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Aliases for GP1BA Gene

Aliases for GP1BA Gene

  • Glycoprotein Ib Platelet Alpha Subunit 2 3
  • Glycoprotein Ib (Platelet), Alpha Polypeptide 2 3 5
  • Antigen CD42b-Alpha 3 4
  • GP-Ib Alpha 3 4
  • GPIbA 3 4
  • Platelet Membrane Glycoprotein 1b-Alpha Subunit 3
  • Platelet Glycoprotein Ib Alpha Chain 2
  • Glycoprotein Ibalpha 4
  • CD42b Antigen 4
  • CD42b-Alpha 3
  • GPIb-Alpha 4
  • GPIbalpha 3
  • BDPLT1 3
  • BDPLT3 3
  • DBPLT3 3
  • CD42B 3
  • VWDP 3
  • GP1B 3
  • BSS 3

External Ids for GP1BA Gene

Previous HGNC Symbols for GP1BA Gene

  • GP1B

Previous GeneCards Identifiers for GP1BA Gene

  • GC17P005255
  • GC17P005173
  • GC17P004780
  • GC17P005036
  • GC17P004776
  • GC17P004835

Summaries for GP1BA Gene

Entrez Gene Summary for GP1BA Gene

  • 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. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]

GeneCards Summary for GP1BA Gene

GP1BA (Glycoprotein Ib Platelet Alpha Subunit) is a Protein Coding gene. Diseases associated with GP1BA include von willebrand disease, platelet-type and bernard-soulier syndrome, type a2. Among its related pathways are ECM-receptor interaction and Hematopoietic cell lineage. GO annotations related to this gene include thrombin receptor activity.

UniProtKB/Swiss-Prot for GP1BA Gene

  • GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.

Gene Wiki entry for GP1BA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GP1BA Gene

Genomics for GP1BA Gene

Regulatory Elements for GP1BA Gene

Enhancers for GP1BA 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 GP1BA on UCSC Golden Path with GeneCards custom track

Genomic Location for GP1BA Gene

Chromosome:
17
Start:
4,932,275 bp from pter
End:
4,935,030 bp from pter
Size:
2,756 bases
Orientation:
Plus strand

Genomic View for GP1BA Gene

Genes around GP1BA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GP1BA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GP1BA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GP1BA Gene

Proteins for GP1BA Gene

  • Protein details for GP1BA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07359-GP1BA_HUMAN
    Recommended name:
    Platelet glycoprotein Ib alpha chain
    Protein Accession:
    P07359
    Secondary Accessions:
    • E7ES66
    • Q14441
    • Q16469
    • Q8N1F3
    • Q8NG39
    • Q9HDC7
    • Q9UEK1
    • Q9UQS4

    Protein attributes for GP1BA Gene

    Size:
    652 amino acids
    Molecular mass:
    71540 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 (PubMed:17008541, PubMed:2070794). Interacts with FLNB (PubMed:9651345). Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23) (PubMed:19828450).
    Miscellaneous:
    • Binding sites for vWF and thrombin (the latter site with unknown function) are in the N-terminal part of the molecule.
    • 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 GP1BA Gene

neXtProt entry for GP1BA Gene

Proteomics data for GP1BA Gene at MOPED

Post-translational modifications for GP1BA Gene

  • Glycocalicin, which is approximately coextensive with the extracellular part of the molecule, is cleaved off by calpain during platelet lysis.
  • Glycosylation at Asn 37, Asn 175, and Thr 308
  • Modification sites at PhosphoSitePlus

Other Protein References for GP1BA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for GP1BA (CD42b/GPIb alpha)

No data available for DME Specific Peptides for GP1BA Gene

Domains & Families for GP1BA Gene

Gene Families for GP1BA Gene

Graphical View of Domain Structure for InterPro Entry

P07359

UniProtKB/Swiss-Prot:

GP1BA_HUMAN :
  • Contains 1 LRRCT domain.
  • Contains 7 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRCT domain.
  • Contains 1 LRRNT domain.
Similarity:
  • Contains 7 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with GP1BA: view

Function for GP1BA Gene

Molecular function for GP1BA Gene

GENATLAS Biochemistry:
platelet glycoprotein Ib,alpha (143kDa),linked to GP1BB 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 the A1 domain of vWF, which is already bound to the subendothelium.

Gene Ontology (GO) - Molecular Function for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 7721887
genes like me logo Genes that share ontologies with GP1BA: view
genes like me logo Genes that share phenotypes with GP1BA: view

Human Phenotype Ontology for GP1BA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GP1BA Gene

MGI Knock Outs for GP1BA:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GP1BA Gene

Localization for GP1BA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GP1BA Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GP1BA Gene COMPARTMENTS Subcellular localization image for GP1BA gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 3
cytosol 2
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IDA 15297306
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GP1BA: view

Pathways & Interactions for GP1BA Gene

genes like me logo Genes that share pathways with GP1BA: view

Gene Ontology (GO) - Biological Process for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IBA --
GO:0007155 cell adhesion IDA 9410473
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 GP1BA: view

No data available for SIGNOR curated interactions for GP1BA Gene

Drugs & Compounds for GP1BA Gene

(26) Drugs for GP1BA Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker 1059
ARC1779 Investigational Pharma Target 0
liposomal prostaglandin E1 Investigational Pharma Target 0

(16) Additional Compounds for GP1BA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GP1BA: view

Transcripts for GP1BA Gene

mRNA/cDNA for GP1BA Gene

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

Unigene Clusters for GP1BA Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for GP1BA Gene

No ASD Table

Relevant External Links for GP1BA Gene

GeneLoc Exon Structure for
GP1BA
ECgene alternative splicing isoforms for
GP1BA

Expression for GP1BA Gene

mRNA expression in normal human tissues for GP1BA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GP1BA Gene

This gene is overexpressed in Whole Blood (x7.7).

