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Aliases for F7 Gene

Aliases for F7 Gene

  • Coagulation Factor VII 2 3
  • Coagulation Factor VII (Serum Prothrombin Conversion Accelerator) 2 3 5
  • Eptacog Alfa 2 3 4
  • FVII Coagulation Protein 2 3
  • Proconvertin 3 4
  • EC 3.4.21.21 4 63
  • SPCA 3 4
  • Serum Prothrombin Conversion Accelerator 4
  • Factor VII 2
  • EC 3.4.21 63

External Ids for F7 Gene

Previous GeneCards Identifiers for F7 Gene

  • GC13P112370
  • GC13P108397
  • GC13P112846
  • GC13P111708
  • GC13P112808
  • GC13P113760
  • GC13P094198

Summaries for F7 Gene

Entrez Gene Summary for F7 Gene

  • This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]

GeneCards Summary for F7 Gene

F7 (Coagulation Factor VII) is a Protein Coding gene. Diseases associated with F7 include factor vii deficiency and congenital factor vii deficiency. Among its related pathways are Platelet activation, signaling and aggregation and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is HP.

UniProtKB/Swiss-Prot for F7 Gene

  • Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium.

Gene Wiki entry for F7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F7 Gene

Genomics for F7 Gene

Regulatory Elements for F7 Gene

Promoters for F7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around F7 on UCSC Golden Path with GeneCards custom track

Genomic Location for F7 Gene

Chromosome:
13
Start:
113,105,788 bp from pter
End:
113,120,681 bp from pter
Size:
14,894 bases
Orientation:
Plus strand

Genomic View for F7 Gene

Genes around F7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F7 Gene

Proteins for F7 Gene

  • Protein details for F7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08709-FA7_HUMAN
    Recommended name:
    Coagulation factor VII
    Protein Accession:
    P08709
    Secondary Accessions:
    • B0YJC8
    • Q14339
    • Q5JVF1
    • Q5JVF2
    • Q9UD52
    • Q9UD53
    • Q9UD54

    Protein attributes for F7 Gene

    Size:
    466 amino acids
    Molecular mass:
    51594 Da
    Quaternary structure:
    • Heterodimer of a light chain and a heavy chain linked by a disulfide bond.

    Three dimensional structures from OCA and Proteopedia for F7 Gene

    Alternative splice isoforms for F7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for F7 Gene

Proteomics data for F7 Gene at MOPED

Post-translational modifications for F7 Gene

  • Can be either O-glucosylated or O-xylosylated at Ser-112 by POGLUT1 in vitro.
  • O- and N-glycosylated. N-glycosylation at Asn-205 occurs cotranslationally and is mediated by STT3A-containing complexes, while glycosylation at Asn-382 is post-translational and is mediated STT3B-containing complexes before folding. O-fucosylated by POFUT1 on a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines.
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind calcium.
  • Glycosylation at Ser 112, Ser 120, Asn 205, and Asn 382
  • Modification sites at PhosphoSitePlus

Other Protein References for F7 Gene

Antibody Products

  • R&D Systems Antibodies for F7 (Coagulation Factor VII)

Protein Products

Domains & Families for F7 Gene

Gene Families for F7 Gene

Suggested Antigen Peptide Sequences for F7 Gene

Graphical View of Domain Structure for InterPro Entry

P08709

UniProtKB/Swiss-Prot:

FA7_HUMAN :
  • Contains 2 EGF-like domains.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 2 EGF-like domains.
  • Contains 1 Gla (gamma-carboxy-glutamate) domain.
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with F7: view

Function for F7 Gene

Molecular function for F7 Gene

GENATLAS Biochemistry:
coagulation factor VII,vitamin K-dependent (serum protein conversion accelerator),the active form being generated by the cleavage of Arg152-Ile153 peptide bond and complexing to cofactor F3 of tissue factor
UniProtKB/Swiss-Prot CatalyticActivity:
Selective cleavage of Arg- -Ile bond in factor X to form factor Xa.
UniProtKB/Swiss-Prot Function:
Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium.

