Phosphorylation of extracellular domain KIT mutants

Stable Identifier
Reaction [transition]
Homo sapiens
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Mutations occurring in the fifth Ig-like extracellular domain of KIT (encoded by exon 8 and 9) are insertions, deletions and duplications affecting codons 502-504 (reviewed in Lennartsson and Roonstrand, 2012; Corless et al, 2011). These variants support ligand-independent autophosphorylation and activation of the receptor dimers (Bodemer et al, 2010; Cammenga et al, 2005).

Literature References
PubMed ID Title Journal Year
19865100 Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations

Nasca, L, Lortholary, O, Sobol, H, Catteau, B, Barete, S, Stalder, JF, Grandpeix-Guyodo, C, Launay, JM, Lorette, G, Plantin, P, Georgin-Lavialle, S, Cohen-Akenine, A, Bordigoni, P, Palmérini, F, Arock, M, Dubreuil, P, Sans, B, Feger, F, Bodemer, C, Hermine, O, Yang, Y, de Prost, Y, Leventhal, PS, Skowron, F, Thomas, L, Moussy, A, Hadj-Rabia, S

J. Invest. Dermatol. 2010
23073628 Stem cell factor receptor/c-Kit: from basic science to clinical implications

Rönnstrand, L, Lennartsson, J

Physiol. Rev. 2012
22089421 Gastrointestinal stromal tumours: origin and molecular oncology

Barnett, CM, Corless, CL, Heinrich, MC

Nat. Rev. Cancer 2011
16081693 Extracellular KIT receptor mutants, commonly found in core binding factor AML, are constitutively active and respond to imatinib mesylate

Besmer, P, Fiedler, W, Cammenga, J, Stocking, C, Horn, S, Bergholz, U, Sommer, G

Blood 2005
Catalyst Activity

protein tyrosine kinase activity of extracellular domain mutant dimers of KIT [plasma membrane]

Functional status

Gain of function of extracellular domain mutant dimers of KIT [plasma membrane]

Disease Entity
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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