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Volumn 94, Issue 5, 2005, Pages 942-950

Protein C Sapporo (protein C Glu 25 → Lys): A heterozygous missense mutation in the Gla domain provides new insight into the interaction between protein C and endothelial protein C receptor

Author keywords

EPCR (endothelial protein C receptor); Gla domain ( carboxyglutamic acid domain); Protein C deficiency; Protein C Sapporo; Type IIb deficiency

Indexed keywords

4 CARBOXYGLUTAMIC ACID; ALANINE; AMINO ACID; ANTIGEN; ENDOTHELIAL PROTEIN C RECEPTOR; GLUTAMINE; GLYCINE; LYSINE; MEMBRANE PHOSPHOLIPID; NUCLEOTIDE; PROTEIN C; PROTEIN C SAPPORO; RECEPTOR PROTEIN; UNCLASSIFIED DRUG; WATER;

EID: 27844434709     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-05-0326     Document Type: Article
Times cited : (7)

References (51)
  • 1
    • 0028832910 scopus 로고
    • The protein C anticoagulant system: Inherited defects as basis for venous thrombosis
    • Dahlback B. The protein C anticoagulant system: inherited defects as basis for venous thrombosis. Thromb Res 1995; 77: 1-43.
    • (1995) Thromb. Res. , vol.77 , pp. 1-43
    • Dahlback, B.1
  • 2
    • 0034059213 scopus 로고    scopus 로고
    • The endothelial cell protein C receptor
    • Esmon CT. The endothelial cell protein C receptor. Thromb Haemost 2000; 83: 639-43.
    • (2000) Thromb. Haemost. , vol.83 , pp. 639-643
    • Esmon, C.T.1
  • 5
    • 0026687609 scopus 로고
    • Role of individual γ-carboxyglutainic acid residues of activated human protein C in defining its in vitro anticoagulant activity
    • Zhang L, Jhingan A, Castellino FJ. Role of individual γ-carboxyglutainic acid residues of activated human protein C in defining its in vitro anticoagulant activity. Blood 1992; 80: 942-52.
    • (1992) Blood , vol.80 , pp. 942-952
    • Zhang, L.1    Jhingan, A.2    Castellino, F.J.3
  • 6
    • 0028897251 scopus 로고
    • Binding of calcium to individual γ-carboxyglutamic acid residues of human protein C
    • Colpitts TL, Prorok M, Castellino FJ. Binding of calcium to individual γ-carboxyglutamic acid residues of human protein C. Biochemistry 1995; 34: 2424-30.
    • (1995) Biochemistry , vol.34 , pp. 2424-2430
    • Colpitts, T.L.1    Prorok, M.2    Castellino, F.J.3
  • 7
    • 0019789514 scopus 로고
    • Deficiency of protein C in congenital thrombotic disease
    • Griffin JH, Evatt B, Zimmerman TS et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68: 1370-3.
    • (1981) J. Clin. Invest. , vol.68 , pp. 1370-1373
    • Griffin, J.H.1    Evatt, B.2    Zimmerman, T.S.3
  • 8
    • 0021086761 scopus 로고
    • Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura falminans in a newborn infant
    • Branson HE, Katz J, Marble R et al. Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura falminans in a newborn infant. Lancet 1983;2:1165-8.
    • (1983) Lancet , vol.2 , pp. 1165-1168
    • Branson, H.E.1    Katz, J.2    Marble, R.3
  • 9
    • 0025279023 scopus 로고
    • Hereditary dysfunctional protein C molecules (type II): Assay characterization and proposed classification
    • Marlar RA, Adcock DM, Madden RM. Hereditary dysfunctional protein C molecules (type II): assay characterization and proposed classification. Thromb Haemost 1990; 63: 375-9.
    • (1990) Thromb. Haemost. , vol.63 , pp. 375-379
    • Marlar, R.A.1    Adcock, D.M.2    Madden, R.M.3
  • 10
    • 0028323166 scopus 로고
    • Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: Patterns revealed by three-dimensional molecular modelling of mutations of the protease domain
    • Greengard JS, Fisher CL, Villoutreix B et al. Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: patterns revealed by three-dimensional molecular modelling of mutations of the protease domain. Proteins 1994; 18: 367-80.
