GP1BA Gene
protein-coding GIFtS : 65
GCID: GC17 P004835
glycoprotein Ib (platelet), alpha polypeptide (Previous symbol: GP1B )
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Aliasesfor GP1BA 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 Ib (Platelet), Alpha Polypeptide 1 2 CD42B2 GP1B1 2 CD42b-Alpha1 Antigen CD42b-Alpha2 3 DBPLT32 GPIbA2 3 VWDP2 GP-Ib Alpha2 3 Platelet Glycoprotein Ib Alpha Chain2 CD42b1 Platelet Membrane Glycoprotein 1b-Alpha Subunit2 BDPLT12 GPIb-Alpha1 BDPLT32 CD42b Antigen3 BSS2 Glycoprotein Ibalpha3
Export aliases for GP1BA gene to outside databases Previous GC identifers: GC17P005255 GC17P005173 GC17P004780 GC17P005036 GC17P004776
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Summariesfor GP1BA 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 GP1BA : Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes and platelet-type von Willebrand disease. (provided by RefSeq, Mar 2010) UniProtKB/Swiss-Prot: GP1BA_HUMAN, P07359 Function : GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding tothe A1 domain of vWF, which is already bound to the subendothelium Gene Wiki entry for GP1BA
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Genomic Viewsfor GP1BA 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_000017.10 NC_018928.1 NT_010718.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the GP1BA gene promoter: E2F-4 E2F-3a AP-1 ATF-2 E2F-2 E2F E2F-1 c-Jun NF-kappaB1 Other transcription factors Search SABiosciences Chromatin IP Primers for GP1BA Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GP1BA
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 17pter-p12 Ensembl cytogenetic band: 17p13.2 HGNC cytogenetic band: 17pter-p12 GP1BA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17P004835: view genomic region
(about GC identifiers )
Start:
4,835,592 bp from pter
End:
4,838,325 bp from pter
Size:
2,734 bases
Orientation:
plus strand
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Proteinsfor GP1BA 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: GP1BA_HUMAN, P07359 (See
protein sequence )Recommended Name: Platelet glycoprotein Ib alpha chain precursor Size : 626 amino acids; 68955 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. Interacts with FLNB
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
Miscellaneous : Binding sites for vWF and thrombin (the latter site with unknown function) are in the N-terminal part ofthe molecule
6/13 PDB 3D structures from and Proteopedia for GP1BA (see all 13 ):1GWB (3D)
  1K13 (3D)
  1M0Z (3D)
  1M10 (3D)
  1OOK (3D)
  1P8V (3D)
 
Secondary accessions : Q14441 Q16469 Q8N1F3 Q8NG39 Q9HDC7 Q9UEK1 Q9UQS4Explore the universe of human proteins at neXtProt for GP1BA: NX_P07359 Post-translational modifications:
Glycocalicin, which is approximately coextensive with the extracellular part of the molecule, is cleaved off by calpain during platelet lysis1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P07359 GP1BA Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000164.5 ENSEMBL proteins: ENSP00000329380 Reactome Protein details: P07359 Human Recombinant Protein Products: Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) : About this table
GP1BA for ontologies About GeneDecksing GP1BA Antibody Products: Assay Products for GP1BA:
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Protein
Domains / Familiesfor GP1BA gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
GP1BA for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P07359 ProtoNet protein and cluster: P07359
2 Blocks protein families : IPB000483 Cysteine-rich flanking region IPB001611 Leucine-rich repeat signature UniProtKB/Swiss-Prot: GP1BA_HUMAN, P07359 Similarity : Contains 7 LRR (leucine-rich) repeatsSimilarity : Contains 1 LRRCT domainSimilarity : Contains 1 LRRNT domain
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Functionfor GP1BA 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: GP1BA_HUMAN, P07359 Function : GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding tothe A1 domain of vWF, which is already bound to the subendothelium
Genatlas biochemistry entry for GP1BA : platelet glycoprotein Ib,alpha (143kDa),linked to GP1BB through disulfide bonds in 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 GP1BA (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for GP1BA (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: GP1BA (NM_000173 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GP1BA Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GP1BA
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP1BA
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view) : About this table
GP1BA for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for GP1BA :Animal Models: Mouse knock-out Gp1ba tm1Ware for GP1BA 3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Gp1ba) :
GP1BA for phenotypes About GeneDecksing
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Pathways & Interactionsfor GP1BA 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 amb2 Integrin signaling 5 Hematopoietic cell lineage
Pathway sources See GeneCards unified pathways Show all pathways 1 R&D Systems Pathway for GP1BA 1 BioSystems Pathway for GP1BA 5/8
Reactome Pathways for GP1BA (see all 8 )2
Kegg Pathways (Kegg details for GP1BA) :
GP1BA for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GP1BA STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/31 Interacting proteins for GP1BA (P07359 1 , 2 , 3 ENSP00000329380 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 31 )Interactant Interaction Details GeneCard External ID(s) VWF P04275 1 , 2 , 3 , ENSP00000261405 4 EBI-297082,EBI-981819 MINT-17868 MINT-24838 I2D:
