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    F11 coagulation factor XI [ Homo sapiens (human) ]

    Gene ID: 2160, updated on 25-Aug-2016
    Official Symbol
    F11provided by HGNC
    Official Full Name
    coagulation factor XIprovided by HGNC
    Primary source
    HGNC:HGNC:3529
    See related
    Ensembl:ENSG00000088926 HPRD:07524; MIM:264900; Vega:OTTHUMG00000150311
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FXI
    Summary
    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]
    Orthologs
    Location:
    4q35
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (186265945..186290727)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187187099..187210835)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 4 subfamily V member 2 Neighboring gene kallikrein B1 Neighboring gene F11 antisense RNA 1 Neighboring gene solute carrier family 25 member 5 pseudogene 6 Neighboring gene uncharacterized LOC105377596 Neighboring gene RNA, U6 small nuclear 1055, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hereditary factor XI deficiency disease
    MedGen: C0015523 OMIM: 612416 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    NHGRI GWA Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genetics of venous thrombosis: insights from a new genome wide association study.
    NHGRI GWA Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    NHGRI GWA Catalog
    • Blood Clotting Cascade, organism-specific biosystem (from WikiPathways)
      Blood Clotting Cascade, organism-specific biosystemCoagulation is a complex process by which blood forms clots. It is an important part of hemostasis (the cessation of blood loss from a damaged vessel), wherein a damaged blood vessel wall is covered ...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
      Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
      Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystemThe intrinsic pathway of blood clotting connects interactions among kininogen (high molecular weight kininogen, HK), prekallikrein (PK), and factor XII to the activation of clotting factor X by a ser...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC141891

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type aminopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    blood coagulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    blood coagulation, intrinsic pathway TAS
    Traceable Author Statement
    more info
     
    plasminogen activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of fibrinolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    coagulation factor XI
    Names
    PTA
    plasma thromboplastin antecedent
    NP_000119.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008051.1 RefSeqGene

      Range
      5001..28718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_583

    mRNA and Protein(s)

    1. NM_000128.3NP_000119.1  coagulation factor XI preproprotein

      See identical proteins and their annotated locations for NP_000119.1

      Status: REVIEWED

      Source sequence(s)
      AC110771, DA630863, M13142
      Consensus CDS
      CCDS3847.1
      UniProtKB/Swiss-Prot
      P03951
      Related
      ENSP00000384957, OTTHUMP00000197033, ENST00000403665, OTTHUMT00000317519
      Conserved Domains (3) summary
      smart00223
      Location:200283
      APPLE; APPLE domain
      smart00020
      Location:387618
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:388618
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      186265945..186290727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262821.3XP_005262878.1  

      Conserved Domains (3) summary
      smart00020
      Location:388619
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:389619
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      cd01100
      Location:288372
      APPLE_Factor_XI_like; Subfamily of PAN/APPLE-like domains; present in plasma prekallikrein/coagulation factor XI, microneme antigen proteins, and a few prokaryotic proteins. PAN/APPLE domains fulfill diverse biological functions by mediating protein-protein or ...
    2. XM_005262822.3XP_005262879.1  

      Conserved Domains (3) summary
      smart00020
      Location:388587
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:389587
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      cd01100
      Location:288372
      APPLE_Factor_XI_like; Subfamily of PAN/APPLE-like domains; present in plasma prekallikrein/coagulation factor XI, microneme antigen proteins, and a few prokaryotic proteins. PAN/APPLE domains fulfill diverse biological functions by mediating protein-protein or ...
    3. XM_006714137.2XP_006714200.1  

      Conserved Domains (3) summary
      smart00020
      Location:372603
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:373603
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      cd01100
      Location:16100
      APPLE_Factor_XI_like; Subfamily of PAN/APPLE-like domains; present in plasma prekallikrein/coagulation factor XI, microneme antigen proteins, and a few prokaryotic proteins. PAN/APPLE domains fulfill diverse biological functions by mediating protein-protein or ...
    4. XM_005262823.3XP_005262880.1  

      Conserved Domains (3) summary
      smart00020
      Location:298529
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:299529
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      cd01100
      Location:198282
      APPLE_Factor_XI_like; Subfamily of PAN/APPLE-like domains; present in plasma prekallikrein/coagulation factor XI, microneme antigen proteins, and a few prokaryotic proteins. PAN/APPLE domains fulfill diverse biological functions by mediating protein-protein or ...
    5. XM_017007884.1XP_016863373.1  

    6. XM_017007885.1XP_016863374.1  

    7. XM_017007886.1XP_016863375.1  

    RNA

    1. XR_001741172.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      187163556..187187273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_019559.2: Suppressed sequence

      Description
      NM_019559.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.