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Beschreibung

Granulocyte colony-stimulating factor receptor (UniProt Q99062, also known as CD114, G-CSF-R, G-CSF receptor) is encoded by the CSF3R (also known as GCSFR) gene (Gene ID 1441) in human. CD114/G-CSF-R belongs to the type I subgroup of the superfamily of cytokine receptors. G-CSF-R mediates granulocyte proliferation and differentiation in both normal and malignant hematopoiesis. G-CSF-R functions as the receptor for granulocyte colony-stimulating factor (G-CSF) and is activated via ligand-induced homodimerization. The G-CSF/GCSF-R complex mediates survival, proliferation, and maturation of neutrophils and regulates granulopoiesis under both normal and stress conditions. Cell signaling via G-CSF-R is transduced primarily via the Jak/STAT pathway, but the Ras/Raf/MAP kinase and PKB/Akt pathways are also involved. CSF3R gene mutations are well documented in congenital neutropenia as well as the associated predisposition to myelodysplasia and acute myeloid leukemia myeloproliferative disorders. Human G-CSF-R is produced with a signal peptide sequence (a.a. 1-24), the removal of which yields the mature single transmembrane (a.a. 628-650) receptor with a C-terminal cytoplasmic tail (a.a. 651-836) and a large N-terminal extracellular sequence (a.a. 25-627) composed of a C2-type Ig-like domain (a.a. 25-117) and five type-III fibronectin domains (a.a. 125-623).