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Aliases for F5 Gene

Aliases for F5 Gene

  • Coagulation Factor V 2 3 5
  • Coagulation Factor V (Proaccelerin, Labile Factor) 2 3
  • Activated Protein C Cofactor 3 4
  • Coagulation Factor V Jinjiang A2 Domain 3
  • Proaccelerin, Labile Factor 4
  • Factor V Leiden 3
  • RPRGL1 3
  • THPH2 3
  • PCCF 3
  • FVL 3

External Ids for F5 Gene

Previous GeneCards Identifiers for F5 Gene

  • GC01M167112
  • GC01M165134
  • GC01M166179
  • GC01M166670
  • GC01M166215
  • GC01M167750
  • GC01M140703

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) is a Protein Coding gene. Diseases associated with F5 include Factor V Deficiency and Thrombophilia Due To Activated Protein C Resistance. Among its related pathways are Transport to the Golgi and subsequent modification and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include serine-type endopeptidase activity and copper ion binding. An important paralog of this gene is F8.

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 CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for F5 Gene

Genomics for F5 Gene

Regulatory Elements for F5 Gene

Enhancers for F5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G169688 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -110.4 -110409 17.4 YBX3 PKNOX1 RAD21 GATA2 FOS RELB ETV6 IKZF2 CBFB JUNB METTL18 C1orf112 SELP F5 DPT SELL SCYL3 KIFAP3 ENSG00000230704 METTL11B
GH01G169571 1.1 FANTOM5 ENCODE 11.1 +14.3 14256 1.7 ELF3 TBP FOXA2 RARA MIXL1 THAP11 PPARG KAT8 SSRP1 MIER3 F5 C1orf112 METTL18 SELE SCYL3 GC01P169565
GH01G169779 1.1 Ensembl ENCODE 10.8 -194.3 -194254 3.6 PKNOX1 FOXA2 GATA2 RCOR1 FOS HCFC1 REST ZNF217 SREBF1 MBD2 METTL18 F5 CCDC181 SCYL3 LOC101928628
GH01G169584 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6 +0.8 788 2.4 HDGF FOXA2 ARID4B DMAP1 ZNF2 ZNF48 YY1 SLC30A9 GLIS2 ZNF143 F5 SCYL3 BLZF1 SLC19A2 GC01P169565
GH01G169546 0.8 ENCODE 11.3 +40.1 40141 0.0 CTCF MAX ZNF2 RAD21 RFX5 YY1 GATA3 NCOR1 SCRT2 ZNF143 SLC19A2 ENSG00000213062 F5 CCDC181 SELE GC01P169565 GC01P169489
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around F5 on UCSC Golden Path with GeneCards custom track

Genomic Location for F5 Gene

Chromosome:
1
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

Genes around F5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for F5 Gene

  • Activated protein C inactivates factor V and factor Va by proteolytic degradation.
  • Phosphorylated by FAM20C 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).
  • Glycosylation at Asn51, Asn55, isoforms=239, isoforms=297, Asn382, Asn460, Asn468, Asn554, isoforms=741, isoforms=752, Asn760, isoforms=776, isoforms=782, Thr804, isoforms=805, Asn821, isoforms=938, Asn977, isoforms=1074, Asn1083, isoforms=1103, isoforms=1106, isoforms=1479, isoforms=1499, isoforms=1559, isoforms=1703, Asn2010, and Asn2209
  • Modification sites at PhosphoSitePlus

Other Protein References for F5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for F5 Gene

Domains & Families for F5 Gene

Graphical View of Domain Structure for InterPro Entry

P12259

UniProtKB/Swiss-Prot:

FA5_HUMAN :
  • Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats.
  • Belongs to the multicopper oxidase family.
Domain:
  • Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats.
Family:
  • Belongs to the multicopper oxidase family.
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
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with F5: view
genes like me logo Genes that share phenotypes with F5: view

Human Phenotype Ontology for F5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F5 Gene

MGI Knock Outs for F5:
  • F5 tm1Dgi

Animal Model Products

miRNA for F5 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for F5

Flow Cytometry Products

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

Localization for F5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F5 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F5 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for F5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with F5: view

Pathways & Interactions 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:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007596 blood coagulation TAS,IEA --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with F5: view

No data available for SIGNOR curated interactions for F5 Gene

Drugs & Compounds for F5 Gene

(86) Drugs for F5 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Drotrecogin alfa Approved, Investigational, Withdrawn Pharma inhibitor, Target, multitarget 0
Tamoxifen Approved Pharma Antagonist TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 390
Thrombomodulin Alfa Approved, Investigational Pharma Target 0
Drospirenone Approved Pharma Antagonist 109
Eltrombopag Approved Pharma 0

(58) Additional Compounds for F5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with F5: view

Transcripts for F5 Gene

Unigene Clusters for F5 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for F5

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x24.7) and Whole Blood (x15.1).

