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APAF1 Gene

protein-coding   GIFtS: 71
GCID: GC12P099039

Apoptotic Peptidase Activating Factor 1

(Previous names: apoptotic protease activating factor, apoptotic peptidase...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Apoptotic Peptidase Activating Factor 11 2     CED42
APAF-12 3     Apoptotic Protease-Activating Factor 12
Apoptotic Peptidase Activating Factor1     KIAA04133
Apoptotic Protease 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APAF1 Gene:
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)

GeneCards Summary for APAF1 Gene:
APAF1 (apoptotic peptidase activating factor 1) is a protein-coding gene. Diseases associated with APAF1 include male germ cell tumor, and nonseminomatous germ cell tumor. GO annotations related to this gene include ADP binding and identical protein binding. An important paralog of this gene is WDR3.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for APAF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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 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

Explore proteomics data for APAF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys809
  • Modification sites at PhosphoSitePlus

  • See APAF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    APAF1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for APAF1
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    Novus Biologicals APAF1 Proteins
    Novus Biologicals APAF1 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for APAF1

    APAF1 Antibody Products:

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    ThermoFisher Antibodies for APAF1
    LSBio Antibodies in human, mouse, rat for APAF1

    APAF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for APAF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APAF1
    Cloud-Clone Corp. CLIAs for APAF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 11):
     IPR017251 Apoptotic_pept-activating_1
     IPR019775 WD40_repeat_CS
     IPR011029 DEATH-like_dom
     IPR000767 Disease_R
     IPR002182 NB-ARC

    Graphical View of Domain Structure for InterPro Entry O14727

    ProtoNet protein and cluster: O14727

    4 Blocks protein domains:
    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


    APAF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular 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
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding TAS10383829
    GO:0005515protein binding IPI10206961
    GO:0005524ATP binding IEA--
    GO:0008656cysteine-type endopeptidase activator activity involved in apoptotic process NAS15009102
    GO:0042802identical protein binding IEA--
         
    APAF1 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 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

    Animal Models:
         MGI mouse knock-outs for APAF1: Apaf1tm1Mak Apaf1tm1Her

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APAF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APAF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APAF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APAF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target APAF1:
    hsa-mir-21-5p (MIRT002410), hsa-mir-155-5p (MIRT020853), hsa-mir-335-5p (MIRT018166)

    Block miRNA regulation of human, mouse, rat APAF1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidAPAF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APAF1
    Predesigned siRNA for gene silencing in human, mouse, rat APAF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for APAF1

    Clone
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    OriGene ORF clones in mouse, rat for APAF1
    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
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    Browse ESI BIO Cell Lines and PureStem Progenitors for APAF1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APAF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APAF_HUMAN, O14727: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    golgi apparatus4
    nucleus4
    mitochondrion3
    endoplasmic reticulum1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus ----
    GO:0005829cytosol TAS--

    APAF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for APAF1 About   (see all 34)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1TWEAK Pathway
    TWEAK Pathway0.87
    Apoptotic Pathways Triggered By HIV10.42
    DR3 Signaling0.87
    Apoptosis through Death Receptors0.42
    TNFR1 Pathway0.56
    TRAIL Pathway0.40
    TNF Signaling0.55
    Fas Signaling0.35
    2Apoptosis and survival Caspase cascade
    Apoptosis and survival Caspase cascade0.44
    FAS pathway and Stress induction of HSP regulation0.44
    Apoptosis and survival FAS signaling cascades0.44
    Caspase cascade in apoptosis0.42
    3Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Amyotrophic lateral sclerosis (ALS)0.63
    4LT-BetaR Pathway
    Apoptosis and survival Lymphotoxin beta receptor signaling0.46
    LT-BetaR Pathway0.46
    5Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for APAF1
        Apoptosis Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

    Selected BioSystems Pathways for APAF1 (see all 14)
        Apoptosis
    DNA damage response
    Apoptosis Modulation and Signaling
    FAS pathway and Stress induction of HSP regulation
    Parkinsons Disease Pathway

    2 Reactome Pathways for APAF1
        Activation of caspases through apoptosome-mediated cleavage
    Formation of apoptosome


    Selected Kegg Pathways  (Kegg details for APAF1) (see all 10):
        p53 signaling pathway
    Apoptosis
    Alzheimer's disease
    Parkinson's disease
    Amyotrophic lateral sclerosis (ALS)


    APAF1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for APAF1

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

    Selected Interacting proteins for APAF1 (O147271, 2, 3 ENSP000003530594) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081072, 3MINT-14029 MINT-14028 I2D: score=2 
    ENSG00000215328P081072, 3MINT-14029 MINT-14028 I2D: score=2 
    ENSG00000224501P081072, 3MINT-14029 MINT-14028 I2D: score=2 
    ENSG00000231555P081072, 3MINT-14029 MINT-14028 I2D: score=2 
    ENSG00000234475P081072, 3MINT-14029 MINT-14028 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

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

    APAF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APAF1 (APAF)

    1 HMDB Compound for APAF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--

    2 DrugBank Compounds for APAF1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423 10935465
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423

    Selected Novoseek inferred 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)



    APAF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
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    Selected qRT-PCR 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 plasmidAPAF1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 5): APAF1 (NM_013229)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APAF1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APAF1
      QuantiTect SYBR Green Assays in human, mouse, rat APAF1
      QuantiFast Probe-based Assays in human, mouse, rat APAF1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 86):

