Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer

Stable Identifier
R-HSA-2894858
Type
Pathway
Species
Homo sapiens
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Mutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increase in NOTCH1 transcriptional activity and PEST domain mutations alone result in up to ~2-fold increase in NOTCH1 transcriptional activity, in cis mutations of HD and PEST domains act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold (Weng et al. 2004).

Literature References
PubMed ID Title Journal Year
15472075 Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia

Weng, AP, Ferrando, AA, Lee, W, Morris JP, 4th, Silverman, LB, Sanchez-Irizarry, C, Blacklow, SC, Look, AT, Aster, JC

Science 2004
Participants
Participant Of
Disease
Name Identifier Synonyms
T-cell leukemia 715
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Authored
Reviewed
Created