Phosphorylation of juxtamembrane domain KIT mutants

Stable Identifier
Reaction [transition]
Homo sapiens
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Juxtamembrane mutations in KIT lead to constitutive, ligand-independent autophosphorylation of receptor, activating downstream signaling (Hirota et al, 1998; Kitayama et al, 1995; Tsujimura et al, 1994; Furitsu et al, 1993; reviewed in Roskoski, 2018).

Literature References
PubMed ID Title Journal Year
29704617 The role of small molecule Kit protein-tyrosine kinase inhibitors in the treatment of neoplastic disorders

Roskoski, R

Pharmacol. Res. 2018
7513208 Ligand-independent activation of c-kit receptor tyrosine kinase in a murine mastocytoma cell line P-815 generated by a point mutation

Kitamura, Y, Kanakura, Y, Matsuzawa, Y, Isozaki, K, Morimoto, M, Nomura, S, Furitsu, T, Tsujimura, T

Blood 1994
9438854 Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors

Kitamura, Y, Muhammad Tunio, G, Kanakura, Y, Matsuzawa, Y, Hanada, M, Moriyama, Y, Isozaki, K, Nishida, T, Hashimoto, K, Ishiguro, S, Kawano, K, Takeda, M, Kurata, A, Hirota, S, Shinomura, Y

Science 1998
7530509 Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines

Kitamura, Y, Kanakura, Y, Kanayama, Y, Kitayama, H, Matsuzawa, Y, Sugahara, H, Tsujimura, T, Furitsu, T, Mitsui, H, Oritani, K, Ikeda, H

Blood 1995
7691885 Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product

Kitamura, Y, Kanakura, Y, Kanayama, Y, Matsuzawa, Y, Sugahara, H, Tono, T, Tsujimura, T, Butterfield, JH, Koshimizu, U, Ashman, LK, Kitayama, H, Furitsu, T, Ikeda, H

J. Clin. Invest. 1993
Catalyst Activity

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

Functional status

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

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