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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Kinase, protein; EC 22.214.171.124; Protein kinase, TK; Protein kinase, tyrosine (receptor); 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; macrophage differentiation; phosphoinositide-mediated signaling; peptidyl-tyrosine phosphorylation; 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; regulation of cell shape; cell proliferation; 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
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.