GP9 Gene
protein-coding GIFtS : 66
GCID: GC03 P128779
glycoprotein IX (platelet)
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Aliasesfor GP9 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Glycoprotein IX (Platelet) 1 2 GP-IX2 3 GPIX1 2 3 Platelet Glycoprotein IX2 CD42a1 2 CD42a Antigen3 Glycoprotein 92 3
Export aliases for GP9 gene to outside databases Previous GC identifers: GC03P125730 GC03P129161 GC03P130062 GC03P130100 GC03P130262 GC03P126166
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Summariesfor GP9 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for GP9 : This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. (provided by RefSeq, Oct 2008) UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770 Function : The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to bloodvessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib Gene Wiki entry for GP9 (Glycoprotein IX)
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Genomic Viewsfor GP9 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000003.11 NC_018914.1 NT_005612.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the GP9 gene promoter: AML1a HTF Pax-4a Other transcription factors Search SABiosciences Chromatin IP Primers for GP9 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GP9
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3q21.3 Ensembl cytogenetic band: 3q21.3 HGNC cytogenetic band: 3q21.3 GP9 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03P128779: view genomic region
(about GC identifiers )
Start:
128,779,610 bp from pter
End:
128,781,253 bp from pter
Size:
1,644 bases
Orientation:
plus strand
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Proteinsfor GP9 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770 (See
protein sequence )Recommended Name: Platelet glycoprotein IX precursor Size : 177 amino acids; 19046 Da
Subunit : Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via anon covalent linkage
Subcellular location : Membrane; Single-pass type I membrane protein
Miscellaneous : Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with theplatelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein
Secondary accessions : Q14445 Q8N1D1 Q92525Explore the universe of human proteins at neXtProt for GP9: NX_P14770 GP9 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000165.1 ENSEMBL proteins: ENSP00000303942 Reactome Protein details: P14770 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
GP9 for ontologies About GeneDecksing GP9 Antibody Products: Assay Products for GP9:
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Protein
Domains / Familiesfor GP9 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
GP9 for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P14770 ProtoNet protein and cluster: P14770
3 Blocks protein families : IPB000372 Cysteine-rich flanking region IPB000483 Cysteine-rich flanking region IPB001611 Leucine-rich repeat signature UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770 Similarity : Contains 1 LRR (leucine-rich) repeatSimilarity : Contains 1 LRRCT domainSimilarity : Contains 1 LRRNT domain
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Functionfor GP9 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770 Function : The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to bloodvessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib
Genatlas biochemistry entry for GP9 : platelet glycoprotein IX (20kDa),non covalently bound to the GP1B complex in the von Willebrand receptor Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for GP9 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for GP9OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: GP9 (NM_000174 ) Sino Biological Human cDNA Clone for GP9 DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GP9 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GP9
2 GenomeRNAi human phenotypes for GP9 :
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Pathways & Interactionsfor GP9 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/7 super-pathways (see all 7 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Formation of Fibrin Clot (Clotting Cascade) 2 GP1b signaling involves c-Src 3 Platelet activation, signaling and aggregation 4 Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 5 Hematopoietic cell lineage
Pathway sources See GeneCards unified pathways Show all pathways 1 R&D Systems Pathway for GP9 5/8
Reactome Pathways for GP9 (see all 8 )1 PharmGKB Pathway for GP9 2
Kegg Pathways (Kegg details for GP9) :
GP9 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GP9 STRING Interaction
Network Preview (showing 5 interactants - click image to see 17)5/18 Interacting proteins for GP9 (P14770 2 , 3 ENSP00000303942 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 18 )About this table Gene Ontology (GO): 4 biological process terms (GO ID links to tree view) : About this table
GP9 for ontologies About GeneDecksing
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Drugs & Compoundsfor GP9 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
GP9 for compounds About GeneDecksing Browse Tocris compounds for GP9 1 DrugBank Compound for GP9 About this table 9 Novoseek chemical compound relationships for GP9 gene About this table
Search CenterWatch for drugs/clinical trials and news about GP9 / GPIX
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Transcriptsfor GP9 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for GP9 gene: NM_000174.3 Unigene Cluster for GP9:
Glycoprotein IX (platelet) Hs.1144 [show with all ESTs ] Unigene Representative Sequence: BI767815 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000307395 (uc003elm.2 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for GP9 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for GP9OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: GP9 (NM_000174 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GP9 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GP9
Additional cDNA sequence: BC030229.1 M25827.1 X52997.1
1 DOTS entry : DT.108278
15 AceView cDNA sequences :
BM971739 BX281420 BI833212 BU731152 AI191393 M25827 NM_000174 BV199081 BI767815 X52997 BC030229 BM694545 AA701315 AI382849 N64220 GeneLoc Exon Structure
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Expression for GP9 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section GP9 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCCCGCTGGG
About this image GP9 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See GP9 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for GP9 SOURCE GeneReport for Unigene cluster: Hs.1144 SABiosciences Custom PCR Arrays for GP9 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for GP9Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat GP9 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat GP9 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat GP9
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Orthologsfor GP9 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of chordates.
