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 e... See more...

Aliases for F11 Gene

Aliases for F11 Gene

  • Coagulation Factor XI 2 3 4 5
  • Plasma Thromboplastin Antecedent 2 3 4
  • FXI 2 3 4
  • PTA 3 4
  • Coagualtion Factor XI 3
  • EC 4
  • EC 3.4.21 50
  • F11 5

External Ids for F11 Gene

Previous GeneCards Identifiers for F11 Gene

  • GC04P188221
  • GC04P187867
  • GC04P187771
  • GC04P187883
  • GC04P187562
  • GC04P187424
  • GC04P187187
  • GC04P182938

Summaries for F11 Gene

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 and Hemorrhagic Disease. Among its related pathways are Collagen chain trimerization and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type aminopeptidase activity. An important paralog of this gene is KLKB1.

UniProtKB/Swiss-Prot Summary for F11 Gene

  • Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.

Gene Wiki entry for F11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for F11 Gene

Genomics for F11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for F11 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J186264 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 256.8 +0.2 209 2.8 CEBPA YY1 MXD4 HOMEZ THAP11 FOXA2 KDM6A SMAD4 RXRA SAP130 F11 lnc-KLKB1-2 KLKB1 HSALNG0039172 ENSG00000272297
GH04J186246 Enhancer 1 Ensembl ENCODE dbSUPER 8.2 -16.7 -16664 6.6 POLR2A YY1 RXRA ZNF585B HNF4A TAF1 CHD1 REST MAX SP1 HSALNG0039164 HSALNG0039165 HSALNG0039166 piR-30782-003 KLKB1 CYP4V2 F11 KY945944
GH04J186240 Enhancer 0.8 Ensembl ENCODE dbSUPER 7.2 -22.9 -22869 5.3 POLR2A ZNF585B TAF1 SIN3A NANOG CHD2 KY945944 piR-30782-002 piR-38129-084 CYP4V2 KLKB1 F11 HSALNG0039164 piR-30782-003
GH04J186226 Enhancer 0.5 Ensembl 6.1 -39.1 -39064 0.6 ATF3 RXRA HNF4A MAX SP1 ZFP3 IRF2 HNF4G CREB1 HSALNG0039162 CYP4V2 F11 KLKB1 KY945944
GH04J186260 Enhancer 1 Ensembl ENCODE 0.4 -5.1 -5061 1.8 CEBPA ATF3 CHD4 YY1 MXD4 KLF11 KMT2B THAP11 FOXA2 KDM6A HSALNG0039168 KLKB1 CYP4V2 HSALNG0039169 F11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around F11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for F11

Top Transcription factor binding sites by QIAGEN in the F11 gene promoter:
  • AP-4
  • Cdc5
  • E47
  • HFH-1
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1beta
  • XBP-1
  • ZIC2
  • Zic3

Genomic Locations for F11 Gene

Latest Assembly
24,764 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
23,493 bases
Plus strand

(GRCh37/hg19 by Ensembl)
23,737 bases
Plus strand

Genomic View for F11 Gene

Genes around F11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F11 Gene

Proteins for F11 Gene

  • Protein details for F11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coagulation factor XI
    Protein Accession:
    Secondary Accessions:
    • D3DP64
    • Q4W5C2
    • Q9Y495

    Protein attributes for F11 Gene

    625 amino acids
    Molecular mass:
    70109 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Forms a heterodimer with SERPINA5. After activation the heavy and light chains are also linked by a disulfide bond.

    Three dimensional structures from OCA and Proteopedia for F11 Gene

    Alternative splice isoforms for F11 Gene


neXtProt entry for F11 Gene

Selected DME Specific Peptides for F11 Gene


Post-translational modifications for F11 Gene

  • N-glycosylated on both chains. N-glycosylated sites mainly consist of nonfucosylated sialylated biantennary (in high abundance) and/or triantennary (in low abundance) complex structures. Glycosylation at Asn-163 uses a rare non-canonical Asn-X-Cys glycosite.
  • 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) kininogen.
  • Glycosylation at Asn90, Asn163, Asn126, Asn450, and Asn491
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FA11_HUMAN (818)

Domains & Families for F11 Gene

Gene Families for F11 Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for F11 Gene

  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • N/apple PAN
  • Apple domain