    • (1994) Proteins , vol.18 , pp. 367-380
    • Greengard, J.S.1    Fisher, C.L.2    Villoutreix, B.3
  • 11
    • 0029043736 scopus 로고
    • Protein C deficiency: A database of mutations, 1995 update
    • On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH
    • Reitsma. PH, Bernardi F, Doig RG et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1995; 73: 876-89.
    • (1995) Thromb. Haemost. , vol.73 , pp. 876-889
    • Reitsma, P.H.1    Bernardi, F.2    Doig, R.G.3
  • 12
    • 0028276845 scopus 로고
    • Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity
    • Gaussem P, Gandrille S, Duchemin J et al. Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity. Thromb Haemost 1994; 71: 748-54.
    • (1994) Thromb. Haemost. , vol.71 , pp. 748-754
    • Gaussem, P.1    Gandrille, S.2    Duchemin, J.3
  • 13
    • 0009284026 scopus 로고    scopus 로고
    • Type II protein C deficiency: Identification and molecular modelling of two natural mutants with low anticoagulant and normal amidolytic activity
    • Faioni EM, Hermida J, Rovida E et al. Type II protein C deficiency: identification and molecular modelling of two natural mutants with low anticoagulant and normal amidolytic activity. Br J Haematol 2000; 108: 265-71.
    • (2000) Br. J. Haematol. , vol.108 , pp. 265-271
    • Faioni, E.M.1    Hermida, J.2    Rovida, E.3
  • 14
    • 0033983871 scopus 로고    scopus 로고
    • Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S
    • Alhenc-Gelas M, Gandrille S, Aubry ML et al. Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S. Thromb Haemost 2000; 83: 86-92.
    • (2000) Thromb. Haemost. , vol.83 , pp. 86-92
    • Alhenc-Gelas, M.1    Gandrille, S.2    Aubry, M.L.3
  • 15
    • 0022980648 scopus 로고
    • Conformation-specific monoclonal antibodies to the calcium-induced structure of protein C
    • Wakabayashi K, Sakata Y, Aoki N. Conformation-specific monoclonal antibodies to the calcium-induced structure of protein C. J Biol Chem 1986; 261: 11097-105.
    • (1986) J. Biol. Chem. , vol.261 , pp. 11097-11105
    • Wakabayashi, K.1    Sakata, Y.2    Aoki, N.3
  • 17
    • 0037217550 scopus 로고    scopus 로고
    • Identification of simultaneous mutation of fibrinogen α chain and protein C genes in a Japanese kindred
    • Watanabe K, Shibuya A, Ishii E et al. Identification of simultaneous mutation of fibrinogen α chain and protein C genes in a Japanese kindred. Br J Haematol 2003;120:101-8.
    • (2003) Br. J. Haematol. , vol.120 , pp. 101-108
    • Watanabe, K.1    Shibuya, A.2    Ishii, E.3
  • 18
    • 0028054971 scopus 로고
    • Three missense mutations in the protein C heavy chain causing type I and type II protein C deficiency
    • Miyata T, Zheng YZ, Sakata T et al. Three missense mutations in the protein C heavy chain causing type I and type II protein C deficiency. Thromb Haemost 1994;71:32-7.
    • (1994) Thromb. Haemost. , vol.71 , pp. 32-37
    • Miyata, T.1    Zheng, Y.Z.2    Sakata, T.3
  • 19
    • 0027364901 scopus 로고
    • A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26
    • Ido M, Ohiwa M, Hayashi T et al. A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26. Thromb Haemost 1993; 70:636-41.
    • (1993) Thromb. Haemost. , vol.70 , pp. 636-641
    • Ido, M.1    Ohiwa, M.2    Hayashi, T.3
  • 20
    • 0036813534 scopus 로고    scopus 로고
    • Thromboprophylaxis with low molecular weight heparin in thrombophilia-complicated pregnancy
    • Ebina Y, Yamada H, Kato EH et al. Thromboprophylaxis with low molecular weight heparin in thrombophilia-complicated pregnancy. J Obstet Gynaecol Res 2002; 28: 251-7.
    • (2002) J. Obstet. Gynaecol. Res. , vol.28 , pp. 251-257
    • Ebina, Y.1    Yamada, H.2    Kato, E.H.3
  • 21
    • 0033983988 scopus 로고    scopus 로고
    • High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism
    • Kraaijenhagen RA, in'tAnker PS, Koopman MM et al. High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost 2000; 83: 5-9.
