GP1BB Products

Description

Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alphachain 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, andGPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling throughphosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated withBernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIbbeta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arisingfrom a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this producthas been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissuessuch as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signalwithin a separate gene (septin 5) located upstream of this gene. In the absence of polyadenylation from its ownimperfect site, the septin 5 gene uses the consensus polyA signal of this gene. (provided by RefSeq)

Bioinformatics

Entrez	2812 Human
Product By Gene ID	2812
Alternate Names	antigen CD42b-beta BDPLT1 BS glycoprotein Ib (platelet), beta polypeptide glycoprotein Ib platelet beta subunit GPIBB GPIbbeta GPIb-beta nuclear localization signal deleted in velocardiofacial syndrome platelet glycoprotein Ib beta chain platelet membrane glycoprotein Ib beta truncated platelet membrane glycoprotein Ib beta