    BX507624 AI142654 NM_181869 AJ243006 NM_181861 AB103079 BX280771 NM_181868 
    AI017027 CR603841 AI378749 AJ243003 AA284016 AA285132 T08308 N51014 
    NM_013229 AJ243009 AJ243048 AJ243008 AL135220 AF149794 BM457609 CB857916 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    APAF1 expression in normal human tissues (normalized intensities)      APAF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTCGGTCA
    APAF1 Expression
    About this image


    APAF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
     
     Tooth (Integumentary System)
             Primary Enamel Knot Cells Enamel Knot
    APAF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APAF1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APAF1

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for APAF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apaf11 , 5 apoptotic peptidase activating factor 11, 5 86(n)1
    87.42(a)1
      10 (45.47 cM)5
    117831  NM_009684.21  NP_033814.21 
     909893115 
    chicken
    (Gallus gallus)
    Aves APAF11 apoptotic peptidase activating factor 1 72.4(n)
    70.04(a)
      417926  XM_416167.4  XP_416167.3 
    lizard
    (Anolis carolinensis)
    Reptilia APAF16
    apoptotic peptidase activating factor 1
    69(a)
    1 ↔ 1
    5(29247135-29298722)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia apaf11 apoptotic peptidase activating factor 1 67.19(n)
    66.46(a)
      100127738  NM_001113075.1  NP_001106546.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF251502.12   -- 73.97(n)   58131  AF251502.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG301166
    --
    10(a)
    1 ↔ 1
    2R(14344467-14385516)
    worm
    (Caenorhabditis elegans)
    Secernentea qui-16
    Protein QUI-1, isoform a (qui-1) mRNA, complete cd...
    8(a)
    1 ↔ 1
    IV(13561861-13574419) WBGene00004265
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DIP26
    Nucleolar protein, specifically associated with th...
    15(a)
    1 → many
    XII(399657-402488) YLR129W


    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)
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    Paralogs for APAF1 gene
    WDR32  
    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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for APAF1 (see all 1826)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2001163481,2
    C--96143358(+) TCTTTC/TTTTTT 5 -- int10--------
    rs79634311,2
    A--96144320(+) TGAGGA/GTgaga 5 -- int10--------
    rs172276061,2
    C,F,H--96187727(+) TGATGC/TATTCA 5 -- ut31 ese37Minor allele frequency- T:0.01NA NS 492
    rs1158056291,2
    C,F--96187866(+) CAAGGG/TGGTTT 5 -- ut311Minor allele frequency- T:0.06WA 118
    rs1879455491,2
    --96187906(+) TTTGCA/CCTCTT 5 -- ut310--------
    rs1168842851,2
    C,F--96188006(+) CCCCCC/TCACCT 5 -- ut311Minor allele frequency- T:0.03NA 120
    rs1113823351,2
    C,F--96188096(+) CGCTGA/CCTCCT 5 -- ut312Minor allele frequency- C:0.33WA CSA 3
    rs1924211451,2
    --96188118(+) ATTCTC/TCTGCC 5 -- ut310--------
    rs1852859991,2
    --96188134(+) CTCCCA/GAGTAG 5 -- ut310--------
    rs123079861,2
    C--96188197(+) agacgA/Gggttt 5 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for APAF1 (99038919 - 99129211 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for APAF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746267CNV Deletion23290073
    nsv844CNV Insertion18451855
    nsv455696CNV Loss19166990
    nsv832496CNV Gain17160897

    Human Gene Mutation Database (HGMD): APAF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APAF1
    DNA2.0 Custom Variant and Variant Library Synthesis for APAF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602233    OMIM disorders: --

    Selected diseases for APAF1 (see all 64):    About MalaCards
    male germ cell tumor    nonseminomatous germ cell tumor    dystrophinopathies    talipes equinovarus
    retinal ischemia    legionellosis    germ cell tumors    kidney cancer
    clubfoot    brain ischemia    fibrosarcoma    myeloid leukemia
    amyotrophic lateral sclerosis    acute leukemia    cervical cancer    clear cell renal cell carcinoma
    lateral sclerosis    testicular germ cell tumor    anaplastic large cell lymphoma    laryngeal squamous cell carcinoma

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

    APAF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred 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)
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    PubMed articles for APAF1 gene, integrated from 10 sources (see all 497):
    (articles sorted by number of sources associating them with APAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Cell 1997)
    2. Three new types of Apaf-1 in mammalian cells. (PubMed id 10441496)1, 2, 9 Hahn C.... Stein H. (Biochem. Biophys. Res. Commun. 1999)
    3. 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. (Cancer Res. 2004)
    4. 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. (Biochem. Biophys. Res. Commun. 2003)
    5. 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. (J. Biol. Chem. 1999)
    6. 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. (EMBO J. 1999)
    7. Apaf-1 is a transcriptional target for E2F and p53. (PubMed id 11389439)1, 2, 9 Moroni M.C.... Helin K. (Nat. Cell Biol. 2001)
    8. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. A sequencing-based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls. (PubMed id 19455599)1, 4 Amin Z....Lappalainen J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 317 HGNC: 576 AceView: APAF1 Ensembl:ENSG00000120868 euGenes: HUgn317
    ECgene: APAF1 Kegg: 317 H-InvDB: APAF1

    (According to HUGE)
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    HUGE: KIAA0413

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for APAF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APAF1 Genetics and Cytogenetics in Oncology and Haematology

    (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



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