Autocatalytic phosphorylation of FGFR4 mutants with enhanced kinase activity

Stable Identifier
Homo sapiens
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FGFR4 N535K and FGFR4 V550E have been shown to undergo autophosphorylation when transfected into a murine rhabdomysarcoma (RMS) cell line and to promote transformation in NIH 3T3 cells. Receptor activation leads to increased signaling through STAT3, but decreased levels of phospho-AKT and phospho-Erk1/2 compared to vector control. Cells transfected with the N535K and V550E mutants also showed upregulation of cell cycle and DNA replication gene pathways and significantly higher growth rates (Taylor, 2009).

Literature References
PubMed ID Title Journal Year
19809159 Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models

Chanock, SJ, Cheuk, AT, Catchpoole, D, Desai, K, Chung, JY, Chen, QR, Hewitt, SM, Fang, J, Helman, LJ, Khan, J, Kim, S, Merlino, G, Khanna, C, Mendoza, A, Ngo, V, Tsang, PS, Staudt, LM, Taylor JG, 6th, Song, YK, Shah, K, Qualman, SJ, Wei, JS, Yeung, C, Youngblood, V, Yu, Y

J Clin Invest 2009
Catalyst Activity

protein tyrosine kinase activity of FGFR4 enhanced kinase mutant dimers [plasma membrane]

Normal reaction
Functional status

Gain of function of FGFR4 enhanced kinase mutant dimers [plasma membrane]

Name Identifier Synonyms
rhabdomyosarcoma DOID:3247 Rhabdomyosarcoma NOS (morphologic abnormality), rhabdomyosarcoma, Rhabdomyosarcoma, no subtype (morphologic abnormality), rhabdomyoblastoma, Rhabdomyosarcoma (disorder)
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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