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Aliases for GP1BB Gene

Aliases for GP1BB Gene

  • Glycoprotein Ib Platelet Beta Subunit 2 3 5
  • Glycoprotein Ib (Platelet), Beta Polypeptide 2 3
  • Platelet Glycoprotein Ib Beta Chain 2 3
  • 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
  • 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 Velocardiofacial Syndrome. Among its related pathways are Integrin alphaIIb beta3 signaling and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F019691 1.3 Ensembl ENCODE 13.2 -31.1 -31139 1.5 HDGF ATF1 PKNOX1 ARNT CREB3L1 ZNF2 GLIS2 KLF13 SP3 JUNB SEPT5 GP1BB ENSG00000225007
GH22F019642 1.3 Ensembl ENCODE 12.2 -78.8 -78809 2.4 HDGF PKNOX1 ATF1 ARNT CREB3L1 SIN3A ELK1 GATA2 KLF13 KDM4B LINC01311 SEPT5 GP1BB LOC100129254 LOC100420103
GH22F019772 1.3 Ensembl ENCODE 12 +50.3 50285 1.5 HDGF ATF1 PKNOX1 ARNT ZNF121 GATA2 ZNF143 KLF7 KDM4B NCOA1 GP1BB SEPT5 ABHD17AP4 RPL7AP70 RPL8P5 TBX1
GH22F019687 1.1 Ensembl ENCODE 13.2 -34.6 -34645 2.2 CTCF KLF1 ATF1 LEF1 ESRRA TBL1XR1 MAX UBTF ZIC2 CTBP1 SEPT5 GP1BB ENSG00000225007
GH22F019744 1.1 Ensembl ENCODE 13 +22.6 22647 2.5 CTCF PKNOX1 TBL1XR1 KLF17 UBTF NFXL1 ZIC2 GLIS2 ZFHX2 PATZ1 GP1BB SEPT5 TBX1 LOC105372861
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001841933 1055 401 ATF1 CBX3 TBL1XR1 NFRKB BCLAF1 HCFC1 REST HDAC8 GATA1 ZNF24

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

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.

Gene Ontology (GO) - Molecular Function for GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity NAS 3353370
GO:0005515 protein binding IPI 4044584
GO:0042802 identical protein binding IPI 18674540
genes like me logo Genes that share ontologies with GP1BB: view

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GP1BB

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GP1BB gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 3353370
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GP1BB: view

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:0007166 cell surface receptor signaling pathway NAS 3353370
GO:0007596 blood coagulation IEA,TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0007599 hemostasis IEA --
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GP1BB

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GP1BB Gene



Protein tissue co-expression partners for GP1BB Gene

NURSA nuclear receptor signaling pathways regulating expression of GP1BB Gene:

GP1BB

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

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
chimpanzee
(Pan troglodytes)
Mammalia GP1BB 35
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gp1bb 34 16 35
  • 87.61 (n)
dog
(Canis familiaris)
Mammalia GP1BB 34 35
  • 87.16 (n)
rat
(Rattus norvegicus)
Mammalia Gp1bb 34
  • 84.68 (n)
cow
(Bos Taurus)
Mammalia GP1BB 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GP1BB 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GP1BB 35
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gp1bb 34
  • 48.89 (n)
zebrafish
(Danio rerio)
Actinopterygii gp1bb 34 35
  • 58.4 (n)
Species where no ortholog for GP1BB was found in the sources mined by GeneCards:
  • 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
rs121909750 Pathogenic, Bernard-Soulier syndrome (BSS) [MIM:231200] 19,724,181(+) GCCCT(A/G/T)CCGCG nc-transcript-variant, reference, missense
rs121909751 Pathogenic, Bernard-Soulier syndrome (BSS) [MIM:231200] 19,724,240(+) ATCTG(C/G)CCGAG nc-transcript-variant, reference, missense
rs121909752 Pathogenic 19,723,980(+) GACTT(A/G)GGCCT nc-transcript-variant, reference, stop-gained
rs730882059 Pathogenic 19,723,410(+) GCTAT(C/G)TGCCG nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB
rs587783648 Likely pathogenic 19,724,183(+) CCTAC(C/T)GCGAC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv953023 CNV deletion 24416366
nsv834129 CNV loss 17160897
nsv834128 CNV loss 17160897
nsv828943 CNV loss 20364138
nsv828939 CNV loss 20364138
nsv828938 CNV gain 20364138
nsv588216 CNV gain 21841781
nsv517478 CNV loss 19592680
esv3893434 CNV gain 25118596
esv3647279 CNV gain 21293372
esv3575418 CNV gain 25503493
esv2751940 CNV gain 17911159
esv22571 CNV loss 19812545
dgv725n67 CNV gain 20364138

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
velocardiofacial syndrome
  • cayler cardiofacial syndrome
thrombocytopenia
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. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PMID: 15477207) Noris P. … Balduini C.L. (Haematologica 2004) 3 22 46 64
  2. Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. (PMID: 9116284) Kunishima S. … Naoe T. (Blood 1997) 3 4 22 64
  3. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. (PMID: 8021244) Yagi M. … Roth G.J. (J. Biol. Chem. 1994) 3 4 22 64
  4. 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 22 64
  5. Quaternary organization of GPIb-IX complex and insights into Bernard- Soulier syndrome revealed by the structures of GPIbbeta and a GPIbbeta/GPIX chimera. (PMID: 21908432) McEwan P.A. … Emsley J. (Blood 2011) 3 4 64

Products for GP1BB Gene

Sources for GP1BB Gene

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