GP1BA Gene Summary [Human]
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
Details
| Type | Protein Coding |
| Official Symbol | GP1BA |
| Official Name | glycoprotein Ib platelet subunit alpha [Source:HGNC Symbol;Acc:HGNC:4439] |
| Ensembl ID | ENSG00000185245 |
| Bio databases IDs | |
| Aliases | glycoprotein Ib platelet subunit alpha, platelet glycoprotein Ib alpha chain |
| Synonyms | BDPLT1, BDPLT3, BSS, CD42B, CD42b-alpha, CD42b-α, DBPLT3, glycoprotein 1b, alpha polypeptide, Glycoprotein 1b α, glycoprotein 1b, α polypeptide, glycoprotein Ib platelet subunit alpha, glycoprotein Ib platelet subunit α, GP1B, GP1B alpha, GP1B α, GPIbA, GP-Ib alpha, GP-Ib α, LOC687719, VWDP |
| Species | Human, Homo sapiens |
| Orthologies |
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 human GP1BA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 14-3-3 binding domain
- extracellular domain
- filamin binding domain
- protein phosphatase 1 regulatory subunit 42
- ectodomain
- Leucine rich repeat
- Leucine rich repeat C-terminal domain
- protein binding
- Leucine Rich repeats (2 copies)
- leucine-rich repeat
- Cornifin (SPRR) family
- cytoplasmic domain
- intracellular domain
- Leucine rich repeat N-terminal domain
- cytosolic tail domain
- Metaviral_G glycoprotein
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- bleeding
- rheumatoid arthritis
- colorectal cancer
- Bernard-Soulier syndrome
- Bernard-Soulier syndrome type A1
- Bernard-Soulier syndrome type A2
- platelet type pseudo-von Willebrand disease
- primary antiphospholipid antibody syndrome
- thrombocytopenia
- essential thrombocythemia
role in cell
- expression in
- recruitment
- quantity
- formation in
- binding in
- formation
- binding
- adhesion
- activation
- aggregation
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
- plasma membrane extracellular face
- plasma
- actin cytoskeletal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GP1BA 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
- regulation of blood coagulation
- cell morphogenesis
- blood coagulation, intrinsic pathway
- cell surface receptor signaling pathway
- cell adhesion
- blood coagulation
- fibrinolysis
- thrombin receptor signaling pathway
- megakaryocyte development
- release of sequestered calcium ion into cytosol
- platelet activation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- membrane
- external side of plasma membrane
- extracellular matrix
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding
- thrombin receptor activity