Difference between revisions of "Factor XI"

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#REDIRECT [[Factor XI]]
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| image = PBB_Protein_F11_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1xx9.
| PDB = {{PDB2|1xx9}}, {{PDB2|1xxd}}, {{PDB2|1xxf}}, {{PDB2|1zhm}}, {{PDB2|1zhp}}, {{PDB2|1zhr}}, {{PDB2|1zjd}}, {{PDB2|1zlr}}, {{PDB2|1zmj}}, {{PDB2|1zml}}, {{PDB2|1zmn}}, {{PDB2|1zom}}, {{PDB2|1zpb}}, {{PDB2|1zpc}}, {{PDB2|1zpz}}, {{PDB2|1zrk}}, {{PDB2|1zsj}}, {{PDB2|1zsk}}, {{PDB2|1zsl}}, {{PDB2|1ztj}}, {{PDB2|1ztk}}, {{PDB2|1ztl}}, {{PDB2|2f83}}, {{PDB2|2fda}}
| Name = Coagulation factor XI (plasma thromboplastin antecedent)
| HGNCid = 3529
| Symbol = F11
| AltSymbols =; FXI; MGC141891
| OMIM = 264900
| ECnumber = 
| Homologene = 86654
| MGIid = 99481
| GeneAtlas_image1 = PBB_GE_F11_206610_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003803 |text = coagulation factor IXa activity}} {{GNF_GO|id=GO:0003805 |text = coagulation factor XIa activity}} {{GNF_GO|id=GO:0008201 |text = heparin binding}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2160
    | Hs_Ensembl = ENSG00000088926
    | Hs_RefseqProtein = NP_062505
    | Hs_RefseqmRNA = NM_019559
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 4
    | Hs_GenLoc_start = 187424272
    | Hs_GenLoc_end = 187446928
    | Hs_Uniprot = P03951
    | Mm_EntrezGene = 109821
    | Mm_Ensembl = ENSMUSG00000031645
    | Mm_RefseqmRNA = NM_028066
    | Mm_RefseqProtein = NP_082342
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 8
    | Mm_GenLoc_start = 46739987
    | Mm_GenLoc_end = 46760848
    | Mm_Uniprot = Q9DAT3
'''Factor XI''' or '''plasma thromboplastin antecedent''' is one of the [[enzyme]]s of the [[coagulation|coagulation cascade]]. Like many other coagulation factors, it is a [[serine protease]].
Factor XI (FXI) is produced by the [[liver]] and circulates as a homo-dimer in its inactive form. The plasma half-life of FXI is approximately 52 hours. The zymogen factor is activated into ''factor XIa'' by [[factor XII]]a (FXIIa), [[thrombin]], and it is also [[autocatalytic]], and FXI is a member of the "contact pathway" due to activation by FXIIa (with includes [[high molecular weight kininogen|HMWK]], [[prekallikrein]], [[factor XII]], factor XI and [[factor IX]]).
Factor XIa activates factor IX by selectively cleaving [[arginine|arg]]-[[alanine|ala]] and [[arginine|arg]]-[[valine|val]] [[peptide bond]]s. Factor IXa, in turn, activates [[factor X]].
Inhibitors of factor XIa include [[protein Z-dependent protease inhibitor]] (ZPI, a member of the [[serine protease inhibitor]]/serpin class of proteins), which is independent of [[protein Z]] (its action on factor X, however, is protein Z-dependent, hence its name).
==Protein structure and molecular biology==
Although synthesized as a single polypeptide chain, FXI circulates as a homo-dimer. Every chain has a relative molecular mass of approximately 80000. Typical plasma concentrations of FXI are 5 mg/l, corresponding to a plasma concentration (of FXI dimers) of approximately 30nM.
The FXI gene is 23kb in length, has 15 exons, and is found on chromosome 4q32-35.
==Role in disease==
Deficiency of factor XI causes the rare [[Haemophilia C]]; this mainly occurs in Ashkenazi Jews and is believed to affect approximately 8% of that population, of both sexes. The condition has been described in other populations at around 1% of cases. It is an [[autosomal recessive]] disorder. There is little spontaneous bleeding, but surgical procedures may cause excessive blood loss, and prophylaxis is required.
Low levels of factor XI also occur in many other disease states, including [[Noonan syndrome]].
High levels of factor XI have been implicated in [[thrombosis]], although it is uncertain what determines these levels and how serious the procoagulant state is.
==Further reading==
{{refbegin | 2}}
| citations =
*{{cite journal  | author=Gailani D, Zivelin A, Sinha D, Walsh PN |title=Do platelets synthesize factor XI? |journal=J. Thromb. Haemost. |volume=2 |issue= 10 |pages= 1709-12 |year= 2005 |pmid= 15456479 |doi= 10.1111/j.1538-7836.2004.00935.x }}
*{{cite journal  | author=Dossenbach-Glaninger A, Hopmeier P |title=Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. |journal=Blood Coagul. Fibrinolysis |volume=16 |issue= 4 |pages= 231-8 |year= 2005 |pmid= 15870541 |doi=  }}
