Coagulation factor XII

NameCoagulation factor XII
Synonyms
  • 3.4.21.38
  • HAF
  • Hageman factor
Gene NameF12
OrganismHuman
Amino acid sequence
>lcl|BSEQ0017507|Coagulation factor XII
MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHK
CTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCL
CPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRT
NPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQP
WASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQ
AAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCG
QRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAP
EDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSP
YVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGS
SILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYT
DVAYYLAWIREHTVS
Number of residuesNone
Molecular Weight67791.53
Theoretical pINone
GO Classification
Functions
  • serine-type endopeptidase activity
  • misfolded protein binding
  • serine-type aminopeptidase activity
Processes
  • blood coagulation
  • zymogen activation
  • positive regulation of fibrinolysis
  • positive regulation of plasminogen activation
  • protein autoprocessing
  • Factor XII activation
  • protein processing
  • innate immune response
  • plasma kallikrein-kinin cascade
  • blood coagulation, intrinsic pathway
  • response to misfolded protein
  • fibrinolysis
  • positive regulation of blood coagulation
Components
  • extracellular region
  • plasma membrane
  • extracellular space
  • extracellular exosome
General FunctionSerine-type endopeptidase activity
Specific FunctionFactor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa.
Transmembrane Regions
GenBank Protein ID
UniProtKB IDP00748
UniProtKB Entry Name
Cellular LocationSecreted
Gene sequence
>lcl|BSEQ0017508|Coagulation factor XII (F12)
ATGAGGGCTCTGCTGCTCCTGGGGTTCCTGCTGGTGAGCTTGGAGTCAACACTTTCGATT
CCACCTTGGGAAGCCCCCAAGGAGCATAAGTACAAAGCTGAAGAGCACACAGTCGTTCTC
ACTGTCACCGGGGAGCCCTGCCACTTCCCCTTCCAGTACCACCGGCAGCTGTACCACAAA
TGTACCCACAAGGGCCGGCCAGGCCCTCAGCCCTGGTGTGCTACCACCCCCAACTTTGAT
CAGGACCAGCGATGGGGATACTGTTTGGAGCCCAAGAAAGTGAAAGACCACTGCAGCAAA
CACAGCCCCTGCCAGAAAGGAGGGACCTGTGTGAACATGCCAAGCGGCCCCCACTGTCTC
TGTCCACAACACCTCACTGGAAACCACTGCCAGAAAGAGAAGTGCTTTGAGCCTCAGCTT
CTCCGGTTTTTCCACAAGAATGAGATATGGTATAGAACTGAGCAAGCAGCTGTGGCCAGA
TGCCAGTGCAAGGGTCCTGATGCCCACTGCCAGCGGCTGGCCAGCCAGGCCTGCCGCACC
AACCCGTGCCTCCATGGGGGTCGCTGCCTAGAGGTGGAGGGCCACCGCCTGTGCCACTGC
CCGGTGGGCTACACCGGAGCCTTCTGCGACGTGGACACCAAGGCAAGCTGCTATGATGGC
CGCGGGCTCAGCTACCGCGGCCTGGCCAGGACCACGCTCTCGGGTGCGCCCTGTCAGCCG
TGGGCCTCGGAGGCCACCTACCGGAACGTGACTGCCGAGCAAGCGCGGAACTGGGGACTG
GGCGGCCACGCCTTCTGCCGGAACCCGGACAACGACATCCGCCCGTGGTGCTTCGTGCTG
AACCGCGACCGGCTGAGCTGGGAGTACTGCGACCTGGCACAGTGCCAGACCCCAACCCAG
GCGGCGCCTCCGACCCCGGTGTCCCCTAGGCTTCATGTCCCACTCATGCCCGCGCAGCCG
GCACCGCCGAAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGCC
TTGCCGGCGAAGCGGGAGCAGCCGCCTTCCCTGACCAGGAACGGCCCACTGAGCTGCGGG
CAGCGGCTCCGCAAGAGTCTGTCTTCGATGACCCGCGTCGTTGGCGGGCTGGTGGCGCTA
CGCGGGGCGCACCCCTACATCGCCGCGCTGTACTGGGGCCACAGTTTCTGCGCCGGCAGC
CTCATCGCCCCCTGCTGGGTGCTGACGGCCGCTCACTGCCTGCAGGACCGGCCCGCACCC
GAGGATCTGACGGTGGTGCTCGGCCAGGAACGCCGTAACCACAGCTGTGAGCCGTGCCAG
ACGTTGGCCGTGCGCTCCTACCGCTTGCACGAGGCCTTCTCGCCCGTCAGCTACCAGCAC
GACCTGGCTCTGTTGCGCCTTCAGGAGGATGCGGACGGCAGCTGCGCGCTCCTGTCGCCT
TACGTTCAGCCGGTGTGCCTGCCAAGCGGCGCCGCGCGACCCTCCGAGACCACGCTCTGC
CAGGTGGCCGGCTGGGGCCACCAGTTCGAGGGGGCGGAGGAATATGCCAGCTTCCTGCAG
GAGGCGCAGGTACCGTTCCTCTCCCTGGAGCGCTGCTCAGCCCCGGACGTGCACGGATCC
TCCATCCTCCCCGGCATGCTCTGCGCAGGGTTCCTCGAGGGCGGCACCGATGCGTGCCAG
GGTGATTCCGGAGGCCCGCTGGTGTGTGAGGACCAAGCTGCAGAGCGCCGGCTCACCCTG
CAAGGCATCATCAGCTGGGGATCGGGCTGTGGTGACCGCAACAAGCCAGGCGTCTACACC
GATGTGGCCTACTACCTGGCCTGGATCCGGGAGCACACCGTTTCCTGA
GenBank Gene ID
GeneCard IDNone
GenAtlas ID
HGNC ID
Chromosome Location5
LocusNone
References
  1. Cool DE, MacGillivray RT: Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region. J Biol Chem. 1987 Oct 5;262(28):13662-73. [2888762 ]
  2. Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [15372022 ]