Orthologs for GP9 gene from 4/10 species (see all 10 ) About this table
ENSEMBL Gene Tree for GP9 (if available)TreeFam Gene Tree for GP9 (if available)
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Paralogsfor GP9 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for GP9 gene GP1BB 2 1 SIMAP similar gene for GP9 using alignment to 2 protein entries: GPIX_HUMAN (see all proteins ):GP1BB
GP9 for paralogs About GeneDecksing
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Genomic Variantsfor GP9 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 3 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for GP9 (128779610 - 128781253 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for GP9: -- Human Gene Mutation Database (HGMD) : GP9 Locus Specific Mutation Databases (LSDB): GP9 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing GP9
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Disorders
/ Diseasesfor GP9 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
GP9 for disorders About GeneDecksing OMIM gene information: 173515 OMIM disorders : 231200 UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770
Defects in GP9 are a cause of Bernard-Soulier syndrome (BSS) [MIM:231200]; also known as giant platelet disease (GPD). BSS patients have unusually large platelets and have a clinical bleeding tendency 15 diseases for GP9 : About MalaCards bernard-soulier syndrome bernard-soulier syndrome type c gray platelet syndrome glanzmann's thrombasthenia von willebrand's disease megakaryoblastic leukemia thrombasthenia acute megakaryoblastic leukemia macrothrombocytopenia velocardiofacial syndrome thrombocytopenia liver disease thrombosis leukemia sepsis 2 diseases from the University of Copenhagen DISEASES database for GP9 :Bernard-Soulier syndrome Thrombocytopenia 6 Novoseek disease relationships for GP9 gene About this table
Genatlas disease: GP9 Bernard-Soulier syndrome Genetic Association Database (GAD): GP9 Human Genome Epidemiology (HuGE) Navigator: GP9 (3 documents) Export disorders for GP9 gene to outside databases
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Publicationsfor GP9 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for GP9 gene integrated from 9 sources (see top 10 ): (articles sorted by number of sources associating them with GP9) Utopia : connect your pdf to the dynamic world of online information
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. (PubMed id 9163595) 1 , 2 , 4, 9 Noris P.... von dem Borne A.E.G.K. (1997) Human platelet glycoprotein IX. Characterization of cDNA and localization of the gene to chromosome 3. (PubMed id 2253772) 1 , 2 , 3, 9 Hickey M.J.... Roth G.J. (1990) Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. (PubMed id 11167791) 1 , 2 , 9 Rivera C.E....Rick M.E. (2001) Characterization of the gene encoding human platelet glycoprotein IX. (PubMed id 8429020) 1 , 2 , 9 Hickey M.J. and Roth G.J. (1993) A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. (PubMed id 9886312) 1 , 2 , 9 Noris P.... Balduini C.L. (1998) Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. (PubMed id 10583255) 1 , 2 , 9 Kunishima S....Saito H. (1999) Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. (PubMed id 9432024) 1 , 4, 9 Suzuki K....Sasaki H. (1997) Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. (PubMed id 8481514) 1 , 2 , 9 Wright S.D.... Tuddenham E.G. (1993) A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient. (PubMed id 11758225) 1 , 2 , 9 Wang Z.... Han Y. (2001) Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PubMed id 15477207) 1 , 4, 9 Noris P....Balduini C.L. (2004) Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801) 1 , 2 Gevaert K.... Vandekerckhove J. (2003) A Leu7-to-Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. (PubMed id 12100158) 1 , 2 Lanza F.... Caen J.P. (2002) Corrected DNA sequence of the platelet glycoprotein IX gene. (PubMed id 9184424) 1 , 2 Hayashi T. and Suzuki K. (1997) Human platelet glycoprotein IX: an adhesive prototype of leucine-rich glycoproteins with flank-center-flank structures. (PubMed id 2771955) 