Notch homolog 1, translocation-associated (Drosophila)

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NCBI Description of NOTCH1

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development.

Community Annotation of NOTCH1 Add / Edit NOTCH1: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


NOTCH1 is highly significantly mutated in
Head and neck
65 patients (16%)
NOTCH1 is significantly mutated in
combined cohort
133 patients (2%)
NOTCH1 is near significance in
Lung squamous cell carcinoma
14 patients (7%)
Diffuse large B-cell lymphoma
3 patients (5%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for NOTCH1