RAF1 mutant complexes phosphorylate MAP2K dimer

Stable Identifier
R-HSA-9656215
Type
Reaction [transition]
Species
Homo sapiens
Compartment
plasma membrane
ReviewStatus
5/5
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RAF1 mutant complexes phosphorylate MAP2K dimer
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The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
MAPK2Ks are phosphorylated downstream of mutant RAF1 proteins (Razzaque et al, 2007; Pandit et al, 2007; Kobayashi et al, 2010; Wu et al, 2012).
Literature References
PubMed ID Title Journal Year
20052757 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

David, A, Aoki, Y, Kure, S, Matsubara, Y, Lapunzina, P, Gillessen-Kaesbach, G, Ohata, T, Verloes, A, Cavé, H, Kurosawa, K, Ando, T, Nakagawa, N, Narumi, Y, Ohashi, H, Takada, F, Philip, N, Mizuno, S, Tsuchiya, S, Sakazume, S, Niihori, T, Wieczorek, D, Fujiwara, I, Okamoto, N, Kawame, H, Kobayashi, T, Meneses, AG, Guliyeva, A

Hum. Mutat. 2010
17603482 Germline gain-of-function mutations in RAF1 cause Noonan syndrome

Kamisago, M, Nakagawa, M, Hirota, H, Muneuchi, J, Matsushima, M, Mizuno, K, Momma, K, Higashinakagawa, T, Komoike, Y, Fujiwara, Y, Amo, R, Furutani, M, Razzaque, MA, Nishizawa, T, Yagi, H, Katayama, H, Tokuyama, M, Matsuoka, R

Nat. Genet. 2007
22826437 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants

Kim, KH, Araki, T, Gu, S, Yin, J, Simpson, J, Neel, BG, Hong, JH, Wu, X, Backx, PH, Bayliss, P

Mol. Cell. Biol. 2012
17603483 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Ackerman, MJ, Marino, B, Zampino, G, Pennacchio, LA, Bos, JM, Martinelli, S, Gelb, BD, Mazzanti, L, Lepri, F, Faul, C, Rossi, C, López Siguero, JP, Esposito, G, Carta, C, Selicorni, A, Tenconi, R, Oishi, K, Pogna, EA, Torrente, I, Pandit, B, Dallapiccola, B, Mundel, P, Ustaszewska, A, Schackwitz, W, Sarkozy, A, Digilio, MC, Landstrom, A, Ommen, SR, Tartaglia, M

Nat Genet 2007
Participants
Input
Output
Participates
as an event of
Catalyst Activity

protein serine/threonine kinase activity of activated RAF1 mutant:scaffold:MAP2K:MAPK complex [plasma membrane]

Physical Entity
activated RAF1 mutant:scaffold:MAP2K:MAPK complex [plasma membrane] (Homo sapiens)
Activity
protein serine/threonine kinase activity (GO:0004674)
Normal reaction
RAF phosphorylates MAP2K dimer (Homo sapiens)
Functional status

Gain of function of activated RAF1 mutant:scaffold:MAP2K:MAPK complex [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
Costello syndrome DOID:0050469 Faciocutaneoskeletal Syndrome, FCS SYNDROME
LEOPARD syndrome DOID:14291 Generalized lentiginosis, Multiple lentigines syndrome, Moynahan syndrome, Cardiocutaneous syndrome, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Lentiginosis profusa syndrome, Gorlin syndrome II, Progressive cardiomyopathic lentiginosis
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Noonan syndrome DOID:3490 Turner's phenotype, karyotype normal (disorder)
hypertrophic cardiomyopathy DOID:11984 familial hypertrophic cardiomyopathy, hypertrophic obstructive cardiomyopathy
Authored
Rothfels, K  (2019-10-25)
Reviewed
Gavathiotis, E  (2020-05-04)
Created
Rothfels, K  (2019-07-27)
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