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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
    Physical map
    LOC391292 22 similar to immunoglobulin superfamily, member 3; immunoglobin superfamily, member 3 LOC386610 22q11.21 E2F transcription factor 6 pseudogene LOC388845 22 LOC388845 LOC388846 22 similar to hypothetical protein DKFZp434P211.1 - human (fragments) LOC388847 22 similar to breakpoint cluster region isoform 1 LOC391293 22 LOC391293 LOC388848 22 LOC388848 DGCR6 22q11.21 DiGeorge syndrome critical region gene 6 PRODH 22q11.21 proline dehydrogenase (oxidase) 1 DGCR5 22q11 DiGeorge syndrome critical region gene 5 (non-coding) LOC391294 22 similar to POM121 membrane glycoprotein-like 1 LOC343830 22q11.21 similar to carbonic anhydrase XV DGCR2 22q11.21 DiGeorge syndrome critical region gene 2 LOC391295 22 similar to serine/threonine kinase FKSG81; spermiogenesis associated 4 STK22B 22q11.2 serine/threonine kinase 22B (spermiogenesis associated) DGCR14 22q11.21 DiGeorge syndrome critical region gene 14 GSCL 22q11.21 goosecoid-like SLC25A1 22q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 CLTCL1 22q11.21 clathrin, heavy polypeptide-like 1 HIRA 22q11.21-q11.23 HIR histone cell cycle regulation defective homolog A (S. cerevisiae) MRPL40 22q11.2 mitochondrial ribosomal protein L40 LOC128977 22q11.21 hypothetical protein LOC128977 UFD1L 22q11.21 ubiquitin fusion degradation 1-like CDC45L 22q11.2 CDC45 cell division cycle 45-like (S. cerevisiae) CLDN5 22q11.21 claudin 5 (transmembrane protein deleted in velocardiofacial syndrome) PNUTL1 22q11.21 peanut-like 1 (Drosophila) GP1BB 22q11.21 glycoprotein Ib (platelet), beta polypeptide LOC391296 22 similar to contains similarity to cell wall-plasma membrane linker protein~gene_id:MKA23.5 TBX1 22q11.21 T-box 1 GNB1L 22q11.2 guanine nucleotide binding protein (G protein), beta polypeptide 1-like FLJ21125 22q11.21 hypothetical protein FLJ21125 TXNRD2 22q11.21 thioredoxin reductase 2 COMT 22q11.2 catechol-O-methyltransferase ARVCF 22q11.21 armadillo repeat gene deletes in velocardiofacial syndrome DKFZp761P1121 22q11.21 hypothetical protein DKFZp761P1121 DGCR8 22q11.2 DiGeorge syndrome critical region gene 8 HTF9C 22q11.2 DiGeorge syndrome critical region gene 8 RANBP1 22q11.21 RAN binding protein 1 ZDHHC8 22q11.1 zinc finger, DHHC domain containing 8 LOC388849 22 LOC388849 FLJ32575 22q11.21 hypothetical protein FLJ32575 RTN4R 22q11.21 reticulon 4 receptor LOC388850 22 similar to proline dehydrogenase (oxidase) 1; proline oxidase 2; p53 induced protein; tumor protein p53 inducible protein 6 DGCR6L 22q11.2 DiGeorge syndrome critical region gene 6-like LOC391297 22 LOC391297 LOC284859 22q11.21 hypothetical gene supported by BC039313 GGT2 22q11 gamma-glutamyltransferase 2 LOC284874 22q11.21 hypothetical LOC284874 LOC388851 22 similar to phosphatidylinositol 4-kinase, catalytic, alpha polypeptide isoform 2; phosphatidylinositol 4-kinase, type II, alpha; phosphatidylinositol 4-kinase, type III, alpha; phosphatidylinositol 4-kinase 230 LOC388852 22 similar to hypothetical protein LOC388853 22 similar to Sushi domain (SCR repeat) containing
    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