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APAF1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1C15, 1CWW, 1CY5, 1Z6T, 2P1H, 2YGS, 3J2T, 3YGS, 4RHW, 3JBT
Identifiers
Aliases	APAF1, APAF-1, CED4, apoptotic peptidase activating factor 1
External IDs	OMIM: 602233; MGI: 1306796; HomoloGene: 7626; GeneCards: APAF1; OMA:APAF1 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	98,735,433 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	91,082,770 bp
RNA expression pattern
	Top expressed in
	monocyte; ; ventricular zone; ; blood; ; bone marrow cells; ; ganglionic eminence; ; epithelium of colon; ; granulocyte; ; Achilles tendon; ; trabecular bone; ; testicle;
	Top expressed in
	granulocyte; ; dermis; ; migratory enteric neural crest cell; ; ureter; ; jejunum; ; vas deferens; ; otic vesicle; ; stroma of bone marrow; ; gastrula; ; ileum;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	heat shock protein binding; ADP binding; protein binding; identical protein binding; ATP binding; nucleotide binding; cysteine-type endopeptidase activator activity involved in apoptotic process;
Cellular component	cytoplasm; cytosol; extracellular exosome; nucleus; apoptosome; extracellular region; secretory granule lumen; ficolin-1-rich granule lumen; protein-containing complex;
Biological process	cellular response to transforming growth factor beta stimulus; neuron apoptotic process; regulation of apoptotic process; cell differentiation; response to hypoxia; response to nutrient; response to G1 DNA damage checkpoint signaling; ageing; positive regulation of apoptotic signaling pathway; glial cell apoptotic process; nervous system development; multicellular organism development; cardiac muscle cell apoptotic process; intrinsic apoptotic signaling pathway; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; neural tube closure; brain development; positive regulation of apoptotic process; apoptotic signaling pathway; forebrain development; regulation of apoptotic DNA fragmentation; protein homooligomerization; activation of cysteine-type endopeptidase activity involved in apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; apoptotic process; neutrophil degranulation; negative regulation of G0 to G1 transition; kidney development;
	Sources:Amigo / QuickGO
Orthologs
	317
	11783
	ENSG00000120868
	ENSMUSG00000019979
	O14727
	O88879
	NM_001160; NM_013229; NM_181861; NM_181868; NM_181869
	NM_001042558; NM_001282947; NM_009684
	NP_001151; NP_037361; NP_863651; NP_863658; NP_863659
	NP_001036023; NP_001269876; NP_033814
	Wikidata
View/Edit Human	View/Edit Mouse

Apoptotic protease activating factor 1, also known as APAF1, is a human homolog of C. elegans CED-4 gene.^[5]^[6]^[7]

Function

The protein was identified in the laboratory of Xiaodong Wang as an activator of caspase-3 in the presence of cytochromeC and dATP.^[8] This gene encodes a cytoplasmic protein that forms one of the central hubs in the apoptosis regulatory network. This protein contains (from the N terminal) a caspase recruitment domain (CARD), an ATPase domain (NB-ARC), few short helical domains and then several copies of the WD40 repeat domain. Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves Procaspase-9 protein, releasing its mature, activated form. The precise mechanism for this reaction is still debated though work published by Guy Salvesen suggests that the apoptosome may induce caspase-9 dimerization and subsequent autocatalysis.^[9] Activated caspase-9 stimulates the subsequent caspase cascade that commits the cell to apoptosis.^{[citation needed]}

Alternative splicing results in several transcript variants encoding different isoforms.^[5]

Structure

APAF1 contains a CARD domain with a Greek key motif composed of six helices, a Rossman fold nucleotide binding domains, a short helical motif and a winged-helix domain.^[10]