Enzyme Numbers (IUBMB) for F7 Gene

Gene Ontology (GO) - Molecular Function for F7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
genes like me logo Genes that share ontologies with F7: view
genes like me logo Genes that share phenotypes with F7: view

Human Phenotype Ontology for F7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F7 Gene

MGI Knock Outs for F7:
  • F7 tm1Pec
  • F7 tm1b(EUCOMM)Hmgu

Animal Model Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for F7 Gene

Localization for F7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F7 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for F7 Gene COMPARTMENTS Subcellular localization image for F7 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
plasma membrane 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for F7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with F7: view

Pathways & Interactions for F7 Gene

genes like me logo Genes that share pathways with F7: view

Gene Ontology (GO) - Biological Process for F7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002690 positive regulation of leukocyte chemotaxis IDA 17991872
GO:0006508 proteolysis IEA --
GO:0007596 blood coagulation IEA,TAS 3037537
GO:0007598 blood coagulation, extrinsic pathway TAS --
GO:0009725 response to hormone IEA --
genes like me logo Genes that share ontologies with F7: view

No data available for SIGNOR curated interactions for F7 Gene

Drugs & Compounds for F7 Gene

(24) Drugs for F7 Gene - From: Novoseek, DrugBank, ApexBio, HMDB, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Menadione Approved Nutra Target, activator 199
Coagulation Factor IX Approved Pharma Target, ligand 0
Coagulation factor VIIa Approved Pharma Target 0
Rivaroxaban Approved Pharma Factor Xa inhibitor 215
(2R)-({4-[AMINO(IMINO)METHYL]PHENYL}AMINO){5-ETHOXY-2-FLUORO-3-[(3R)-TETRAHYDROFURAN-3-YLOXY]PHENYL}ACETICACID Experimental Pharma Target 0

(8) Additional Compounds for F7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with F7: view

Transcripts for F7 Gene

Unigene Clusters for F7 Gene

Coagulation factor VII (serum prothrombin conversion accelerator):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for F7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
SP1: -
SP2: - -
SP3: - - - -
SP4: - -
SP5:

Relevant External Links for F7 Gene

GeneLoc Exon Structure for
F7
ECgene alternative splicing isoforms for
F7

Expression for F7 Gene

mRNA expression in normal human tissues for F7 Gene

mRNA differential expression in normal tissues according to GTEx for F7 Gene

This gene is overexpressed in Liver (x46.1).

Protein differential expression in normal tissues from HIPED for F7 Gene

This gene is overexpressed in Plasma (33.9) and Serum (28.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for F7 Gene



SOURCE GeneReport for Unigene cluster for F7 Gene Hs.36989

mRNA Expression by UniProt/SwissProt for F7 Gene

P08709-FA7_HUMAN
Tissue specificity: Plasma.
genes like me logo Genes that share expression patterns with F7: view

Protein tissue co-expression partners for F7 Gene

- Elite partner

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for F7 Gene

Orthologs for F7 Gene

This gene was present in the common ancestor of animals.

Orthologs for F7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia F7 36
  • 98 (a)
OneToOne
F7 35
  • 98.72 (n)
  • 98.65 (a)
cow
(Bos Taurus)
Mammalia F7 36
  • 69 (a)
OneToOne
F7 35
  • 77.36 (n)
  • 70.02 (a)
dog
(Canis familiaris)
Mammalia F7 35
  • 81.35 (n)
  • 75.99 (a)
F7 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F7 16
F7 35
  • 77.25 (n)
  • 71.33 (a)
F7 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia F7 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F7 35
  • 77.3 (n)
  • 70.5 (a)
chicken
(Gallus gallus)
Aves F7 35
  • 59.78 (n)
  • 57.71 (a)
F7 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F7 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f7 35
  • 57.98 (n)
  • 57.07 (a)
zebrafish
(Danio rerio)
Actinopterygii F7 36
  • 45 (a)
OneToOne
-- 35
zgc:163025 35
  • 57.51 (n)
  • 49.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13744 37
  • 35 (a)
CG9294 37
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
Species with no ortholog for F7:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 F7 Gene

ENSEMBL:
Gene Tree for F7 (if available)
TreeFam:
Gene Tree for F7 (if available)

Paralogs for F7 Gene

Paralogs for F7 Gene

genes like me logo Genes that share paralogs with F7: view

Variants for F7 Gene

Sequence variations from dbSNP and Humsavar for F7 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_006497 Factor VII deficiency (FA7D)
rs150525536 Factor VII deficiency (FA7D) 113,113,946(+) GGGCC(A/G)GAACT nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_006499 Factor VII deficiency (FA7D)
VAR_006500 Factor VII deficiency (FA7D)
VAR_006501 Factor VII deficiency (FA7D)

