Signaling by AMER1 mutants

Stable Identifier
Homo sapiens
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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
PubMed ID Title Journal Year
23256519 The way Wnt works: Components and mechanism

Wang, X, Wallace, HA, Page-McCaw, A, Lee, E, Thorne, CA, Chen, TW, Saito-Diaz, K

Growth Factors 2013
21248786 Wilms' tumours: about tumour suppressor genes, an oncogene and a chameleon gene

Huff, V

Nat. Rev. Cancer 2011
17510365 Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling

Berndt, JD, Major, MB, Maccoss, MJ, Yi, X, Camp, ND, Biechele, TL, Hubbert, C, Gingras, AC, Angers, S, Zheng, N, Goldenberg, SJ, Moon, RT

Science 2007
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
kidney cancer DOID:263 malignant neoplasm of kidney except pelvis, malignant tumour of kidney, renal cancer
nephroblastoma DOID:2154 adult renal Wilms' tumor, adult nephroblastoma, childhood renal Wilms' cancer, renal Wilms tumor
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