Description
Granulocyte Colony Stimulating Factor Receptor (G-CSFR) is also known as Cluster of Differentiation 114 (CD114), CSF3R and GCSF, is a cell-surface receptor for the granulocyte colony-stimulating factor (G-CSF), a cytokine that plays a critical role in the regulation of the activation, proliferation, differentiation, and survival of the neutrophilic granulocyte lineage.
G-CSFR belongs to a family of cytokine receptors known as the hematopoietin receptor family.
This type I membrane protein has a composite structure consisting of an immunoglobulin(Ig)-like domain, a cytokine receptor-homologous (CRH) domain and three fibronectin type I II (FNIII) domains in the extracellular region.
G-CSFR is present mainly on precursor cells in the bone marrow, and, in response to stimulation by G-CSF, initiates cell proliferation and differentiation into mature neutrophilic granulocytes and macrophages.
G-CSFR mediates the specific effect of GCSF through activating a variety of intracellular signaling cascades, including the Jak/Stat, PI3/Akt, Ras-Raf-MAP kinase, and Src family kinase pathways, and thus functions in defense against infection, inflammation and repair, and in the maintenance of steady state hematopoiesis.
Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.
Mutations in the intracellular part of this receptor are also associated with certain types of leukemia