Property Summary

NCBI Gene PubMed Count 66
PubMed Score 56.37
PubTator Score 57.68

Knowledge Summary

Patent

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Protein-protein Interaction (10)

Gene RIF (36)

PMID Text
26275786 Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibbeta in a patient with Bernard-Soulier syndrome.
26203189 Data show that localization of the GP Ib-IX complex to the lipid domain is mediated by GP Ibbeta and GP IX transmembrane domains.
23995613 genetic association study in population in western India: Data suggest novel mutations in platelet glycoprotein Ib (GP1BA, GP1BB) and GP9 are associated with Bernard-Soulier syndrome in subjects studies; of 12 mutations identified, ten were novel.
23929303 Studies indicate that platelets from Bernard-Soulier syndrome (BSS) are defective in glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbalpha disulfide linked to GPIbbeta, and noncovalently associated with GPIX and GPV.
23566026 a suspicion of 22q11.2 deletion is warranted in pediatric BSS patients with a mutation in the GPIbbeta gene, even without remarkable symptoms.
22343686 A 14-month-old boy with Bernard-Soulier syndrome was found to be homozygous for a nonsense mutation (c.423C > A) in the glycoprotein Ib-beta.
21908432 GPIbbeta missense mutations from Bernard-Soulier syndrome were examined for changes to GPIb-IX complex surface expression. Mutations A108P and P74R were found to maintain normal secretion/folding of GPIbbeta(E) but were unable to support GPIX surface expression
21699652 Report glycoprotein Ib/IX complex mutations found in Bernard-Soulier syndrome in Indian patients.
21529934 GPIIb/IIIa is the primary receptor set involved in platelet adhesion to adsorbed fibrinogen and serum albumin irrespective of their degree of adsorption-induced unfolding, while the GPIb-IX-V receptor complex plays an insignificant role.
21507943 GP Ibbeta/GP IX mediates the disulfide-linked GP Ibalpha localization to the GEMs, which is critical for vWf interaction at high shear
21037087 -induced activation of GpIb-V-IX triggers platelet procoagulant activity and anchorage of a star-like fibrin network.
20946164 Identify TRAF4 as a novel binding partner for GPIb-IX-V and GPVI in human platelets.
20667040 Observational study of genotype prevalence. (HuGE Navigator)
19570064 Observational study of genetic testing. (HuGE Navigator)
19566547 putative convex surface of the LRR domain in GPIX is sufficient, in the context of full-length subunit, to mediate its association with GPIbbeta
19484238 A novel variant of Bernard Soulier syndrome is described in which Ser23 of GPIbbeta is substituted by a Stop codon causing a premature termination of translation.
18825380 novel Ser 23 Stop mutation in GPIbbeta is responsible of BSS in the studied family and hampers the complex to form on the platelets surface.
18752571 proplatelet formation in human megakaryocytes undergoes a complex spatio-temporal regulation orchestrated by adhesive proteins, GPIb-IX-V and myosin IIA
18674540 Data demonstrate the native-like heteromeric interaction among the isolated Ibalpha, Ib beta and IX TM peptides, which provides support for the four-helix bundle model of the TM domains in the glycoprotein Ib-IX complex.
18637125 the N1421K substitution in the VWF affects the GPIb binding site or a recognition element by a conformational change of the A1 domain.
18064328 Velocardiofacial syndrome patients have in-vitro defects in platelet function that may increase their risk of bleeding during surgery.
17922811 The transmembrane domain of GPIX plays an important role in expression and assembly of the GPIb-IX complex by interacting with its counterparts of GPIb.
17597992 REVIEW OF GP1BB AND GP1BA BINDING SITES FOR LIGANDS, INTERACTIONS WITH VWF AND THROMBIN, ROLE IN PLATELET ACTIVATION
15477207 Observational study of genetic testing. (HuGE Navigator)
15213102 The SEPT5 gene resides approximately 250 nucleotides 5' to the GP Ibbeta gene and has been associated with modulating exocytosis from neurons and platelets as part of a presynaptic protein complex
12958615 identified novel GPIbbeta mutation is responsible for the Bernard-Soulier syndrome phenotype and provide an explanation for the molecular mechanism underlying the reduced platelet content of GPIb-IX complex in the heterozygous individuals studied
12860973 To determine the sequence in the beta3 cytoplasmic domain that is critical to integrin signaling, cell lines were established that coexpress the platelet receptor for GP1BB.
12648286 Observational study of genotype prevalence. (HuGE Navigator)
12529755 novel hemizygous variant of Bernard-Soulier Syndrome in which Pro29 in one GPIbbeta allele is substituted by a Leu
12522011 The GPIb beta intracellular domain has a role in controlling the adhesive properties of the GPIb/V/IX complex through phosphorylation of GPIb beta Ser166 and point to the existence of cross-talk between the GPIb beta and GPIb alpha intracellular domains.
12463594 structure-activity relationship of mutations found in Bernard-Soulier syndrome
12361948 PKA-mediated phosphorylation of GPIbbeta at Ser(166) negatively regulates VWF binding to GPIb-IX and is one of the mechanisms by which PKA mediates platelet inhibition
12036872 The cysteine knot of platelet GPIb beta is critical for the interaction of GPIb beta with GPIX.
11816714 A GP1BB missense mutation suppresses GPIb/IX complex expression and is found to cause Bernard-Soulier Syndrome in the homozygous form and giant platelets in the heterozygous form.
11816713 Role of GPIbbeta in modulating vWF mediated platelet adhesion.
11812775 Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3

