Aliases for APAF1 Gene
External Ids for APAF1 Gene
Previous GeneCards Identifiers for APAF1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for APAF1 Gene
APAF1 (Apoptotic Peptidase Activating Factor 1) is a Protein Coding gene. Diseases associated with APAF1 include Cranioectodermal Dysplasia 4 and Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly. Among its related pathways are Activation of BH3-only proteins and Granzyme Pathway. GO annotations related to this gene include identical protein binding and ADP binding. An important paralog of this gene is NLE1.
UniProtKB/Swiss-Prot for APAF1 Gene
Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis.