HUMAN:APAF

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	APAF1 (synonyms: KIAA0413)
Protein Name(s)	Apoptotic protease-activating factor 1 APAF-1
External Links
UniProt	O14727
EMBL	AF013263 AJ243003 AJ243004 AJ243005 AJ243006 AJ243007 AJ243008 AJ243009 AJ243010 AJ243011 AJ243048 AJ243107 AF134397 AF149794 AB007873 AB103079 CH471054 BC136531 BC136532 AJ133643 AJ133644 AJ133645 AF248734
CCDS	CCDS55862.1 CCDS55863.1 CCDS9069.1 CCDS9070.1 CCDS9071.1
PIR	T03818
RefSeq	NP_001151.1 NP_037361.1 NP_863651.1 NP_863658.1 NP_863659.1
UniGene	Hs.552567
PDB	1C15 1CWW 1CY5 1Z6T 2P1H 2YGS 3J2T 3JBT 3YGS 4RHW
PDBsum	1C15 1CWW 1CY5 1Z6T 2P1H 2YGS 3J2T 3JBT 3YGS 4RHW
ProteinModelPortal	O14727
SMR	O14727
BioGrid	106814
DIP	DIP-27624N
IntAct	O14727
MINT	MINT-96751
STRING	9606.ENSP00000448165
BindingDB	O14727
ChEMBL	CHEMBL1795093
DrugBank	DB00171
iPTMnet	O14727
PhosphoSite	O14727
BioMuta	APAF1
MaxQB	O14727
PaxDb	O14727
PRIDE	O14727
Ensembl	ENST00000333991 ENST00000357310 ENST00000359972 ENST00000547045 ENST00000550527 ENST00000551964 ENST00000552268
GeneID	317
KEGG	hsa:317
UCSC	uc001tfy.3 uc001tfz.3 uc001tga.3 uc001tgb.3 uc001tgc.3
CTD	317
GeneCards	APAF1
HGNC	HGNC:576
HPA	CAB069399 HPA031373
MIM	602233
neXtProt	NX_O14727
PharmGKB	PA24868
eggNOG	KOG4155 KOG4658 ENOG410XP3K
GeneTree	ENSGT00810000125363
HOVERGEN	HBG018730
InParanoid	O14727
KO	K02084
OMA	ETKKVCK
OrthoDB	EOG7XWPMS
PhylomeDB	O14727
TreeFam	TF323866
Reactome	R-HSA-111458 R-HSA-111459
SABIO-RK	O14727
SignaLink	O14727
EvolutionaryTrace	O14727
GeneWiki	APAF1
GenomeRNAi	317
NextBio	1287
PMAP-CutDB	O14727
PRO	PR:O14727
Proteomes	UP000005640
Bgee	O14727
ExpressionAtlas	O14727
Genevisible	O14727
GO	GO:0043293 GO:0005829 GO:0070062 GO:0005634 GO:0043531 GO:0005524 GO:0008656 GO:0000166 GO:0006919 GO:0008635 GO:0007568 GO:0006915 GO:0010659 GO:0030154 GO:0071560 GO:0030900 GO:0034349 GO:0097193 GO:0070059 GO:0007399 GO:0001843 GO:0051402 GO:0043065 GO:2001235 GO:0012501 GO:0051260 GO:1902510 GO:0042981 GO:0072432 GO:0001666 GO:0007584
Gene3D	1.10.533.10 2.130.10.10 3.40.50.300
InterPro	IPR017251 IPR001315 IPR011029 IPR020472 IPR002182 IPR027417 IPR015943 IPR001680 IPR019775 IPR017986
Pfam	PF00619 PF00931 PF00400
PIRSF	PIRSF037646
PRINTS	PR00320
SMART	SM00320
SUPFAM	SSF47986 SSF50978 SSF52540
PROSITE	PS50209 PS00678 PS50082 PS50294

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
part_of	GO:0032991	protein-containing complex	PMID:11821383^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19056867^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
part_of	GO:0043293	apoptosome	PMID:21827945^[3]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	PMID:15009102^[4]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	PMID:9267021^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	PMID:21827945^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0043293	apoptosome	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000521068 RGD:620575 UniProtKB:O14727	C		Seeded From UniProt	complete
enables	GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1306796 PANTHER:PTN001108738	F		Seeded From UniProt	complete
involved_in	GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0263864 PANTHER:PTN001108738 UniProtKB:O14727	P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1306796 PANTHER:PTN001108738	C		Seeded From UniProt	complete
involved_in	GO:2001235	positive regulation of apoptotic signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
involved_in	GO:1902510	regulation of apoptotic DNA fragmentation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
involved_in	GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
involved_in	GO:0051402	neuron apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	F		Seeded From UniProt	complete
involved_in	GO:0030900	forebrain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
enables	GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	F		Seeded From UniProt	complete
involved_in	GO:0007420	brain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
involved_in	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	C		Seeded From UniProt	complete
involved_in	GO:0001843	neural tube closure	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88879 ensembl:ENSMUSP00000020157	P		Seeded From UniProt	complete
involved_in	GO:0071560	cellular response to transforming growth factor beta stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
involved_in	GO:0051260	protein homooligomerization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
part_of	GO:0043293	apoptosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	C		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	F		Seeded From UniProt	complete
enables	GO:0031072	heat shock protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	F		Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
involved_in	GO:0010659	cardiac muscle cell apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
involved_in	GO:0007584	response to nutrient	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
involved_in	GO:0007568	aging	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
involved_in	GO:0007420	brain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	C		Seeded From UniProt	complete
involved_in	GO:0001822	kidney development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
involved_in	GO:0001666	response to hypoxia	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPV5 ensembl:ENSRNOP00000010869	P		Seeded From UniProt	complete
involved_in	GO:0042981	regulation of apoptotic process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001315	P		Seeded From UniProt	complete
part_of	GO:0043293	apoptosome	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR017251	C		Seeded From UniProt	complete
enables	GO:0043531	ADP binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002182	F		Seeded From UniProt	complete
involved_in	GO:0097190	apoptotic signaling pathway	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR017251	P		Seeded From UniProt	complete
enables	GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	PMID:9267021^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0007399	nervous system development	PMID:9753320^[7]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006915	apoptotic process	PMID:9753320^[7]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:9267021^[5] Reactome:R-HSA-9627089 Reactome:R-HSA-9627078 Reactome:R-HSA-9627056 Reactome:R-HSA-9007496 Reactome:R-HSA-6805507 Reactome:R-HSA-6804596 Reactome:R-HSA-6791348 Reactome:R-HSA-114261 Reactome:R-HSA-114259 Reactome:R-HSA-114256 Reactome:R-HSA-114254 Reactome:R-HSA-114252	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0097193	intrinsic apoptotic signaling pathway	PMID:18309324^[8]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0072432	response to G1 DNA damage checkpoint signaling	PMID:18309324^[8]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0043293	apoptosome	PMID:18309324^[8]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0043065	positive regulation of apoptotic process	PMID:18309324^[8]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	has_participant:(UniProtKB:P99999)\|has_participant:(UniProtKB:P55211)	Seeded From UniProt	complete
involved_in	GO:0042981	regulation of apoptotic process	PMID:10441496^[9] Reactome:R-HSA-5633008	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	PMID:10383829^[10]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:1904813	ficolin-1-rich granule lumen	Reactome:R-HSA-6800434	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0070317	negative regulation of G0 to G1 transition	Reactome:R-HSA-8953750	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043312	neutrophil degranulation	Reactome:R-HSA-6798695	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0034774	secretory granule lumen	Reactome:R-HSA-6798748	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	Reactome:R-HSA-111459	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	Reactome:R-HSA-6800434 Reactome:R-HSA-6798748	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F		Seeded From UniProt	complete
involved_in	GO:0006915	apoptotic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0053	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Razmara, M et al. (2002) CARD-8 protein, a new CARD family member that regulates caspase-1 activation and apoptosis. J. Biol. Chem. 277 13952-8 PubMed GONUTS page
↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
↑ ^3.0 ^3.1 Yuan, S et al. (2011) The holo-apoptosome: activation of procaspase-9 and interactions with caspase-3. Structure 19 1084-96 PubMed GONUTS page
↑ Baldi, A et al. (2004) Analysis of APAF-1 expression in human cutaneous melanoma progression. Exp. Dermatol. 13 93-7 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Zou, H et al. (1997) Apaf-1, a human protein homologous to C. elegans CED-4, participates in cytochrome c-dependent activation of caspase-3. Cell 90 405-13 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^7.0 ^7.1 Cecconi, F et al. (1998) Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development. Cell 94 727-37 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 ^8.3 Galluzzi, L et al. (2008) No death without life: vital functions of apoptotic effectors. Cell Death Differ. 15 1113-23 PubMed GONUTS page
↑ Hahn, C et al. (1999) Three new types of Apaf-1 in mammalian cells. Biochem. Biophys. Res. Commun. 261 746-9 PubMed GONUTS page
↑ Drosopoulos, NE et al. (1999) A soluble version of the receptor-like protein tyrosine phosphatase kappa stimulates neurite outgrowth via a Grb2/MEK1-dependent signaling cascade. Mol. Cell. Neurosci. 13 441-9 PubMed GONUTS page

[PMID:11821383-1] Razmara, M et al. (2002) CARD-8 protein, a new CARD family member that regulates caspase-1 activation and apoptosis. J. Biol. Chem. 277 13952-8 PubMed GONUTS page

[PMID:19056867-2] Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page

[PMID:21827945-3] 3.0 ^3.1 Yuan, S et al. (2011) The holo-apoptosome: activation of procaspase-9 and interactions with caspase-3. Structure 19 1084-96 PubMed GONUTS page

[PMID:15009102-4] Baldi, A et al. (2004) Analysis of APAF-1 expression in human cutaneous melanoma progression. Exp. Dermatol. 13 93-7 PubMed GONUTS page

[PMID:9267021-5] 5.0 ^5.1 ^5.2 Zou, H et al. (1997) Apaf-1, a human protein homologous to C. elegans CED-4, participates in cytochrome c-dependent activation of caspase-3. Cell 90 405-13 PubMed GONUTS page

[PMID:21873635-6] 6.0 ^6.1 ^6.2 ^6.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:9753320-7] 7.0 ^7.1 Cecconi, F et al. (1998) Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development. Cell 94 727-37 PubMed GONUTS page

[PMID:18309324-8] 8.0 ^8.1 ^8.2 ^8.3 Galluzzi, L et al. (2008) No death without life: vital functions of apoptotic effectors. Cell Death Differ. 15 1113-23 PubMed GONUTS page

[PMID:10441496-9] Hahn, C et al. (1999) Three new types of Apaf-1 in mammalian cells. Biochem. Biophys. Res. Commun. 261 746-9 PubMed GONUTS page

[PMID:10383829-10] Drosopoulos, NE et al. (1999) A soluble version of the receptor-like protein tyrosine phosphatase kappa stimulates neurite outgrowth via a Grb2/MEK1-dependent signaling cascade. Mol. Cell. Neurosci. 13 441-9 PubMed GONUTS page

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HUMAN:APAF

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