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Aliases for F11 Gene

Aliases for F11 Gene

  • Coagulation Factor XI 2 3 5
  • Plasma Thromboplastin Antecedent 2 3 4
  • FXI 3 4
  • PTA 3 4
  • EC 3.4.21.27 4
  • EC 3.4.21 63

External Ids for F11 Gene

Previous GeneCards Identifiers for F11 Gene

  • GC04P188221
  • GC04P187867
  • GC04P187771
  • GC04P187883
  • GC04P187562
  • GC04P187424
  • GC04P187187
  • GC04P182938

Summaries for F11 Gene

Entrez Gene Summary for F11 Gene

  • This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]

GeneCards Summary for F11 Gene

F11 (Coagulation Factor XI) is a Protein Coding gene. Diseases associated with F11 include factor xi deficiency, autosomal recessive and bleeding disorder, platelet-type, 15. Among its related pathways are Platelet activation, signaling and aggregation and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include serine-type endopeptidase activity and serine-type aminopeptidase activity. An important paralog of this gene is TMPRSS11A.

UniProtKB/Swiss-Prot for F11 Gene

  • Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.

Gene Wiki entry for F11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F11 Gene

Genomics for F11 Gene

Regulatory Elements for F11 Gene

Promoters for F11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around F11 on UCSC Golden Path with GeneCards custom track

Genomic Location for F11 Gene

Chromosome:
4
Start:
186,265,945 bp from pter
End:
186,289,681 bp from pter
Size:
23,737 bases
Orientation:
Plus strand

Genomic View for F11 Gene

Genes around F11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F11 Gene

Proteins for F11 Gene

  • Protein details for F11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03951-FA11_HUMAN
    Recommended name:
    Coagulation factor XI
    Protein Accession:
    P03951
    Secondary Accessions:
    • D3DP64
    • Q4W5C2
    • Q9Y495

    Protein attributes for F11 Gene

    Size:
    625 amino acids
    Molecular mass:
    70109 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Forms a heterodimer with SERPINA5. After activation the heavy and light chains are also linked by a disulfide bond.

    Three dimensional structures from OCA and Proteopedia for F11 Gene

    Alternative splice isoforms for F11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for F11 Gene

Proteomics data for F11 Gene at MOPED

Selected DME Specific Peptides for F11 Gene

Post-translational modifications for F11 Gene

  • Activated by factor XIIa (or XII), which cleaves each polypeptide after Arg-387 into the light chain, which contains the active site, and the heavy chain, which associates with high molecular weight (HMW) kininogen.
  • N-glycosylated on both chains. N-glycosylated sites mainly consist of nonfucosylated sialylated biantennary (in high abundance) and/or triantennary (in low abundance) complex structures. Glycosylation at Asn-163 uses a rare non-canonical Asn-X-Cys glycosite.
  • Glycosylation at Asn 90, Asn 126, Asn 163, Asn 353, Asn 450, and Asn 491
  • Modification sites at PhosphoSitePlus

Other Protein References for F11 Gene

Antibody Products

  • R&D Systems Antibodies for F11 (Coagulation Factor XI)

Domains & Families for F11 Gene

Suggested Antigen Peptide Sequences for F11 Gene

Graphical View of Domain Structure for InterPro Entry

P03951

UniProtKB/Swiss-Prot:

FA11_HUMAN :
  • Contains 4 apple domains.
  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
Domain:
  • Contains 4 apple domains.
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
genes like me logo Genes that share domains with F11: view

No data available for Gene Families for F11 Gene

Function for F11 Gene

Molecular function for F11 Gene

GENATLAS Biochemistry:
coagulation factor XI,80kDa,homodimer of two monomers (plasma thromboplastin antecedent),contact activation pathway
UniProtKB/Swiss-Prot CatalyticActivity:
Selective cleavage of Arg- -Ala and Arg- -Val bonds in factor IX to form factor IXa.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPINA5.
UniProtKB/Swiss-Prot Function:
Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.