Protein differential expression in normal tissues from HIPED for GP1BA Gene

This gene is overexpressed in Platelet (24.0), Serum (19.0), Monocytes (14.6), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GP1BA Gene



SOURCE GeneReport for Unigene cluster for GP1BA Gene Hs.1472

genes like me logo Genes that share expression patterns with GP1BA: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GP1BA Gene

Orthologs for GP1BA Gene

This gene was present in the common ancestor of chordates.

Orthologs for GP1BA Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Gp1ba 35
  • 72.04 (n)
  • 63.75 (a)
Gp1ba 16
Gp1ba 36
  • 53 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GP1BA 35
  • 98.58 (n)
  • 98.11 (a)
GP1BA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gp1ba 35
  • 67.84 (n)
  • 59.49 (a)
cow
(Bos Taurus)
Mammalia GP1BA 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GP1BA 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 27 (a)
OneToMany
-- 36
  • 36 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CU896563.2 36
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4339 36
  • 17 (a)
OneToOne
Species with no ortholog for GP1BA:
  • 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)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GP1BA Gene

ENSEMBL:
Gene Tree for GP1BA (if available)
TreeFam:
Gene Tree for GP1BA (if available)

Paralogs for GP1BA Gene

No data available for Paralogs for GP1BA Gene

Variants for GP1BA Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GP1BA Gene

P07359-GP1BA_HUMAN
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-T in the mucin-like macroglycopeptide (Pro/Thr-rich) domain (PubMed:1577776, PubMed:7632942). Allele D contains one repeat starting at position 415, allele C contains two repeats, allele B (shown here) contains three repeats and allele A contains four repeats (PubMed:1577776). Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy (PubMed:1577776).

Sequence variations from dbSNP and Humsavar for GP1BA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_005256 Bernard-Soulier syndrome (BSS)
rs6065 - 4,933,086(+) CCTGA(C/T)GCCCA reference, missense
VAR_005258 Bernard-Soulier syndrome A2, autosomal dominant (BSSA2)
VAR_005258 Bernard-Soulier syndrome (BSS)
VAR_005260 Bernard-Soulier syndrome (BSS)

Structural Variations from Database of Genomic Variants (DGV) for GP1BA Gene

Variant ID Type Subtype PubMed ID
nsv833347 CNV Loss 17160897
nsv833349 CNV Loss 17160897
nsv907619 CNV Loss 21882294
nsv907620 CNV Loss 21882294
nsv833350 CNV Loss 17160897
nsv907621 CNV Loss 21882294
nsv819218 CNV Loss 19587683
esv2715560 CNV Deletion 23290073

Variation tolerance for GP1BA Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GP1BA Gene

HapMap Linkage Disequilibrium report
GP1BA
Human Gene Mutation Database (HGMD)
GP1BA

Disorders for GP1BA Gene

MalaCards: The human disease database

(29) MalaCards diseases for GP1BA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
von willebrand disease, platelet-type
  • pseudo-von willebrand disease
bernard-soulier syndrome, type a2
  • bernard-soulier syndrome a2, autosomal dominant
bernard-soulier syndrome, type c
  • bernard-soulier syndrome, type a1
nonarteritic anterior ischemic optic neuropathy
  • ischemic optic neuropathy
bernard-soulier syndrome type a
  • deficiency of platelet glycoprotein 1b
- elite association - COSMIC cancer census association via MalaCards
Search GP1BA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GP1BA_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:10089893, ECO:0000269 PubMed:1730088, ECO:0000269 PubMed:7690774, ECO:0000269 PubMed:7819107, ECO:0000269 PubMed:7873390, ECO:0000269 PubMed:9639514}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11222377}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660]: 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. {ECO:0000269 PubMed:14711733}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Pseudo-von Willebrand disease (VWDP) [MIM:177820]: A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. {ECO:0000269 PubMed:14521605, ECO:0000269 PubMed:2052556, ECO:0000269 PubMed:8384898, ECO:0000269 PubMed:8486780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GP1BA Gene

Bernard-Soulier syndrome;giant platelet syndrome,including Bolzano type,associated in some cases with GP9 and GP5 deficiencies

Relevant External Links for GP1BA

Genetic Association Database (GAD)
GP1BA
Human Genome Epidemiology (HuGE) Navigator
GP1BA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GP1BA
genes like me logo Genes that share disorders with GP1BA: view

Publications for GP1BA Gene

  1. Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. (PMID: 7819107) Simsek S. … Gallardo D. (Br. J. Haematol. 1994) 3 4 48 67
  2. Widespread genomic instability mediated by a pathway involving glycoprotein Ib alpha and Aurora B kinase. (PMID: 20157117) Li Y. … Prochownik E.V. (J. Biol. Chem. 2010) 3 23
  3. GPIbalpha-selective activation of platelets induces platelet signaling events comparable to GPVI activation events. (PMID: 20367574) Gardiner E.E. … Berndt M.C. (Platelets 2010) 3 23
  4. Modularity of the oncoprotein-like properties of platelet glycoprotein Ibalpha. (PMID: 19017648) Li Y. … Prochownik E.V. (J. Biol. Chem. 2009) 3 23
  5. Prolonged inhibition of protein kinase A results in metalloproteinase-dependent platelet GPIbalpha shedding. (PMID: 19181367) Dai K. … Ruan C. (Thromb. Res. 2009) 3 23

Products for GP1BA Gene

Sources for GP1BA Gene

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