Structural Variations from Database of Genomic Variants (DGV) for F7 Gene

Variant ID Type Subtype PubMed ID
nsv901039 CNV Loss 21882294
dgv1797n71 CNV Loss 21882294
dgv1798n71 CNV Loss 21882294
nsv901049 CNV Loss 21882294
nsv518044 CNV Gain 19592680
nsv901053 CNV Loss 21882294
dgv1800n71 CNV Loss 21882294
nsv832724 CNV Loss 17160897
nsv818996 CNV Gain 17921354
esv22720 CNV Loss 19812545
esv1703089 CNV Insertion 17803354
esv2748244 CNV Deletion 23290073
esv1400714 CNV Insertion 17803354
esv2748245 CNV Deletion 23290073
esv2748246 CNV Deletion 23290073
esv1083485 CNV Insertion 17803354
esv2748247 CNV Deletion 23290073
esv2748248 CNV Deletion 23290073
esv2748249 CNV Deletion 23290073
esv2748250 CNV Deletion 23290073
esv5028 CNV Deletion 18987735
dgv277e201 CNV Deletion 23290073
dgv278e201 CNV Deletion 23290073
esv2748258 CNV Deletion 23290073
esv2748259 CNV Deletion 23290073
esv2748260 CNV Deletion 23290073
nsv64704 CNV Loss 16902084
nsv901060 CNV Gain 21882294
dgv1801n71 CNV Gain 21882294

Variation tolerance for F7 Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for F7 Gene

HapMap Linkage Disequilibrium report
F7
Human Gene Mutation Database (HGMD)
F7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F7 Gene

Disorders for F7 Gene

MalaCards: The human disease database

(37) MalaCards diseases for F7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
factor vii deficiency
  • deficiency, stable
congenital factor vii deficiency
  • factor vii deficiency
myocardial infarction
  • myocardial infarction, protection against
hemophilia a
  • factor viii deficiency
factor v deficiency
  • deficiency, labile
- elite association - COSMIC cancer census association via MalaCards
Search F7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA7_HUMAN
  • Factor VII deficiency (FA7D) [MIM:227500]: A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels. {ECO:0000269 PubMed:10862079, ECO:0000269 PubMed:11091194, ECO:0000269 PubMed:11129332, ECO:0000269 PubMed:12472587, ECO:0000269 PubMed:14717781, ECO:0000269 PubMed:1634227, ECO:0000269 PubMed:18976247, ECO:0000269 PubMed:19432927, ECO:0000269 PubMed:19751712, ECO:0000269 PubMed:2070047, ECO:0000269 PubMed:21206266, ECO:0000269 PubMed:21372693, ECO:0000269 PubMed:7974346, ECO:0000269 PubMed:7981691, ECO:0000269 PubMed:8043443, ECO:0000269 PubMed:8204879, ECO:0000269 PubMed:8364544, ECO:0000269 PubMed:8652821, ECO:0000269 PubMed:8844208, ECO:0000269 PubMed:8883260, ECO:0000269 PubMed:8940045, ECO:0000269 PubMed:9414278, ECO:0000269 PubMed:9452082, ECO:0000269 PubMed:9576180}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for F7 Gene

hypoproconvertinemia

Relevant External Links for F7

Genetic Association Database (GAD)
F7
Human Genome Epidemiology (HuGE) Navigator
F7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F7
genes like me logo Genes that share disorders with F7: view

Publications for F7 Gene

  1. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. (PMID: 18976247) Herrmann F.H. … Salazar-Sanchez L. (Haemophilia 2009) 3 4 48 67
  2. Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency. (PMID: 19822353) Tanaka R. … Kojima T. (Thromb. Res. 2010) 3 23
  3. High-level expression of functional recombinant human coagulation factor VII in insect cells. (PMID: 20213530) Masroori N. … Habibi Roudkenar M. (Biotechnol. Lett. 2010) 3 23
  4. The effect of nine common polymorphisms in coagulation factor genes (F2, F5, F7, F12 and F13 ) on the effectiveness of statins: the GenHAT study. (PMID: 19415820) Maitland-van der Zee A.H. … Eckfeldt J.H. (Pharmacogenet. Genomics 2009) 3 23
  5. [The connection between Arg353Gln polymorphism of coagulation factor VII and recurrent miscarriages]. (PMID: 19323053) Seremak-Mrozikiewicz A. … Mrozikiewicz P.M. (Ginekol. Pol. 2009) 3 23

Products for F7 Gene

Sources for F7 Gene

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