*{{cite journal  | author=Seligsohn U |title=Factor XI in haemostasis and thrombosis: past, present and future. |journal=Thromb. Haemost. |volume=98 |issue= 1 |pages= 84-9 |year= 2007 |pmid= 17597996 |doi=  }}
*{{cite journal  | author=Meijers JC, Davie EW, Chung DW |title=Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. |journal=Blood |volume=79 |issue= 6 |pages= 1435-40 |year= 1992 |pmid= 1547342 |doi=  }}
*{{cite journal  | author=Gailani D, Broze GJ |title=Factor XI activation in a revised model of blood coagulation. |journal=Science |volume=253 |issue= 5022 |pages= 909-12 |year= 1991 |pmid= 1652157 |doi=  }}
*{{cite journal  | author=Buetow KH, Shiang R, Yang P, ''et al.'' |title=A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. |journal=Am. J. Hum. Genet. |volume=48 |issue= 5 |pages= 911-25 |year= 1991 |pmid= 1673289 |doi=  }}
*{{cite journal  | author=Bodfish P, Warne D, Watkins C, ''et al.'' |title=Dinucleotide repeat polymorphism in the human coagulation factor XI gene, intron B (F11), detected using the polymerase chain reaction. |journal=Nucleic Acids Res. |volume=19 |issue= 24 |pages= 6979 |year= 1992 |pmid= 1762944 |doi=  }}
*{{cite journal  | author=Clarkson K, Rosenfeld B, Fair J, ''et al.'' |title=Factor XI deficiency acquired by liver transplantation. |journal=Ann. Intern. Med. |volume=115 |issue= 11 |pages= 877-9 |year= 1991 |pmid= 1952475 |doi=  }}
*{{cite journal  | author=McMullen BA, Fujikawa K, Davie EW |title=Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains. |journal=Biochemistry |volume=30 |issue= 8 |pages= 2056-60 |year= 1991 |pmid= 1998667 |doi=  }}
*{{cite journal  | author=Naito K, Fujikawa K |title=Activation of human blood coagulation factor XI independent of factor XII. Factor XI is activated by thrombin and factor XIa in the presence of negatively charged surfaces. |journal=J. Biol. Chem. |volume=266 |issue= 12 |pages= 7353-8 |year= 1991 |pmid= 2019570 |doi=  }}
*{{cite journal  | author=Asakai R, Chung DW, Davie EW, Seligsohn U |title=Factor XI deficiency in Ashkenazi Jews in Israel. |journal=N. Engl. J. Med. |volume=325 |issue= 3 |pages= 153-8 |year= 1991 |pmid= 2052060 |doi=  }}
*{{cite journal  | author=España F, Berrettini M, Griffin JH |title=Purification and characterization of plasma protein C inhibitor. |journal=Thromb. Res. |volume=55 |issue= 3 |pages= 369-84 |year= 1989 |pmid= 2551064 |doi=  }}
*{{cite journal  | author=Asakai R, Chung DW, Ratnoff OD, Davie EW |title=Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 20 |pages= 7667-71 |year= 1989 |pmid= 2813350 |doi=  }}
*{{cite journal  | author=Asakai R, Davie EW, Chung DW |title=Organization of the gene for human factor XI. |journal=Biochemistry |volume=26 |issue= 23 |pages= 7221-8 |year= 1988 |pmid= 2827746 |doi=  }}
*{{cite journal  | author=Fujikawa K, Chung DW, Hendrickson LE, Davie EW |title=Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein. |journal=Biochemistry |volume=25 |issue= 9 |pages= 2417-24 |year= 1986 |pmid= 3636155 |doi=  }}
*{{cite journal  | author=Warn-Cramer BJ, Bajaj SP |title=Stoichiometry of binding of high molecular weight kininogen to factor XI/XIa. |journal=Biochem. Biophys. Res. Commun. |volume=133 |issue= 2 |pages= 417-22 |year= 1986 |pmid= 3936495 |doi=  }}
*{{cite journal  | author=Bouma BN, Vlooswijk RA, Griffin JH |title=Immunologic studies of human coagulation factor XI and its complex with high molecular weight kininogen. |journal=Blood |volume=62 |issue= 5 |pages= 1123-31 |year= 1983 |pmid= 6626744 |doi=  }}
*{{cite journal  | author=Tuszynski GP, Bevacqua SJ, Schmaier AH, ''et al.'' |title=Factor XI antigen and activity in human platelets. |journal=Blood |volume=59 |issue= 6 |pages= 1148-56 |year= 1982 |pmid= 7044446 |doi=  }}
*{{cite journal  | author=Imanaka Y, Lal K, Nishimura T, ''et al.'' |title=Identification of two novel mutations in non-Jewish factor XI deficiency. |journal=Br. J. Haematol. |volume=90 |issue= 4 |pages= 916-20 |year= 1995 |pmid= 7669672 |doi=  }}
*{{cite journal  | author=Pugh RE, McVey JH, Tuddenham EG, Hancock JF |title=Six point mutations that cause factor XI deficiency. |journal=Blood |volume=85 |issue= 6 |pages= 1509-16 |year= 1995 |pmid= 7888672 |doi=  }}
{{Serine endopeptidases}}
[[Category:EC 3.4.21]]
[[Category:Coagulation system]]
[[Category:Genes associated with genetic disorders]]
[[de:Plasma thromboplastin antecedent]]

Revision as of 15:17, 5 February 2008

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