score=3 STRING: ENSP00000261405 YWHAB P31946 2 , 3 , ENSP00000300161 4 MINT-8009042 I2D:
score=1 STRING: ENSP00000300161 YWHAE P62258 2 , 3 , ENSP00000264335 4 MINT-8009049 I2D:
score=1 STRING: ENSP00000264335 YWHAG P61981 2 , 3 , ENSP00000306330 4 MINT-8009063 I2D:
score=1 STRING: ENSP00000306330 YWHAZ P63104 2 , 3 , ENSP00000309503 4 MINT-8009035 MINT-8009582 I2D:
score=1 STRING: ENSP00000309503
About this table Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10 ): About this table
GP1BA for ontologies About GeneDecksing
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Drugs & Compoundsfor GP1BA 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
GP1BA for compounds About GeneDecksing Browse Tocris compounds for GP1BA 1 DrugBank Compound for GP1BA About this table 10/40 Novoseek chemical compound relationships for GP1BA gene (see all 40 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
ristocetin
88.9
13
15630508 (3), 2012763 (1), 15809291 (1), 18339097 (1) (see all 9 )
fibrinogen
62.3
29
11024046 (3), 10706934 (2), 10579727 (2), 10660541 (2) (see all 19 )
lamifiban
59.8
2
12719784 (1), 14961148 (1)
adp
56
23
12008098 (2), 12871418 (2), 10213176 (1), 18499605 (1) (see all 14 )
hirudin
51
5
11024046 (1), 11307817 (1), 19591434 (1)
convulxin
46.6
17
12881531 (11), 15320694 (1)
desmopressin
33.5
1
10063996 (1)
cytochalasin d
32.1
3
15946527 (1), 11071645 (1), 11323024 (1)
kininogen
31.3
1
1318546 (1)
abciximab
24.5
3
16261288 (1), 18084279 (1)
Search CenterWatch for drugs/clinical trials and news about GP1BA
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Transcriptsfor GP1BA 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 GP1BA gene: NM_000173.5 Unigene Cluster for GP1BA:
Glycoprotein Ib (platelet), alpha polypeptide Hs.1472 [show with all ESTs ] Unigene Representative Sequence: NM_000173 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000329125 (uc021tnz.1 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for GP1BA (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for GP1BA (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: GP1BA (NM_000173 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GP1BA Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GP1BA
Additional cDNA sequence: BC027955.1 J02940.1
2 DOTS entries : DT.97818268 DT.103690
11 AceView cDNA sequences :
BX280733 BI767765 BE463855 BM971661 NM_000173 BC027955 AW950474 J02940 AW950469 AA333774 BF360177 GeneLoc Exon Structure
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Expression for GP1BA 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 GP1BA expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TGAAACCACA
About this image GP1BA expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See GP1BA Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for GP1BA SOURCE GeneReport for Unigene cluster: Hs.1472 SABiosciences Custom PCR Arrays for GP1BA Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for GP1BABrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat GP1BA QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat GP1BA QIAGEN QuantiFast Probe-based Assays in human , mouse , rat GP1BA In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP1BA
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Orthologsfor GP1BA 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 GP1BA gene from 2/8 species (see all 8 ) About this table
ENSEMBL Gene Tree for GP1BA (if available)TreeFam Gene Tree for GP1BA (if available)
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Paralogsfor GP1BA gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for GP1BA gene LRG1 2
GP1BA for paralogs About GeneDecksing
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Genomic Variantsfor GP1BA 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 UniProtKB/Swiss-Prot: GP1BA_HUMAN, P07359 Polymorphism : Position 161 is associated with platelet-specific alloantigen Siba. Siba(-) has Thr-161 and Siba(+) hasMet-161. Siba is involved in neonatal alloimmune thrombocytopenia (NATP) Polymorphism : Polymorphisms arise from a variable number of tandem 13-amino acid repeats of S-E-P-A-P-S-P-T-T-P-E-P-Tin the mucin-like macroglycopeptide (Pro/Thr-rich) domain. Allele D (shown here) contains one repeat starting at position 415, allele C contains two repeats, allele B contains three repeats and allele A contains four repeats. Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 17 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for GP1BA (4835592 - 4838325 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for GP1BA 2 CNVs : 4987 4986 1 Indel : 58796 Human Gene Mutation Database (HGMD) : GP1BA SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing GP1BA
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Disorders
/ Diseasesfor GP1BA 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
GP1BA for disorders About GeneDecksing OMIM gene information: 606672 OMIM disorders : 231200 177820 258660 153670 UniProtKB/Swiss-Prot: GP1BA_HUMAN, P07359
Genetic variations in GP1BA may be a cause of susceptibility to non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660]. NAION is an ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage Defects in GP1BA 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 Defects in GP1BA are the cause of Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670]. A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery Defects in GP1BA are the cause of pseudo-von Willebrand disease (VWDP) [MIM:177820]. A bleeding disorder is caused by an increased affinity of GP-Ib for soluble vWF resulting in impaired hemostatic function due to the removal of vWF from the circulation 20/70 diseases for GP1BA (see all 70 ): About MalaCards bernard-soulier syndrome von willebrand's disease bernard-soulier syndrome, benign autosomal dominant nonarteritic anterior ischemic optic neuropathy bernard-soulier syndrome type a thrombosis pseudo-von willebrand disease heparin-induced thrombocytopenia ischemic optic neuropathy glanzmann's thrombasthenia disseminated intravascular coagulation splenic sequestration patent ductus arteriosus abdominal aortic aneurysm thrombasthenia aortic aneurysm coronary heart disease myocardial infarction polycythemia vera acute chest syndrome 3 diseases from the University of Copenhagen DISEASES database for GP1BA :Bernard-Soulier syndrome Thrombocytopenia Von Willebrand's disease 10/35 Novoseek disease relationships for GP1BA gene (see all 35 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
bernard-soulier syndrome
96.4
30
11776304 (2), 19448529 (2), 18791947 (2), 7949089 (1) (see all 24 )
von willebrand disease, platelet-type
94.9
17
15705799 (2), 8950788 (1), 19951970 (1), 10713059 (1) (see all 16 )
platelet disorder
76.5
3
15550031 (1), 19067792 (1)
coagulopathy
73.6
9
12529755 (1), 15705799 (1), 15978109 (1), 19951970 (1) (see all 8 )
thrombocytopenia
69.2
23
8249898 (2), 8698134 (2), 9657431 (2), 10642807 (1) (see all 15 )
von willebrand disease
68.8
4
18805962 (1), 10063996 (1), 19085651 (1), 15039442 (1)
bleeding tendency
64.3
1
10235425 (1)
abnormal platelets
63.3
1
9226170 (1)
glanzmann thrombasthenia
57
1
12871468 (1)
macrocytosis
53.5
2
19067792 (1)
Genatlas disease: GP1BA Bernard-Soulier syndrome;giant platelet syndrome,including Bolzano type,associated in some cases with GP9 and GP5 deficiencies Genetic Association Database (GAD): GP1BA Human Genome Epidemiology (HuGE) Navigator: GP1BA (87 documents) Export disorders for GP1BA gene to outside databases
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Publicationsfor GP1BA 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 GP1BA gene, integrated from 9 sources (see all 536 ): (articles sorted by number of sources associating them with GP1BA) Utopia : connect your pdf to the dynamic world of online information
Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. (PubMed id 7819107) 1 , 2 , 4, 9 Simsek S.... Gallardo D. (1994) Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. (PubMed id 8384898) 1 , 2 , 4, 9 Russell S.D. and Roth G.J. (1993) Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation. (PubMed id 14639140) 1 , 4, 9 Donahue B.S....George A.L. (2003) 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) 1 , 2 , 9 de la Salle C.... Cazenave J.-P. (1995) 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. (PubMed id 1730088) 1 , 2 , 9 Miller J.L.... Cunningham D. (1992) 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. (PubMed id 7632942) 1 , 2 , 9 Ishida F....Furuta S. (1995) 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. (PubMed id 14521605) 1 , 2 , 9 Matsubara Y.... Ikeda Y. (2003) Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha. (PubMed id 11858495) 1 , 2 , 9 Whisstock J.C.... Berndt M.C. (2002) Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome. (PubMed id 11776304) 1 , 4, 9 Gonzalez-Manchon C....Parrilla R. (2001) Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. (PubMed id 10089893) 1 , 2 , 9 Koskela S.... Kekomaki R. (1999)
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External Searches for GP1BA gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing GP1BA gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing GP1BA gene
(According to HUGE )
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Specialized Databases showing GP1BA gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for GP1BA Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GP1BA SeattleSNPs http://pga.gs.washington.edu/data/gp1ba/
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About This Section Patent Information for GP1BA gene: Search GeneIP for patents involving GP1BA GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor GP1BA gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for GP1BA OriGene shRNA RFP for GP1BA OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for GP1BA OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for GP1BA OriGene Protein Over-expression Lysate for GP1BA Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for GP1BA OriGene 3'-UTR Clone for GP1BA OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for GP1BA OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for GP1BA Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for GP1BA OriGene Custom Protein Services for GP1BA OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GP1BA QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing GP1BA QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GP1BA QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat GP1BA QIAGEN QuantiFast Probe-based Assays in human , mouse , rat GP1BA QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat GP1BA
Search Tocris compounds for GP1BA
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP1BA
ThermoFisher Antibodies for GP1BA
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GP1BA
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