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GP1BA Gene(Protein Coding)

Glycoprotein Ib Platelet Subunit Alpha

GCID:
GC17P004932
GIFtS:
52
Genes Participants
UDN Logo

Aliases for GP1BA Gene

Aliases for GP1BA Gene

  • Glycoprotein Ib Platelet Subunit Alpha 2 3
  • Glycoprotein Ib (Platelet), Alpha Polypeptide 2 3
  • Glycoprotein Ib Platelet Alpha Subunit 3 5
  • Platelet Glycoprotein Ib Alpha Chain 2 3
  • Antigen CD42b-Alpha 3 4
  • GP-Ib Alpha 3 4
  • GPIbA 3 4
  • Platelet Membrane Glycoprotein 1b-Alpha Subunit 3
  • Mutant Platelet Membrane Glycoprotein Ib-Alpha 3
  • Platelet Membrane Glycoprotein Ib-Alpha 3
  • 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 Subunit Alpha) is a Protein Coding gene. Diseases associated with GP1BA include Pseudo-Von Willebrand Disease and Bernard-Soulier Syndrome, Type A2, Autosomal Dominant. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Integrin alphaIIb beta3 signaling. Gene Ontology (GO) annotations related to this gene include thrombin-activated receptor activity. An important paralog of this gene is FLRT1.

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

Additional gene information for GP1BA Gene

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

Genomics for GP1BA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for GP1BA Gene

Promoters and enhancers for GP1BA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J004932 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 650.7 0.0 -38 0.3 EED IKZF1 EBF1 MEF2B RUNX3 SPI1 RELA GP1BA CHRNE
GH17J004898 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.2 -31.0 -30962 6 RB1 ZSCAN4 ARID4B SIN3A BATF ZNF2 RAD21 GLIS2 EGR1 SCRT2 CHRNE C17orf107 GP1BA ENSG00000262165 ZFP3 LOC101928000 GC17M004898 GC17M004900
GH17J004852 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 6.9 -78.6 -78640 3.3 NFIB ZIC2 ZFHX2 POLR2A EED ZNF547 PRDM10 FOSL2 RUNX3 ZBTB20 CHRNE MINK1 PLD2 CXCL16 ZMYND15 RNF167 SLC25A11 SPAG7 ENO3 PFN1
GH17J005254 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.9 +323.2 323159 1.8 PKNOX1 EBF1 CTBP1 GATA3 POLR2A RCOR1 SMARCE1 ZNF687 MEF2B ELF1 GC17P005253 LOC101928000 RABEP1 NUP88 RPAIN SCIMP GP1BA NLRP1 GC17P005260
GH17J005044 Enhancer 0.6 ENCODE 7.7 +113.0 112978 2.3 BCOR ESRRA FOXA2 NFIB BATF NFIL3 NFIC EGR1 ZNF184 ZFP36 SPAG7 CAMTA2 ENO3 ENSG00000234203 INCA1 KIF1C PFN1 ZFP3 USP6 GP1BA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GP1BA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GP1BA gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • NF-kappaB1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4

Genomic Locations for GP1BA Gene

Genomic Locations for GP1BA Gene
chr17:4,932,275-4,935,030
(GRCh38/hg38)
Size:
2,756 bases
Orientation:
Plus strand
chr17:4,835,592-4,838,325
(GRCh37/hg19)
Size:
2,734 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 Structure • Gene Density

RefSeq DNA sequence for GP1BA Gene

Proteins for GP1BA Gene

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  • 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:
    • 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.
    • Binding sites for vWF and thrombin (the latter site with unknown function) are in the N-terminal part of the molecule.

    Three dimensional structures from OCA and Proteopedia for GP1BA Gene

neXtProt entry for GP1BA Gene

Protein Expression for GP1BA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Thr308, Asn175, and Asn37
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GP1BA_HUMAN (176)

Other Protein References for GP1BA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GP1BA Gene

Domains & Families for GP1BA Gene

Gene Families for GP1BA Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for GP1BA Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GP1BA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for GP1BA Gene

Function for GP1BA Gene

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Molecular function for GP1BA Gene

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.
GENATLAS Biochemistry:
platelet glycoprotein Ib,alpha (143kDa),linked to GP1BB through disulfide bonds in von Willebrand receptor

Phenotypes From GWAS Catalog for GP1BA Gene

Gene Ontology (GO) - Molecular Function for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004860 protein kinase inhibitor activity IBA --
GO:0005515 protein binding IEA,IPI 7721887
GO:0015057 thrombin-activated 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

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

CRISPR Products

miRNA for GP1BA Gene

miRTarBase miRNAs that target GP1BA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GP1BA

Clone Products

  • Addgene plasmids for GP1BA

No data available for Enzyme Numbers (IUBMB) , 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
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 GP1BA gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
cytosol 2
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 3353370
GO:0009986 cell surface HDA 23382103
GO:0016020 membrane IEA,IDA 15297306
genes like me logo Genes that share ontologies with GP1BA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GP1BA Gene

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:0000902 cell morphogenesis IEA --
GO:0006469 negative regulation of protein kinase activity IBA --
GO:0007155 cell adhesion IDA 9410473
GO:0007166 cell surface receptor signaling pathway TAS 3353370
GO:0007596 blood coagulation TAS,IMP --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker 1232
Egaptivon pegol Investigational Pharma Target 0
liposomal prostaglandin E1 Investigational Pharma Target 0

(14) 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

Products:

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  2. miRNA
  3. Inhibitory RNA
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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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GP1BA

Clone Products

  • Addgene plasmids for GP1BA

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GP1BA Gene

mRNA expression in normal human tissues for GP1BA Gene
mRNA expression by GTEx for GP1BA GenemRNA expression by BioGPS 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 and MOPED for GP1BA Gene



NURSA nuclear receptor signaling pathways regulating expression of GP1BA Gene:

GP1BA

SOURCE GeneReport for Unigene cluster for GP1BA Gene:

Hs.1472

Evidence on tissue expression from TISSUES for GP1BA Gene

  • Blood(4.7)
  • Heart(4.4)
  • Lung(4.1)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GP1BA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • reproductive
Regions:
Head and neck:
  • face
  • head
  • mouth
  • nose
Abdomen:
  • spleen
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with GP1BA: view

No data available for Protein tissue co-expression partners and 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 34 33
  • 98.58 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gp1ba 16 34 33
  • 72.04 (n)
rat
(Rattus norvegicus)
 Mammalia Gp1ba 33
  • 67.84 (n)
cow
(Bos Taurus)
 Mammalia GP1BA 34
  • 54 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia GP1BA 34
  • 45 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves -- 34
  • 36 (a)
 OneToMany
-- 34
  • 27 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii CU896563.2 34
  • 17 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.4339 34
  • 17 (a)
 OneToOne
Species where no ortholog for GP1BA 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GP1BA: view image

Paralogs for GP1BA Gene

Paralogs for GP1BA Gene

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

Variants for GP1BA Gene

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  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for GP1BA Gene

GP1BA_HUMAN-P07359
Position 161 is associated with platelet-specific alloantigen Siba (PubMed:1586750). Siba(-) has Thr-161 and Siba(+) has Met-161 (PubMed:1586750). Siba is involved in neonatal alloimmune thrombocytopenia (NATP) (PubMed:1586750, PubMed:7632942).
GP1BA_HUMAN-P07359
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 Variation AA Info Type
rs121908061 pathogenic, Bernard-Soulier syndrome, type A1 4,933,681(+) G/A coding_sequence_variant, stop_gained
rs121908062 pathogenic, Pseudo von Willebrand disease, Pseudo-von Willebrand disease (VWDP) [MIM:177820] 4,933,350(+) G/T coding_sequence_variant, missense_variant
rs121908063 pathogenic, Bernard-Soulier syndrome, type A2, autosomal dominant, Bernard-Soulier syndrome (BSS) [MIM:231200] 4,932,821(+) C/T coding_sequence_variant, missense_variant
rs121908064 pathogenic, Pseudo von Willebrand disease, Pseudo-von Willebrand disease (VWDP) [MIM:177820] 4,933,367(+) A/G coding_sequence_variant, missense_variant
rs121908065 pathogenic, Bernard-Soulier syndrome, type A1, Bernard-Soulier syndrome, type A2, autosomal dominant, Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670], Bernard-Soulier syndrome (BSS) [MIM:231200] 4,933,119(+) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv3088n100 CNV gain 25217958
esv2715560 CNV deletion 23290073
esv3572365 CNV gain 25503493
nsv1149679 CNV deletion 26484159
nsv574273 CNV gain 21841781
nsv574275 CNV gain 21841781
nsv819218 CNV loss 19587683
nsv833347 CNV loss 17160897
nsv833349 CNV loss 17160897
nsv833350 CNV loss 17160897

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)

Additional Variant Information for GP1BA Gene

Human Gene Mutation Database (HGMD)
GP1BA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GP1BA

SNP Genotyping and Copy Number Assay Products

Disorders for GP1BA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pseudo-von willebrand disease
  • vwdp
bernard-soulier syndrome, type a2, autosomal dominant
  • bssa2
bernard-soulier syndrome
  • bss
nonarteritic anterior ischemic optic neuropathy
  • nonarteritic anterior ischemic optic neuropathy, susceptibility to
ischemic optic neuropathy
  • optic neuropathy, ischemic
- 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
  • 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.

Genatlas disease for GP1BA Gene

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

Additional Disease Information for GP1BA

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

Publications for GP1BA Gene

  1. Variable number of tandem repeats polymorphism of platelet glycoprotein Ib alpha in Chinese people and CC genotype with aspirin sensitivity in patients with cerebral infarction. (PMID: 19250145) Jin YY … Xin XM (Journal of clinical pharmacy and therapeutics 2009) 3 22 44 58
  2. Genetics of platelet reactivity in normal, healthy individuals. (PMID: 19740098) Kunicki TJ … Nugent DJ (Journal of thrombosis and haemostasis : JTH 2009) 3 22 44 58
  3. 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. (PMID: 14521605) Matsubara Y … Ikeda Y (Journal of thrombosis and haemostasis : JTH 2003) 3 4 22 58
  4. Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation. (PMID: 14639140) Donahue BS … George AL (Anesthesiology 2003) 3 22 44 58
  5. Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha. (PMID: 11858495) Whisstock JC … Berndt MC (Thrombosis and haemostasis 2002) 3 4 22 58

Products for GP1BA Gene

  • Addgene plasmids for GP1BA

Sources for GP1BA Gene

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