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 Gene Expression and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include identical protein binding and ADP binding. An important paralog of this gene is WDR5B.
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.