Reactome: A Curated Pathway Database

Signaling by NOTCH1 PEST Domain Mutants in Cancer (R-HSA-2644602)

Species Homo sapiens

Summation

NOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prolonged half-life of the intracellular NOTCH1 fragment, NICD1, and increased NICD1 transcriptional activity (Weng et al. 2004, Thompson et al. 2007, O'Neil et al. 2007).

Locations in the PathwayBrowser
Diseases
Name Identifier Synonyms
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]