Reactome: A Curated Pathway Database

AMER1 mutants destabilize the destruction complex

Stable Identifier
R-HSA-4839748
Type
Pathway
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Summation

AMER1/WTX is a component of the destruction complex that interacts directly with beta-catenin through its C-terminal half. Depletion of AMER1 through siRNA stabilizes cellular beta-catenin levels and increases transcriptional activity in a reporter assay consistent with a role for AMER1 in the degradation of beta-catenin (Major et al, 2007). Deletions of the entire AMER1 gene have been reported in Wilms tumor, as have nonsense and missense mutations that truncate the protein before the beta-catenin interaction domain. These mutations are predicted to stabilize beta-catenin and increase WNT signaling (reviewed in Saito-Diaz et al, 2013; Huff, 2011).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
kidney cancer 263 malignant neoplasm of kidney except pelvis, malignant tumour of kidney, renal cancer
cancer 162 malignant tumor, malignant neoplasm, primary cancer
nephroblastoma 2154 adult renal Wilms' tumor, adult nephroblastoma, childhood renal Wilms' cancer, renal Wilms tumor