GP9 Gene Summary [Human]

This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]

Details

Type
Protein Coding
Official Symbol
GP9
Official Name
glycoprotein IX platelet [Source:HGNC Symbol;Acc:HGNC:4444]
Ensembl ID
ENSG00000169704
Bio databases IDs NCBI: 2815 Ensembl: ENSG00000169704
Aliases glycoprotein IX platelet, platelet glycoprotein IX
Synonyms CD42, CD42a, glycoprotein 9 platelet, glycoprotein IX platelet, glycoprotein IX (platelet), GPIX
Species
Human, Homo sapiens
OrthologiesMouseRat

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 GP9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Leucine rich repeat C-terminal domain
  • protein binding
  • Leucine rich repeat N-terminal domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Bernard-Soulier syndrome type C
  • primary hyperaldosteronism
  • Bernard-Soulier syndrome
  • pemphigus vulgaris
  • essential thrombocythemia
  • type M7 acute myeloid leukemia
regulated by
regulates
role in cell
  • binding
  • phosphorylation in
  • adhesion
  • cell rolling
  • activation
  • production in
  • autophagy
  • autophagy in
  • size

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 human GP9 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
  • release of sequestered calcium ion into cytosol
  • blood coagulation

Cellular Component

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

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

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