Suggested Antigen Peptide Sequences for F11 Gene

GenScript: Design optimal peptide antigens:
  • Plasma thromboplastin antecedent (FA11_HUMAN)
  • Coagulation factor XI (Q9UEG0_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
genes like me logo Genes that share domains with F11: view

Function for F11 Gene

Molecular function for F11 Gene

UniProtKB/Swiss-Prot Function:
Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Selective cleavage of Arg-|-Ala and Arg-|-Val bonds in factor IX to form factor IXa.; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPINA5.
GENATLAS Biochemistry:
coagulation factor XI,80kDa,homodimer of two monomers (plasma thromboplastin antecedent),contact activation pathway

Enzyme Numbers (IUBMB) for F11 Gene

Phenotypes From GWAS Catalog for F11 Gene

Gene Ontology (GO) - Molecular Function for F11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS,NAS 9593722
GO:0005515 protein binding IPI 2844223
GO:0008201 heparin binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with F11: view
genes like me logo Genes that share phenotypes with F11: view

Human Phenotype Ontology for F11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F11 Gene

MGI Knock Outs for F11:
  • F11 F11<tm1Gjb>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F11

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for F11 Gene

Localization for F11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F11 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F11 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for F11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 89876
GO:0005886 plasma membrane TAS --
GO:0016020 membrane NAS 9593722
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with F11: view

Pathways & Interactions for F11 Gene

genes like me logo Genes that share pathways with F11: view

Pathways by source for F11 Gene

1 R&D Systems pathway for F11 Gene
3 Qiagen pathways for F11 Gene
  • Blood Coagulation Cascade
  • Intrinsic Prothrombin Activation Pathway
  • MSP-RON Signaling

SIGNOR curated interactions for F11 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for F11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007596 blood coagulation IDA,NAS 9593722
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0007599 hemostasis IEA --
GO:0030193 regulation of blood coagulation IEA --
genes like me logo Genes that share ontologies with F11: view

Drugs & Compounds for F11 Gene

(27) Drugs for F11 Gene - From: DrugBank, PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coagulation Factor IX (Recombinant) Approved, Investigational Pharma Target, ligand 0
Coagulation Factor IX Human Approved Pharma Target, ligand 0
Conestat alfa Approved, Investigational Pharma Target, inhibitor 0
Human C1-esterase inhibitor Approved Pharma Target, inhibitor 0
Human thrombin Approved Pharma Target, activator 0

(8) Additional Compounds for F11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with F11: view

Transcripts for F11 Gene

mRNA/cDNA for F11 Gene

8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F11

Alternative Splicing Database (ASD) splice patterns (SP) for F11 Gene

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: - - -
SP5: -
SP6: -

Relevant External Links for F11 Gene

GeneLoc Exon Structure for

Expression for F11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for F11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F11 Gene

This gene is overexpressed in Liver (x42.4) and Pancreas (x7.1).

Protein differential expression in normal tissues from HIPED for F11 Gene

This gene is overexpressed in Serum (38.7) and Plasma (23.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for F11 Gene

Protein tissue co-expression partners for F11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F11

SOURCE GeneReport for Unigene cluster for F11 Gene:


mRNA Expression by UniProt/SwissProt for F11 Gene:

Tissue specificity: Isoform 2 is produced by platelets and megakaryocytes but absent from other blood cells.

Evidence on tissue expression from TISSUES for F11 Gene

  • Liver(4.7)
  • Bone marrow(4.2)
  • Blood(2.8)
  • Kidney(2.4)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for F11 Gene

Germ Layers:
  • mesoderm
  • cardiovascular
  • blood
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with F11: view

Primer products for research

Orthologs for F11 Gene

This gene was present in the common ancestor of animals.