Enzyme Numbers (IUBMB) for F11 Gene

genes like me logo Genes that share phenotypes with F11: view

Human Phenotype Ontology for F11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F11 Gene

MGI Knock Outs for F11:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for F11 Gene

Localization for F11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F11 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for F11 Gene COMPARTMENTS Subcellular localization image for F11 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for F11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with F11: view

Pathways & Interactions for F11 Gene

genes like me logo Genes that share pathways with F11: view

Pathways by source for F11 Gene

Gene Ontology (GO) - Biological Process for F11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0031639 plasminogen activation IDA 89876
genes like me logo Genes that share ontologies with F11: view

No data available for SIGNOR curated interactions for F11 Gene

Drugs & Compounds for F11 Gene

(17) Drugs for F11 Gene - From: Novoseek, DrugBank, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coagulation Factor IX Approved Pharma Target, ligand 0
(1R)-2-{[AMINO(IMINO)METHYL]AMINO}-1-{4-[(4R)-4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL]PHENYL}ETHYL NICOTINATE Experimental Pharma Target 0
(R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)BENZYL)GUANIDINE Experimental Pharma Target 0
(R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)PHENETHYL)GUANIDINE Experimental Pharma Target 0
(R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)PHENYL)GUANIDINE Experimental Pharma Target 0

(10) Additional Compounds for F11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with F11: view

Transcripts for F11 Gene

Unigene Clusters for F11 Gene

Coagulation factor XI:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for F11 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b
SP1: - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: -
SP6: -

Relevant External Links for F11 Gene

GeneLoc Exon Structure for
F11
ECgene alternative splicing isoforms for
F11

Expression for F11 Gene

mRNA expression in normal human tissues for F11 Gene

mRNA differential expression in normal tissues according to GTEx for F11 Gene

This gene is overexpressed in Liver (x42.4) and Pancreas (x7.1).

Protein differential expression in normal tissues from HIPED for F11 Gene

This gene is overexpressed in Serum (38.7) and Plasma (23.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for F11 Gene



SOURCE GeneReport for Unigene cluster for F11 Gene Hs.1430

mRNA Expression by UniProt/SwissProt for F11 Gene

P03951-FA11_HUMAN
Tissue specificity: Isoform 2 is produced by platelets and megakaryocytes but absent from other blood cells.
genes like me logo Genes that share expression patterns with F11: view

Protein tissue co-expression partners for F11 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for F11 Gene

Orthologs for F11 Gene

This gene was present in the common ancestor of animals.

Orthologs for F11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia F11 36
  • 100 (a)
OneToOne
F11 35
  • 99.36 (n)
  • 99.52 (a)
cow
(Bos Taurus)
Mammalia F11 35
  • 83.87 (n)
  • 80.77 (a)
F11 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F11 36
  • 85 (a)
OneToOne
F11 35
  • 85.1 (n)
  • 85.9 (a)
mouse
(Mus musculus)
Mammalia F11 16
F11 36
  • 78 (a)
OneToOne
F11 35
  • 81.35 (n)
  • 78.3 (a)
oppossum
(Monodelphis domestica)
Mammalia F11 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F11 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F11 35
  • 72.69 (n)
  • 68.85 (a)
chicken
(Gallus gallus)
Aves F11 35
  • 65.65 (n)
  • 60.23 (a)
-- 36
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia klkb1 35
  • 55.9 (n)
  • 48.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta BEST:GH02921 37
  • 33 (a)
CG10663 37
  • 36 (a)
CG11824 37
  • 37 (a)
CG13744 37
  • 33 (a)
CG3355 37
  • 36 (a)
CG4613 37
  • 36 (a)
CG4998 37
  • 36 (a)
CG6865 37
  • 33 (a)
CG7432 37
  • 36 (a)
CG7829 37
  • 36 (a)
CG8170 37
  • 36 (a)
eegrTry 37
  • 36 (a)
Tequila 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea C07G1.1 37
  • 37 (a)
Species with no ortholog for F11:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • zebrafish (Danio rerio)

