NOTCH1 t(7;9)(NOTCH1:M1580_K2555) is cleaved to produce NEXT1

Stable Identifier
R-HSA-2666278
Type
Reaction [transition]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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NOTCH1 t(7;9)(NOTCH1:M1580_K2555) translocation mutant is susceptible to ADAM10/17-mediated cleavage in the absence of ligand binding (Ellisen et al. 1991).
Literature References
PubMed ID Title Journal Year
1831692 TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

Smith, SD, Sklar, J, Ellisen, LW, Bird, J, West, DC, Soreng, AL, Reynolds, TC

Cell 1991
Participants
Participates
Catalyst Activity

metallopeptidase activity of ADAM10/17:Zn2+ [plasma membrane]

Functional status

Gain of function of NOTCH1 t(7;9)(NOTCH1:M1580 K2555) [plasma membrane]

Disease Entity
Status
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
T-cell acute lymphoblastic leukemia DOID:5603
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Reviewed
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