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F11 Gene

protein-coding   GIFtS: 66
GCID: GC04P187187

Coagulation Factor XI

  See F11-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coagulation Factor XI1 2
Plasma Thromboplastin Antecedent1 2 3
FXI2 3
PTA2 3
EC 3.4.21.273
EC 3.4.218

External Ids:    HGNC: 35291   Entrez Gene: 21602   Ensembl: ENSG000000889267   OMIM: 2649005   UniProtKB: P039513   

Export aliases for F11 gene to outside databases

Previous GC identifers: GC04P188221 GC04P187867 GC04P187771 GC04P187883 GC04P187562 GC04P187424 GC04P182938


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 dominant, and factor xi deficiency, autosomal recessive. GO annotations related to this gene include serine-type aminopeptidase activity and serine-type endopeptidase activity. An important paralog of this gene is TMPRSS11D.

UniProtKB/Swiss-Prot: FA11_HUMAN, P03951
Function: Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor
IX

Gene Wiki entry for F11 (Factor XI) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the F11 gene promoter:
         XBP-1   AP-4   Cdc5   Tal-1beta   E47   PPAR-gamma1   HFH-1   PPAR-gamma2   ZIC2/Zic2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidF11 promoter sequence
   Search Chromatin IP Primers for F11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat F11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q35   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35

F11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F11 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P187187:  view genomic region     (about GC identifiers)

Start:
187,187,099 bp from pter      End:
187,210,835 bp from pter
Size:
23,737 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FA11_HUMAN, P03951 (See protein sequence)
Recommended Name: Coagulation factor XI precursor  
Size: 625 amino acids; 70109 Da
Subunit: Homodimer; disulfide-linked. Forms a heterodimer with SERPINA5. After activation the heavy and light
chains are also linked by a disulfide bond
Selected PDB 3D structures from and Proteopedia for F11 (see all 29):
1XX9 (3D)        1XXD (3D)        1XXF (3D)        1ZHM (3D)        1ZHP (3D)        1ZHR (3D)    
Secondary accessions: D3DP64 Q4W5C2 Q9Y495
Alternative splicing: 2 isoforms:  P03951-1   P03951-2   

Explore the universe of human proteins at neXtProt for F11: NX_P03951

Explore proteomics data for F11 at MOPED

Post-translational modifications: 

  • 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) kininogen1
  • Glycosylation2 at Asn90, Asn126, Asn450, Asn491
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for F11 (P03951) (see all 9)
     CWVTGWG  HPRCLLF  SWGEGCA  GDSGGPL 


    See F11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000119.1  
    ENSEMBL proteins: 
     ENSP00000384957   ENSP00000424479   ENSP00000397401   ENSP00000264691   ENSP00000264692  
    Reactome Protein details: P03951

    F11 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for F11
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    Cloud-Clone Corp. Proteins for F11

     
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    antibodies-online proteins for F11 (9 products) 

     
    antibodies-online peptides for F11

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    antibodies-online antibodies for F11 (41 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR001314 Peptidase_S1A
     IPR000177 Apple
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR003609 Pan_app

    Graphical View of Domain Structure for InterPro Entry P03951

    ProtoNet protein and cluster: P03951

    4 Blocks protein domains:
    IPB000177 Apple domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB003014 N/apple PAN


    UniProtKB/Swiss-Prot: FA11_HUMAN, P03951
    Similarity: Belongs to the peptidase S1 family. Plasma kallikrein subfamily
    Similarity: Contains 4 apple domains
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with F11           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA11_HUMAN, P03951
    Function: Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor
    IX
    Catalytic activity: Selective cleavage of Arg- -Ala and Arg- -Val bonds in factor IX to form factor IXa
    Enzyme regulation: Inhibited by SERPINA5

         Genatlas biochemistry entry for F11:
    coagulation factor XI,80kDa,homodimer of two monomers (plasma thromboplastin antecedent),contact activation
    pathway

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.271

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity NAS9593722
    GO:0005515protein binding IPI15545266
    GO:0008201heparin binding IEA--
    GO:0070009serine-type aminopeptidase activity IEA--
         
    Find genes that share ontologies with F11           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for F11):
     behavior/neurological  cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  muscle  nervous system 
     respiratory system 