1 , 2 Hickey M.J.... Roth G.J. (1989) Isolation and characterization of human platelet glycoprotein IX. (PubMed id 3056407) 1 , 2 Roth G.J.... Williams S.A. (1988) Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. (PubMed id 8049428) 1 , 9 Clemetson J.M....Clemetson K.J. (1994) A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype. (PubMed id 19404517) 1 , 9 Zieger B....Wuillemin W.A. (2009) Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. (PubMed id 14510954) 1 , 9 Sachs U.J....Santoso S. (2003) Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. (PubMed id 8608228) 1 , 9 Berger G....Cramer E.M. (1996) First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S. (PubMed id 17804902) 1 , 9 Dagistan N. and Kunishima S. (2007) Genetic abnormalities of Bernard-Soulier syndrome. (PubMed id 12463594) 1 , 9 Kunishima S....Saito H. (2002) A CD9, alphaIIbbeta3, integrin-associated protein, and GPIb/V/IX complex on the surface of human platelets is influenced by alphaIIbbeta3 conformational states. (PubMed id 10429193) 1 , 9 Longhurst C.M....Jennings L.K. (1999) Quaternary organization of GPIb-IX complex and insigh ts into Bernard-Soulier syndrome revealed by the structures of GPIbI^ and a GPIb I^/GPIX chimera. (PubMed id 21908432) 1 McEwan P.A....Emsley J. (2011) Delineating the roles of the GPIIb/IIIa and GP-Ib-IX- V platelet receptors in mediating platelet adhesion to adsorbed fibrinogen and albumin. (PubMed id 21529934) 1 Sivaraman B. and Latour R.A. (2011) Molecular basis of Bernard-Soulier syndrome in 27 pat ients from India. (PubMed id 21699652) 1 Sumitha E....Srivastava A. (2011) Platelet glycoprotein Ib beta/IX mediates glycoprotei n Ib alpha localization to membrane lipid domain critical for von Willebrand fa ctor interaction at high shear. (PubMed id 21507943) 1 Geng H....Peng Y. (2011) The platelet glycoprotein Ib-IX-V complex anchors lip id rafts to the membrane skeleton: implications for activation-dependent cytosk eletal translocation of signaling molecules. (PubMed id 19874464) 1 Munday A.D....LA^pez J.A. (2010) Binding of platelet glycoprotein Ibbeta through the c onvex surface of leucine-rich repeats domain of glycoprotein IX. (PubMed id 19566547) 1 Mo X....Li R. (2009) Identification of five novel 14-3-3 isoforms interact ing with the GPIb-IX complex in platelets. (PubMed id 19558434) 1 Mangin P.H....Lanza F. (2009) Intrinsic impaired proplatelet formation and microtub ule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrom e. (PubMed id 19377075) 1 Strassel C....Lanza F. (2009) The glycoprotein Ib-IX-V complex contributes to tissue factor-independent thrombin generation by recombinant factor VIIa on the activated platelet surface. (PubMed id 18612104) 1 Weeterings C....Lisman T. (2008) Specific heteromeric association of four transmembrane peptides derived from platelet glycoprotein Ib-IX complex. (PubMed id 18674540) 1 Luo S.Z. and Li R. (2008) Association of human platelet alloantigen 1 through 5 polymorphisms with ischemic stroke. (PubMed id 18057877) 1 Saidi S....Almawi W.Y. (2008) Redundant mechanism of platelet adhesion to laminin and collagen under flow: involvement of von Willebrand factor and glycoprotein Ib-IX-V. (PubMed id 18450753) 1 Inoue O....Ozaki Y. (2008) Human platelet antigens polymorphisms and susceptibility of thrombosis in hemodialysis patients. (PubMed id 18638089) 1 Gorgi Y....Ayed K. (2008) Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins. (PubMed id 17192395) 1 Macaulay I.C....Ouwehand W.H. (2007) Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147) 1 Wu C....Li S.S. (2007) Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. (PubMed id 17763149) 1 Afrasiabi A....Mannucci P.M. (2007) Role of the transmembrane domain of glycoprotein IX in assembly of the glycoprotein Ib-IX complex. (PubMed id 17922811) 1 Luo S.Z....Li R. (2007) A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome. (PubMed id 15351858) 1 Wang Z....Ruan C. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 2 Gerhard D.S....Malek J. (2004) Crystal structure of the GpIbalpha-thrombin complex essential for platelet aggregation. (PubMed id 12855811) 1 Dumas J.J....Mosyak L. (2003) Drug-induced thrombocytopenia: localization of the binding site of GPIX-specific quinine-dependent antibodies. (PubMed id 12738668) 7 Asvadi P....Chong B.H. (2003) The cysteine knot of platelet glycoprotein Ib beta (GPIb beta) is critical for the interaction of GPIb beta with GPIX. (PubMed id 12036872) 1 Kenny D....Montgomery R.R. (2002) Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3. (PubMed id 11812775) 1 Kasirer-Friede A....Shattil S.J. (2002) Regulation of glycoprotein Ib-IX-von Willebrand factor interaction by cAMP-dependent protein kinase-mediated phosphorylation at Ser 166 of glycoprotein Ib(beta). (PubMed id 12361948) 1 Bodnar R.J....Du X. (2002) Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. (PubMed id 12447957) 1 Kunishima S....Saito H. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Both the high affinity thrombin receptor (GPIb-IX-V) and GPIIb/IIIa are implicated in expression of thrombin-induced platelet procoagulant activity. (PubMed id 11686325) 1 Dicker I.B....Greco N.J. (2001) Phosphoinositide 3-kinase forms a complex with platel et membrane glycoprotein Ib-IX-V complex and 14-3-3zeta. (PubMed id 10887121) 1 Munday A.D....Mitchell C.A. (2000) Human kininogens regulate thrombin binding to platelets through the glycoprotein Ib-IX-V complex. (PubMed id 9269768) 1 Bradford H.N....Colman R.W. (1997) Molecular characterization of mouse T-cell ecto-ADP-ribosyltransferase Rt6: cloning of a second functional gene and identification of the Rt6 gene products. (PubMed id 8811076) 1 Hollmann C....Koch-Nolte F. (1996) 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. (PubMed id 7782333) 1 Meyer S.C. and Fox J.E. (1995) Platelet alpha-granules. (PubMed id 8467233) 1 Harrison P. and Cramer E.M. (1993) von Willebrand factor binding to platelet GpIb initiates signals for platelet activation. (PubMed id 1939645) 1 Kroll M.H....Schafer A.I. (1991) 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. (PubMed id 2557900) 1 Andrews R.K....Berndt M.C. (1989) Glycoprotein Ib and glycoprotein IX are fully complexed in the intact platelet membrane. (PubMed id 2436691) 1 Du X....Berndt M.C. (1987) Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin. (PubMed id 16251900) 9 Garner C....Thein S.L. (2006) The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome. (PubMed id 10216092) 9 Kenny D....Montgomery R.R. (1999) A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome. (PubMed id 8972003) 9 Noda M....Sano M. (1996) [Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome] (PubMed id 14575593) 9 Zhao X.J....Ruan C.G. (2003) Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome. (PubMed id 11297032) 9 Vanhoorelbeke K....Deckmyn H. (2001) The platelet surface expression of glycoprotein V is regulated by two independent mechanisms: proteolysis and a reversible cytoskeletal-mediated redistribution to the surface-connected canalicular system. (PubMed id 8608229) 9 Michelson A.D....Nurden A.T. (1996) Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX. (PubMed id 15550031) 9 Shi Q....Montgomery R.R. (2004) Inducible expression of the megakaryocyte-specific gene glycoprotein IX is mediated through an Ets binding site and involves upstream activation of extracellular signal-regulated kinase. (PubMed id 11504709) 9 Eisbacher M....Chong B.H. (2001) Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. (PubMed id 10887115) 9 Moran N....Kenny D. (2000) Regulation of the megakaryocytic glycoprotein IX promoter by the oncogenic Ets transcription factor Fli-1. (PubMed id 10194443) 9 Bastian L.S....Roth G. (1999) Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. (PubMed id 8772211) 9 Noda M....Kakishita E. (1995) A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor. (PubMed id 12693941) 9 Strassel C....Nurden A.T. (2003) Human endothelial cells in culture and in vivo express on their surface all four components of the glycoprotein Ib/IX/V complex. (PubMed id 9326233) 9 Wu G....Shapiro S.S. (1997) Molecular pathogenesis of Bernard-Soulier syndrome. (PubMed