    • (2000) Thromb. Haemost. , vol.83 , pp. 5-9
    • Kraaijenhagen, R.A.1    in'tAnker, P.S.2    Koopman, M.M.3
  • 22
    • 0034660655 scopus 로고    scopus 로고
    • High levels of factor IX increase the risk of venous thrombosis
    • van Hylckama Vlieg A, van der Linden IK, Bertina RM et al. High levels of factor IX increase the risk of venous thrombosis. Blood 2000; 95: 3678-82.
    • (2000) Blood , vol.95 , pp. 3678-3682
    • van Hylckama Vlieg, A.1    van der Linden, I.K.2    Bertina, R.M.3
  • 23
    • 0034099043 scopus 로고    scopus 로고
    • High levels of coagulation factor XI as a risk factor for venous thrombosis
    • Meijers JC, Tekelenburg WL, Bouma BN et al. High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med 2000; 342: 696-701.
    • (2000) N. Engl. J. Med. , vol.342 , pp. 696-701
    • Meijers, J.C.1    Tekelenburg, W.L.2    Bouma, B.N.3
  • 24
    • 15744377185 scopus 로고    scopus 로고
    • Deep vein thrombosis
    • Kyrle PA, Eichinger S. Deep vein thrombosis. Lancet 2005;365:1163-74.
    • (2005) Lancet , vol.365 , pp. 1163-1174
    • Kyrle, P.A.1    Eichinger, S.2
  • 25
    • 0028314865 scopus 로고
    • Mutation in blood coagulation factor V associated with resistance to activated protein C
    • Bertina RM, Koeleman BP, Koster T et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
    • (1994) Nature , vol.369 , pp. 64-67
    • Bertina, R.M.1    Koeleman, B.P.2    Koster, T.3
  • 26
    • 0029850530 scopus 로고    scopus 로고
    • A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
    • Poort SR, Rosendaal FR, Reitsma PH et al. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-703.
    • (1996) Blood , vol.88 , pp. 3698-3703
    • Poort, S.R.1    Rosendaal, F.R.2    Reitsma, P.H.3
  • 27
    • 0031733260 scopus 로고    scopus 로고
    • Hyperhomocysteinemia and venous thrombosis: A meta-analysis
    • den Heijer M, Rosendaal FR, Blom HJ et al. Hyperhomocysteinemia and venous thrombosis: a meta-analysis. Thromb Haemost 1998; 80: 874-7.
    • (1998) Thromb. Haemost. , vol.80 , pp. 874-877
    • den Heijer, M.1    Rosendaal, F.R.2    Blom, H.J.3
  • 28
    • 0034050886 scopus 로고    scopus 로고
    • Mechanisms by which soluble endothelial cell protein C receptor modulates protein C and activated protein C function
    • Liaw PC, Neuenschwander PF, Smirnov MD et al. Mechanisms by which soluble endothelial cell protein C receptor modulates protein C and activated protein C function. J Biol Chem 2000; 275: 5447-52.
    • (2000) J. Biol. Chem. , vol.275 , pp. 5447-5452
    • Liaw, P.C.1    Neuenschwander, P.F.2    Smirnov, M.D.3
  • 29
    • 0842307339 scopus 로고    scopus 로고
    • A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis
    • Saposnik B, Reny JL, Gaussem P et al. A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis. Blood 2004; 103: 1311-8.
    • (2004) Blood , vol.103 , pp. 1311-1318
    • Saposnik, B.1    Reny, J.L.2    Gaussem, P.3
  • 30
    • 13244253704 scopus 로고    scopus 로고
    • Haplotypes of the EPCR gene, plasma sEPCR levels and the risk of deep venous thrombosis
    • Uitte de Willige S, Van Marion V, Rosendaal FR et al. Haplotypes of the EPCR gene, plasma sEPCR levels and the risk of deep venous thrombosis. J Tbromb Haemost 2004; 2: 1305-10.
    • (2004) J. Tbromb. Haemost. , vol.2 , pp. 1305-1310
    • Uitte de Willige, S.1    Van Marion, V.2    Rosendaal, F.R.3
  • 31
    • 2442433385 scopus 로고    scopus 로고
    • Contribution of polymorphisms in the endothelial protein C receptor gene to soluble endothelial protein C receptor and circulating activated protein C levels, and thrombotic risk
    • Medina P, Navarro S, Estelles A et al. Contribution of polymorphisms in the endothelial protein C receptor gene to soluble endothelial protein C receptor and circulating activated protein C levels, and thrombotic risk. Thromb Haemost 2004; 91: 905-11.
