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FLASH GENE
Symbol GP1BA contributors: npt/mct - updated : 24-02-2010
HGNC name glycoprotein Ib (platelet), alpha polypeptide
HGNC id 4439
Corresponding disease
GP1BA giant platelet syndrome 1A
PVWD platelet-type von Willebrand disease
Location 17p13.2      Physical location : 4.835.591 - 4.838.324
Synonym name
  • platelet membrane glycoprotein 1b-alpha subunit
  • CD42b antigen
  • GP-Ib alpha
  • Synonym symbol(s) BSS, GP1B, CD42B, MGC34595, CD42b-alpha, GPIb-alpha
    DNA
    TYPE functioning gene
    STRUCTURE 2.73 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2463 - 639 - Kunicki (2009)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticplasma   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal signal peptide
  • a calpain cleavage site (giving use to glycocalicin)
  • several O-glycosylation sites,seven leucine-rich repeats and a hydrophobic transmembrane domain near the C terminus
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • leucine-rich glycoprotein family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • GP1b complex involved in adhesion of a damaged vessel wall to the extra cellular matrix
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the GP1b complex (von Willebrand receptor) where it is linked to GP1BB through disulfide bonds non covalently to GP6 and GP9
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding VWF through its domain A1 and A3
  • interacting with FLNA
  • cell & other
    REGULATION
    Other adhesive function is regulated by its anchorage to the membrane skeleton through a specific interaction with filamin A
    ASSOCIATED DISORDERS
    corresponding disease(s) GP1BA , PVWD
    Susceptibility to development of retinopathy of prematurity (ROP)
    Variant & Polymorphism SNP association between SNPs and the development of ROP
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS