Reactome: A Curated Pathway Database

Truncated AMER1 mutants destabilize the destruction complex

Stable Identifier
R-HSA-4839746
Type
Reaction [FailedReaction]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Summation

AMER1/WTX is a known component of the destruction complex and interacts directly with beta-catenin through the C-terminal half (Major et al, 2007). siRNA depletion of AMER1 in mammalian cells stabilizes cellular beta-catenin levels and increases the expression of a beta-catenin-dependent reporter gene, suggesting that AMER1 is a tumor suppressor gene (Major et al, 2007; reviewed in Huff, 2011). Consistent with this, nonsense and missense mutations that truncate AMER1 and result in loss of the beta-catenin binding region have been identified in Wilms tumor, a pediatric kidney cancer (Ruteshouser et al, 2008; Wegert et al, 2009).

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