References
Cloning of the alpha chain of human platelet glycoprotein Ib
a transmembrane protein with homology to leucine-rich alpha 2-glycoprotein.Lopez J.A., Chung D.W., Fujikawa K., Hagen F.S., Papayannopoulou T., Roth G.J.Proc. Natl. Acad. Sci. U.S.A. 84:5615-5619(1987)
Structure of the human blood platelet membrane glycoprotein Ib alpha gene.Wenger R.H., Kieffer N., Wicki A.N., Clemetson K.J.Biochem. Biophys. Res. Commun. 156:389-395(1988)
A novel polymorphism, 70Leu/Phe, disrupts a consensus Leu residue within the leucine-rich repeat sequence of platelet glycoprotein Ibalpha.Matsubara Y., Murata M., Moriki T., Yokoyama K., Watanabe N., Nakajima H., Handa M., Kawano K., Aoki N., Yoshino H., Ikeda Y.Thromb. Haemost. 87:867-872(2002)
Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.Matsubara Y., Murata M., Sugita K., Ikeda Y.J. Thromb. Haemost. 1:2198-2205(2003)
SeattleSNPs variation discovery resourceDNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.Nature 440:1045-1049(2006)
Amino acid sequence of the von Willebrand factor-binding domain of platelet membrane glycoprotein Ib.Titani K., Takio K., Handa M., Ruggeri Z.M.Proc. Natl. Acad. Sci. U.S.A. 84:5610-5614(1987)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.Nat. Biotechnol. 21:566-569(2003)
StyI polymorphism at nucleotide 1610 in the human platelet glycoprotein Ib alpha gene.Suzuki K., Hayashi T., Akiba J., Yahagi A., Tajima K., Satoh S., Sasaki H.Jpn. J. Hum. Genet. 41:419-421(1996)
Identification of the disulphide bonds in human platelet glycocalicin.Hess D., Schaller J., Rickli E.E., Clemetson K.J.Eur. J. Biochem. 199:389-393(1991)
Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha.Takafuta T., Wu G., Murphy G.F., Shapiro S.S.J. Biol. Chem. 273:17531-17538(1998)
Elucidation of N-glycosylation sites on human platelet proteins
a glycoproteomic approach.Lewandrowski U., Moebius J., Walter U., Sickmann A.Mol. Cell. Proteomics 5:226-233(2006)
Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet.Luo S.Z., Mo X., Afshar-Kharghan V., Srinivasan S., Lopez J.A., Li R.Blood 109:603-609(2007)
Phosphoproteome of resting human platelets.Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.J. Proteome Res. 7:526-534(2008)
Crystal structure of the platelet glycoprotein Ibalpha N-terminal domain reveals an unmasking mechanism for receptor activation.Uff S., Clemetson J.M., Harrison T., Clemetson K.J., Emsley J.J. Biol. Chem. 277:35657-35663(2002)
Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain.Huizinga E.G., Tsuji S., Romijn R.A., Schiphorst M.E., de Groot P.G., Sixma J.J., Gros P.Science 297:1176-1179(2002)
Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha.Whisstock J.C., Shen Y., Lopez J.A., Andrews R.K., Berndt M.C.Thromb. Haemost. 87:329-333(2002)
Genetic and structural characterization of an amino acid dimorphism in glycoprotein Ib alpha involved in platelet transfusion refractoriness.Murata M., Furihata K., Ishida F., Russell S.R., Ware J., Ruggeri Z.M.Blood 79:3086-3090(1992)
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.Miller J.L., Lyle V.A., Cunningham D.Blood 79:439-446(1992)
Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications.Lopez J.A., Ludwig E.H., McCarthy B.J.J. Biol. Chem. 267:10055-10061(1992)
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.Ware J., Russell S.R., Marchese P., Murata M., Mazzucato M., de Marco L., Ruggeri Z.M.J. Clin. Invest. 92:1213-1220(1993)
Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.Simsek S., Noris P., Lozano M., Pico M., von Dem Borne A.E.G.K., Ribera A., Gallardo D.Br. J. Haematol. 88:839-844(1994)
Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.Miller J.L., Cunningham D., Lyle V.A., Finch C.N.Proc. Natl. Acad. Sci. U.S.A. 88:4761-4765(1991)
Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.Murata M., Russell S.R., Ruggeri Z.M., Ware J.J. Clin. Invest. 91:2133-2137(1993)
Pseudo-von Willebrand disease
a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.Russell S.D., Roth G.J.Blood 81:1787-1791(1993)
The largest variant of platelet glycoprotein Ib alpha has four tandem repeats of 13 amino acids in the macroglycopeptide region and a genetic linkage with methionine145.Ishida F., Furihata K., Ishida K., Yan J., Kitano K., Kiyosawa K., Furuta S.Blood 86:1357-1360(1995)
A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I)
.de la Salle C., Baas M.-J., Lanza F., Schwartz A., Hanau D., Chevalier J., Gachet C., Briquel M.-E., Cazenave J.-P.Br. J. Haematol. 89:386-396(1995)
Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.Kenny D., Jonsson O.G., Morateck P.A., Montgomery R.R.Blood 92:175-183(1998)
Characterization of single-nucleotide polymorphisms in coding regions of human genes.Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.Nat. Genet. 22:231-238(1999)
ErratumCargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.Nat. Genet. 23:373-373(1999)
Molecular characterization of two mutations in platelet glycoprotein (GP)
Ib alpha in two Finnish Bernard-Soulier syndrome families.Koskela S., Partanen J., Salmi T.T., Kekomaki R.Eur. J. Haematol. 62:160-168(1999)
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.Savoia A., Balduini C.L., Savino M., Noris P., Del Vecchio M., Perrotta S., Belletti S., Poggi V., Iolascon A.Blood 97:1330-1335(2001)
Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene.Salomon O., Rosenberg N., Steinberg D.M., Huna-Baron R., Moisseiev J., Dardik R., Goldan O., Kurtz S., Ifrah A., Seligsohn U.Ophthalmology 111:184-188(2004)
+Additional computationally mapped references.<p>Provides general information on the entry.