AA Sequence

MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTAL      1 - 70
PPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAA     71 - 140
CAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES        141 - 206
//

Text Mined References (71)

PMID Year Title
26275786 2015 Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ib? in a patient with Bernard-Soulier syndrome.
26203189 2015 The Transmembrane Domains of ? and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23995613 2014 Novel genetic abnormalities in Bernard-Soulier syndrome in India.
23929303 2013 Bernard-Soulier syndrome: an update.
23725790 2013 GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
23566026 2013 Bernard-Soulier syndrome caused by a hemizygous GPIb? mutation and 22q11.2 deletion.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22343686 2012 Novel mutation in the glycoprotein Ib? in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
21908432 2011 Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIb? and a GPIb?/GPIX chimera.
21699652 2011 Molecular basis of Bernard-Soulier syndrome in 27 patients from India.
21529934 2011 Delineating the roles of the GPIIb/IIIa and GP-Ib-IX-V platelet receptors in mediating platelet adhesion to adsorbed fibrinogen and albumin.
21507943 2011 Platelet glycoprotein Ib beta/IX mediates glycoprotein Ib alpha localization to membrane lipid domain critical for von Willebrand factor interaction at high shear.
21037087 2011 Key role of glycoprotein Ib/V/IX and von Willebrand factor in platelet activation-dependent fibrin formation at low shear flow.
20946164 2011 TNF receptor-associated factor 4 (TRAF4) is a novel binding partner of glycoprotein Ib and glycoprotein VI in human platelets.
20667040 2010 The allele frequencies of HPA 1-16 determined by PCR-SSP in Chinese Cantonese donors.
19570064 2009 Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing.
19566547 2009 Binding of platelet glycoprotein Ibbeta through the convex surface of leucine-rich repeats domain of glycoprotein IX.
19484238 2010 The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIb?.
19367720 2008 Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.
18825380 2009 Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.
18789323 2008 Juxtamembrane basic residues in glycoprotein Ibbeta cytoplasmic domain are required for assembly and surface expression of glycoprotein Ib-IX complex.
18752571 2008 Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes.
18674540 2008 Specific heteromeric association of four transmembrane peptides derived from platelet glycoprotein Ib-IX complex.
18637125 2008 N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets.
18088087 2008 Phosphoproteome of resting human platelets.
18064328 2007 Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients.
17922811 2007 Role of the transmembrane domain of glycoprotein IX in assembly of the glycoprotein Ib-IX complex.
17597992 2007 A short history of platelet glycoprotein Ib complex.
17008541 2007 Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet.
15477207 2004 Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.
15213102 2004 Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size.
12958615 2003 Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes.
12871509 2003 von Willebrand factor (VWF)-dependent human platelet activation: porcine VWF utilizes different transmembrane signaling pathways than does thrombin to activate platelets, but both require protein phosphatase function.
12860973 2003 Critical roles for the COOH-terminal NITY and RGT sequences of the integrin beta3 cytoplasmic domain in inside-out and outside-in signaling.