    • (2004) Thromb. Haemost. , vol.91 , pp. 905-911
    • Medina, P.1    Navarro, S.2    Estelles, A.3
  • 32
    • 11444268040 scopus 로고    scopus 로고
    • Selective modulation of protein C affinity for EPCR and phospholipids by Gla domain mutation
    • Preston RJ, Villegas-Mendez A, Sun YU et al. Selective modulation of protein C affinity for EPCR and phospholipids by Gla domain mutation. FEBS J 2005; 272:97-108.
    • (2005) FEBS J. , vol.272 , pp. 97-108
    • Preston, R.J.1    Villegas-Mendez, A.2    Sun, Y.U.3
  • 33
    • 33644649032 scopus 로고    scopus 로고
    • Soluble endothelial protein C receptor (sEPCR) levels and venous thromboembolism in carriers of two dysfunctional protein C variants
    • in press
    • Simioni P, Morboeuf O, Tognin G et al. Soluble endothelial protein C receptor (sEPCR) levels and venous thromboembolism in carriers of two dysfunctional protein C variants. Thromb Res in press.
    • Thromb. Res.
    • Simioni, P.1    Morboeuf, O.2    Tognin, G.3
  • 34
    • 0037079736 scopus 로고    scopus 로고
    • Plasma levels of endothelial protein C receptor respond to anticoagulant treatment
    • Stearns-Kurosawa DJ, Swindle K, D'Angelo A et al. Plasma levels of endothelial protein C receptor respond to anticoagulant treatment. Blood 2002; 99: 526-30.
    • (2002) Blood , vol.99 , pp. 526-530
    • Stearns-Kurosawa, D.J.1    Swindle, K.2    D'Angelo, A.3
  • 36
    • 0036881537 scopus 로고    scopus 로고
    • Laboratory issues in diagnosing abnormalities of protein C, thrombomodulin, and endothelial cell protein C receptor
    • Kottke-Marchant K, Comp P. Laboratory issues in diagnosing abnormalities of protein C, thrombomodulin, and endothelial cell protein C receptor. Arch Pathol Lab Med 2002; 126: 1337-48.
    • (2002) Arch. Pathol. Lab. Med. , vol.126 , pp. 1337-1348
    • Kottke-Marchant, K.1    Comp, P.2
  • 37
    • 8044234364 scopus 로고    scopus 로고
    • Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis
    • Protein C Study Group
    • Ireland H, Thompson E, Lane DA. Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group. Thromb Haemost 1996; 76: 867-73.
    • (1996) Thromb. Haemost. , vol.76 , pp. 867-873
    • Ireland, H.1    Thompson, E.2    Lane, D.A.3
  • 38
    • 0030967015 scopus 로고    scopus 로고
    • Comparison of naturally occurring vitamin K-dependent proteins: Correlation of amino acid sequences and membrane binding properties suggests a membrane contact site
    • McDonald JF, Shab AM, Schwalbe RA et al. Comparison of naturally occurring vitamin K-dependent proteins: correlation of amino acid sequences and membrane binding properties suggests a membrane contact site. Biochemistry 1997; 36: 5120-7.
    • (1997) Biochemistry , vol.36 , pp. 5120-5127
    • McDonald, J.F.1    Shab, A.M.2    Schwalbe, R.A.3
  • 39
    • 0029902451 scopus 로고    scopus 로고
    • Molecular basis for protein C hereditary deficiency
    • Aiach M, Gandrille S. Molecular basis for protein C hereditary deficiency. Haemostasis 1996; Suppl 4: 9-19.
    • (1996) Haemostasis , Issue.SUPPL. 4 , pp. 9-19
    • Aiach, M.1    Gandrille, S.2
  • 40
    • 0030877833 scopus 로고    scopus 로고
    • Protein C deficiency: From gene defects to disease
    • Reitsma PH. Protein C deficiency: from gene defects to disease. Thromb Haemost 1997; 78: 344-50.
