Contents

GP1BB

Protein-coding gene in the species Homo sapiens

GP1BB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3REZ, 3RFE
Identifiers
Aliases	GP1BB, BDPLT1, BS, CD42C, GPIBB, GPIbbeta, glycoprotein Ib platelet beta subunit, glycoprotein Ib platelet subunit beta
External IDs	OMIM: 138720; MGI: 107852; HomoloGene: 30972; GeneCards: GP1BB; OMA:GP1BB - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.21 Start 19,723,539 bp[1] End 19,724,771 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 11.53 cM Start 18,439,067 bp[2] End 18,441,153 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte blood primary visual cortex gonad olfactory zone of nasal mucosa bone marrow cells spleen superior frontal gyrus sural nerve Top expressed in ileum spleen jejunum bone marrow ganglionic eminence neural tube mesencephalon striatum of neuraxis vasculature embryo More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding transmembrane signaling receptor activity identical protein binding Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane Biological process platelet activation blood coagulation, intrinsic pathway hemostasis cell surface receptor signaling pathway cell adhesion blood coagulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2812 14724 Ensembl ENSG00000203618 ENSMUSG00000050761 UniProt P13224 P56400 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: 18.44 – 18.44 Mb PubMed search [3] [4]
Wikidata
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Glycoprotein Ib (platelet), beta polypeptide (GP1BB) also known as CD42c (Cluster of Differentiation 42c), is a protein that in humans is encoded by the GP1BB gene.^[5]

Function[edit]

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 Glycoprotein Ib-IX-V Receptor Complex (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.^[5]

Interactions[edit]

GP1BB has been shown to interact with YWHAZ.^[6][7][8]

See also[edit]

• Cluster of differentiation

References[edit]

Further reading[edit]

External links[edit]

• GP1BB+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Platelet glycoprotein Ib beta chain (GP1BB)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.