CSF1R Cell Lysate – Tissue Lysate

The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. [provided by RefSeq, Jul 2008]

CSFR: an oncogenic tyrosine kinase receptor for CSF-1 (M-CSF). Drives growth and development of monocytes. Binding of CSF-1 induces receptor dimerization, activation and autophosphorylation of cytoplasmic tyrosine residues used as docking sites for SH2-containing signaling proteins. There are at least five major tyrosine autophosphorylation sites. Two point mutations seen in 10-20% of patients with acute myeloid leukemia, chronic myelomonocytic leukemia or myelodysplasia. One mutation appears to be both somatic and germline, and disrupts Cbl binding and receptor turnover. v-fms lacks the Cbl binding site and causes feline leukemia. Mutations may also develop after chemotherapy for lymphoma. A distinct point mutation was found in some cases of hepatocellular carcinoma and related to increased expression, and another mutation was found in 2 of 40 patients with idiopathic myelofibrosis. Expression is elevated in breast tumors and cell lines, and expression in xenografts and transgenic mice has been correlated with xenograft growth and breast cancer development. Inhibitors: Ki-20227 and other Kit/PDGFR inhibitors.

Protein type: Protein kinase, TK; Protein kinase, tyrosine (receptor); Oncoprotein; Kinase, protein; EC 2.7.10.1; Membrane protein, integral; TK group; PDGFR family

Chromosomal Location of Human Ortholog: 5q32

Cellular Component: cell surface; integral to plasma membrane; plasma membrane; receptor complex

Molecular Function: macrophage colony stimulating factor receptor activity; protein homodimerization activity; cytokine binding; protein phosphatase binding; ATP binding

Biological Process: regulation of bone resorption; peptidyl-tyrosine phosphorylation; phosphoinositide-mediated signaling; macrophage differentiation; monocyte differentiation; multicellular organismal development; cytokine and chemokine mediated signaling pathway; protein amino acid autophosphorylation; osteoclast differentiation; signal transduction; positive regulation of tyrosine phosphorylation of Stat3 protein; cell proliferation; regulation of cell shape; positive regulation of cell proliferation; ruffle organization and biogenesis; innate immune response; hemopoiesis; phosphatidylinositol metabolic process; positive regulation of protein amino acid phosphorylation; inflammatory response; intercellular junction maintenance; transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of cell migration

Disease: Leukoencephalopathy, Diffuse Hereditary, With Spheroids