12855811 2003 Crystal structure of the GpIbalpha-thrombin complex essential for platelet aggregation.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12648286 2003 Expression of low-frequency Ala108Pro substitution in the platelet glycoprotein Ibbeta gene.
12529755 2002 A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.
12522011 2003 Role of the intracellular domains of GPIb in controlling the adhesive properties of the platelet GPIb/V/IX complex.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12463594 2002 Genetic abnormalities of Bernard-Soulier syndrome.
12361948 2002 Regulation of glycoprotein Ib-IX-von Willebrand factor interaction by cAMP-dependent protein kinase-mediated phosphorylation at Ser 166 of glycoprotein Ib(beta).
12036872 2002 The cysteine knot of platelet glycoprotein Ib beta (GPIb beta) is critical for the interaction of GPIb beta with GPIX.
11943773 2002 Identification of the regulatory elements of the human von Willebrand factor for binding to platelet GPIb. Importance of structural integrity of the regions flanked by the CYS1272-CYS1458 disulfide bond.
11816714 2001 A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.
11816713 2001 A novel monoclonal antibody against the extracellular domain of GPIbbeta modulates vWF mediated platelet adhesion.
11812775 2002 Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3.
10887121 2000 Phosphoinositide 3-kinase forms a complex with platelet membrane glycoprotein Ib-IX-V complex and 14-3-3zeta.
10887115 2000 Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.
10627461 2000 Cytoplasmic domains of GpIbalpha and GpIbbeta regulate 14-3-3zeta binding to GpIb/IX/V.
10429193 1999 A CD9, alphaIIbbeta3, integrin-associated protein, and GPIb/V/IX complex on the surface of human platelets is influenced by alphaIIbbeta3 conformational states.
9611266 1998 Structure and expression of the human septin gene HCDCREL-1.
9425086 1998 Binding of purified 14-3-3 zeta signaling protein to discrete amino acid sequences within the cytoplasmic domain of the platelet membrane glycoprotein Ib-IX-V complex.
9116284 1997 Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
9022087 1997 Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence.
8703016 1996 Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
8608228 1996 Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V.
8467233 1993 Platelet alpha-granules.
8200976 1994 Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22.
8034572 1994 Association of a phospholipase A2 (14-3-3 protein) with the platelet glycoprotein Ib-IX complex.
8021244 1994 Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta.
7782333 1995 Interaction of platelet glycoprotein V with glycoprotein Ib-IX regulates expression of the glycoproteins and binding of von Willebrand factor to glycoprotein Ib-IX in transfected cells.
7690959 1993 Human platelet glycoprotein V: characterization of the polypeptide and the related Ib-V-IX receptor system of adhesive, leucine-rich glycoproteins.
4044584 1985 Identification of actin-binding protein as the protein linking the membrane skeleton to glycoproteins on platelet plasma membranes.
3632685 1987 Isolation and characterization of the alpha and beta chains of human platelet glycoprotein Ib.
3353370 1988 The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence.
3161731 1985 Purification and preliminary characterization of the glycoprotein Ib complex in the human platelet membrane.
2557900 1989 Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex.
2504723 1989 Platelet glycoprotein Ib beta is phosphorylated on serine 166 by cyclic AMP-dependent protein kinase.
1939645 1991 von Willebrand factor binding to platelet GpIb initiates signals for platelet activation.