Coagulation factor XI

Details

Name
Coagulation factor XI
Synonyms
  • 3.4.21.27
  • FXI
  • Plasma thromboplastin antecedent
  • PTA
Gene Name
F11
Organism
Humans
Amino acid sequence
>lcl|BSEQ0002033|Coagulation factor XI
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFT
FTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDM
KGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRNICLLKHTQTGTPTRITK
LDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTD
FLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKIL
HGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSI
IGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYD
IALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLV
TNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCA
QRERPGVYTNVVEYVDWILEKTQAV
Number of residues
625
Molecular Weight
70108.56
Theoretical pI
8.14
GO Classification
Functions
heparin binding / serine-type endopeptidase activity
Processes
blood coagulation / blood coagulation, intrinsic pathway / plasminogen activation / positive regulation of fibrinolysis
Components
extracellular exosome / extracellular region / extracellular space / membrane / plasma membrane
General Function
Serine-type endopeptidase activity
Specific Function
Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Secreted
Gene sequence
>lcl|BSEQ0010715|Coagulation factor XI (F11)
ATGATTTTCTTATATCAAGTGGTACATTTCATTTTATTTACTTCAGTTTCTGGTGAATGT
GTGACTCAGTTGTTGAAGGACACCTGCTTTGAAGGAGGGGACATTACTACGGTCTTCACA
CCAAGCGCCAAGTACTGCCAGGTAGTCTGCACTTACCACCCAAGATGTTTACTCTTCACT
TTCACGGCGGAATCACCATCTGAGGATCCCACCCGATGGTTTACTTGTGTCCTGAAAGAC
AGTGTTACAGAAACACTGCCAAGAGTGAATAGGACAGCAGCGATTTCTGGGTATTCTTTC
AAGCAATGCTCACACCAAATAAGCGCTTGCAACAAAGACATTTATGTGGACCTAGACATG
AAGGGCATAAACTATAACAGCTCAGTTGCCAAGAGTGCTCAAGAATGCCAAGAAAGATGC
ACGGATGACGTCCACTGCCACTTTTTCACGTACGCCACAAGGCAGTTTCCCAGCCTGGAG
CATCGTAACATTTGTCTACTGAAGCACACCCAAACAGGGACACCAACCAGAATAACGAAG
CTCGATAAAGTGGTGTCTGGATTTTCACTGAAATCCTGTGCACTTTCTAATCTGGCTTGT
ATTAGGGACATTTTCCCTAATACGGTGTTTGCAGACAGCAACATCGACAGTGTCATGGCT
CCCGATGCTTTTGTCTGTGGCCGAATCTGCACTCATCATCCCGGTTGCTTGTTTTTTACC
TTCTTTTCCCAGGAATGGCCCAAAGAATCTCAAAGAAATCTTTGTCTCCTTAAAACATCT
GAGAGTGGATTGCCCAGTACACGCATTAAAAAGAGCAAAGCTCTTTCTGGTTTCAGTCTA
CAAAGCTGCAGGCACAGCATCCCAGTGTTCTGCCATTCTTCATTTTACCATGACACTGAT
TTCTTGGGAGAAGAACTGGATATTGTTGCTGCAAAAAGTCACGAGGCCTGCCAGAAACTG
TGCACCAATGCCGTCCGCTGCCAGTTTTTTACCTATACCCCAGCCCAAGCATCCTGCAAC
GAAGGGAAGGGCAAGTGTTACTTAAAGCTTTCTTCAAACGGATCTCCAACTAAAATACTT
CACGGGAGAGGAGGCATCTCTGGATACACATTAAGGTTGTGTAAAATGGATAATGAGTGT
ACCACCAAAATCAAGCCCAGGATCGTTGGAGGAACTGCGTCTGTTCGTGGTGAGTGGCCG
TGGCAGGTGACCCTGCACACAACCTCACCCACTCAGAGACACCTGTGTGGAGGCTCCATC
ATTGGAAACCAGTGGATATTAACAGCCGCTCACTGTTTCTATGGGGTAGAGTCACCTAAG
ATTTTGCGTGTCTACAGTGGCATTTTAAATCAATCTGAAATAAAAGAGGACACATCTTTC
TTTGGGGTTCAAGAAATAATAATCCATGATCAGTATAAAATGGCAGAAAGCGGGTATGAT
ATTGCCTTGTTGAAACTGGAAACCACAGTGAATTACACAGATTCTCAACGACCCATATGC
CTGCCTTCCAAAGGAGATAGAAATGTAATATACACTGATTGCTGGGTGACTGGATGGGGG
TACAGAAAACTAAGAGACAAAATACAAAATACTCTCCAGAAAGCCAAGATACCCTTAGTG
ACCAACGAAGAGTGCCAGAAGAGATACAGAGGACATAAAATAACCCATAAGATGATCTGT
GCCGGCTACAGGGAAGGAGGGAAGGACGCTTGCAAGGGAGATTCGGGAGGCCCTCTGTCC
TGCAAACACAATGAGGTCTGGCATCTGGTAGGCATCACGAGCTGGGGCGAAGGCTGTGCT
CAAAGGGAGCGGCCAGGTGTTTACACCAACGTGGTCGAGTACGTGGACTGGATTCTGGAG
AAAACTCAAGCAGTGTGA
Chromosome Location
4
Locus
4q35
External Identifiers
ResourceLink
UniProtKB IDP03951
UniProtKB Entry NameFA11_HUMAN
GenBank Protein ID182833
GenBank Gene IDM13142
GenAtlas IDF11
HGNC IDHGNC:3529
General References
  1. Fujikawa K, Chung DW, Hendrickson LE, Davie EW: Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein. Biochemistry. 1986 May 6;25(9):2417-24. [PubMed:3636155]
  2. Asakai R, Davie EW, Chung DW: Organization of the gene for human factor XI. Biochemistry. 1987 Nov 17;26(23):7221-8. [PubMed:2827746]
  3. Hsu TC, Shore SK, Seshsmma T, Bagasra O, Walsh PN: Molecular cloning of platelet factor XI, an alternative splicing product of the plasma factor XI gene. J Biol Chem. 1998 May 29;273(22):13787-93. [PubMed:9593722]
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  6. McMullen BA, Fujikawa K, Davie EW: Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains. Biochemistry. 1991 Feb 26;30(8):2056-60. [PubMed:1998667]
  7. Meijers JC, Kanters DH, Vlooswijk RA, van Erp HE, Hessing M, Bouma BN: Inactivation of human plasma kallikrein and factor XIa by protein C inhibitor. Biochemistry. 1988 Jun 14;27(12):4231-7. [PubMed:2844223]
  8. Badellino KO, Walsh PN: Localization of a heparin binding site in the catalytic domain of factor XIa. Biochemistry. 2001 Jun 26;40(25):7569-80. [PubMed:11412111]
  9. Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [PubMed:16335952]
  10. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [PubMed:19159218]
  11. Faid V, Denguir N, Chapuis V, Bihoreau N, Chevreux G: Site-specific N-glycosylation analysis of human factor XI: Identification of a noncanonical NXC glycosite. Proteomics. 2014 Nov;14(21-22):2460-70. doi: 10.1002/pmic.201400038. [PubMed:25092234]
  12. Buchanan MS, Carroll AR, Wessling D, Jobling M, Avery VM, Davis RA, Feng Y, Xue Y, Oster L, Fex T, Deinum J, Hooper JN, Quinn RJ: Clavatadine A, a natural product with selective recognition and irreversible inhibition of factor XIa. J Med Chem. 2008 Jun 26;51(12):3583-7. doi: 10.1021/jm800314b. [PubMed:18510371]
  13. Asakai R, Chung DW, Ratnoff OD, Davie EW: Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci U S A. 1989 Oct;86(20):7667-71. [PubMed:2813350]
  14. Meijers JC, Davie EW, Chung DW: Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. Blood. 1992 Mar 15;79(6):1435-40. [PubMed:1547342]
  15. Pugh RE, McVey JH, Tuddenham EG, Hancock JF: Six point mutations that cause factor XI deficiency. Blood. 1995 Mar 15;85(6):1509-16. [PubMed:7888672]
  16. Imanaka Y, Lal K, Nishimura T, Bolton-Maggs PH, Tuddenham EG, McVey JH: Identification of two novel mutations in non-Jewish factor XI deficiency. Br J Haematol. 1995 Aug;90(4):916-20. [PubMed:7669672]
  17. Wistinghausen B, Reischer A, Oddoux C, Ostrer H, Nardi M, Karpatkin M: Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. Br J Haematol. 1997 Dec;99(3):575-7. [PubMed:9401068]
  18. Martincic D, Zimmerman SA, Ware RE, Sun MF, Whitlock JA, Gailani D: Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting. Blood. 1998 Nov 1;92(9):3309-17. [PubMed:9787168]
  19. Alhaq A, Mitchell M, Sethi M, Rahman S, Flynn G, Boulton P, Caeno G, Smith M, Savidge G: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. Br J Haematol. 1999 Jan;104(1):44-9. [PubMed:10027710]
  20. Mitchell M, Cutler J, Thompson S, Moore G, Jenkins Ap Rees E, Smith M, Savidge G, Alhaq A: Heterozygous factor XI deficiency associated with three novel mutations. Br J Haematol. 1999 Dec;107(4):763-5. [PubMed:10606881]
  21. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed:10391209]
  22. Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, Seligsohn U: Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood. 2002 Apr 1;99(7):2448-54. [PubMed:11895778]
  23. Kravtsov DV, Wu W, Meijers JC, Sun MF, Blinder MA, Dang TP, Wang H, Gailani D: Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Blood. 2004 Jul 1;104(1):128-34. Epub 2004 Mar 16. [PubMed:15026311]
