MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/SMRT complex

Stable Identifier
R-HSA-9005585
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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Missense mutations in the transcriptional repression domain of methyl-CpG-binding protein 2 (MECP2) abolish the binding ability of MECP2 to the nuclear receptor co-repressor (NCoR/SMRT) complex. Functionally tested Rett syndrome MECP2 mutants that are unable to bind to the NCoR/SMRT complex include MECP2 P302R, MECP2 K304E, MECP2 K305R and MECP2 R306C. The MECP2 R306H mutant has not been experimentally characterized but is a candidate member of this set of MET mutants, based on sequence similarity (Lyst et al. 2013, Ebert et al. 2013).

Literature References
PubMed ID Title Journal Year
23770587 Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR

Ebert, DH, Gabel, HW, Robinson, ND, Kastan, NR, Hu, LS, Cohen, S, Navarro, AJ, Lyst, MJ, Ekiert, R, Bird, AP, Greenberg, ME

Nature 2013
23770565 Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

Lyst, MJ, Ekiert, R, Ebert, DH, Merusi, C, Nowak, J, Selfridge, J, Guy, J, Kastan, NR, Robinson, ND, de Lima Alves, F, Rappsilber, J, Greenberg, ME, Bird, A

Nat. Neurosci. 2013
Participants
Participant Of
Normal reaction
Inferred From
Disease
Name Identifier Synonyms
Rett syndrome 1206 Rett's disorder, cerebroatrophic hyperammonemia
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