| URN | urn:agi-llid:317 |
|---|---|
| Connectivity | 189 |
| Name | Apaf1 |
| Description | apoptotic peptidase activating factor 1 |
| Notes | 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. |
| Pathway | Apoptosis |
|---|---|
| intrinsic apoptotic pathway |
| GO Molecular Function | nucleotide binding |
|---|---|
| ATP binding | |
| peptidase activity | |
| apoptotic protease activator activity | |
| caspase activator activity |
| GO Cellular Component | intracellular |
|---|---|
| soluble fraction | |
| cytoplasm | |
| cytosol | |
| apoptosome | |
| nucleus |
| GO Biological Process | multicellular organismal development |
|---|---|
| aging | |
| forebrain development | |
| cell differentiation | |
| neural tube closure | |
| nervous system development | |
| brain development | |
| induction of apoptosis | |
| regulation of apoptosis | |
| activation of caspase activity | |
| activation of caspase activity by cytochrome c | |
| DNA fragmentation involved in apoptotic nuclear change | |
| cellular response to transforming growth factor beta stimulus | |
| neuron apoptosis | |
| apoptosis | |
| glial cell apoptosis | |
| cardiac muscle cell apoptosis | |
| response to nutrient | |
| response to hypoxia | |
| defense response | |
| protein homooligomerization |
| Ariadne Ontology | APAF1 |
|---|
| Group | APAF1 |
|---|---|
| multicellular organismal development | |
| aging | |
| forebrain development | |
| cell differentiation | |
| neural tube closure | |
| nervous system development | |
| brain development | |
| induction of apoptosis | |
| regulation of apoptosis | |
| activation of caspase activity | |
| activation of caspase activity by cytochrome c | |
| DNA fragmentation involved in apoptotic nuclear change | |
| cellular response to transforming growth factor beta stimulus | |
| neuron apoptosis | |
| apoptosis | |
| glial cell apoptosis | |
| cardiac muscle cell apoptosis | |
| response to nutrient | |
| response to hypoxia | |
| defense response | |
| protein homooligomerization | |
| nucleotide binding | |
| ATP binding | |
| peptidase activity | |
| apoptotic protease activator activity | |
| caspase activator activity | |
| intracellular | |
| soluble fraction | |
| cytoplasm | |
| cytosol | |
| apoptosome | |
| nucleus |
| MedScan ID | 317 |
|---|
| Hugo ID | 576 |
|---|
| Human chromosome position | 12q23 |
|---|
| LocusLink ID | 317 |
|---|---|
| 11783 | |
| 78963 |
| Alias | CED4 |
|---|---|
| APAF-1 | |
| DKFZp781B1145 | |
| apoptotic protease-activating factor 1 | |
| apoptotic protease activating factor 1 | |
| fog | |
| Apaf1l | |
| KIAA0413 | |
| mKIAA0413 | |
| 6230400I06Rik | |
| forebrain overgrowth | |
| 6230400I06 | |
| Apaf I | |
| Apaf1 | |
| Apaf-1-related killer | |
| apoptotic peptidase activating factor 1 | |
| apoptotic peptidase activating factor I | |
| apoptotic protease activating factor | |
| apoptotic protease activating factor I | |
| forebrain overgrowth mutant | |
| forebrain overgrowth mutation | |
| RIKEN cDNA 6230400I06 gene |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 602233 |
|---|
| Mouse chromosome position | 10 48.0 cM |
|---|
| GO ID | 0005524 |
|---|---|
| 0008656 | |
| 0000166 | |
| 0006309 | |
| 0008635 | |
| 0006915 | |
| 0006952 | |
| 0030900 | |
| 0007275 | |
| 0007399 | |
| 0001843 | |
| 0051402 | |
| 0042981 | |
| 0005737 | |
| 0005829 | |
| 0005622 | |
| 0005634 | |
| 0005625 | |
| 0016505 | |
| 0008233 | |
| 0006919 | |
| 0007420 | |
| 0010659 | |
| 0071560 | |
| 0006917 | |
| 0051260 | |
| 0043293 | |
| 0007568 | |
| 0030154 | |
| 0034349 | |
| 0001666 | |
| 0007584 | |
| 0005515 | |
| 0042802 | |
| 0006508 | |
| 0016020 | |
| 0004274 |
| Rat chromosome position | 7q13 |
|---|
| Swiss-Prot Accession | O14727 |
|---|---|
| A2RRK8 | |
| Q5DU30 | |
| O88879 | |
| Q4VZG8 | |
| Q80VR5 | |
| Q9EPV5 | |
| Q8VI66 | |
| B2RMX8 | |
| O43297 | |
| Q7Z438 | |
| Q9BXZ6 | |
| Q9UBZ5 | |
| Q9UGN8 | |
| Q9UGN9 | |
| Q9UGP0 | |
| Q9UJ58 | |
| Q9UJ59 | |
| Q9UJ60 | |
| Q9UJ61 | |
| Q9UJ62 | |
| Q9UJ63 | |
| Q9UJ64 | |
| Q9UJ65 | |
| Q9UJ66 | |
| Q9UJ67 | |
| Q9UNC9 |
| PIR ID | T03818 |
|---|
| Unigene ID | Hs.724521 |
|---|---|
| Mm.220289 | |
| Rn.64522 | |
| Hs.552567 | |
| Hs.708112 |
| KEGG ID | hsa:317 |
|---|---|
| mmu:11783 | |
| rno:78963 |
| Swiss-Prot ID | APAF_HUMAN |
|---|---|
| APAF_RAT | |
| Q5DU30_MOUSE | |
| A2RRK8_MOUSE | |
| B2RMX8_HUMAN |
| Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00023630 |
|---|---|
| IPI00217460 | |
| IPI00217461 | |
| IPI00217462 | |
| IPI00217463 | |
| IPI00375875 | |
| IPI00324110 | |
| IPI00654978 | |
| IPI00791928 | |
| IPI00792802 | |
| IPI00135366 | |
| IPI00882037 | |
| IPI00457803 |
| Homologene ID | 7626 |
|---|
| RGD ID | 620575 |
|---|
| MGI ID | 1306796 |
|---|