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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
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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 Variation Viewer (GRCh37.p13)

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

Gene LinkOut

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