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    F11 coagulation factor XI [ Homo sapiens (human) ]

    Gene ID: 2160, updated on 3-Oct-2021

    Summary

    Official Symbol
    F11provided by HGNC
    Official Full Name
    coagulation factor XIprovided by HGNC
    Primary source
    HGNC:HGNC:3529
    See related
    Ensembl:ENSG00000088926 MIM:264900
    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; PTA
    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]
    Expression
    Biased expression in liver (RPKM 26.4), kidney (RPKM 6.8) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See F11 in Genome Data Viewer
    Location:
    4q35.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (186265964..186290727)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187187343..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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    GeneReviews: Not available
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    GeneReviews: Not available
    Genetics of venous thrombosis: insights from a new genome wide association study.
    GeneReviews: Not available
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    GeneReviews: Not available
    Hereditary factor XI deficiency disease
    MedGen: C0015523 OMIM: 612416 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC141891

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type aminopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in blood coagulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in plasminogen activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fibrinolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    coagulation factor XI
    Names
    coagualtion factor XI
    plasma thromboplastin antecedent
    NP_000119.1
    NP_001341733.1
    XP_005262878.1
    XP_005262879.1
    XP_005262880.1
    XP_006714200.1
    XP_016863373.1
    XP_016863374.1
    XP_016863375.1

    NCBI Reference Sequences (RefSeq)

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    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_000128.4NP_000119.1  coagulation factor XI isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_000119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC110771, DA630863, M13142
      Consensus CDS
      CCDS3847.1
      UniProtKB/Swiss-Prot
      P03951
      Related
      ENSP00000384957.2, ENST00000403665.7
      Conserved Domains (2) summary
      smart00223
      Location:200283
      APPLE; APPLE domain
      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 ...
    2. NM_001354804.2NP_001341733.1  coagulation factor XI isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the C-terminus compared to isoform 1.
      Source sequence(s)
      AC110771, BC029374, DA630863
      Consensus CDS
      CCDS87285.1
      Related
      ENSP00000424479.1, ENST00000492972.6
      Conserved Domains (1) summary
      smart00223
      Location:20103
      APPLE; APPLE domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      186265964..186290727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262821.4XP_005262878.1  coagulation factor XI isoform X1

      Conserved Domains (3) summary
      smart00223
      Location:200283
      APPLE; APPLE domain
      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 ...
    2. XM_005262822.4XP_005262879.1  coagulation factor XI isoform X3

      Conserved Domains (3) summary
      smart00223
      Location:200283
      APPLE; APPLE domain
      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 ...
    3. XM_006714137.3XP_006714200.1  coagulation factor XI isoform X2

      Conserved Domains (3) summary
      smart00223
      Location:200283
      APPLE; APPLE domain
      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 ...
    4. XM_005262823.4XP_005262880.1  coagulation factor XI isoform X4

      Conserved Domains (3) summary
      smart00223
      Location:20103
      APPLE; APPLE domain
      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 ...
    5. XM_017007884.2XP_016863373.1  coagulation factor XI isoform X5

    6. XM_017007885.2XP_016863374.1  coagulation factor XI isoform X5

    7. XM_017007886.2XP_016863375.1  coagulation factor XI isoform X6

    RNA

    1. XR_001741172.2 RNA Sequence

    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 removed because currently there is insufficient support for the transcript and the protein.
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