Evolution for F11 Gene

ENSEMBL:
Gene Tree for F11 (if available)
TreeFam:
Gene Tree for F11 (if available)

Paralogs for F11 Gene

genes like me logo Genes that share paralogs with F11: view

Variants for F11 Gene

Sequence variations from dbSNP and Humsavar for F11 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs121965064 Factor XI deficiency (FA11D) 186,280,258(+) CTGAT(C/T)TCTTG intron-variant, nc-transcript-variant, reference, missense
rs5968 - 186,271,750(+) ATCAC(C/T)ATCTG nc-transcript-variant, reference, missense
rs5969 - 186,276,366(+) TTCCC(A/G)GGAAT intron-variant, nc-transcript-variant, reference, missense
rs5972 - 186,280,279(+) TGGAT(A/T)TTGTT nc-transcript-variant, reference, missense
rs5967 - 186,280,373(+) ATCCT(G/T)CAACG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for F11 Gene

Variant ID Type Subtype PubMed ID
nsv461864 CNV Gain 19166990

Variation tolerance for F11 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for F11 Gene

HapMap Linkage Disequilibrium report
F11
Human Gene Mutation Database (HGMD)
F11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F11 Gene

Disorders for F11 Gene

MalaCards: The human disease database

(12) MalaCards diseases for F11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
factor xi deficiency, autosomal recessive
  • factor xi deficiency, autosomal dominant
bleeding disorder, platelet-type, 15
  • bleeding disorder, platelet-type 15
lemierre's syndrome
  • acute sore throat
acquired thrombocytopenia
  • secondary thrombocytopenia
hemophilia b
  • congenital factor ix deficiency
- elite association - COSMIC cancer census association via MalaCards
Search F11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA11_HUMAN
  • Factor XI deficiency (FA11D) [MIM:612416]: A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate. {ECO:0000269 PubMed:10027710, ECO:0000269 PubMed:10606881, ECO:0000269 PubMed:11895778, ECO:0000269 PubMed:15026311, ECO:0000269 PubMed:15180874, ECO:0000269 PubMed:1547342, ECO:0000269 PubMed:15953011, ECO:0000269 PubMed:16607084, ECO:0000269 PubMed:18005151, ECO:0000269 PubMed:21457405, ECO:0000269 PubMed:21668437, ECO:0000269 PubMed:21999818, ECO:0000269 PubMed:22016685, ECO:0000269 PubMed:22159456, ECO:0000269 PubMed:22322133, ECO:0000269 PubMed:2813350, ECO:0000269 PubMed:7669672, ECO:0000269 PubMed:7888672, ECO:0000269 PubMed:9401068, ECO:0000269 PubMed:9787168}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for F11 Gene

bleeding diathesis,mild,inconstant

Relevant External Links for F11

Genetic Association Database (GAD)
F11
Human Genome Epidemiology (HuGE) Navigator
F11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F11
genes like me logo Genes that share disorders with F11: view

Publications for F11 Gene

  1. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. (PMID: 11895778) Zivelin A. … Seligsohn U. (Blood 2002) 3 4 48 67
  2. Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA. (PMID: 20042724) Asselta R. … Duga S. (Blood 2010) 3 23
  3. Factor XI contributes to thrombin generation in the absence of factor XII. (PMID: 19351955) Kravtsov D.V. … Gailani D. (Blood 2009) 3 23
  4. Genetic variants associated with deep vein thrombosis: the F11 locus. (PMID: 19583818) Li Y. … Rosendaal F.R. (J. Thromb. Haemost. 2009) 3 23
  5. Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. (PMID: 19652879) Saunders R.E. … Perkins S.J. (Thromb. Haemost. 2009) 3 23

Products for F11 Gene

Sources for F11 Gene

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