Gene content    
APAF1 ( by HUGO)
Apoptotic Peptidase Activating Factor 1
Tumor suppressor gene
Apoptotic Peptidase Activating Factor 1
APAF-1
Apoptotic Peptidase Activating Factor
Apoptotic Protease Activating Factor
CED4
Apoptotic Protease-Activating Factor 1
KIAA0413
NCBI: 12q23    Ensembl: 12q23.1
APAF_HUMANSize: 1248 amino acidsMass: 141840 Da

  • Subunit: Monomer. Oligomerizes to a heptameric ring, known as the apoptosome, upon binding of cytochrome c and dATP. Oligomeric Apaf-1 and pro-caspase-9 bind to each other via their respective NH2-terminal CARD domains and consecutively mature caspase-9 is released from the complex. Pro-caspase-3 is recruited into the Apaf-1-pro-caspase-9 complex via interaction with pro-caspase-9. Interacts with APIP. Interacts (via CARD and NACHT domains) with NAIP/BIRC1 (via NACHT domain) Miscellaneous: Physiological concentrations of calcium ions negatively affect the assembly of apoptosome by inhibiting nucleotide exchange in the monomeric form Sequence caution: Sequence=AAK28401.1; Type=Frameshift; Positions=108; Sequence=BAA24843.2; Type=Erroneous initiation; Selected PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for APAF1 (see all 8): 1C15 (3D) [IMAGE] 1CWW (3D) [IMAGE] 1CY5 (3D) [IMAGE] 1Z6T (3D) [IMAGE] 2P1H (3D) [IMAGE] 2YGS (3D) [IMAGE]
  • Tissue specificity: Ubiquitous. Highest levels of expression in adult spleen and peripheral blood leukocytes, and in fetal brain, kidney and lung. Isoform 1 is expressed in heart, kidney and liver [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including APAF1 (see
  • Function:
    UniProtKB/Swiss-Prot Summary: APAF_HUMAN, O14727 Function: Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis
  • Similarity:
    Contains 1 CARD domain
                          
    Contains 1 NB-ARC domain
                          
    Contains 15 WD repeats [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR000767Disease_RDisease resistance proteinFamily
    IPR001315CARDCaspase RecruitmentDomain
    IPR001680WD40_repeatWD-40 repeatRepeat
    IPR002182NB-ARCNB-ARCDomain
    IPR011029DEATH-like_domDEATH-likeDomain
    BlocksIPB000767Disease resistance protein signatureDisease resistance protein signature
    IPB001315CARD interaction domainCARD interaction domain
    IPB001680G-protein beta WD-40 repeat signatureG-protein beta WD-40 repeat signature
    IPB002182NB-ARC domainNB-ARC domain

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c IDA GOA 9267021
    nervous system development TAS GOA 9753320
    positive regulation of apoptotic process TAS GOA 18309324
    regulation of apoptotic process TAS GOA 10441496
    Cellular Component apoptosome TAS GOA 18309324
    extracellular vesicular exosome IDA GOA 19056867
    Molecular Function cysteine-type endopeptidase activator activity involved in apoptotic process NAS GOA 15009102
    nucleotide binding TAS GOA 10383829
    protein binding IPI GOA 10206961

    APAF1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene