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Gene : APAF1 Homo sapiens

Name  ? apoptotic peptidase activating factor 1 Cytological Location  12q23.1
Brief Description  apoptotic peptidase activating factor 1
Description  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]
  • synonyms:
  • APAF-1,
  • apoptotic peptidase activating factor,
  • APAF1,
  • HGNC:576,
  • apoptotic protease activating factor,
  • APAF-1,
  • AF013263,
  • CED4,
  • CED4,
  • NM_181861.1,
  • OTTHUMG00000170214,
  • uc001tfz.4
  • identifiers:
  • 317,
  • ENSG00000120868,
  • APAF1

Genome feature

Region: gene ? Length: 90293  
Location: 12:98645141-98735433 Cyto location: 12q23.1

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results