Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GP1BA Gene

Aliases for GP1BA Gene

  • Glycoprotein Ib (Platelet), Alpha Polypeptide 2 3
  • Antigen CD42b-Alpha 3 4
  • GP-Ib Alpha 3 4
  • BDPLT1 3 6
  • BDPLT3 3 6
  • GPIbA 3 4
  • VWDP 3 6
  • BSS 3 6
  • Platelet Membrane Glycoprotein 1b-Alpha Subunit 3
  • Platelet Glycoprotein Ib Alpha Chain 3
  • Glycoprotein Ibalpha 4
  • CD42b Antigen 4
  • CD42b-Alpha 3
  • GPIb-Alpha 4
  • DBPLT3 3
  • CD42B 3
  • GP1B 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 Polypeptide) is a Protein Coding gene. Diseases associated with GP1BA include nonarteritic anterior ischemic optic neuropathy and bernard-soulier syndrome, type c. Among its related pathways are Hemostasis and amb2 Integrin signaling. 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

Genomic Location for GP1BA Gene

Start:
4,932,297 bp from pter
End:
4,935,030 bp from pter
Size:
2,734 bases
Orientation:
Plus strand

Genomic View for GP1BA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with FLNB.
    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 Asn37, Asn175, and Thr308
  • Modification sites at PhosphoSitePlus

Other Protein References for GP1BA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for GP1BA Gene

Domains for GP1BA Gene

Gene Families for GP1BA Gene

HGNC:
  • CD :CD molecules

Graphical View of Domain Structure for InterPro Entry

P07359

UniProtKB/Swiss-Prot:

GP1BA_HUMAN :
  • P07359
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 IPI 12183630
GO:0015057 thrombin receptor activity TAS 12855810
genes like me logo Genes that share ontologies with GP1BA: view
genes like me logo Genes that share phenotypes with GP1BA: view

Animal Models for GP1BA Gene

MGI Knock Outs for GP1BA:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GP1BA

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
plasma membrane 4
cytoskeleton 2
cytosol 2
extracellular 2
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 3353370
GO:0009986 cell surface IDA 23382103
GO:0016020 membrane IDA 15297306
GO:0031362 colocalizes_with anchored component of external side of plasma membrane IDA 19443707
genes like me logo Genes that share ontologies with GP1BA: view

Pathways for GP1BA Gene

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

Pathways by source for GP1BA Gene

Gene Ontology (GO) - Biological Process for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0007155 cell adhesion IDA 9410473
GO:0007166 cell surface receptor signaling pathway TAS 3353370
GO:0007596 blood coagulation TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
genes like me logo Genes that share ontologies with GP1BA: view

Compounds for GP1BA Gene

(1) Drugbank Compounds for GP1BA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-D-Mannose
3458-28-4 target

(40) Novoseek inferred chemical compound relationships for GP1BA Gene

Compound -log(P) Hits PubMed IDs
ristocetin 88.9 11
fibrinogen 62.3 24
lamifiban 59.8 2
adp 56 16
hirudin 51 3

(1) PharmGKB related drug/compound annotations for GP1BA Gene

Drug/compound Annotation
aspirin CA
genes like me logo Genes that share compounds with GP1BA: view

Transcripts for GP1BA Gene

mRNA/cDNA for GP1BA Gene

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

Unigene Clusters for GP1BA Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GP1BA

Primer Products

Flow Cytometry Products

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 (7.7).

Integrated Proteomics: protein expression 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 expressions with GP1BA: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia GP1BA 35
  • 98.58 (n)
  • 98.11 (a)
GP1BA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GP1BA 36
  • 54 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gp1ba 35
  • 72.04 (n)
  • 63.75 (a)
Gp1ba 16
Gp1ba 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GP1BA 36
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gp1ba 35
  • 67.84 (n)
  • 59.49 (a)
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. 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. Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy

Sequence variations from dbSNP and Humsavar for GP1BA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs6065 - 4,933,086(+) CCTGA(C/T)GCCCA reference, missense
rs6066 -- 4,933,378(-) GCCAC(A/G)TTAGA reference, synonymous-codon
rs6067 -- 4,933,678(+) CCTAG(A/G)TGGAC reference, synonymous-codon
rs6068 - 4,932,819(+) CACTC(A/G)CCTCA missense, reference
rs81663 -- 4,932,557(-) TCCCC(A/T)GGAAG intron-variant

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

Relevant External Links for GP1BA Gene

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

Disorders for GP1BA Gene

(4) OMIM Diseases for GP1BA Gene (606672)

UniProtKB/Swiss-Prot

GP1BA_HUMAN
  • 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.
  • 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.
  • 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.

(3) University of Copenhagen DISEASES for GP1BA Gene

(35) Novoseek inferred disease relationships for GP1BA Gene

Disease -log(P) Hits PubMed IDs
bernard-soulier syndrome 96.4 27
von willebrand disease, platelet-type 94.9 17
platelet disorder 76.5 2
coagulopathy 73.6 8
thrombocytopenia 69.2 18

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
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 23 48
  2. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. (PMID: 8384898) Russell S.D. … Roth G.J. (Blood 1993) 3 4 23 48
  3. Platelet membrane glycoprotein Ibalpha gene -5T/C Kozak sequence polymorphism as an independent risk factor for the occurrence of coronary thrombosis. (PMID: 11751671) Douglas H. … Tuddenham E.G. (Heart 2002) 3 23 48
  4. The Kozak sequence polymorphism of platelet glycoprotein Ibalpha and risk of nonfatal myocardial infarction and nonfatal stroke in young women. (PMID: 11159511) Frank M.B. … Siscovick D.S. (Blood 2001) 3 23 48
  5. Genetic linkage of Kozak sequence polymorphism of the platelet glycoprotein Ib alpha with human platelet antigen-2 and variable number of tandem repeats polymorphism, and its relationship with coronary artery disease. (PMID: 11167769) Ishida F. … Kiyosawa K. (Br. J. Haematol. 2000) 3 23 48

Products for GP1BA Gene

  • Addgene plasmids for GP1BA

Sources for GP1BA Gene

Back to Top

Content