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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Nameapoptotic peptidase activating factor 1
OMIM IDMIM:602233
Ensembl IDEnsembl:ENSG00000120868
HGNC IDHGNC:HGNC:576
PHARMGKB IDPA24868
Map Location12q23.1

Gene Categories:

PROTEASEDRUGGABLE GENOME

GO terms in APAF1


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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
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Gene expression in normal tissue: APAF1

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 51LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 6BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 2

Gene-drug pathway distribution

undefined18Apoptosis regulation2Ferroptosis1Chromatin other1DNA replication1Mitosis1

Pathways in APAF1


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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)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD434 BMS-536924 3
iGMDRD318 PAC-1 1
iGMDRD441 TW 37 1
iGMDRD271 Brefeldin A 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in APAF1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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