Format

Send to:

Choose Destination

F11 coagulation factor XI [ Homo sapiens (human) ]

Gene ID: 2160, updated on 14-Jun-2018
Official Symbol
F11provided by HGNC
Official Full Name
coagulation factor XIprovided by HGNC
Primary source
HGNC:HGNC:3529
See related
Ensembl:ENSG00000088926 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; 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
See F11 in Genome Data Viewer
Location:
4q35.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (186265964..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

  • 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 Jun 15 11:32:44 2016

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 IDA
Inferred from Direct Assay
more info
PubMed 
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 HDA 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
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

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 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, OTTHUMP00000197033, ENST00000403665.6, OTTHUMT00000317519
    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_001354804.1NP_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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 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.
Support Center