Gp1bb Gene Summary [Rat]

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 in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]

Details

Type
Protein Coding
Official Symbol
Gp1bb
Official Name
glycoprotein Ib platelet subunit beta [Source:RGD Symbol;Acc:621050]
Ensembl ID
ENSRNOG00000046981
Bio databases IDs NCBI: 116727 Ensembl: ENSRNOG00000046981
Aliases glycoprotein Ib platelet subunit beta
Synonyms BDPLT1, BS, CD42C, glycoprotein Ib, beta polypeptide, glycoprotein Ib platelet subunit beta, glycoprotein Ib platelet subunit β, glycoprotein Ib, β polypeptide, GP1B beta, GP1BP, GP1B β, GPIBB, GPIbbeta, GPIb β
Species
Rat, Rattus norvegicus
OrthologiesHumanMouse

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in rat Gp1bb often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • cytoplasmic domain
  • Leucine rich repeat C-terminal domain
  • protein binding
  • Leucine rich repeat N-terminal domain
  • identical protein binding
  • phosphorylation site

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • essential thrombocythemia
  • obesity
  • systemic lupus erythematosus
  • Bernard-Soulier syndrome
  • androgenic alopecia
  • macrothrombocytopenia
  • thrombocytopenia
  • global developmental delay with intellectual disability
  • Bernard-Soulier syndrome type B
  • neonatal alloimmune thrombocytopenia
regulated by
regulates
role in cell
  • activation
  • adhesion
  • abnormal morphology
  • volume
  • exposure in
  • mobilization in
  • generation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cell surface
  • cellular membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the rat Gp1bb gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of platelet activation
  • megakaryocyte development
  • blood coagulation, intrinsic pathway
  • cell adhesion
  • cell surface receptor signaling pathway
  • release of sequestered calcium ion into cytosol
  • platelet activation

Cellular Component

Where in the cell the gene product is active
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • transmembrane signaling receptor activity

Gene-Specific Assays for Results You Can Trust

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