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    F11 coagulation factor XI [ Homo sapiens (human) ]

    Gene ID: 2160, updated on 2-Nov-2024

    Summary

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    Official Symbol
    F11provided by HGNC
    Official Full Name
    coagulation factor XIprovided by HGNC
    Primary source
    HGNC:HGNC:3529
    See related
    Ensembl:ENSG00000088926 MIM:264900; AllianceGenome:HGNC:3529
    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
    mouse all
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    Genomic context

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    See F11 in Genome Data Viewer
    Location:
    4q35.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186266189..186289681)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189606162..189629664)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187187343..187210835)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22267 Neighboring gene cytochrome P450 family 4 subfamily V member 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:187147168-187147838 Neighboring gene uncharacterized LOC124900873 Neighboring gene kallikrein B1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:187162259-187162864 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:187164453-187164981 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187164982-187165509 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:187170964-187171708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:187185702-187186473 Neighboring gene F11 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187245485-187245986 Neighboring gene solute carrier family 25 member 5 pseudogene 6 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:187292262-187293461 Neighboring gene uncharacterized LOC124900874

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. Guella I, et al. Thromb Haemost, 2008 Mar. PMID 18327400
    2. Characterization of the genetic basis of FXI deficiency in two Turkish patients. Berber E, et al. Haemophilia, 2010 May. PMID 20015217
    3. Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency. Spena S, et al. Thromb Haemost, 2009 Sep. PMID 19718484
    4. Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. Saunders RE, et al. Thromb Haemost, 2009 Aug. PMID 19652879
    5. Factor XI contributes to thrombin generation in the absence of factor XII. Kravtsov DV, et al. Blood, 2009 Jul 9. PMID 19351955, Free PMC Article

    See all (238) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Coagulation factor XI regulates endothelial cell permeability and barrier function in vitro and in vivo.
      Title: Coagulation factor XI regulates endothelial cell permeability and barrier function in vitro and in vivo.
    2. Elevated plasma factor XI is associated with postthrombotic syndrome.
      Title: Elevated plasma factor XI is associated with postthrombotic syndrome.
    3. Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis: The BEAST Study.
      Title: Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis: The BEAST Study.
    4. Factor XI deficiency: phenotypic age-related considerations and clinical approach towards bleeding risk assessment.
      Title: Factor XI deficiency: phenotypic age-related considerations and clinical approach towards bleeding risk assessment.
    5. [Analysis of a Chinese pedigree affected with Hereditary coagulation factor deficiency due to variant of F11 gene].
      Title: [Analysis of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ deficiency due to variant of F11 gene].
    6. Elevated plasma factor XI predicts cardiovascular events in patients with type 2 diabetes: a long-term observational study.
      Title: Elevated plasma factor XI predicts cardiovascular events in patients with type 2 diabetes: a long-term observational study.
    7. A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.
      Title: A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.
    8. The unknown functions of a known protein: the case of coagulation factor XI.
      Title: The unknown functions of a known protein: the case of coagulation factor XI.
    9. Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.
      Title: Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.
    10. Thrombogenic potential of picomolar coagulation factor XIa is mediated by thrombin wave propagation.
      Title: Thrombogenic potential of picomolar coagulation factor XIa is mediated by thrombin wave propagation.
    Submit: New GeneRIF Correction See all GeneRIFs (175)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    EBI GWAS Catalog

    Description
    A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    EBI GWAS Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    EBI GWAS Catalog
    Genetics of venous thrombosis: insights from a new genome wide association study.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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

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    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
    XP_047305767.1
    XP_047305768.1
    XP_047305769.1
    XP_047305770.1
    XP_047305771.1
    XP_047305772.1
    XP_047305773.1
    XP_054205216.1
    XP_054205217.1
    XP_054205218.1
    XP_054205219.1
    XP_054205220.1
    XP_054205221.1
    XP_054205222.1
    XP_054205223.1
    XP_054205224.1
    XP_054205225.1
    XP_054205226.1
    XP_054205227.1
    XP_054205228.1
    XP_054205229.1

    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_000128.4 → NP_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
      D3DP64, P03951, Q4W5C2, Q9Y495
      Related
      ENSP00000384957.2, ENST00000403665.7
      Conserved Domains (2) summary
      smart00223
      Location:200 → 283
      APPLE; APPLE domain
      cd00190
      Location:388 → 618
      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_001354804.2 → NP_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
      UniProtKB/TrEMBL
      D6RB32
      Related
      ENSP00000424479.1, ENST00000492972.6
      Conserved Domains (1) summary
      smart00223
      Location:20 → 103
      APPLE; APPLE domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      186266189..186289681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262821.5 → XP_005262878.1  coagulation factor XI isoform X1

      Conserved Domains (3) summary
      smart00223
      Location:200 → 283
      APPLE; APPLE domain
      smart00020
      Location:388 → 619
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:389 → 619
      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_005262822.5 → XP_005262879.1  coagulation factor XI isoform X4

      Conserved Domains (3) summary
      smart00223
      Location:200 → 283
      APPLE; APPLE domain
      smart00020
      Location:388 → 587
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:389 → 587
      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_047449812.1 → XP_047305768.1  coagulation factor XI isoform X5

    4. XM_006714137.4 → XP_006714200.1  coagulation factor XI isoform X2

      Conserved Domains (3) summary
      smart00223
      Location:200 → 283
      APPLE; APPLE domain
      smart00020
      Location:372 → 603
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:373 → 603
      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_047449811.1 → XP_047305767.1  coagulation factor XI isoform X3

    6. XM_047449813.1 → XP_047305769.1  coagulation factor XI isoform X6

    7. XM_005262823.5 → XP_005262880.1  coagulation factor XI isoform X7

      Conserved Domains (3) summary
      smart00223
      Location:20 → 103
      APPLE; APPLE domain
      smart00020
      Location:298 → 529
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:299 → 529
      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 ...

    8. XM_047449814.1 → XP_047305770.1  coagulation factor XI isoform X8

    9. XM_047449816.1 → XP_047305772.1  coagulation factor XI isoform X10

    10. XM_047449815.1 → XP_047305771.1  coagulation factor XI isoform X9

    11. XM_047449817.1 → XP_047305773.1  coagulation factor XI isoform X11

    12. XM_017007885.3 → XP_016863374.1  coagulation factor XI isoform X12

    13. XM_017007884.3 → XP_016863373.1  coagulation factor XI isoform X12

    14. XM_017007886.3 → XP_016863375.1  coagulation factor XI isoform X13

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      189606162..189629664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349241.1 → XP_054205216.1  coagulation factor XI isoform X1

    2. XM_054349244.1 → XP_054205219.1  coagulation factor XI isoform X4

    3. XM_054349245.1 → XP_054205220.1  coagulation factor XI isoform X5

    4. XM_054349242.1 → XP_054205217.1  coagulation factor XI isoform X2

    5. XM_054349243.1 → XP_054205218.1  coagulation factor XI isoform X3

    6. XM_054349246.1 → XP_054205221.1  coagulation factor XI isoform X6

    7. XM_054349247.1 → XP_054205222.1  coagulation factor XI isoform X7

    8. XM_054349248.1 → XP_054205223.1  coagulation factor XI isoform X8

    9. XM_054349250.1 → XP_054205225.1  coagulation factor XI isoform X10

    10. XM_054349249.1 → XP_054205224.1  coagulation factor XI isoform X9

    11. XM_054349251.1 → XP_054205226.1  coagulation factor XI isoform X11

    12. XM_054349252.1 → XP_054205227.1  coagulation factor XI isoform X12

    13. XM_054349254.1 → XP_054205229.1  coagulation factor XI isoform X13

    14. XM_054349253.1 → XP_054205228.1  coagulation factor XI isoform X12

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P03951.1 GenPept UniProtKB/Swiss-Prot:P03951

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