    Find genes that share phenotypes with F11           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out F11tm1Gjb for F11

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for F11
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for F11
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for F11

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FA11_HUMAN, P03951: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA89876
    GO:0005886plasma membrane TAS--
    GO:0016020membrane NAS9593722
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with F11           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for F11 About    
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Blood Clotting Cascade0.42
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.00
    2Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    3Complement and coagulation cascades
    Complement and coagulation cascades0.71
    4Hemostasis
    Hemostasis0.43
    5MSP-RON Signaling
    MSP-RON Signaling


    Find genes that share SuperPaths with F11           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for F11
        Blood Coagulation Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for F11
        MSP-RON Signaling
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    1 BioSystems Pathway for F11
        Blood Clotting Cascade


    1 Reactome Pathway for F11
        Intrinsic Pathway


    1 Kegg Pathway  (Kegg details for F11):
        Complement and coagulation cascades

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for F11
    Interactions:

        GeneGlobe Interaction Network for F11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for F11 (P039511, 3 ENSP000002646914) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINA5P051543, ENSP000003332034I2D: score=2 STRING: ENSP00000333203
    F2P007343, ENSP000003085414I2D: score=1 STRING: ENSP00000308541
    HGFP142103, ENSP000002223904I2D: score=1 STRING: ENSP00000222390
    KNG1P010423, ENSP000002650234I2D: score=2 STRING: ENSP00000265023
    SERPINF2P086973, ENSP000003218534I2D: score=1 STRING: ENSP00000321853
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--
    GO:0030193regulation of blood coagulation ----
    GO:0031639plasminogen activation IDA89876

    Find genes that share ontologies with F11           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for F11 (FA11)

    9 DrugBank Compounds for F11    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Coagulation Factor IXChristmas factor (see all 4)9001-28-9targetligand11342438 10593931 659613
    (1R)-2-{[AMINO(IMINO)METHYL]AMINO}-1-{4-[(4R)-4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL]PHENYL}ETHYL NICOTINATE-- --target--10592235
    (R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)BENZYL)GUANIDINE-- --target--10592235
    (R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)PHENETHYL)GUANIDINE-- --target--10592235
    (R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)PHENYL)GUANIDINE-- --target--10592235
    3-HYDROXYPROPYL 3-[({7-[AMINO(IMINO)METHYL]-1-NAPHTHYL}AMINO)CARBONYL]BENZENESULFONATE-- --target--10592235
    4-METHYL-PENTANOIC ACID {1-[4-GUANIDINO-1-(THIAZOLE-2-CARBONYL)-BUTYLCARBAMOYL]-2-METHYL-PROPYL}-AMIDE-- --target--10592235
    6-CARBAMIMIDOYL-4-(3-HYDROXY-2-METHYL-BENZOYLAMINO)-NAPHTHALENE-2-CARBOXYLIC ACID METHYL ESTER-- --target--10592235
    N-(7-CARBAMIMIDOYL-NAPHTHALEN-1-YL)-3-HYDROXY-2-METHYL-BENZAMIDE-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for F11 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 84.3 19 7944388 (1), 11487044 (1), 15007174 (1), 1652157 (1) (see all 14)
    fibrinogen 69.2 39 19290079 (3), 12473138 (2), 11111234 (2), 18409149 (2) (see all 28)
    ristocetin 58.3 4 2111046 (1)
    dextran sulfate 55.6 4 9616153 (1), 15007174 (1), 8603018 (1), 8338946 (1)
    desmopressin 46.8 12 15198739 (5), 8757530 (1), 19609524 (1)
    hirudin 36.9 3 8338946 (3)
    serine 36.3 19 16086308 (2), 9813019 (1), 11171549 (1), 19652879 (1) (see all 10)
    heparin 22.3 8 9813019 (3), 9616153 (1), 9610759 (1), 8603018 (1) (see all 5)
    dermatan sulfate 19.4 2 8603018 (2)
    aprotinin 9.95 3 16430537 (3)



    Find genes that share compounds with F11           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for F11 gene (2 alternative transcripts): 
    NM_000128.3  NM_019559.2  

    Unigene Cluster for F11:

