Structural highlights
Disease
SHOC2_HUMAN Noonan syndrome-like disorder with loose anagen hair. The disease is caused by variants affecting the gene represented in this entry.
Function
SHOC2_HUMAN Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.[1] [2] [3]
References
- ↑ Li W, Han M, Guan KL. The leucine-rich repeat protein SUR-8 enhances MAP kinase activation and forms a complex with Ras and Raf. Genes Dev. 2000 Apr 15;14(8):895-900. PMID:10783161
- ↑ Rodriguez-Viciana P, Oses-Prieto J, Burlingame A, Fried M, McCormick F. A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity. Mol Cell. 2006 Apr 21;22(2):217-30. doi: 10.1016/j.molcel.2006.03.027. PMID:16630891 doi:http://dx.doi.org/10.1016/j.molcel.2006.03.027
- ↑ Hannig V, Jeoung M, Jang ER, Phillips JA 3rd, Galperin E. A Novel SHOC2 Variant in Rasopathy. Hum Mutat. 2014 Nov;35(11):1290-4. doi: 10.1002/humu.22634. Epub 2014 Sep 11. PMID:25137548 doi:http://dx.doi.org/10.1002/humu.22634
