APAF1 Back

apoptotic peptidase activating factor 1

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NCBI Description of APAF1

This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms.

Community Annotation of APAF1 Add / Edit APAF1: 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).


APAF1 is highly significantly mutated in
APAF1 is significantly mutated in
APAF1 is near significance in
14 patients (5%)

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

Data details

Mutation list for APAF1