Entrez gene ID | | 317 |
Official gene symbol | | APAF1 |
Full name | | apoptotic peptidase activating factor 1 |
Aliases | | ,APAF-1,CED4,DKFZp781B1145, |
Gene summary | | 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] |
Location | | Chromosome: 12 Locus: 12q23 |
Gene position | | 99039078 - 99129211 Map Viewer |
Gene orientation | | plus |
Gene size | | 90134 bp |
Gene sequence |
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OMIM ID | | 602233 |