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Aliases for F11 Gene

Aliases for F11 Gene

  • Coagulation Factor XI 2 3
  • Plasma Thromboplastin Antecedent 2 3 4
  • PTA 3 4
  • FXI 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 hemophilia b. Among its related pathways are Hemostasis 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 HPN.

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

Genomic Location for F11 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn90, Asn126, Asn450, and Asn491
  • Modification sites at PhosphoSitePlus

Other Protein References for F11 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

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

Domains for F11 Gene

Suggested Antigen Peptide Sequences for F11 Gene

Graphical View of Domain Structure for InterPro Entry

P03951

UniProtKB/Swiss-Prot:

FA11_HUMAN :
  • P03951
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

Gene Ontology (GO) - Molecular Function for F11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity NAS 9593722
GO:0005515 protein binding IPI 15545266
GO:0008201 heparin binding IEA --
GO:0070009 serine-type aminopeptidase activity IEA --
genes like me logo Genes that share ontologies with F11: view
genes like me logo Genes that share phenotypes with F11: view

Animal Models for F11 Gene

MGI Knock Outs for F11:

Animal Model Products

No data available for miRNA , Transcription Factor Targeting 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 4
cytosol 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for F11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 89876
GO:0005886 plasma membrane TAS --
GO:0016020 membrane NAS 9593722
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with F11: view

Pathways for F11 Gene

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

Pathways by source for F11 Gene

1 KEGG pathway for F11 Gene
1 R&D Systems pathway for F11 Gene

Gene Ontology (GO) - Biological Process for F11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0007596 blood coagulation TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0030193 regulation of blood coagulation --
GO:0031639 plasminogen activation IDA 89876
genes like me logo Genes that share ontologies with F11: view

Compounds for F11 Gene

(15) Novoseek inferred chemical compound relationships for F11 Gene

Compound -log(P) Hits PubMed IDs
kininogen 84.3 14
fibrinogen 69.2 35
ristocetin 58.3 1
dextran sulfate 55.6 4
desmopressin 46.8 7
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for F11

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for F11

Flow Cytometry Products

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 (42.4) and Pancreas (7.1).

Integrated Proteomics: protein expression 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 expressions with F11: view

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 35
  • 99.36 (n)
  • 99.52 (a)
F11 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia F11 35
  • 83.87 (n)
  • 80.77 (a)
F11 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F11 35
  • 85.1 (n)
  • 85.9 (a)
F11 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F11 35
  • 81.35 (n)
  • 78.3 (a)
F11 16
F11 36
  • 78 (a)
OneToOne
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 -- 36
  • 59 (a)
OneToMany
F11 35
  • 65.65 (n)
  • 60.23 (a)
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)
CG8170 37
  • 36 (a)
eegrTry 37
  • 36 (a)
Tequila 37
  • 37 (a)
CG4613 37
  • 36 (a)
CG13744 37
  • 33 (a)
CG3355 37
  • 36 (a)
CG10663 37
  • 36 (a)
CG6865 37
  • 33 (a)
CG7432 37
  • 36 (a)
CG7829 37
  • 36 (a)
CG4998 37
  • 36 (a)
CG11824 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 MAF
rs1593 -- 186,274,397(-) GTACT(A/T)TTATA intron-variant
rs5964 -- 186,280,117(+) AGCAT(C/T)CCAGG reference, synonymous-codon
rs5965 -- 186,274,298(+) CATTC(A/C/G)AGTGG intron-variant
rs5967 - 186,280,373(+) ATCCT(G/T)CAACG reference, missense
rs5968 - 186,271,750(+) ATCAC(C/T)ATCTG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv461864 CNV Gain 19166990

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

(1) OMIM Diseases for F11 Gene (264900)

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.

(1) University of Copenhagen DISEASES for F11 Gene

(22) Novoseek inferred disease relationships for F11 Gene

Disease -log(P) Hits PubMed IDs
factor xi deficiency 97.8 22
inherited coagulation disorders 82.5 4
bleeding tendency 82.2 14
coagulopathy 79.3 29
coagulation factor deficiency 71.6 2

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

Publications for F11 Gene

  1. Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. (PMID: 1547342) Meijers J.C. … Chung D.W. (Blood 1992) 3 4 23
  2. Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID: 10027710) Alhaq A. … Savidge G. (Br. J. Haematol. 1999) 3 4 23
  3. Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. (PMID: 18005151) Fard-Esfahani P. … Ala F. (Haemophilia 2008) 3 4 23
  4. Heterozygous factor XI deficiency associated with three novel mutations. (PMID: 10606881) Mitchell M. … Alhaq A. (Br. J. Haematol. 1999) 3 4 48
  5. 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

Products for F11 Gene

Sources for F11 Gene

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