    Coagulation factor XI
    Hs.1430  [show with all ESTs]
    Unigene Representative Sequence: NM_000128
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403665 ENST00000492972(uc003iyz.3) ENST00000514715 ENST00000452239
    ENST00000264691 ENST00000503841 ENST00000264692(uc003iza.1)
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    Additional mRNA sequence: 

    AF045649.1 AK313195.1 BC119014.1 BC122863.1 M13142.1 

    7 DOTS entries:

    DT.109659  DT.95148689  DT.92420278  DT.92420280  DT.92420277  DT.91789182  DT.91820500 

    23 AceView cDNA sequences:

    AL703888 BC074946 BC074947 CB155561 U14108 NM_005958 CB122088 AI204202 
    BI520221 BC038717 AI001834 BC034307 AF435588 BX112166 BU567547 AI138290 
    AI126472 BI459826 AI221202 AI208101 BU194998 BI520849 BG719069 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for F11 (see all 6)    About this scheme

    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:                                                                                            -                                                         


    ECgene alternative splicing isoforms for F11

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    F11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCAAACCTC
    F11 Expression
    About this image

    F11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1430

    UniProtKB/Swiss-Prot: FA11_HUMAN, P03951
    Tissue specificity: Isoform 2 is produced by platelets and megakaryocytes but absent from other blood cells

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for F11 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F111 , 5 coagulation factor XI1, 5 81.35(n)1
    78.3(a)1
      8 (25.14 cM)5
    1098211  NM_028066.11  NP_082342.11 
     452411705 
    chicken
    (Gallus gallus)
    Aves F111 coagulation factor XI 65.65(n)
    60.23(a)
      422723  XM_420678.4  XP_420678.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    53(a)
    1 → many
    5(112144573-112182752)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia klkb11 kallikrein B, plasma (Fletcher factor) 1 55.9(n)
    48.54(a)
      100486524  XM_004911185.1  XP_004911242.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for F11 gene
    TMPRSS11D2  TMPRSS32  TMPRSS11B2  TMPRSS62  TMPRSS11A2  TMPRSS72  TMPRSS52  TMPRSS42  
    ST142  TMPRSS132  TMPRSS11E2  TMPRSS22  KLKB12  HPN2  TMPRSS152  TMPRSS11F2  
    Selected SIMAP similar genes for F11 using alignment to 5 protein entries:     FA11_HUMAN (see all proteins) (see all similar genes):
    MGC52282    KLKB1    F12    DKFZp586F0824    PRSS22    TMPRSS11F
    TMPRSS5    PRSS1    HP    PROC    PROC1    PRSS38
    CTRL    PRSS55    CTRB1    CTRB2    KLK13    KLK9

    Find genes that share paralogs with F11           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for F11 (see all 779)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2818752461,2,,4
    CFactor XI deficiency (FA11D)4 untested1186956268(+) TGGCCA/GAATCT 2 Q R mis10--------
    rs2818752651,2,,4
    CFactor XI deficiency (FA11D)4 untested1186956308(+) ACCTTC/GTTTTC 2 F L mis10--------
    rs1451683511,2,,4
    C,FFactor XI deficiency (FA11D)4 --186960001(+) GCCCAG/ATACAC 2 /N /S mis11Minor allele frequency- A:0.00NA 4534
    rs1219650701,2,,4
    C,FFactor XI deficiency (FA11D)4 pathogenic1186960013(+) CATTAA/TAAAGA 2 K I mis12Minor allele frequency- T:0.00NA EU 5863
    rs1219650641,2,,4
    C,FFactor XI deficiency (FA11D)4 pathogenic1186960206(+) CTGATT/CTCTTG 2 /L /F mis12Minor allele frequency- C:0.00NA EU 5875
    rs2818752691,2,,4
    CFactor XI deficiency (FA11D)4 untested1186960270(+) GTGCAC/TCAATG 2 T I mis10--------
    rs289346081,2,,4
    CFactor XI deficiency (FA11D)4 pathogenic1186960281(+) CCGTCC/TGCTGC 2 R C mis1 ese30--------
    rs1400680261,2,,4
    C,FFactor XI deficiency (FA11D)4 untested1186966388(+) TGCCTA/C/TCCAAA 2 P S mis11NA 4550
    rs289346091,2,,4
    CFactor XI deficiency (FA11D)4 pathogenic1186968465(+) ACGAGA/CTGGGG 2 R S mis10--------
    VAR_0120954
    Factor XI deficiency (FA11D)4--see VAR_0120952 T I mis40--------

