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    F5 coagulation factor V [ Homo sapiens (human) ]

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

    Summary

    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
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables copper ion binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in blood circulation  
    involved_in blood coagulation  
    involved_in response to vitamin K  

    General protein information

    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_000130.5NP_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:19062061
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      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: 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)
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