id 10805283) 9 Hayashi T. and Suzuki K. (2000) Down-regulation and redistribution of GPV/GPVf2, a subunit of von Willebrand factor receptor (GPIb/IX/V complex), on the surface membrane of thrombin-stimulated human platelets. (PubMed id 10027712) 9 Kawano H....Fujimura K. (1999) Characterization of the binding domains on platelet glycoproteins Ib-IX and IIb/IIIa complexes for the quinine/quinidine-dependent antibodies. (PubMed id 1709374) 9 Chong B.H....Chesterman C.N. (1991) Proteomic approach to substrates related to MAPK pathway in 293T cells. (PubMed id 17046291) 9 Zhang G. and Wang S. (2007) Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes. (PubMed id 12958615) 9 Gonzalez-Manchon C....Parrilla R. (2003) Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. (PubMed id 10928480) 9 Kunishima S....Saito H. (2000) Quinine-dependent antibodies bind a restricted set of epitopes on the glycoprotein Ib-IX complex: characterization of the epitopes. (PubMed id 9746776) 9 Burgess J.K....Chong B.H. (1998) Flow cytometry as a tool in the diagnosis of Bernard-Soulier syndrome in Brazilian patients. (PubMed id 19459130) 9 Beltrame M.P....Pasquini R. (2009) A novel homozygous 8-base pair deletion mutation in t he glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome. (PubMed id 19448529) 9 Imai C....Uchiyama M. (2009) Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression. (PubMed id 18825380) 9 Hadjkacem B....Gargouri A. (2009) Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). (PubMed id 17109744) 9 Lanza F. (2006) Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. (PubMed id 15609295) 9 Drouin J....Laneuville O. (2005) A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS). (PubMed id 16268478) 9 Liang H.P....Ward C.M. (2005) Filamin A binding stabilizes nascent glycoprotein Ibalpha trafficking and thereby enhances its surface expression. (PubMed id 15623510) 9 Feng S....Kroll M.H. (2005) Different levels of platelet activation in preeclamptic, normotensive pregnant, and nonpregnant women. (PubMed id 15118653) 9 Holthe M.R....Lyberg T. (2004) Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. (PubMed id 12850844) 9 Toyohama T....Takasu N. (2003) [Autoimmune thrombocytopenia in chronic liver disease] (PubMed id 11899844) 9 Panasiuk A. and Zak J. (2001) Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. (PubMed id 11418466) 9 Freson K.... Van Geet C. (2001) Characterization of cDNA encoding full-length mouse platelet glycoprotein IX. (PubMed id 9690810) 9 Kitaguchi T....Ikeda Y. (1998) An antibody from a patient with ranitidine-induced thrombocytopenia recognizes a site on glycoprotein IX that is a favored target for drug-induced antibodies. (PubMed id 9746775) 9 Gentilini G....Aster R.H. (1998) Elevated plasma glycocalicin levels and decreased ris tocetin-induced platelet agglutination in hemodialysis patients. (PubMed id 9669434) 9 Himmelfarb J....Ault K. (1998) Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. (PubMed id 9579882) 9 Iwanaga M....Naoe T. (1998) Effect of a new monoclonal anti-glycoprotein IX antib ody, KMP-9, on high shear-induced platelet aggregation. (PubMed id 9268193) 9 Miyake T....Fukuhara S. (1997) Recurrent mutation Asn45-->Ser of glycoprotein IX in Bernard-Soulier syndrome. (PubMed id 8856096) 9 Donner M....Holmberg L. (1996) The glycoprotein Ib-IX complex-specific monoclonal antibody SZ1 binds to a conformation-sensitive epitope on glycoprotein IX: implications for the target antigen of quinine/quinidine-dependent autoantibodies. (PubMed id 7532036) 9 Lopez J.A....Chambers M. (1995) Platelet GPIb-V-IX complex. Structure, function, physiology, and pathology. (PubMed id 7660135) 9 Clemetson K.J. and Clemetson J.M. (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). (PubMed id 7873390) 9 de la Salle C.... Cazenave J.