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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

APAF1 Gene

protein-coding GIFtS: 71
GCID: GC12P099039

apoptotic peptidase activating factor 1

(Previous names: apoptotic protease activating factor, apoptotic peptidase...)

Explore 66 diseases affiliated with
APAF1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Apoptotic Peptidase Activating Factor 1¹ ²		Apoptotic Protease Activating Factor¹
APAF-1¹ ² ³		Apoptotic Protease-Activating Factor 1²
CED4¹ ²		KIAA0413³
Apoptotic Peptidase Activating Factor¹

External Ids:	HGNC: 576¹	Entrez Gene: 317²	Ensembl: ENSG00000120868⁷	OMIM: 602233⁵	UniProtKB: O14727³

Export aliases for APAF1 gene to outside databases

Previous GC identifers: GC12P098489 GC12P099542 GC12P098971 GC12P097541 GC12P096100

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APAF1:

This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40

domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this

protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its

mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to

apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: 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

Gene Wiki entry for APAF1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APAF1 gene promoter:
HEN1 RORalpha1 Sox5 AP-1 ATF-2 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APAF1 promoter sequence

Search SABiosciences Chromatin IP Primers for APAF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APAF1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q23 Ensembl cytogenetic band: 12q23.1 HGNC cytogenetic band: 12q23

APAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APAF1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P099039: view genomic region (about GC identifiers)

Start:	99,038,919 bp from pter	End:	99,129,211 bp from pter
Size:	90,293 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: APAF_HUMAN, O14727 (See protein sequence)

Recommended Name: Apoptotic protease-activating factor 1

Size: 1248 amino acids; 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)

Subcellular location: Cytoplasm

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;

6/8 PDB 3D structures from and Proteopedia for APAF1 (see all 8):

1C15 (3D)

1CWW (3D)

1CY5 (3D)

1Z6T (3D)

2P1H (3D)

2YGS (3D)

Secondary accessions: B2RMX8 O43297 Q7Z438 Q9BXZ6 Q9UBZ5 Q9UGN8 Q9UGN9 Q9UGP0 Q9UJ58 Q9UJ59 Q9UJ60

Q9UJ61 Q9UJ62 Q9UJ63 Q9UJ64 Q9UJ65 Q9UJ66 Q9UJ67 Q9UNC9

Alternative splicing: 6 isoforms: O14727-1 O14727-2 O14727-3 O14727-4 O14727-5 O14727-6

Explore the universe of human proteins at neXtProt for APAF1: NX_O14727

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O14727

APAF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001151.1 NP_037361.1 NP_863651.1 NP_863658.1 NP_863659.1

ENSEMBL proteins:

ENSP00000448165 ENSP00000353059 ENSP00000450175 ENSP00000448826 ENSP00000448449

ENSP00000449791 ENSP00000448161 ENSP00000349862 ENSP00000341830 ENSP00000334558

Reactome Protein details: O14727
Human Recombinant Protein Products:

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	Enzo Life Sciences proteins for APAF1
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	Novus Biologicals APAF1 Proteins Novus Biologicals APAF1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for APAF1

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005625	soluble fraction	--	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--

APAF1 for ontologies About GeneDecksing

APAF1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of APAF1
	R&D Systems Antibodies for APAF1 (APAF-1)
	Cell Signaling Technology (CST) Antibodies for APAF1 (APAF)
	OriGene Antibodies (see all 3): APAF1 OriGene Custom Antibody Services for APAF1
	GenScript Custom Superior Antibodies Services for APAF1
	Novus Biologicals APAF1 Antibodies
	Abcam antibodies for APAF1
	Uscn Antibodies for APAF1
	ThermoFisher Antibodies for APAF1

Assay Products for APAF1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for APAF1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for APAF1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

APAF1 for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR017251 Apoptotic_pept-activating_1

IPR002182 NB-ARC

IPR019775 WD40_repeat_CS

IPR001680 WD40_repeat

IPR011029 DEATH-like_dom

Graphical View of Domain Structure for InterPro Entry O14727

ProtoNet protein and cluster: O14727

4 Blocks protein families:

IPB000767 Disease resistance protein signature

IPB001315 CARD interaction domain

IPB001680 G-protein beta WD-40 repeat signature

IPB002182 NB-ARC domain

UniProtKB/Swiss-Prot: APAF_HUMAN, O14727

Domain: The CARD domain mediates interaction with APIP

Domain: The monomeric form is autoinhibited in a closed conformation through a bound ADP at the nucleotide binding

site. Exchange of ADP for ATP and binding of cytochrome c trigger a large conformational change where the first WD

repeat region swings out, allowing the NB-ARC domain to rotate and expose the contact areas for oligomerization (By

similarity)

Similarity: Contains 1 CARD domain

Similarity: Contains 1 NB-ARC domain

Similarity: Contains 15 WD repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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

Induction: By E2F and p53/TP53 in apoptotic neurons

Genatlas biochemistry entry for APAF1:

cytoplasmic scaffolding apoptotic protease activating factor 1,89kDa,forming a ternary complex ATP,datp dependent with

cytochrome C1 and the initiator of apoptosis caspase 9,not inhibited by binding to BCL2

miRNA Products:		miRTarBase miRNAs that target APAF1: hsa-mir-21 (MIRT002410)

		OriGene 3'-UTR Clone (see all 5): APAF1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APAF1
		8/46 QIAGEN miScript miRNA Assays for microRNAs that regulate APAF1 (see all 46):
		hsa-miR-596 hsa-miR-579 hsa-miR-136 hsa-miR-300 hsa-miR-429 hsa-miR-128 hsa-miR-624 hsa-miR-502-3p

		SwitchGear 3'UTR luciferase reporter plasmid: APAF1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APAF1 (see all 7) OriGene shRNA RFP: APAF1 OriGene siRNA: APAF1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APAF1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for APAF1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APAF1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APAF1 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): APAF1 (NM_013229)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APAF1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APAF1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for APAF1
		Search LifeMap BioReagents cell lines for APAF1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APAF1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	TAS	10383829
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	NAS	15009102
GO:0016505	apoptotic protease activator activity	--	--

APAF1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for APAF1: Apaf1^tm1Mak Apaf1^tm1Her
     15/18 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Apaf1) (see all 18):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	hearing/vestibular/ear	immune system	limbs/digits/tail
mortality/aging	nervous system	normal	reproductive system	respiratory system

APAF1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/30 super-pathways (see all 30) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TWEAK Pathway

8/12 pathways (see all 12)
TWEAK Pathway	1.00	TRAIL Pathway	0.40
DR3 Signaling	0.87	TNF Signaling	0.40
TNFR1 Pathway	0.53	Apoptotic Pathways Triggered By HIV1	0.37
HIV-1 Nef- Negative effector of Fas and TNF-alpha	0.42	Apoptosis through Death Receptors	0.32

Apoptosis and survival_Caspase cascade

Apoptosis and survival_Caspase cascade	1.00	Apoptosis and survival FAS signaling cascades	0.44
Apoptosis and survival Caspase cascade	1.00	Caspase cascade in apoptosis	0.42
Apoptosis and survival_FAS signaling cascades	0.44	FAS pathway and Stress induction of HSP regulation	0.33

Apoptotic factor-mediated response

	Apoptotic factor-mediated response	1.00			Cytochrome c-mediated apoptotic response	0.71
	Activation of caspases through apoptosome-mediated cleavage	0.71			Formation of apoptosome	0.43

Apoptotic Pathways in Synovial Fibroblasts

	p53 Mediated Apoptosis	0.84			DHA Signaling	0.70
	Mitochondrial Apoptosis	0.73			Cellular Apoptosis Pathway	0.65

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

	Parkinson's disease	0.61			Huntington's disease	0.40
	Alzheimer's disease	0.43			Alzheimers Disease	0.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 EMD Millipore Pathways for APAF1 (see all 6)

	Apoptosis and survival TNFR1 signaling pathway
	Apoptosis and survival Role of CDK5 in neuronal death and survival
	Apoptosis and survival Caspase cascade
	Apoptosis and survival FAS signaling cascades
	Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

1 R&D Systems Pathway for APAF1

Apoptosis Signaling Pathways

5/22 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for APAF1 (see all 22)

	Caspase Cascade
	TWEAK Pathway
	DHA Signaling
	LT-BetaR Pathway
	Nur77 Signaling in T-Cell

1 Cell Signaling Technology (CST) Pathway for APAF1

Apoptosis and Autophagy

5/6 GeneGo (Thomson Reuters) Pathways for APAF1 (see all 6)

	Apoptosis and survival Caspase cascade
	Apoptosis and survival Role of CDK5 in neuronal death and survival
	Apoptosis and survival FAS signaling cascades
	Apoptosis and survival Lymphotoxin-beta receptor signaling
	Apoptosis and survival TNFR1 signaling pathway

5/14 BioSystems Pathways for APAF1 (see all 14)

	Apoptosis Modulation and Signaling
	Parkinsons Disease Pathway
	Apoptosis
	FAS pathway and Stress induction of HSP regulation
	DNA damage response

5/6 Reactome Pathways for APAF1 (see all 6)

