrent abortion
    MedGen: C0000809 OMIM: 614389 GeneReviews: Not available
    Compare labs
    Thrombophilia due to activated protein C resistance
    MedGen: C1861171 OMIM: 188055 GeneReviews: Factor V Leiden Thrombophilia
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
    NHGRI GWA Catalog
    A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    NHGRI GWA Catalog
    A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
    NHGRI GWA Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    NHGRI GWA Catalog
    Genetics of venous thrombosis: insights from a new genome wide association study.
    NHGRI GWA Catalog
    Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
    NHGRI GWA Catalog
    Multiple loci influencing hippocampal degeneration identified by genome scan.
    NHGRI GWA Catalog
    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • Blood Clotting Cascade, organism-specific biosystem (from WikiPathways)
      Blood Clotting Cascade, organism-specific biosystemCoagulation is a complex process by which blood forms clots. It is an important part of hemostasis (the cessation of blood loss from a damaged vessel), wherein a damaged blood vessel wall is covered ...
    • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
      COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
    • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
      Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
    • Common Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
      Common Pathway of Fibrin Clot Formation, organism-specific biosystemThe common pathway consists of the cascade of activation events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the f...
    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
      ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
    • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
      Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
      Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    copper ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    COPII vesicle coating TAS
    Traceable Author Statement
    more info
     
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    blood circulation IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    platelet activation IEA
    Inferred from Electronic Annotation
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ER to Golgi transport vesicle TAS
    Traceable Author Statement
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    coagulation factor V
    Names
    activated protein c cofactor
    coagulation factor V (proaccelerin, labile factor)
    coagulation factor V jinjiang A2 domain
    factor V Leiden

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011806.1 RefSeqGene

      Range
      5001..79578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_553

    mRNA and Protein(s)

    1. NM_000130.4NP_000121.2  coagulation factor V preproprotein

      See identical proteins and their annotated locations for NP_000121.2

      Status: REVIEWED

      Source sequence(s)
      AK226079, AU279657, M16967, Z99572
      Consensus CDS
      CCDS1281.1
      UniProtKB/Swiss-Prot
      P12259
      Related
      ENSP00000356771, OTTHUMP00000032547, ENST00000367797, OTTHUMT00000083712
      Conserved Domains (6) summary
      PRK06933
      Location:12431454
      PRK06933; type III secretion system protein; Validated
      cd00057
      Location:20682220
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd14450
      Location:348528
      CuRO_3_FV_like; The third cupredoxin domain of coagulation factor V and similar proteins
      cd14451
      Location:15791754
      CuRO_5_FV_like; The fifth cupredoxin domain of coagulation factor V and similar proteins
      cd14454
      Location:541684
      CuRO_4_FV_like; The fourth cupredoxin domain of coagulation factor V and similar proteins
      cl19115
      Location:32196
      Cupredoxin; Cupredoxin superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      169511954..169586632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000660.1XP_016856149.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      170903222..170977927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)