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FLASH GENE
Symbol GP1BB contributors: npt/mct - updated : 24-02-2010
HGNC name glycoprotein Ib (platelet), beta polypeptide
HGNC id 4440
Corresponding disease
GP1BB giant platelet disorder 1B
Location 22q11.21      Physical location : 19.711.065 - 19.712.297
Synonym name
  • CD42c antigen
  • glycoprotein Ib, beta polypeptide
  • nuclear localization signal deleted in velocardiofacial
  • syndrome
    Synonym symbol(s) CD42c, GPIb-beta, GPIbB
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping, gene in gene
    text overlapping the 3'utr of PNUTL1 in the same orientation
    STRUCTURE 2.35 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text a transcript of 3.5kb starting 5' up GPIBB it using its polyadenylation signal (see PNUTL1)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 958 - 206 - Kroll (1991)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas   highly
    Nervousbrain   highly
    Respiratorylung    
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Epithelialbarrier/lining   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • a N terminal signal peptide
  • one extracellular leucine-rich domain (LRD)
  • ectodomains of both GP1BB and GP9ubunits contain two leucine-rich repeats (LRR) and share high sequence similarity (Mo 2009)
  • a hydrophobic transmembrane domain near the C terminus
  • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Gp1bb
    homolog to C.elegans ZK994.4
    Homologene
    FAMILY leucine-rich glycoprotein family
    CATEGORY adhesion , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I membrane protein
    basic FUNCTION
  • involved in adhesion of a damaged vessel wall to the extra cellular matrix
  • constituting the receptor for von Willebrand factor (VWF) and mediating platelet adhesion in the arterial circulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
  • component of the GP1b complex (von Willebrand receptor) where it is linked to GP1BA through disulfide bonds and non covalently to GP5 and GP9
  • a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain
  • INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with GP9 (putative convex surface of the LRR domain in GP9 is sufficient, in the context of full-length subunit, to mediate its association with GP1BB) (Mo 2009)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GP1BB
    related resource Bernard-Soulier Syndrome database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS