APAF1

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

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
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q23.1 Start 98,645,141 bp[1] End 98,735,433 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C2|10 45.47 cM Start 90,989,311 bp[2] End 91,082,770 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • heat shock protein binding • ADP binding • GO:0001948 protein binding • identical protein binding • ATP binding • nucleotide binding • cysteine-type endopeptidase activator activity involved in apoptotic process Cellular component • cytoplasm • cytosol • extracellular exosome • cell nucleus • apoptosome • extracellular region • secretory granule lumen • ficolin-1-rich granule lumen • macromolecular 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 • aging • 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
Species	Human	Mouse
Entrez	317	11783
Ensembl	ENSG00000120868	ENSMUSG00000019979
UniProt	O14727	O88879
RefSeq (mRNA)	NM_001160 NM_013229 NM_181861 NM_181868 NM_181869	NM_001042558 NM_001282947 NM_009684
RefSeq (protein)	NP_001151 NP_037361 NP_863651 NP_863658 NP_863659	NP_001036023 NP_001269876 NP_033814
Location (UCSC)	Chr 12: 98.65 – 98.74 Mb	Chr 10: 90.99 – 91.08 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

FunctionEdit

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.^[8] Activated caspase-9 stimulates the subsequent caspase cascade that commits the cell to apoptosis.

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

StructureEdit

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.^[9]

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.