  3. Tripodi M, Citarella F, Guida S, Galeffi P, Fantoni A, Cortese R: cDNA sequence coding for human coagulation factor XII (Hageman). Nucleic Acids Res. 1986 Apr 11;14(7):3146. [3754331 ]
  4. Cool DE, Edgell CJ, Louie GV, Zoller MJ, Brayer GD, MacGillivray RT: Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa. J Biol Chem. 1985 Nov 5;260(25):13666-76. [3877053 ]
  5. Que BG, Davie EW: Characterization of a cDNA coding for human factor XII (Hageman factor). Biochemistry. 1986 Apr 8;25(7):1525-8. [3011063 ]
  6. McMullen BA, Fujikawa K: Amino acid sequence of the heavy chain of human alpha-factor XIIa (activated Hageman factor). J Biol Chem. 1985 May 10;260(9):5328-41. [3886654 ]
  7. Fujikawa K, McMullen BA: Amino acid sequence of human beta-factor XIIa. J Biol Chem. 1983 Sep 25;258(18):10924-33. [6604055 ]
  8. Schloesser M, Hofferbert S, Bartz U, Lutze G, Lammle B, Engel W: The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. Hum Mol Genet. 1995 Jul;4(7):1235-7. [8528215 ]
  9. Harris RJ, Ling VT, Spellman MW: O-linked fucose is present in the first epidermal growth factor domain of factor XII but not protein C. J Biol Chem. 1992 Mar 15;267(8):5102-7. [1544894 ]
  10. Bunkenborg J, Pilch BJ, Podtelejnikov AV, Wisniewski JR: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. Proteomics. 2004 Feb;4(2):454-65. [14760718 ]
  11. 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. [16335952 ]
  12. Bernardi F, Marchetti G, Patracchini P, del Senno L, Tripodi M, Fantoni A, Bartolai S, Vannini F, Felloni L, Rossi L, et al.: Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme. Blood. 1987 May;69(5):1421-4. [2882793 ]
  13. MacQuarrie JL, Stafford AR, Yau JW, Leslie BA, Vu TT, Fredenburgh JC, Weitz JI: Histidine-rich glycoprotein binds factor XIIa with high affinity and inhibits contact-initiated coagulation. Blood. 2011 Apr 14;117(15):4134-41. doi: 10.1182/blood-2010-07-290551. Epub 2011 Feb 8. [21304106 ]
  14. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [24275569 ]
  15. Beringer DX, Kroon-Batenburg LM: The structure of the FnI-EGF-like tandem domain of coagulation factor XII solved using SIRAS. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2013 Feb 1;69(Pt 2):94-102. doi: 10.1107/S1744309113000286. Epub 2013 Jan 26. [23385745 ]
  16. Miyata T, Kawabata S, Iwanaga S, Takahashi I, Alving B, Saito H: Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution. Proc Natl Acad Sci U S A. 1989 Nov;86(21):8319-22. [2510163 ]
  17. Hovinga JK, Schaller J, Stricker H, Wuillemin WA, Furlan M, Lammle B: Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site. Blood. 1994 Aug 15;84(4):1173-81. [8049433 ]
  18. Schloesser M, Zeerleder S, Lutze G, Halbmayer WM, Hofferbert S, Hinney B, Koestering H, Lammle B, Pindur G, Thies K, Kohler M, Engel W: Mutations in the human factor XII gene. Blood. 1997 Nov 15;90(10):3967-77. [9354665 ]
  19. Kondo S, Tokunaga F, Kawano S, Oono Y, Kumagai S, Koide T: Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. Blood. 1999 Jun 15;93(12):4300-8. [10361128 ]
  20. Kanaji T, Kanaji S, Osaki K, Kuroiwa M, Sakaguchi M, Mihara K, Niho Y, Okamura T: Identification and characterization of two novel mutations (Q421 K and R123P) in congenital factor XII deficiency. Thromb Haemost. 2001 Dec;86(6):1409-15. [11776307 ]
  21. Ishii K, Oguchi S, Moriki T, Yatabe Y, Takeshita E, Murata M, Ikeda Y, Watanabe K: Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. Blood Coagul Fibrinolysis. 2004 Jul;15(5):367-73. [15205584 ]
  22. Oguchi S, Ishii K, Moriki T, Takeshita E, Murata M, Ikeda Y, Watanabe K: Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. Thromb Res. 2005;115(3):191-7. [15617741 ]
  23. Dewald G, Bork K: Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9. [16638441 ]
  24. Cichon S, Martin L, Hennies HC, Muller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renne T, Drouet C, Bork K, Nothen MM: Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 2006 Dec;79(6):1098-104. Epub 2006 Oct 18. [17186468 ]

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