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Aliases for F5 Gene

Aliases for F5 Gene

  • Coagulation Factor V (Proaccelerin, Labile Factor) 2 3
  • Activated Protein C Cofactor 3 4
  • Proaccelerin, Labile Factor 3 4
  • RPRGL1 3 6
  • THPH2 3 6
  • Coagulation Factor V Jinjiang A2 Domain 3
  • Coagulation Factor V 3
  • Factor V Leiden 3
  • PCCF 3
  • FVL 3

External Ids for F5 Gene

Summaries for F5 Gene

Entrez Gene Summary for F5 Gene

  • 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]

GeneCards Summary for F5 Gene

F5 (Coagulation Factor V (Proaccelerin, Labile Factor)) is a Protein Coding gene. Diseases associated with F5 include thrombophilia due to activated protein c resistance and factor v leiden thrombophilia. Among its related pathways are Hemostasis and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include copper ion binding. An important paralog of this gene is NRP2.

UniProtKB/Swiss-Prot for F5 Gene

  • Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin

Gene Wiki entry for F5 Gene

PharmGKB "VIP" Summary for F5 Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for F5 Gene

Genomics for F5 Gene

Genomic Location for F5 Gene

Start:
169,511,954 bp from pter
End:
169,586,588 bp from pter
Size:
74,635 bases
Orientation:
Minus strand

Genomic View for F5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for F5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F5 Gene

Regulatory Elements for F5 Gene

Proteins for F5 Gene

  • Protein details for F5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12259-FA5_HUMAN
    Recommended name:
    Coagulation factor V
    Protein Accession:
    P12259
    Secondary Accessions:
    • A8K6E8
    • Q14285
    • Q2EHR5
    • Q5R346
    • Q5R347
    • Q6UPU6
    • Q8WWQ6

    Protein attributes for F5 Gene

    Size:
    2224 amino acids
    Molecular mass:
    251703 Da
    Quaternary structure:
    • Factor Va, the activated form of factor V, is composed of a heavy chain and a light chain, non-covalently bound. The interaction between the two chains is calcium-dependent. Forms heterodimer with SERPINA5
    SequenceCaution:
    • Sequence=ABD23003.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI23065.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for F5 Gene

neXtProt entry for F5 Gene

Proteomics data for F5 Gene at MOPED

Post-translational modifications for F5 Gene

  • Activated protein C inactivates factor V and factor Va by proteolytic degradation
  • Phosphorylation sites are present in the extracellular medium
  • Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity.
  • Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the N-terminus and a light chain at the C-terminus)
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn51, Asn55, Asn239, Asn297, Asn382, Asn460, Asn468, Asn554, Asn741, Asn752, Asn760, Asn776, Asn782, Thr804, Thr805, Asn821, Asn938, Asn977, Asn1074, Asn1083, Asn1103, Asn1106, Asn1479, Asn1499, Asn1559, Asn1703, Asn2010, and Asn2209

Other Protein References for F5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for F5 Gene

Domains for F5 Gene

UniProtKB/Swiss-Prot:

FA5_HUMAN
Domain:
  • Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats:
    • P12259
  • Contains 3 F5/8 type A domains.:
    • P12259
  • Contains 2 F5/8 type C domains.:
    • P12259
  • Contains 6 plastocyanin-like domains.:
    • P12259
Family:
  • Belongs to the multicopper oxidase family.:
    • P12259
genes like me logo Genes that share domains with F5: view

No data available for Gene Families for F5 Gene

Function for F5 Gene

Molecular function for F5 Gene

GENATLAS Biochemistry: coagulation factor V (proaccelerin,labile factor),cofactor in the activation of prothrombin (F2) by activated F10,colocalized and complexed with merin multimerin in platelets alpha-granules
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by SERPINA5.
UniProtKB/Swiss-Prot Function: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin

Gene Ontology (GO) - Molecular Function for F5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding IPI 2844223
genes like me logo Genes that share ontologies with F5: view
genes like me logo Genes that share phenotypes with F5: view

Animal Models for F5 Gene

MGI Knock Outs for F5:
  • F5 tm1Dgi

miRNA for F5 Gene

miRTarBase miRNAs that target F5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for F5 Gene

Localization for F5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F5 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for F5 Gene COMPARTMENTS Subcellular localization image for F5 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for F5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with F5: view

Pathways for F5 Gene

genes like me logo Genes that share pathways with F5: view

Gene Ontology (GO) - Biological Process for F5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006508 proteolysis IEA --
GO:0007155 cell adhesion --
GO:0007596 blood coagulation TAS --
GO:0008015 blood circulation IEA --
genes like me logo Genes that share ontologies with F5: view

Compounds for F5 Gene

(2) HMDB Compounds for F5 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Copper
  • Cu
7440-50-8

(2) Drugbank Compounds for F5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Drotrecogin alfa
  • Anticoagulant protein C
60202-16-6 target multitarget
Phenylmercury
target

(134) Novoseek inferred chemical compound relationships for F5 Gene

Compound -log(P) Hits PubMed IDs
xigris 86.6 28
fibrinogen 82.2 147
heparin 75.9 124
homocysteine 73.8 115
desogestrel 70.3 15

(5) PharmGKB related drug/compound annotations for F5 Gene

genes like me logo Genes that share compounds with F5: view

Transcripts for F5 Gene

mRNA/cDNA for F5 Gene

Unigene Clusters for F5 Gene

Coagulation factor V (proaccelerin, labile factor):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for F5 Gene

