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GP1BB

GP1BB
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GP1BB, BDPLT1, BS, CD42C, GPIBB, GPIbbeta, glycoprotein Ib platelet beta subunit
External IDs MGI: 107852 HomoloGene: 30972 GeneCards: GP1BB
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000407

NM_001001999
NM_010327

RefSeq (protein)

NP_000398

NP_001001999
NP_034457

Location (UCSC) Chr 22: 19.72 – 19.72 Mb Chr 16: 18.62 – 18.62 Mb
PubMed search

3REZ, 3RFE

NM_000407

NM_001001999
NM_010327

NP_000398

NP_001001999
NP_034457

Glycoprotein Ib (platelet), beta polypeptide (GP1BB) also known as CD42c (Cluster of Differentiation 42c), is a human gene.

Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal within a separate gene (septin 5) located upstream of this gene. In the absence of polyadenylation from its own imperfect site, the septin 5 gene uses the consensus polyA signal of this gene.


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