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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
    Physical map
    FLJ90165 17p13.3 hypothetical protein FLJ90165 LOC124974 17p13.3 thioredoxin 1 pseudogene 4 FLJ42461 17p13.3 FLJ42461 protein ALOX15 17p13.1 arachidonate 15-lipoxygenase PELP1 17p13.3 arachidonate 15-lipoxygenase LOC390758 17 similar to 40S RIBOSOMAL PROTEIN S12 ARRB2 17p13 arrestin, beta 2 CXCL16 17p13 chemokine (C-X-C motif) ligand 16 LOC388322 17 similar to HSPC296 ZMYND15 17p13.3 zinc finger, MYND domain containing 15 TM4SF5 17p13.3 transmembrane 4 superfamily member 5 LOC284013 17p13.3 secretory protein LOC284013 LOC388323 17 similar to RIKEN cDNA C730027E14 PSMB6 17p13 proteasome (prosome, macropain) subunit, beta type, 6 PLD2 17p13.1 phospholipase D2 LOC284015 17p13.3 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit MINK 17p13 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit CHRNE 17p13.1 cholinergic receptor, nicotinic, epsilon polypeptide GP1BA 17pter-p12 glycoprotein Ib (platelet), alpha polypeptide SLC25A11 17p13.3 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 DKFZP566H073 17p13.3 DKFZP566H073 protein PFN1 17p13.3 profilin 1 ENO3 17pter-p12 enolase 3, (beta, muscle) SPAG7 17p13.2 sperm associated antigen 7 CAMTA2 17p13.3 calmodulin binding transcription activator 2 LOC388324 17 LOC388324 KIF1C 17p13 kinesin family member 1C FLJ10060 17p13.3 putative G-protein coupled receptor GPCR42 FLJ30726 17p13.3 hypothetical protein FLJ30726 ZNF232 17p13-p12 zinc finger protein 232 USP6 17q11 ubiquitin specific protease 6 (Tre-2 oncogene) KIAA1871 17p13 KIAA1871 protein LOC388325 17 similar to DTFT5783
    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