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Aliases for GP1BB Gene

Aliases for GP1BB Gene

  • Glycoprotein Ib Platelet Beta Subunit 2 3
  • Glycoprotein Ib (Platelet), Beta Polypeptide 2 3 5
  • Antigen CD42b-Beta 3 4
  • GP-Ib Beta 3 4
  • GPIBB 3 4
  • Nuclear Localization Signal Deleted In Velocardiofacial Syndrome 3
  • Truncated Platelet Membrane Glycoprotein Ib Beta 3
  • Platelet Membrane Glycoprotein Ib Beta 3
  • Platelet Glycoprotein Ib Beta Chain 2
  • CD42c Antigen 4
  • GPIb-Beta 4
  • GPIbbeta 3
  • BDPLT1 3
  • CD42C 3
  • BS 3

External Ids for GP1BB Gene

Previous GeneCards Identifiers for GP1BB Gene

  • GC22P016643
  • GC22P018085
  • GC22P003331

Summaries for GP1BB Gene

Entrez Gene Summary for GP1BB Gene

  • Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for GP1BB Gene

GP1BB (Glycoprotein Ib Platelet Beta Subunit) is a Protein Coding gene. Diseases associated with GP1BB include Bernard-Soulier Syndrome, Type C and Bloom Syndrome. Among its related pathways are Platelet activation and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is GP9.

UniProtKB/Swiss-Prot for GP1BB Gene

  • Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.

Gene Wiki entry for GP1BB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GP1BB Gene

Genomics for GP1BB Gene

Regulatory Elements for GP1BB Gene

Enhancers for GP1BB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GP1BB on UCSC Golden Path with GeneCards custom track

Promoters for GP1BB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GP1BB on UCSC Golden Path with GeneCards custom track

Genomic Location for GP1BB Gene

Chromosome:
22
Start:
19,722,945 bp from pter
End:
19,724,774 bp from pter
Size:
1,830 bases
Orientation:
Plus strand

Genomic View for GP1BB Gene

Genes around GP1BB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GP1BB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GP1BB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GP1BB Gene

Proteins for GP1BB Gene

  • Protein details for GP1BB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13224-GP1BB_HUMAN
    Recommended name:
    Platelet glycoprotein Ib beta chain
    Protein Accession:
    P13224
    Secondary Accessions:
    • Q14422
    • Q8NG40

    Protein attributes for GP1BB Gene

    Size:
    206 amino acids
    Molecular mass:
    21718 Da
    Quaternary structure:
    • Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage.
    Miscellaneous:
    • Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein.

    Three dimensional structures from OCA and Proteopedia for GP1BB Gene

    Alternative splice isoforms for GP1BB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GP1BB Gene

Proteomics data for GP1BB Gene at MOPED

Post-translational modifications for GP1BB Gene

  • Glycosylation at Asn 66 and Thr 83
  • Modification sites at PhosphoSitePlus

Other Protein References for GP1BB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GP1BB Gene

Domains & Families for GP1BB Gene

Gene Families for GP1BB Gene

Suggested Antigen Peptide Sequences for GP1BB Gene

Graphical View of Domain Structure for InterPro Entry

P13224

UniProtKB/Swiss-Prot:

GP1BB_HUMAN :
  • Contains 1 LRRCT domain.
  • Contains 1 LRR (leucine-rich) repeat.
Domain:
  • Contains 1 LRRCT domain.
  • Contains 1 LRRNT domain.
Similarity:
  • Contains 1 LRR (leucine-rich) repeat.
genes like me logo Genes that share domains with GP1BB: view

Function for GP1BB Gene

Molecular function for GP1BB Gene

GENATLAS Biochemistry:
platelet glycoprotein Ib,beta (22kDa),overlapping the 3utr of PNUTL1 in the same orientation,linked to GP1BA through disulfide bonds in von Willebrand receptor
UniProtKB/Swiss-Prot Function:
Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.

Phenotypes for GP1BB Gene

genes like me logo Genes that share phenotypes with GP1BB: view

Human Phenotype Ontology for GP1BB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GP1BB Gene

MGI Knock Outs for GP1BB:

Animal Model Products

miRNA for GP1BB Gene

miRTarBase miRNAs that target GP1BB

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GP1BB Gene

Localization for GP1BB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GP1BB Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GP1BB Gene COMPARTMENTS Subcellular localization image for GP1BB gene
Compartment Confidence
plasma membrane 5
extracellular 2
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for GP1BB Gene

Pathways & Interactions for GP1BB Gene

genes like me logo Genes that share pathways with GP1BB: view

Gene Ontology (GO) - Biological Process for GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with GP1BB: view

No data available for SIGNOR curated interactions for GP1BB Gene

Drugs & Compounds for GP1BB Gene

(1) Drugs for GP1BB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for GP1BB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GP1BB: view

Transcripts for GP1BB Gene

mRNA/cDNA for GP1BB Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(453) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GP1BB Gene

Glycoprotein Ib (platelet), beta polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GP1BB Gene

No ASD Table

Relevant External Links for GP1BB Gene

GeneLoc Exon Structure for
GP1BB
ECgene alternative splicing isoforms for
GP1BB

Expression for GP1BB Gene

mRNA expression in normal human tissues for GP1BB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GP1BB Gene

This gene is overexpressed in Platelet (41.0), Peripheral blood mononuclear cells (15.4), and Neutrophil (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GP1BB Gene



SOURCE GeneReport for Unigene cluster for GP1BB Gene Hs.283743

mRNA Expression by UniProt/SwissProt for GP1BB Gene

P13224-GP1BB_HUMAN
Tissue specificity: Expressed in heart and brain.
genes like me logo Genes that share expression patterns with GP1BB: view

Protein tissue co-expression partners for GP1BB Gene

Primer Products

No data available for mRNA differential expression in normal tissues for GP1BB Gene

Orthologs for GP1BB Gene

This gene was present in the common ancestor of chordates.

Orthologs for GP1BB Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia GP1BB 35
  • 87.16 (n)
  • 85.81 (a)
GP1BB 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gp1bb 35
  • 87.61 (n)
  • 93.24 (a)
Gp1bb 16
Gp1bb 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gp1bb 35
  • 84.68 (n)
  • 87.84 (a)
cow
(Bos Taurus)
Mammalia GP1BB 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GP1BB 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves GP1BB 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GP1BB 36
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gp1bb 35
  • 48.89 (n)
  • 45.83 (a)
zebrafish
(Danio rerio)
Actinopterygii gp1bb 35
  • 58.4 (n)
  • 52.14 (a)
gp1bb 36
  • 40 (a)
OneToOne
Species with no ortholog for GP1BB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GP1BB Gene

ENSEMBL:
Gene Tree for GP1BB (if available)
TreeFam:
Gene Tree for GP1BB (if available)

Paralogs for GP1BB Gene

Paralogs for GP1BB Gene

(1) SIMAP similar genes for GP1BB Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GP1BB: view

Variants for GP1BB Gene

Sequence variations from dbSNP and Humsavar for GP1BB Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_025000 Bernard-Soulier syndrome (BSS)
VAR_025001 Bernard-Soulier syndrome (BSS)

Structural Variations from Database of Genomic Variants (DGV) for GP1BB Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
esv2751940 CNV Gain 17911159
nsv834128 CNV Loss 17160897
nsv914279 CNV Loss 21882294
nsv914280 CNV Loss 21882294
dgv4841n71 CNV Loss 21882294
nsv828938 CNV Gain 20364138
nsv828939 CNV Loss 20364138
dgv4842n71 CNV Loss 21882294
nsv914283 CNV Loss 21882294
nsv517478 CNV Loss 19592680
nsv834129 CNV Loss 17160897
nsv914288 CNV Loss 21882294
dgv725n67 CNV Gain 20364138
nsv828943 CNV Loss 20364138
esv22571 CNV Loss 19812545

Variation tolerance for GP1BB Gene

Gene Damage Index Score: 1.03; 21.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GP1BB Gene

Human Gene Mutation Database (HGMD)
GP1BB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GP1BB Gene

Disorders for GP1BB Gene

MalaCards: The human disease database

(7) MalaCards diseases for GP1BB Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bernard-soulier syndrome, type c
  • bernard-soulier syndrome, type a1
bloom syndrome
  • bloom-torre-machacek syndrome
velocardiofacial syndrome
  • cayler cardiofacial syndrome
fetal and neonatal alloimmune thrombocytopenia
  • nait
blood platelet disease
  • platelet disorder
- elite association - COSMIC cancer census association via MalaCards
Search GP1BB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GP1BB_HUMAN
  • Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. {ECO:0000269 PubMed:9116284}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GP1BB Gene

Bernard-Soulier syndrome

Relevant External Links for GP1BB

Genetic Association Database (GAD)
GP1BB
Human Genome Epidemiology (HuGE) Navigator
GP1BB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GP1BB
genes like me logo Genes that share disorders with GP1BB: view

Publications for GP1BB Gene

  1. Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. (PMID: 8200976) Kelly M.D. … Konkle B.A. (J. Clin. Invest. 1994) 3 4 23 67
  2. Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression. (PMID: 18825380) Hadjkacem B. … Gargouri A. (Ann. Hematol. 2009) 3 23
  3. Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. (PMID: 18064328) Liang H.P. … Ward C.M. (Thromb. Haemost. 2007) 3 23
  4. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PMID: 15477207) Noris P. … Balduini C.L. (Haematologica 2004) 3 23
  5. Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes. (PMID: 12958615) GonzA!lez-ManchA^n C. … Parrilla R. (Thromb. Haemost. 2003) 3 23

Products for GP1BB Gene

Sources for GP1BB Gene

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