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    F5 coagulation factor V [ Homo sapiens (human) ]

    Gene ID: 2153, updated on 10-Dec-2024

    Summary

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    Official Symbol
    F5provided by HGNC
    Official Full Name
    coagulation factor Vprovided by HGNC
    Primary source
    HGNC:HGNC:3542
    See related
    Ensembl:ENSG00000198734 MIM:612309; AllianceGenome:HGNC:3542
    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]
    Expression
    Biased expression in liver (RPKM 48.1), placenta (RPKM 23.5) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q24.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169511951..169586481, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (168867198..168942366, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169481189..169555719, 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 ATAC-STARR-seq lymphoblastoid active region 2072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1546 Neighboring gene solute carrier family 19 member 2 Neighboring gene Sharpr-MPRA regulatory region 5964 Neighboring gene MPRA-validated peak447 silencer Neighboring gene MPRA-validated peak448 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1250 Neighboring gene MPRA-validated peak449 silencer Neighboring gene Sharpr-MPRA regulatory region 2803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555193-169555694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555695-169556194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2075 Neighboring gene selectin P Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2076 Neighboring gene uncharacterized LOC107985745 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169636965-169637470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2077

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Is recurrent venous thromboembolism more frequent in homozygous patients for the factor V Leiden mutation than in heterozygous patients? Procare Group. Blood Coagul Fibrinolysis, 2003 Sep. PMID 12960604
    2. Risk factors for venous thrombosis in the black population. Patel RK, et al. Thromb Haemost, 2003 Nov. PMID 14597978
    3. Factor V Leiden mutation enhances fibrin formation and dissolution in vivo in a human endotoxemia model. Elmas E, et al. Blood, 2010 Aug 5. PMID 20410502
    4. Factor V Leiden and risk of ischemic stroke in nonvalvular atrial fibrillation: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study. Go AS, et al. J Thromb Thrombolysis, 2003 Feb. PMID 14574075
    5. The contribution of amino acid region ASP695-TYR698 of factor V to procofactor activation and factor Va function. Beck DO, et al. J Biol Chem, 2004 Jan 23. PMID 14559913

    See all (1341) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del).
      Title: A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del).
    2. Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy.
      Title: Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy.
    3. Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation.
      Title: Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation.
    4. Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation.
      Title: Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation.
    5. Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.
      Title: Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.
    6. Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).
      Title: Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).
    7. Complications of Factor V Leiden in Adults Undergoing Noncardiac Surgical Procedures: A Systematic Review.
      Title: Complications of Factor V Leiden in Adults Undergoing Noncardiac Surgical Procedures: A Systematic Review.
    8. Impaired factor V-related anticoagulant mechanisms and deep vein thrombosis associated with A2086D and W1920R mutations.
      Title: Impaired factor V-related anticoagulant mechanisms and deep vein thrombosis associated with A2086D and W1920R mutations.
    9. [The analysis of a pedigree with hereditary coagulation factor deficiency caused by compound heterozygous variation of F5 gene].
      Title: [The analysis of a pedigree with hereditary coagulation factor Ⅴ deficiency caused by compound heterozygous variation of F5 gene].
    10. IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.
      Title: IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.
    Submit: New GeneRIF Correction See all GeneRIFs (634)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Budd-Chiari syndrome
    MedGen: C0856761 OMIM: 600880 GeneReviews: Not available
    		not available
    Congenital factor V deficiency
    MedGen: C0015499 OMIM: 227400 GeneReviews: Not available
    		not available
    Ischemic stroke
    MedGen: C0948008 OMIM: 601367 GeneReviews: Not available
    		not available
    Pregnancy loss, recurrent, susceptibility to, 1
    MedGen: C3280670 OMIM: 614389 GeneReviews: Not available
    		not available
    Thrombophilia due to activated protein C resistance
    MedGen: C1861171 OMIM: 188055 GeneReviews: Factor V Leiden Thrombophilia
    		not available

    EBI GWAS Catalog

    Description
    A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
    EBI GWAS Catalog
    A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    EBI GWAS Catalog
    A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
    EBI GWAS Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    EBI GWAS Catalog
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    EBI GWAS Catalog
    Genetics of venous thrombosis: insights from a new genome wide association study.
    EBI GWAS Catalog
    Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
    EBI GWAS Catalog
    Multiple loci influencing hippocampal degeneration identified by genome scan.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood circulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to vitamin K IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in COPII-coated ER to Golgi transport vesicle TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular vesicle HDA PubMed 
    located_in membrane HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in platelet alpha granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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

    NCBI Reference Sequences (RefSeq)

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    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_000130.5 → NP_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
      A8K6E8, P12259, Q14285, Q2EHR5, Q5R346, Q5R347, Q6UPU6, Q8WWQ6
      UniProtKB/TrEMBL
      A0A0A0MRJ7
      Related
      ENSP00000356771.3, ENST00000367797.9
      Conserved Domains (6) summary
      smart00231
      Location:1906 → 2061
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:2068 → 2220
      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:348 → 528
      CuRO_3_FV_like; The third cupredoxin domain of coagulation factor V and similar proteins
      cd14451
      Location:1579 → 1754
      CuRO_5_FV_like; The fifth cupredoxin domain of coagulation factor V and similar proteins
      cd14454
      Location:541 → 684
      CuRO_4_FV_like; The fourth cupredoxin domain of coagulation factor V and similar proteins
      cl19115
      Location:32 → 196
      Cupredoxin; Cupredoxin superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      169511951..169586481 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      168867198..168942366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12259.4 GenPept UniProtKB/Swiss-Prot:P12259

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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