Protein differential expression in normal tissues from HIPED for F5 Gene

This gene is overexpressed in Serum (26.8), Peripheral blood mononuclear cells (18.1), Plasma (10.3), and Platelet (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for F5 Gene



NURSA nuclear receptor signaling pathways regulating expression of F5 Gene:

F5

SOURCE GeneReport for Unigene cluster for F5 Gene:

Hs.30054

mRNA Expression by UniProt/SwissProt for F5 Gene:

P12259-FA5_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for F5 Gene

  • Blood(4.8)
  • Bone marrow(4.1)
  • Liver(2.9)
  • Lung(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for F5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • face
  • head
  • mouth
  • nose
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with F5: view

Primer Products

No data available for Protein tissue co-expression partners for F5 Gene

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 34 35
  • 95.69 (n)
dog
(Canis familiaris)
Mammalia F5 34 35
  • 85.12 (n)
cow
(Bos Taurus)
Mammalia F5 34 35
  • 83.11 (n)
mouse
(Mus musculus)
Mammalia F5 34 16 35
  • 78.53 (n)
rat
(Rattus norvegicus)
Mammalia F5 34
  • 74.49 (n)
oppossum
(Monodelphis domestica)
Mammalia F5 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F5 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves F5 34 35
  • 63.68 (n)
lizard
(Anolis carolinensis)
Reptilia F5 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f5 34
  • 61.19 (n)
zebrafish
(Danio rerio)
Actinopterygii f5 34 35
  • 56.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 35
  • 33 (a)
OneToMany
Species where no ortholog for F5 was found in the sources mined by GeneCards:
  • 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

(9) 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
rs118203906 Pathogenic, Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] 169,555,299(-) AACCA(C/G)GAATC reference, missense
rs118203907 Pathogenic, Factor V deficiency (FA5D) [MIM:227400] 169,530,805(-) GGCCT(A/G)CTACT reference, missense
rs118203910 Pathogenic, Factor V deficiency (FA5D) [MIM:227400] 169,518,453(-) GTGCC(C/T)GTCTG reference, missense
rs118203911 Pathogenic, Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] 169,552,693(-) CCAAA(C/T)TGGAA reference, missense
VAR_017329 Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]

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

Variant ID Type Subtype PubMed ID
dgv221n106 CNV tandem duplication 24896259
esv22143 CNV gain+loss 19812545
esv2518089 CNV insertion 19546169
esv3306273 CNV mobile element insertion 20981092
esv3308424 CNV mobile element insertion 20981092
esv3425707 CNV insertion 20981092
nsv1078878 OTHER inversion 25765185
nsv548187 CNV loss 21841781
nsv831871 CNV loss 17160897

Variation tolerance for F5 Gene

Residual Variation Intolerance Score: 95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.62; 98.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for F5 Gene

Human Gene Mutation Database (HGMD)
F5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F5 Gene

Disorders for F5 Gene

MalaCards: The human disease database

(94) MalaCards diseases for F5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
factor v deficiency
  • deficiency, labile
thrombophilia due to activated protein c resistance
  • thrombophilia due to factor v leiden
budd-chiari syndrome
  • hepatic vein thrombosis
stroke, ischemic
  • ischemic stroke
pregnancy loss, recurrent 1
  • pregnancy loss, recurrent, 1
- elite association - COSMIC cancer census association via MalaCards
Search F5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA5_HUMAN
  • 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.
  • Factor V deficiency (FA5D) [MIM:227400]: A blood coagulation disorder leading to a 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.
  • 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.
  • 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:14695241, ECO:0000269 PubMed:9454742}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for F5 Gene

parahemophilia

Relevant External Links for F5

Genetic Association Database (GAD)
F5
Human Genome Epidemiology (HuGE) Navigator
F5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F5
genes like me logo Genes that share disorders with F5: view

Publications for F5 Gene

  1. Risk factors for failure of heparin thromboprophylaxis in patients with acute traumatic spinal cord injury. (PMID: 19853891) Rubin-Asher D. … Lubetsky A. (Thromb. Res. 2010) 3 22 46 64
  2. Impact of genetic polymorphisms on platelet function and aspirin resistance. (PMID: 19923980) Pamukcu B. … Nisanci Y. (Blood Coagul. Fibrinolysis 2010) 3 22 46 64
  3. Coagulation abnormalities in Legg-CalvAc-Perthes disease. (PMID: 20048104) Vosmaer A. … Cannegieter S.C. (J Bone Joint Surg Am 2010) 3 22 46 64
  4. Causal relationship of susceptibility genes to ischemic stroke: comparison to ischemic heart disease and biochemical determinants. (PMID: 20161734) Bentley P. … Sharma P. (PLoS ONE 2010) 3 22 46 64
  5. Congenital thrombotic risk factors in beta-thalassemia. (PMID: 18480081) Sipahi T. … Akar N. (Clin. Appl. Thromb. Hemost. 2009) 3 22 46 64

Products for F5 Gene

Sources for F5 Gene

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