Kit: a receptor tyrosine kinase and a member of the subfamily that includes PDGF, CSF-1 and FLT-3/flk-2 receptors. Receptor for stem cell factor. Plays a critical role in hematopoietic stem cell, mast cell, melanocyte and germ cell development. Ligand binding induces autophosphorylation, dimerization and activation, leading to the recruitment and phosphorylation of downstream SH2-containing signaling components including PLC-gamma, PI3 kinase p85, SHP2 and CrkL, linking c-Kit to various cell signaling pathways. Molecular lesions that impair the kinase activity of c-Kit are associated with a variety of developmental disorders, while mutations that constitutively activate c-Kit can lead to hyperplasia and tumorigenesis. Activating mutations cause >90% of gastrointestinal stromal tumors (GIST); successfully treated with inhibitors Gleevec (imatinib, Glivec) and Sutent (Sutinib, SU11248). Activating mutations also induce mastocytosis. Autocrine/paracrine stimulation may drive some lung and other tumors. Loss of expression associated with melanoma progression. Familial loss of function mutations cause piebaldism, with defects in hair and skin pigmentation due to lack of melanocytes.
Protein type: Membrane protein, integral; Oncoprotein; Kinase, protein; Protein kinase, tyrosine (receptor); EC 2.7.10.1; Protein kinase, TK; TK group; PDGFR family
Cellular Component: extracellular space; internal side of plasma membrane; mast cell granule; cell surface; membrane; cytoplasm; integral to membrane; acrosome; plasma membrane; intercellular junction; intracellular; external side of plasma membrane
Molecular Function: protein homodimerization activity; protease binding; metal ion binding; nucleotide binding; stem cell factor receptor activity; transmembrane receptor protein tyrosine kinase activity; receptor signaling protein tyrosine kinase activity; protein kinase activity; transferase activity; protein binding; protein-tyrosine kinase activity; cytokine binding; transferase activity, transferring phosphorus-containing groups; kinase activity; ATP binding
Biological Process: activation of MAPK activity; somatic stem cell maintenance; germ cell programmed cell death; positive regulation of JAK-STAT cascade; lymphoid progenitor cell differentiation; positive regulation of long-term neuronal synaptic plasticity; protein amino acid phosphorylation; positive regulation of tyrosine phosphorylation of Stat3 protein; germ cell development; positive regulation of MAP kinase activity; regulation of cell shape; epithelial cell proliferation; germ cell migration; somatic stem cell division; erythrocyte differentiation; T cell differentiation; mast cell chemotaxis; embryonic hemopoiesis; stem cell differentiation; detection of mechanical stimulus involved in sensory perception of sound; positive regulation of tyrosine phosphorylation of Stat1 protein; glycosphingolipid metabolic process; immature B cell differentiation; positive regulation of transcription factor activity; regulation of pigmentation during development; mast cell cytokine production; transmembrane receptor protein tyrosine kinase signaling pathway; peptidyl-tyrosine phosphorylation; protein amino acid autophosphorylation; pigmentation during development; chemotaxis; response to radiation; ovarian follicle development; positive regulation of MAPKKK cascade; myeloid progenitor cell differentiation; melanocyte differentiation; positive regulation of cell proliferation; negative regulation of programmed cell death; visual learning; hemopoiesis; cell differentiation; inflammatory response; positive regulation of Notch signaling pathway; lamellipodium biogenesis; dendritic cell cytokine production; cytokine and chemokine mediated signaling pathway; mast cell degranulation; positive regulation of pseudopodium formation; pigmentation; gut development; positive regulation of tyrosine phosphorylation of Stat5 protein; actin cytoskeleton reorganization; myeloid leukocyte differentiation; spermatogenesis; phosphorylation; spermatid development; positive regulation of cell migration
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