Orthologs for F11 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia F11 29 30
  • 99.36 (n)
(Canis familiaris)
Mammalia F11 29 30
  • 85.1 (n)
(Bos Taurus)
Mammalia F11 29 30
  • 83.87 (n)
(Mus musculus)
Mammalia F11 29 16 30
  • 81.35 (n)
(Rattus norvegicus)
Mammalia F11 29
  • 72.69 (n)
(Monodelphis domestica)
Mammalia F11 30
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia F11 30
  • 56 (a)
(Gallus gallus)
Aves F11 29
  • 65.65 (n)
-- 30
  • 59 (a)
(Anolis carolinensis)
Reptilia -- 30
  • 53 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia klkb1 29
  • 55.9 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG11824 31
  • 37 (a)
Tequila 31
  • 37 (a)
CG10663 31
  • 36 (a)
CG3355 31
  • 36 (a)
CG4613 31
  • 36 (a)
CG4998 31
  • 36 (a)
CG7432 31
  • 36 (a)
CG7829 31
  • 36 (a)
CG8170 31
  • 36 (a)
&eegr;Try 31
  • 36 (a)
BEST:GH02921 31
  • 33 (a)
CG13744 31
  • 33 (a)
CG6865 31
  • 33 (a)
(Caenorhabditis elegans)
Secernentea C07G1.1 31
  • 37 (a)
Species where no ortholog for F11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for F11 Gene

Gene Tree for F11 (if available)
Gene Tree for F11 (if available)
Evolutionary constrained regions (ECRs) for F11: view image
Alliance of Genome Resources:
Additional Orthologs for F11

Paralogs for F11 Gene

Variants for F11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for F11 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1012723 Uncertain Significance: not provided 186,274,224(+) A/G
NM_000128.4(F11):c.434A>G (p.His145Arg)
1012724 Likely Benign: not provided 186,288,482(+) A/G
NM_000128.4(F11):c.1746A>G (p.Lys582=)
1034079 Pathogenic: Hereditary factor XI deficiency disease 186,280,386(+) G/T
835116 Pathogenic: not provided 186,274,238(+) ACG/A
NM_000128.4(F11):c.449_450del (p.Thr150fs)
838891 Pathogenic: not provided 186,285,781(+) TG/T
NM_000128.4(F11):c.1449del (p.Leu483fs)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for F11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for F11 Gene

Variant ID Type Subtype PubMed ID
nsv1028146 CNV gain 25217958
nsv1034638 CNV loss 25217958
nsv1131852 CNV deletion 24896259
nsv461864 CNV gain 19166990
nsv596392 CNV gain 21841781
nsv596401 CNV loss 21841781

Variation tolerance for F11 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for F11 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F11 Gene

Disorders for F11 Gene

MalaCards: The human disease database

(28) MalaCards diseases for F11 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
factor xi deficiency
  • f11 deficiency
hemorrhagic disease
  • hemorrhagic diathesis
factor x deficiency
  • f10 deficiency
hemorrhage, intracerebral
  • hemorrhage, intracerebral, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search F11 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:10027710, ECO:0000269 PubMed:10606881, ECO:0000269 PubMed:11895778, ECO:0000269 PubMed:15026311, ECO:0000269 PubMed:15180874, ECO:0000269 PubMed:1547342, ECO:0000269 PubMed:15953011, ECO:0000269 PubMed:16607084, ECO:0000269 PubMed:18005151, ECO:0000269 PubMed:21457405, ECO:0000269 PubMed:21668437, ECO:0000269 PubMed:21999818, ECO:0000269 PubMed:22016685, ECO:0000269 PubMed:22159456, ECO:0000269 PubMed:22322133, ECO:0000269 PubMed:25158988, ECO:0000269 PubMed:2813350, ECO:0000269 PubMed:7669672, ECO:0000269 PubMed:7888672, ECO:0000269 PubMed:9401068, ECO:0000269 PubMed:9787168}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for F11 Gene

bleeding diathesis,mild,inconstant

Additional Disease Information for F11

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with F11: view

Publications for F11 Gene

  1. Heterozygous factor XI deficiency associated with three novel mutations. (PMID: 10606881) Mitchell M … Alhaq A (British journal of haematology 1999) 3 4 40 72
  2. Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). (PMID: 22159456) Guéguen P … Le Maréchal C (Thrombosis and haemostasis 2012) 3 4 72
  3. Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. (PMID: 18005151) Fard-Esfahani P … Ala F (Haemophilia : the official journal of the World Federation of Hemophilia 2008) 3 4 22
  4. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. (PMID: 11895778) Zivelin A … Seligsohn U (Blood 2002) 3 4 40
  5. Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID: 10027710) Alhaq A … Savidge G (British journal of haematology 1999) 3 4 22

Products for F11 Gene

Sources for F11 Gene