	Activation of caspases through apoptosome-mediated cleavage
	Cytochrome c-mediated apoptotic response
	Intrinsic Pathway for Apoptosis
	Apoptotic factor-mediated response
	Formation of apoptosome

5/8 Kegg Pathways (Kegg details for APAF1) (see all 8):

	p53 signaling pathway
	Apoptosis
	Alzheimer's disease
	Parkinson's disease
	Amyotrophic lateral sclerosis (ALS)

APAF1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for APAF1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/44 Interacting proteins for APAF1 (O14727^{1, 2, 3} ENSP00000353059⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSPA1B	P08107²^,³	MINT-14029 MINT-14028 I2D: score=2
PPP1CA	P62136¹^,³, ENSP00000326031⁴	EBI-446492,EBI-2623163 I2D: score=4 STRING: ENSP00000326031
CASP3	P42574²^,³, ENSP00000311032⁴	MINT-18036 I2D: score=3 STRING: ENSP00000311032
CASP9	P55211¹^,²^,³, ENSP00000330237⁴	EBI-446492,EBI-516799 MINT-15372 MINT-15373 MINT-24935 MINT-15374 MINT-7230217 I2D: score=8 STRING: ENSP00000330237
HSPA1A	P08107²^,³, ENSP00000364802⁴	MINT-14029 MINT-14028 I2D: score=2 STRING: ENSP00000364802

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001843	neural tube closure	IEA	--
GO:0006309	apoptotic DNA fragmentation	IEA	--
GO:0006915	apoptotic process	TAS	--
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	--
GO:0006952	defense response	IEA	--

APAF1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

APAF1 for compounds About GeneDecksing

EMD Millipore small molecules for APAF1:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for APAF1

1 HMDB Compound for APAF1 About this table

Compound	Synonyms	CAS #	PubMed Ids
dATP	2'-Deoxy-5'-ATP (see all 8)	1927-31-7	--

2 DrugBank Compounds for APAF1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine triphosphate	5'-ATP (see all 8)	56-65-5	target	--	17139284 17016423 10935465
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	17139284 17016423

10/40 Novoseek chemical compound relationships for APAF1 gene (see all 40) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
geldanamycin	52.4	3	14633716 (1), 17525298 (1)
noxa	48.8	1	15314285 (1)
atp	45.1	69	10940292 (4), 11035811 (3), 10364241 (3), 15829969 (2) (see all 25)
5-aza-2'deoxycytidine	42.3	10	11196646 (2), 15972851 (1), 19662370 (1), 18473734 (1) (see all 5)
etoposide	40.6	14	9788601 (3), 11346470 (3), 10749135 (2), 10692394 (1) (see all 7)
2-chlorodeoxyadenosine	39.7	4	17009030 (2), 10617581 (1), 9689121 (1)
camptothecin	37.2	5	11591730 (2), 16192386 (1), 15492260 (1)
cysteine	36	6	12805854 (1), 11279541 (1), 12621307 (1), 11230124 (1) (see all 5)
crcs	32.5	5	17516584 (3), 17350821 (1), 15378005 (1)
cisplatin	24.6	11	12950722 (2), 11566177 (2), 12543167 (2), 12618201 (1) (see all 7)

Search CenterWatch for drugs/clinical trials and news about APAF1 / APAF

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for APAF1 gene (5 alternative transcripts):

NM_001160.2 NM_013229.2 NM_181861.1 NM_181868.1 NM_181869.1

Unigene Cluster for APAF1:

Apoptotic peptidase activating factor 1

Hs.552567 [show with all ESTs]

Unigene Representative Sequence: NM_181861

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000551964 ENST00000359972(uc001tfy.3 uc001tga.3) ENST00000547743

ENST00000552268 ENST00000550527(uc009zto.3) ENST00000547045 ENST00000549007

ENST00000555047 ENST00000546491 ENST00000552929 ENST00000547666 ENST00000357310(uc001tfz.3 uc001tgb.3)

ENST00000339433 ENST00000333991(uc001tgc.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 5): APAF1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APAF1
		8/46 QIAGEN miScript miRNA Assays for microRNAs that regulate APAF1 (see all 46):
		hsa-miR-596 hsa-miR-579 hsa-miR-136 hsa-miR-300 hsa-miR-429 hsa-miR-128 hsa-miR-624 hsa-miR-502-3p

		SwitchGear 3'UTR luciferase reporter plasmid: APAF1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APAF1 (see all 7) OriGene shRNA RFP: APAF1 OriGene siRNA: APAF1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APAF1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APAF1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APAF1 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): APAF1 (NM_013229)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APAF1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APAF1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APAF1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat APAF1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APAF1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APAF1