No ASD Table

Relevant External Links for F5 Gene

GeneLoc Exon Structure for
F5
ECgene alternative splicing isoforms for
F5

Expression for F5 Gene

mRNA expression in normal human tissues for F5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F5 Gene

This gene is overexpressed in Liver (24.7) and Whole Blood (15.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for F5 Gene

SOURCE GeneReport for Unigene cluster for F5 Gene Hs.30054

mRNA Expression by UniProt/SwissProt for F5 Gene

P12259-FA5_HUMAN
Tissue specificity: Plasma
genes like me logo Genes that share expressions with F5: view

Orthologs for F5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for F5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia F5 36
  • 95.69 (n)
  • 94.31 (a)
F5 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia F5 36
  • 83.11 (n)
  • 75.26 (a)
F5 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F5 36
  • 85.12 (n)
  • 78.72 (a)
F5 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F5 36
  • 78.53 (n)
  • 72.58 (a)
F5 16
F5 37
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia F5 37
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F5 37
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F5 36
  • 74.49 (n)
  • 67.17 (a)
chicken
(Gallus gallus)
Aves F5 36
  • 63.68 (n)
  • 56.41 (a)
F5 37
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F5 37
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f5 36
  • 61.19 (n)
  • 56.76 (a)
zebrafish
(Danio rerio)
Actinopterygii f5 36
  • 56.94 (n)
  • 50.14 (a)
f5 37
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 37
  • 33 (a)
OneToMany
Species with no ortholog for F5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for F5 Gene

ENSEMBL:
Gene Tree for F5 (if available)
TreeFam:
Gene Tree for F5 (if available)

Paralogs for F5 Gene

Paralogs for F5 Gene

Selected SIMAP similar genes for F5 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with F5: view

Variants for F5 Gene

Sequence variations from dbSNP and Humsavar for F5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs4524 - 169,542,517(-) ATTCA(A/G)AAGTC reference, missense
rs4525 - 169,542,496(-) TAAGC(A/G)TAAGG reference, missense
rs6004 -- 169,515,630(-) TTTTC(A/G)TAGGC intron-variant
rs6005 - 169,541,652(-) AGTCA(C/G)AGATC reference, missense
rs6006 -- 169,541,835(-) CAGAC(A/C/G)TTGCC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for F5 Gene

Variant ID Type Subtype PubMed ID
esv22143 CNV Gain+Loss 19812545
nsv831871 CNV Loss 17160897
nsv872533 CNV Gain 21882294
esv2518089 CNV Insertion 19546169
esv272697 CNV Insertion 20981092
esv270550 CNV Insertion 20981092
nsv872534 CNV Loss 21882294
nsv872535 CNV Gain 21882294
dgv405n71 CNV Loss 21882294

Relevant External Links for F5 Gene

HapMap Linkage Disequilibrium report
F5
Human Gene Mutation Database (HGMD)
F5

Disorders for F5 Gene

(5) OMIM Diseases for F5 Gene (612309)

UniProtKB/Swiss-Prot

FA5_HUMAN
  • Factor V deficiency (FA5D) [MIM:227400]: A blood coagulation disorder leading to an hemorrhagic diathesis known as parahemophilia. {ECO:0000269 PubMed:10942390, ECO:0000269 PubMed:12393490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]: A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis. {ECO:0000269 PubMed:11435304, ECO:0000269 PubMed:11858490, ECO:0000269 PubMed:14617013, ECO:0000269 PubMed:9454742}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Budd-Chiari syndrome (BDCHS) [MIM:600880]: A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. {ECO:0000269 PubMed:9245936}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269 PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Pregnancy loss, recurrent, 1 (RPRGL1) [MIM:614389]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269 PubMed:11018168}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(97) Novoseek inferred disease relationships for F5 Gene

Disease -log(P) Hits PubMed IDs
apc resistance 98.6 400
thrombophilia 96.8 152
venous thrombosis 93.3 229
protein s deficiency 93.1 119
thrombosis 91.8 232

Genatlas disease for F5 Gene

parahemophilia

Relevant External Links for F5

GeneTests
F5
GeneReviews
F5
Genetic Association Database (GAD)
F5
Human Genome Epidemiology (HuGE) Navigator
F5
genes like me logo Genes that share disorders with F5: view

Publications for F5 Gene

  1. Sulfation of tyrosine residues in coagulation factor V. (PMID: 2168225) Hortin G.L. (Blood 1990) 3 4 23
  2. The mechanism of inactivation of human factor V and human factor Va by activated protein C. (PMID: 7989361) Kalafatis M. … Mann K.G. (J. Biol. Chem. 1994) 3 4 23
  3. Mutation in blood coagulation factor V associated with resistance to activated protein C. (PMID: 8164741) Bertina R.M. … Reitsma P.H. (Nature 1994) 3 4 23
  4. Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity. (PMID: 8204629) Pittman D.D. … Kaufman R.J. (Biochemistry 1994) 3 4 23
  5. Factor V Cambridge: a new mutation (Arg306-to-Thr) associated with resistance to activated protein C. (PMID: 9454742) Williamson D. … Baglin T. (Blood 1998) 3 4 23

Products for F5 Gene

Sources for F5 Gene

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