APAF1
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, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| apoptotic peptidase activating factor 1 | MIM:602233 | Ensembl:ENSG00000120868 | HGNC:HGNC:576 | PA24868 | 12q23.1 |
GO terms in APAF1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0000166 | nucleotide binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0008656 | cysteine-type endopeptidase activator activity involved in apoptotic process |
| MF | NAS | GO:0008656 | cysteine-type endopeptidase activator activity involved in apoptotic process |
| MF | IEA | GO:0031072 | heat shock protein binding |
| MF | IEA | GO:0042802 | identical protein binding |
| MF | IEA | GO:0043531 | ADP binding |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IEA | GO:0005634 | nucleus |
| CC | IBA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | TAS | GO:0034774 | secretory granule lumen |
| CC | IBA | GO:0043293 | apoptosome |
| CC | IDA | GO:0043293 | apoptosome |
| CC | TAS | GO:0043293 | apoptosome |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:1904813 | ficolin-1-rich granule lumen |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0001843 | neural tube closure |
| BP | TAS | GO:0006915 | apoptotic process |
| BP | IDA | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process |
| BP | TAS | GO:0007399 | nervous system development |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0007584 | response to nutrient |
| BP | IBA | GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c |
| BP | IDA | GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c |
| BP | IEA | GO:0010659 | cardiac muscle cell apoptotic process |
| BP | IEA | GO:0030154 | cell differentiation |
| BP | IEA | GO:0030900 | forebrain development |
| BP | IEA | GO:0034349 | glial cell apoptotic process |
| BP | TAS | GO:0042981 | regulation of apoptotic process |
| BP | TAS | GO:0043065 | positive regulation of apoptotic process |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IEA | GO:0051260 | protein homooligomerization |
| BP | IEA | GO:0051402 | neuron apoptotic process |
| BP | IEA | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress |
| BP | TAS | GO:0070317 | negative regulation of G0 to G1 transition |
| BP | IEA | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | TAS | GO:0072432 | response to G1 DNA damage checkpoint signaling |
| BP | TAS | GO:0097193 | intrinsic apoptotic signaling pathway |
| BP | IEA | GO:1902510 | regulation of apoptotic DNA fragmentation |
| BP | IEA | GO:2001235 | positive regulation of apoptotic signaling pathway |
Gene expression in normal tissue: APAF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in APAF1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP1530 | miRNA Regulation of DNA Damage Response |
| wikipathways | WP1772 | Apoptosis Modulation and Signaling |
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP231 | TNF alpha Signaling Pathway |
| wikipathways | WP2371 | Parkinsons Disease Pathway |
| wikipathways | WP2447 | Amyotrophic lateral sclerosis (ALS) |
| wikipathways | WP2507 | Nanomaterial induced apoptosis |
| wikipathways | WP2512 | Integrated Lung Cancer Pathway |
| wikipathways | WP254 | Apoptosis |
| wikipathways | WP314 | Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation |
| wikipathways | WP3639 | Apoptotic Signaling Pathway |
| wikipathways | WP3802 | TP53 Regulates Transcription of Cell Death Genes |
| wikipathways | WP384 | Apoptosis Modulation by HSP70 |
| wikipathways | WP3941 | Oxidative Damage |
| wikipathways | WP3980 | Protein alkylation leading to liver fibrosis |
| wikipathways | WP3982 | miRNA regulation of p53 pathway in prostate cancer |
| wikipathways | WP707 | DNA Damage Response |
| kegg | hsa04115 | p53 signaling pathway - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa04215 | Apoptosis - multiple species - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| kegg | hsa05012 | Parkinson,s disease - Homo sapiens (human) |
| kegg | hsa05014 | Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human) |
| kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
| kegg | hsa05134 | Legionellosis - Homo sapiens (human) |
| kegg | hsa05152 | Tuberculosis - Homo sapiens (human) |
| kegg | hsa05161 | Hepatitis B - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05222 | Small cell lung cancer - Homo sapiens (human) |
| pid | caspase_pathway | Caspase Cascade in Apoptosis |
| pid | e2f_pathway | E2F transcription factor network |
| pid | hivnefpathway | HIV-1 Nef: Negative effector of Fas and TNF-alpha |
| pid | p53downstreampathway | Direct p53 effectors |
| pid | p75ntrpathway | p75(NTR)-mediated signaling |
| biocarta | caspasepathway | caspase cascade in apoptosis |
| biocarta | chemicalpathway | apoptotic signaling in response to dna damage |
| biocarta | hivnefpathway | hiv-1 nef: negative effector of fas and tnf |
| biocarta | hsp27pathway | stress induction of hsp regulation |
| biocarta | mitochondriapathway | role of mitochondria in apoptotic signaling |
| biocarta | plk3pathway | regulation of cell cycle progression by plk3 |
| biocarta | tffpathway | trefoil factors initiate mucosal healing |
| biocarta | wnvpathway | west nile virus |
| reactome | R-HSA-109581 | Apoptosis |
| reactome | R-HSA-109606 | Intrinsic Pathway for Apoptosis |
| reactome | R-HSA-111458 | Formation of apoptosome |
| reactome | R-HSA-111459 | Activation of caspases through apoptosome-mediated cleavage |
| reactome | R-HSA-111461 | Cytochrome c-mediated apoptotic response |
| reactome | R-HSA-111471 | Apoptotic factor-mediated response |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-5357801 | Programmed Cell Death |
| reactome | R-HSA-5633008 | TP53 Regulates Transcription of Cell Death Genes |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-6803207 | TP53 Regulates Transcription of Caspase Activators and Caspases |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953750 | Transcriptional Regulation by E2F6 |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD441 | TW 37 | 1 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD158 | NSC141540 | 4 |
| iGMDRD300 | Tozasertib | 3 |
| iGMDRD887 | Compound 23 citrate | 3 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD662 | JQ-1 | 3 |
| iGMDRD670 | ML 210 | 3 |
| iGMDRD779 | PRL-3 Inhibitor I | 3 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD126 | Tipifarnib | 1 |
| iGMDRD84 | Lovastatin acid | 1 |
| iGMDRD177 | Teniposide | 3 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD211 | (1S,3R)-RSL3 | 3 |
| iGMDRD297 | Austocystin D | 1 |
| iGMDRD201 | SKI II | 1 |
| iGMDRD71 | Sparfosic acid | 3 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD57 | Chloropentafluorobenzene | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in APAF1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.