Additional cDNA sequence:

AB007873.2 AB103079.1 AF013263.1 AF134397.1 AF149794.1 AF248734.1 AJ243003.1 AJ243004.1

AJ243005.1 AJ243006.1 AJ243007.1 AJ243008.1 AJ243009.1 AJ243010.1 AJ243011.1 AJ243048.1

AK307509.1 BC136531.1 BC136532.1 BC150255.1 EF560718.1

10 DOTS entries:

DT.100781260 DT.91749992 DT.95198335 DT.91749981 DT.121196991 DT.91749989 DT.100736551 DT.121196775

DT.95360980 DT.92015250

24/86 AceView cDNA sequences (see all 86):

BX280771 AJ243008 BX507624 AJ243006 AF149794 CB857916 AA284016 CR603841

AL135220 T08308 AW593134 AI378749 AA772429 BM472675 AJ243004 N51014

AB103079 AI142654 AI089181 AA285132 AF134397 BM457609 AF013263 AJ243009

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for APAF1 About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14a	·	14b
SP1:							-										-		-		-		-		-		-		-
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for APAF1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

APAF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTCGGTCA

About this image

APAF1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Autopod Synovial Joint

Central Intermediate Lamina Cells

Cartilage

Limb

Stylopod Synovial Joint

Central Intermediate Lamina Cells

Cartilage

Limb

Zeugopod Synovial Joint

Central Intermediate Lamina Cells

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See APAF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for APAF1

SOURCE GeneReport for Unigene cluster: Hs.552567

UniProtKB/Swiss-Prot: APAF_HUMAN, O14727

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

SABiosciences Expression via Pathway-Focused PCR Arrays including APAF1 (see all 8):

Leukemia in human mouse rat

Cancer PathwayFinder in human mouse rat

Apoptosis in human mouse rat

TNF Ligands & Receptors in human mouse rat

p53 Signaling Pathway in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for APAF1 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Apaf1^{1 , 5}	apoptotic peptidase activating factor 1^{1, 5}	86(n)¹ 87.42(a)¹		10 (45.47 cM)⁵ 11783¹ NM_001042558.1¹ NP_001036023.1¹ 90989311⁵
chicken (Gallus gallus)	Aves	APAF1¹	apoptotic peptidase activating factor 1	72.42(n) 70.04(a)		417926 XM_416167.3 XP_416167.3
lizard (Anolis carolinensis)	Reptilia	APAF1⁶	--	69(a)	1 ↔ 1	5(29247135-29298680)
zebrafish (Danio rerio)	Actinopterygii	AF251502.1²	--	73.97(n)		58131 AF251502.1
fruit fly (Drosophila melanogaster)	Insecta	Ark⁶	Apaf-1-related-killer	12(a)	1 ↔ 1	2R(12907549-12914208)

ENSEMBL Gene Tree for APAF1 (if available)
TreeFam Gene Tree for APAF1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for APAF1 gene

WDR61² SMU1²

3 SIMAP similar genes for APAF1 using alignment to 6 protein entries: APAF_HUMAN (see all proteins):

PF20 POC1B WSB1

APAF1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74448404^1,2		--	96098094(+)	`TAAAAC/TTCTAT`	5	--	us2k¹		0	--	--	--	--
rs12304057^1,2	C,F,	--	96098224(+)	`CAGAAA/GAAAAA`	5	--	us2k¹ trp³		1		WA	118
rs201047547^1,2	C	--	96098546(+)	`GTTTTC/TTTTTT`	5	--	us2k¹		0	--	--	--	--
rs75137293^1,2		--	96098880(+)	`GATGTG/TTCCCG`	5	--	us2k¹		0	--	--	--	--
rs11109556^1,2	C,F,	--	96100118(+)	`CCCGCG/AAAGAC`	5	--	ut5¹ ese³		1		WA	118
rs113907867^1,2	C,	--	96100122(+)	`CGAAGG/ACTTGA`	5	--	ut5¹		1		WA	2
rs74619561^1,2	C,F,	--	96100134(+)	`GTGCCG/ACAGCG`	5	--	ut5¹		1		EA	120
rs2118851^1,2	C,	--	96100277(+)	`CACCGC/GGGCGC`	5	--	ut5¹ ese³		2		NA EA	122
rs113987233^1,2	C,F,	--	96100735(+)	`TGGATA/GAACGT`	5	--	int¹		1		NA	120
rs75579173^1,2	F,	--	96101068(+)	`TGATTC/TGAATC`	5	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for APAF1 (99038919 - 99129211 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for APAF1: --
Human Gene Mutation Database (HGMD): APAF1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APAF1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

