SHOC2 M173I disrupts the SHOC2:MRAS:PP1 complex

Stable Identifier
R-HSA-9660536
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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A loss-of-function mutation in SHOC2 has been identified in a patient with a Noonan-related syndrome (Hannig et al, 2014). SHOC2 M173I has impaired ability to interact with PPP1CC and reduces the MRAS-SHOC2-PP1-dependent dephosphorylation of RAF, which is required for RAF pathway activation (Rodriguez-Viciano et al, 2006; Hannig et al, 2014). How both loss and gain-of-function SHOC2 mutants can contribute to RAF pathway activation remains to be elucidated.

Literature References
PubMed ID Title Journal Year
16630891 A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity

Rodriguez-Viciana, P, Oses-Prieto, J, Burlingame, A, Fried, M, McCormick, F

Mol. Cell 2006
25137548 A Novel SHOC2 Variant in Rasopathy

Hannig, V, Jeoung, M, Jang, ER, Phillips, JA, Galperin, E

Hum. Mutat. 2014
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
protein serine/threonine phosphatase activity of SHOC2 M173I:MRAS:PP1 [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
Noonan syndrome 3490 Turner's phenotype, karyotype normal (disorder)
Authored
Reviewed
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