  24. Dai L, Mitchell M, Carson P, Creagh D, Cutler J, Savidge G, Alhaq A: Severe factor XI deficiency caused by compound heterozygosity. Br J Haematol. 2004 Jun;125(6):817-8. [PubMed:15180874]
  25. Hill M, McLeod F, Franks H, Gordon B, Dolan G: Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion. Br J Haematol. 2005 Jun;129(6):825-9. [PubMed:15953011]
  26. Quelin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, de Mazancourt P: Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. Blood Coagul Fibrinolysis. 2006 Jan;17(1):69-73. [PubMed:16607084]
  27. Fard-Esfahani P, Lari GR, Ravanbod S, Mirkhani F, Allahyari M, Rassoulzadegan M, Ala F: Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. Haemophilia. 2008 Jan;14(1):91-5. Epub 2007 Nov 13. [PubMed:18005151]
  28. Kim J, Song J, Lyu CJ, Kim YR, Oh SH, Choi YC, Yoo JH, Choi JR, Kim H, Lee KA: Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. Clin Genet. 2012 Aug;82(2):180-6. doi: 10.1111/j.1399-0004.2011.01732.x. Epub 2011 Jun 30. [PubMed:21668437]
  29. Dai L, Rangarajan S, Mitchell M: Three dominant-negative mutations in factor XI-deficient patients. Haemophilia. 2011 Sep;17(5):e919-22. doi: 10.1111/j.1365-2516.2011.02519.x. Epub 2011 Apr 3. [PubMed:21457405]
  30. Lee JH, Cho HS, Hyun MS, Kim HY, Kim HJ: A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency. Korean J Lab Med. 2011 Oct;31(4):290-3. doi: 10.3343/kjlm.2011.31.4.290. Epub 2011 Oct 3. [PubMed:22016685]
  31. Tirefort Y, Uhr MR, Neerman-Arbez M, de Moerloose P: Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency. Blood Coagul Fibrinolysis. 2012 Apr;23(3):251-2. doi: 10.1097/MBC.0b013e32834ea02a. [PubMed:22322133]
  32. Girolami A, Scarparo P, Bonamigo E, Santarossa L, Cristiani A, Moro S, Lombardi AM: A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy. Eur J Haematol. 2012 Mar;88(3):229-36. doi: 10.1111/j.1600-0609.2011.01723.x. Epub 2011 Nov 17. [PubMed:21999818]
  33. Gueguen P, Chauvin A, Quemener-Redon S, Pan-Petesch B, Ferec C, Abgrall JF, Le Marechal C: Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). Thromb Haemost. 2012 Jan;107(1):44-50. doi: 10.1160/TH11-06-0415. Epub 2011 Dec 8. [PubMed:22159456]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00100Coagulation Factor IX (Recombinant)approved, investigationalyesligandDetails
DB070223-Hydroxypropyl 3-[(7-carbamimidoyl-1-naphthyl)carbamoyl]benzenesulfonateexperimentalunknownDetails
DB07023(1R)-2-[(Diaminomethylene)amino]-1-{4-[(4R)-4-(hydroxymethyl)-1,3,2-dioxaborolan-2-yl]phenyl}ethyl nicotinateexperimentalunknownDetails
DB07071(R)-1-(4-(4-(Hydroxymethyl)-1,3,2-dioxaborolan-2-YL)phenethyl)guanidineexperimentalunknownDetails
DB070746-CARBAMIMIDOYL-4-(3-HYDROXY-2-METHYL-BENZOYLAMINO)-NAPHTHALENE-2-CARBOXYLIC ACID METHYL ESTERexperimentalunknownDetails
DB07077(R)-1-(4-(4-(Hydroxymethyl)-1,3,2-dioxaborolan-2-YL)phenyl)guanidineexperimentalunknownDetails
DB07212N-(7-CARBAMIMIDOYL-NAPHTHALEN-1-YL)-3-HYDROXY-2-METHYL-BENZAMIDEexperimentalunknownDetails
DB072994-METHYL-PENTANOIC ACID {1-[4-GUANIDINO-1-(THIAZOLE-2-CARBONYL)-BUTYLCARBAMOYL]-2-METHYL-PROPYL}-AMIDEexperimentalunknownDetails
DB07887(R)-1-(4-(4-(hydroxymethyl)-1,3,2-dioxaborolan-2-yl)benzyl)guanidineexperimentalunknownDetails
DB09228Conestat alfaapproved, investigationalyesinhibitorDetails
DB06404Human C1-esterase inhibitorapprovedyesinhibitorDetails
DB13152Coagulation Factor IX HumanapprovedyesligandDetails
DB11571Human thrombinapprovedyesactivatorDetails
DB11300Thrombinapproved, investigationalyesactivatorDetails
DB14533Zinc chlorideapproved, investigationalunknownactivatorDetails
DB14548Zinc sulfate, unspecified formapproved, experimentalunknownactivatorDetails