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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. Note: This description may include information from UniProtKB.
Protein type: EC; Kinase, protein; Membrane protein, integral; Oncoprotein; PDGFR family; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group
Chromosomal Location of Human Ortholog: 4q12
Cellular Component: acrosomal vesicle; cytoplasmic side of plasma membrane; external side of plasma membrane; extracellular space; integral component of membrane; intercellular junction; mast cell granule; plasma membrane
Molecular Function: ATP binding; cytokine binding; metal ion binding; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protease binding; protein binding; protein homodimerization activity; protein tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity; signal transducer, downstream of receptor, with protein tyrosine kinase activity; stem cell factor receptor activity; transmembrane receptor protein tyrosine kinase activity
Biological Process: actin cytoskeleton reorganization; activation of MAPK activity; cytokine-mediated signaling pathway; dendritic cell cytokine production; detection of mechanical stimulus involved in sensory perception of sound; embryonic hemopoiesis; epithelial cell proliferation; erythrocyte differentiation; erythropoietin-mediated signaling pathway; Fc receptor signaling pathway; germ cell migration; germ cell programmed cell death; glycosphingolipid metabolic process; gut development; hemopoiesis; immature B cell differentiation; inflammatory response; Kit signaling pathway; lamellipodium assembly; lymphoid progenitor cell differentiation; male gonad development; MAPK cascade; mast cell chemotaxis; mast cell cytokine production; mast cell degranulation; melanocyte adhesion; melanocyte differentiation; melanocyte migration; myeloid progenitor cell differentiation; negative regulation of programmed cell death; ovarian follicle development; peptidyl-tyrosine phosphorylation; phosphatidylinositol phosphorylation; pigmentation; positive regulation of cell migration; positive regulation of cell proliferation; positive regulation of colon smooth muscle contraction; positive regulation of gene expression; positive regulation of JAK-STAT cascade; positive regulation of long-term neuronal synaptic plasticity; positive regulation of MAPK cascade; positive regulation of Notch signaling pathway; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of phospholipase C activity; positive regulation of protein kinase B signaling; positive regulation of pseudopodium assembly; positive regulation of pyloric antrum smooth muscle contraction; positive regulation of small intestine smooth muscle contraction; positive regulation of transcription factor activity; positive regulation of tyrosine phosphorylation of STAT protein; positive regulation of vascular smooth muscle cell differentiation; protein autophosphorylation; regulation of bile acid metabolic process; regulation of cell proliferation; regulation of cell shape; regulation of developmental pigmentation; regulation of transcription from RNA polymerase II promoter; response to cadmium ion; signal transduction; somatic stem cell division; somatic stem cell maintenance; spermatid development; spermatogenesis; stem cell differentiation; stem cell maintenance; T cell differentiation; tongue development; visual learning
Disease: Gastrointestinal Stromal Tumor; Mast Cell Disease; Piebald Trait; Testicular Germ Cell Tumor
Reference #:  P10721 (UniProtKB)
Alt. Names/Synonyms: C-Kit; CD117; KIT; Mast/stem cell growth factor receptor; PBT; Proto-oncogene c-Kit; proto-oncogene tyrosine-protein kinase Kit; SCFR; soluble KIT variant 1; Tyrosine-protein kinase Kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Gene Symbols: KIT
Molecular weight: 109,865 Da
Basal Isoelectric point: 6.54  Predict pI for various phosphorylation states
CST Pathways:  Tyrosine Kinases & Substrates
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