APAF1 for disorders           About GeneDecksing

OMIM gene information: 602233    OMIM disorders: --

20/66 diseases for APAF1 (see all 66):    About MalaCards

amyotrophic lateral sclerosis nonseminomatous germ cell tumor amyotrophic lateral sclerosis (als) talipes equinovarus

germ cell tumor non-small cell lung carcinoma lateral sclerosis anaplastic large cell lymphoma

testicular germ cell tumor male germ cell tumor clear cell renal cell carcinoma non-hodgkin lymphoma

autism spectrum disorder myeloid leukemia laryngeal squamous cell carcinoma lymphoblastic leukemia

renal cell carcinoma dystrophinopathies squamous cell carcinoma hodgkin's lymphoma

1 disease from the University of Copenhagen DISEASES database for APAF1:

Cancer

10/48 Novoseek disease relationships for APAF1 gene (see all 48) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer	45.1	20	11410874 (3), 17317823 (2), 11346470 (2), 18559599 (1) (see all 13)
plant diseases	43.8	5	11607846 (1), 18362948 (1), 10066601 (1)
metastatic melanoma	42	21	11196646 (3), 15009102 (2), 15649154 (2), 15305193 (2) (see all 9)
melanoma	39.8	74	16420245 (7), 15649154 (7), 15009102 (6), 15305193 (5) (see all 20)
tumors	38.5	119	16315248 (10), 11896617 (6), 17541304 (4), 17882496 (4) (see all 42)
allelic imbalance	30.8	5	15378005 (2), 15026369 (1), 15205316 (1)
blast crisis	29.9	3	17603723 (1), 17361096 (1)
necrosis	22.9	11	16532269 (1), 9890966 (1), 10728603 (1), 11872042 (1) (see all 8)
ovarian carcinoma	22.2	1	11830553 (1)
myeloid leukemia	18.7	1	9788601 (1)

Genetic Association Database (GAD): APAF1
Human Genome Epidemiology (HuGE) Navigator: APAF1 (16 documents)

Export disorders for APAF1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for APAF1 gene, integrated from 9 sources (see all 491):
(articles sorted by number of sources associating them with APAF1)

Utopia: connect your pdf to the dynamic
world of online information

Apaf-1, a human protein homologous to C. elegans CED-4, participates in cytochrome c-dependent activation of caspase-3. (PubMed id 9267021)^{1, 2, 3, 9} Zou H.... Wang X. (1997)
Three new types of Apaf-1 in mammalian cells. (PubMed id 10441496)^{1, 2, 9} Hahn C.... Stein H. (1999)
Allelic imbalance of 12q22-23 associated with APAF-1 locus correlates with poor disease outcome in cutaneous melanoma. (PubMed id 15026369)^{1, 4, 9} Fujimoto A....Hoon D.S. (2004)
APAF-1-ALT, a novel alternative splicing form of APAF-1, potentially causes impeded ability of undergoing DNA damage-induced apoptosis in the LNCaP human prostate cancer cell line. (PubMed id 12804598)^{1, 2, 9} Ogawa T.... Furukawa T. (2003)
Cytochrome c and dATP-mediated oligomerization of Apaf-1 is a prerequisite for procaspase-9 activation. (PubMed id 10364241)^{1, 2, 9} Saleh A.... Alnemri E.S. (1999)
Role of cytochrome c and dATP/ATP hydrolysis in Apaf-1-mediated caspase-9 activation and apoptosis. (PubMed id 10393175)^{1, 2, 9} Hu Y.... Nunez G. (1999)
Apaf-1 is a transcriptional target for E2F and p53. (PubMed id 11389439)^{1, 2, 9} Moroni M.C.... Helin K. (2001)
Induced inhibition of ischemic/hypoxic injury by APIP, a novel Apaf- 1-interacting protein. (PubMed id 15262985)^{1, 2} Cho D.-H....Jung Y.-K. (2004)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)^{1, 2} Nakajima D.... Nagase T. (2002)
Solution structure and mutagenesis of the caspase recruitment domain (CARD) from Apaf-1. (PubMed id 10578182)^{1, 2} Day C.L.... Hinds M.G. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 317	HGNC: 576	AceView: APAF1	Ensembl:ENSG00000120868	euGenes: HUgn317
ECgene: APAF1	Kegg: 317	H-InvDB: APAF1

(According to HUGE)
About This Section

HUGE: KIAA0413

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for APAF1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for APAF1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for APAF1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for APAF1 gene:
Search GeneIP for patents involving APAF1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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APAF1 Gene

apoptotic peptidase activating factor 1

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APAF1 Gene

apoptotic peptidase activating factor 1

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