Reactome: A Curated Pathway Database

Signaling by NOTCH1 PEST Domain Mutants in Cancer (R-HSA-2644602) [Homo sapiens]


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).

Name Identifier Synonyms
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]