    HapMap Linkage Disequilibrium report for F11 (187187099 - 187210835 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for F11:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv461864CNV Gain19166990

    Human Gene Mutation Database (HGMD): F11
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing F11
    DNA2.0 Custom Variant and Variant Library Synthesis for F11

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 264900   
    OMIM disorders: 612416  
    UniProtKB/Swiss-Prot: FA11_HUMAN, P03951
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for F11:    
    About MalaCards
    factor xi deficiency, autosomal dominant    factor xi deficiency, autosomal recessive    factor xi deficiency    acquired hemophilia
    hemophilia b    factor viii deficiency    hemophilia    von willebrand's disease
    afibrinogenemia    venous thrombosis

    1 disease from the University of Copenhagen DISEASES database for F11:
    Factor XI deficiency

    Find genes that share disorders with F11           About GenesLikeMe

    Selected Novoseek inferred disease relationships for F11 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    factor xi deficiency 97.8 24 15182578 (3), 8445157 (2), 17607578 (1), 18832909 (1) (see all 19)
    inherited coagulation disorders 82.5 4 19448217 (1), 16670069 (1), 18839438 (1), 19609524 (1)
    bleeding tendency 82.2 18 14872426 (2), 7631304 (2), 14717969 (1), 17607578 (1) (see all 12)
    coagulopathy 79.3 44 9482440 (2), 18519152 (2), 11127865 (1), 16086308 (1) (see all 27)
    coagulation factor deficiency 71.6 4 16078927 (1), 20139363 (1)
    afibrinogenemia 68.1 3 19174980 (1), 16670069 (1), 16684009 (1)
    hemophilia a 66 7 16424651 (1), 19236780 (1), 10513769 (1), 14717973 (1)
    thrombophilia 65 2 15692250 (1), 14521595 (1)
    bleeding 63.7 86 18384352 (3), 14872426 (2), 8757530 (2), 10027710 (2) (see all 44)
    von willebrand disease 63.3 17 9482440 (3), 10215946 (1), 15357775 (1), 8266918 (1) (see all 7)

    Genatlas disease: F11
    bleeding diathesis,mild,inconstant

    Genetic Association Database (GAD): F11
    Human Genome Epidemiology (HuGE) Navigator: F11 (17 documents)

    Export disorders for F11 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for F11 gene, integrated from 10 sources (see all 335):
    (articles sorted by number of sources associating them with F11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. (PubMed id 11895778)1, 2, 4 Zivelin A....Seligsohn U. (Blood 2002)
    2. Heterozygous factor XI deficiency associated with three novel mutations. (PubMed id 10606881)1, 2, 4 Mitchell M.... Alhaq A. (Br. J. Haematol. 1999)
    3. Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. (PubMed id 18005151)1, 2, 9 Fard-Esfahani P.... Ala F. (Haemophilia 2008)
    4. Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. (PubMed id 1547342)1, 2, 9 Meijers J.C.... Chung D.W. (Blood 1992)
    5. Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PubMed id 10027710)1, 2, 9 Alhaq A.... Savidge G. (Br. J. Haematol. 1999)
    6. A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy. (PubMed id 21999818)1, 2 Girolami A.... Lombardi A.M. (Eur. J. Haematol. 2012)
    7. Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). (PubMed id 22159456)1, 2 Gueguen P.... Le Marechal C. (Thromb. Haemost. 2012)
    8. Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. (PubMed id 21668437)1, 2 Kim J.... Lee K.A. (Clin. Genet. 2012)
    9. Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency. (PubMed id 22322133)1, 2 Tirefort Y.... de Moerloose P. (Blood Coagul. Fibrinolysis 2012)
    10. Genetics of venous thrombosis: insights from a new genome wide association study. (PubMed id 21980494)1, 4 Germain M....Morange P.E. (PLoS ONE 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2160 HGNC: 3529 AceView: MTNR1A Ensembl:ENSG00000088926 euGenes: HUgn2160
    ECgene: F11 Kegg: 2160 H-InvDB: F11

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for F11 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for F11 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Factor_XI
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=F11[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/f11/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for F11 gene:
    Search GeneIP for patents involving F11

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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