-P. (1995) Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease. (PubMed id 9371310) 9 Clemetson K.J. and Clemetson J.M. (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. (PubMed id 8200976) 9 Kelly M.D.... Konkle B.A. (1994) Substantial expression of glycoproteins IX and V on the platelet surface from a patient with Bernard-Soulier syndrome. (PubMed id 7947243) 9 Arai M....Tanoue K. (1994) Glycoproteins V and Ib-IX form a noncovalent complex in the platelet membrane. (PubMed id 1730602) 9 Modderman P.W....von dem Borne A.E. (1992) Modularity of the oncoprotein-like properties of platelet glycoprotein Ibalpha. (PubMed id 19017648) 9 Li Y....Prochownik E.V. (2009) Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. (PubMed id 18064328) 9 Liang H.P....Ward C.M. (2007) The oncogenic TLS-ERG fusion protein exerts different effects in hematopoietic cells and fibroblasts. (PubMed id 15988032) 9 Zou J....Yang L. (2005) Platelet function in sepsis. (PubMed id 15613012) 9 Yaguchi A....Pradier O. (2004) The potential effect of short-course high-dose steroid on the maturation and apoptosis of leukemic cells in a child with acute megakaryoblastic leukemia. (PubMed id 12854906) 9 Hicsonmez G....Gurgey A. (2003) A palmitylated peptide derived from the glycoprotein Ib beta cytoplasmic tail inhibits platelet activation. (PubMed id 14675101) 9 Martin K....Kenny D. (2003) Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene. (PubMed id 12945881) 9 Watanabe R....Ikeda Y. (2003) A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies. (PubMed id 12529755) 9 Hillmann A....Kenny D. (2002) 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. (PubMed id 11816714) 9 Kurokawa Y....Koike K. (2001) Single amino acid substitution in human platelet glycoprotein Ibbeta is responsible for the formation of the platelet-specific alloantigen Iy(a). (PubMed id 10688847) 9 Sachs U.J....Santoso S. (2000) Ultrastructural characterization of maturation, plate let release, and senescence of human cultured megakaryocytes. (PubMed id 10603452) 9 Falcieri E....Zauli G. (2000) Regulation of megakaryocytopoiesis in an in vitro str oma model: preferential adhesion of megakaryocytic progenitors and subsequent i nhibition of maturation. (PubMed id 10781898) 9 Zweegman S....DrAoger A.M. (2000) Glycoprotein V-deficient platelets have undiminished thrombin responsiveness and Do not exhibit a Bernard-Soulier phenotype. (PubMed id 10590056) 9 Kahn M.L....Coughlin S.R. (1999) Glycoprotein (GP) Ib-IX-transfected cells roll on a von Willebrand factor matrix under flow. Importance of the GPib/actin-binding protein (ABP-280) interaction in maintaining adhesion under high shear. (PubMed id 10037692) 9 Cranmer S.L....Jackson S.P. (1999) The glycoprotein Ib/IX complex regulates cell proliferation. (PubMed id 10361123) 9 Feng S....Kroll M.H. (1999) Inhibition of erythroid differentiation and induction of megakaryocytic differentiation by thrombopoietin are regulated by two different mechanisms in TPO-dependent UT-7/c-mpl and TF-1/c-mpl cell lines. (PubMed id 9737683) 9 Goncalves F....Dumenil D. (1998) Survival of fresh human platelets in a rabbit model a s traced by flow cytometry. (PubMed id 9661688) 9 Rothwell S.W....Krishnamurti C. (1998) Genetic polymorphism in human platelet glycoprotein GP Ib/IX/V complex is enriched in GP V (CD42d). (PubMed id 9802603) 9 Koskela S....Partanen J. (1998) Fatty acid acylation of platelet proteins. (PubMed id 9250606) 9 Van Cott E.M....Laposata M. (1997) Characterization of the gene encoding mouse platelet glycoprotien Ib beta. (PubMed id 9259114) 9 Kitaguchi T....Ikeda Y. (1997) A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome. (PubMed id 9326229) 9 Kenny D....Montgomery R.R. (1997) Thrombin interaction with platelet membrane glycoprotein Ib. (PubMed id 8807712) 9 Jandrot-Perrus M....Guillin M.C. (1996) Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. (PubMed id 8703016) 9 Ludlow L.B....Konkle B.A. (1996) Participation of alpha IIb beta 3 in platelet microparticle generation by collagen plus thrombin. (PubMed id 8698276) 9 Nomura S....Fukuhara S. (1996) Enhanced botrocetin-induced type IIB von Willebrand factor binding to platelet glycoprotein Ib initiates hyperagglutination of normal platelets. (PubMed id 2316510) 9 Nishio K....Zimmerman T.S. (1990)
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