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F5 coagulation factor V [ Homo sapiens (human) ]

Gene ID: 2153, updated on 12-Sep-2020

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
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

Genomic context

Location:
1q24.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (169511951..169586630, 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 Sharpr-MPRA regulatory region 2803 Neighboring gene selectin P Neighboring gene uncharacterized LOC107985745

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
GeneReviews: Not available
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
GeneReviews: Not available
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
GeneReviews: Not available
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
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available
Genetic predictors of fibrin D-dimer levels in healthy adults.
GeneReviews: Not available
Genetics of venous thrombosis: insights from a new genome wide association study.
GeneReviews: Not available
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
GeneReviews: Not available
Ischemic stroke
MedGen: C0948008 OMIM: 601367 GeneReviews: Not available
Compare labs
Multiple loci influencing hippocampal degeneration identified by genome scan.
GeneReviews: Not available
Recurrent abortion
MedGen: C3280670 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
COPII-coated 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 HDA PubMed 
membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
platelet alpha granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

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)

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
    P12259
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    169511951..169586630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000660.2XP_016856149.1  coagulation factor V isoform X1

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