    • (1997) Thromb. Haemost. , vol.78 , pp. 344-350
    • Reitsma, P.H.1
  • 42
    • 0036358475 scopus 로고    scopus 로고
    • 2+ binding to proteins containing γ-carboxyglutamic acid residues
    • 2+ binding to proteins containing γ-carboxyglutamic acid residues. Methods Mol Biol 2002;172:81-95.
    • (2002) Methods Mol. Biol. , vol.172 , pp. 81-95
    • Persson, E.1
  • 43
    • 0033559305 scopus 로고    scopus 로고
    • Vitamin K-dependent biosynthesis of γ-carboxyglutamic acid
    • Furiè B, Bouchard BA, Furie BC. Vitamin K-dependent biosynthesis of γ-carboxyglutamic acid. Blood 1999;93:1798-808.
    • (1999) Blood , vol.93 , pp. 1798-1808
    • Furiè, B.1    Bouchard, B.A.2    Furie, B.C.3
  • 44
    • 0027169164 scopus 로고
    • Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
    • Tartary M, Vidaud D, Piao Y et al. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. Br J Haematol 1993; 84: 662-9.
    • (1993) Br. J. Haematol. , vol.84 , pp. 662-669
    • Tartary, M.1    Vidaud, D.2    Piao, Y.3
  • 45
    • 0036456442 scopus 로고    scopus 로고
    • Two double heterozygous mutations in the F7 gene show different manifestations
    • Nagaizumi K, Inaba H, Suzuki T et al. Two double heterozygous mutations in the F7 gene show different manifestations. Br J Haematol 2002; 119: 1052-8.
    • (2002) Br. J. Haematol. , vol.119 , pp. 1052-1058
    • Nagaizumi, K.1    Inaba, H.2    Suzuki, T.3
  • 47
    • 0029790055 scopus 로고    scopus 로고
    • The endothelial cell protein C receptor augments protein C activation by the thrombin-thrombomodulin complex
    • Stearns-Kurosawa DJ, Kurosawa S, Mollica JS et al. The endothelial cell protein C receptor augments protein C activation by the thrombin-thrombomodulin complex. Proc Natl Acad Sci USA 1996; 93: 10212-6.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 10212-10216
    • Stearns-Kurosawa, D.J.1    Kurosawa, S.2    Mollica, J.S.3
  • 48
    • 0032489916 scopus 로고    scopus 로고
    • Activation mechanism of anticoagulant protein C in large blood vessels involving the endothelial cell protein C receptor
    • Fukudome K, Ye X, Tsuneyoshi N et al. Activation mechanism of anticoagulant protein C in large blood vessels involving the endothelial cell protein C receptor. J Exp Med 1998; 187: 1029-35.
    • (1998) J. Exp. Med. , vol.187 , pp. 1029-1035
    • Fukudome, K.1    Ye, X.2    Tsuneyoshi, N.3
  • 49
    • 0035869411 scopus 로고    scopus 로고
    • Endothelial cell protein C receptor plays an important role in protein C activation in vivo
    • Taylor FB, Jr., Peer GT, Lockhart MS et al. Endothelial cell protein C receptor plays an important role in protein C activation in vivo. Blood 200 1; 97: 1685-8.
    • (2001) Blood , vol.97 , pp. 1685-1688
    • Taylor Jr., F.B.1    Peer, G.T.2    Lockhart, M.S.3
  • 50
    • 0030666197 scopus 로고    scopus 로고
    • The interaction between the endothelial cell protein C receptor and protein C is dictated by the γ-carboxyglutamic acid domain of protein C
    • Regan LM, Mollica JS, Rezaie AR et al. The interaction between the endothelial cell protein C receptor and protein C is dictated by the γ-carboxyglutamic acid domain of protein C. J Biol Chem 1997; 272: 26279-84.
    • (1997) J. Biol. Chem. , vol.272 , pp. 26279-26284
    • Regan, L.M.1    Mollica, J.S.2    Rezaie, A.R.3
  • 51
    • 0037067752 scopus 로고    scopus 로고
    • The crystal structure of the endothelial protein C receptor and a bound phospholipid
    • Oganesyan V, Oganesyan N, Terzyan S et al. The crystal structure of the endothelial protein C receptor and a bound phospholipid. J Biol Chem 2002; 277: 24851-4.
    • (2002) J. Biol. Chem. , vol.277 , pp. 24851-24854
    • Oganesyan, V.1    Oganesyan, N.2    Terzyan, S.3


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