Homo sapiens Protein: APAF1
Summary
InnateDB Protein IDBP-592693.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APAF1
Protein Name apoptotic peptidase activating factor 1
Synonyms APAF-1; CED4;
Species Homo sapiens
Ensembl Protein ENSP00000448165
InnateDB Gene IDBG-52364 (APAF1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:10393175, ECO:0000269PubMed:12804598}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:12804598}.
Disease Associations
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.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 37 [view]
Protein-Protein 37 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0042802 identical protein binding
GO:0043531 ADP binding
Biological Process
GO:0001843 neural tube closure
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0006952 defense response
GO:0007275 multicellular organismal development
GO:0007399 nervous system development
GO:0007420 brain development
GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
GO:0030900 forebrain development
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0051402 neuron apoptotic process
GO:0072432 response to G1 DNA damage checkpoint signaling
GO:0097193 intrinsic apoptotic signaling pathway
GO:1902510 regulation of apoptotic DNA fragmentation
GO:2001235 positive regulation of apoptotic signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005829 cytosol
GO:0043293 apoptosome
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001315 CARD domain
IPR001680 WD40 repeat
IPR002182 NB-ARC
IPR011029 Death-like domain
IPR017251 Apoptotic protease-activating factor 1
IPR017986 WD40-repeat-containing domain
IPR020472 G-protein beta WD-40 repeat
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00619
PF00400
PF00931
PRINTS PR00320
PIRSF PIRSF037646
SMART SM00114
SM00320
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O14727
PhosphoSite PhosphoSite-O14727
TrEMBL
UniProt Splice Variant
Entrez Gene 317
UniGene Hs.713249
RefSeq NP_863651
HUGO HGNC:576
OMIM 602233
CCDS CCDS9069
HPRD 03755
IMGT
EMBL AB007873 AB103079 AF013263 AF134397 AF149794 AF248734 AJ133643 AJ133644 AJ133645 AJ243003 AJ243004 AJ243005 AJ243006 AJ243007 AJ243008 AJ243009 AJ243010 AJ243011 AJ243048 AJ243107 BC136531 BC136532 CH471054
GenPept AAC51678 AAD34016 AAD38344 AAI36532 AAI36533 AAK28401 BAA24843 BAC77343 CAB55579 CAB55580 CAB55581 CAB55582 CAB55583 CAB55584 CAB55585 CAB55586 CAB55587 CAB55588 CAB56462 CAB65085 CAB65086 CAB65087 EAW97606