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APAF1 Gene

protein-coding   GIFtS: 69

GC12P097541
apoptotic peptidase activating factor 1
(Previous names: apoptotic protease activating factor, apoptotic peptidase activating factor )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
APAF-1 1, 2
Apaf-1 3
CED4 1, 2
DKFZp781B1145 2
KIAA0413 3
Descriptions
apoptotic peptidase activating factor 1
apoptotic peptidase activating factor 1 2
apoptotic protease activating factor 1
apoptotic protease activating factor 1 2
External Ids
HGNC: 5761
Entrez Gene: 3172
UniProtKB: O147273
Ensembl: ENSG000001208687
Search outside databases for aliases for APAF1 gene

Previous GC identifers: GC12P098489 GC12P099542 GC12P098971

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the APAF1 gene  

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)

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P097541:     (about GC identifiers)

Start:
97,563,209 bp from pter
End:
97,653,342 bp from pter
Size:
90,134 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000012.10  NT_019546.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 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
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAK28401.1; Type=Frameshift; Positions=108;
PDB structures from and Proteopedia :
1C15 (3D)    1CWW (3D)    1CY5 (3D)    1Z6T (3D)    2P1H (3D)    2YGS (3D)    3YGS (3D)    
Secondary accessions: 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   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (5 alternative transcripts): 
    NP_001151.1  NP_037361.1  NP_863651.1  NP_863658.1  NP_863659.1  


    ENSEMBL proteins: 
    ENSP00000341830 ENSP00000349862 ENSP00000353059 ENSP00000334558 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (APAF1)
    Human Recombinant Proteins from Abnova (APAF1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol TAS9267021
    About this table

    Antibodies for APAF1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of APAF1
    Sigma-Aldrich Antibody Arrays and Antibodies for APAF1
    R&D Systems Antibodies for APAF1 (APAF-1)
    Cell Signaling Technology (CST) Antibodies for APAF1  (Apaf-1)
    Antibodies from Abcam (APAF1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (APAF1)
    Novus Biologicals Antibodies for APAF1

    Assays for APAF1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/10 InterPro domains/families (see all 10 ):
     IPR019782 WD40_repeat_2
     IPR017251 Apoptotic_pept-activating_1
     IPR002182 NB-ARC
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat


       GeneDecks  APAF1 for the domains selected above  
    About GeneDecksing

    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
    Similarity: Contains 1 CARD domain
    Similarity: Contains 1 NB-ARC domain
    Similarity: Contains 13 WD repeats

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (APAF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (APAF1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_013229

                  Applied Biosystems Silencer® siRNAs for APAF1

                  Sigma-Aldrich siRNA for APAF1  
                         Sigma-Aldrich shRNA Panels and shRNA for APAF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_001160
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_001160
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_001160 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_181861

    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 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

    15/19 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Apaf1) (see all 19 ):

    behavior/neurologicalcellularcraniofacialdigestive/alimentary
    endocrine/exocrine glandhearing/vestibular/earimmune systemlethality-postnatallethality-prenatal/perinatal
    life span-post-weaning/aginglimbs/digits/tailnervous systemnormalreproductive system

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding TAS10383829
    GO:0005515 protein binding IPI9267021 10949025
    GO:0005524 ATP binding IEA--
    GO:0008656 caspase activator activity NAS15009102
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    5/6 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

       GeneDecks  APAF1 for the pathways selected above  
    About GeneDecksing

    5/15 Sigma-Aldrich "Your Favorite Gene" Pathways for  APAF1  (Your Favorite Gene powered by Ingenuity) (see all 15
     p53 Signaling
     Lymphotoxin &beta
     Role of PKR in Interferon Induction and Antiviral Response
     Type I Diabetes Mellitus Signaling
     Docosahexaenoic Acid (DHA) Signaling

       GeneDecks  APAF1 for the pathways selected above  
    About GeneDecksing

    2 Cell Signaling Technology (CST) Pathways for APAF1: 
     Death Receptor Signaling
     Mitochondrial Control of Apoptosis

       GeneDecks  APAF1 for the pathways selected above  
    About GeneDecksing

    5/7 Kegg Pathways  (Kegg details for APAF1) (see all 7 ):
     hsa04115 p53 signaling pathway
     hsa04210 Apoptosis
     hsa05010 Alzheimer's disease
     hsa05012 Parkinson's disease
     hsa05014 Amyotrophic lateral sclerosis (ALS)

       GeneDecks  APAF1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  APAF1 


    5/80 Interacting proteins for APAF1 (ENSP000003530593 O147271, 2) via UniProtKB, MINT, and/or STRING (see all 80 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYCSP999991STRING (score=.999) EBI-446492, EBI-446479
    AVENQ9NQS12STRING (score=.894) MINT-17186 MINT-17187
    CASP3P425742STRING (score=.998) MINT-18036
    CASP9P552111, 2STRING (score=.999) EBI-446492, EBI-516799 MINT-15372 MINT-15373 MINT-24935 MINT-15374 EBI-446492, EBI-516799 MINT-15372 MINT-15373 MINT-24935 MINT-15374
    PPP1CAP621361EBI-446492, EBI-357253
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399 nervous system development TAS9753320
    GO:0008635 activation of caspase activity by cytochrome c IDA9267021
    GO:0042981 regulation of apoptosis TAS10441496
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for APAF1
    10/12 Novoseek chemical compound relationships for APAF1 gene (see all 12 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 45.61 59 10940292 (4), 11035811 (3), 10364241 (3), 15829969 (2) (see all 23)
    noxa 44.89 1 15314285 (1)
    crcs 35.95 5 17516584 (3), 17350821 (1), 15378005 (1)
    steroid 4.30 1 16555999 (1)
    p00001 2.21 2 15633635 (1), 16697107 (1)
    calcium 1.50 3 17244527 (3)
    lipid 1.13 2 15692060 (1)
    oxygen 0.00 2 14598320 (1), 10749135 (1)
    superoxide 0.00 1 16046141 (1)
    nitric oxide 0.00 4 15492260 (1), 12136132 (1), 12605597 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (APAF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (APAF1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_013229

                  Sigma-Aldrich siRNA for APAF1  
                         Sigma-Aldrich shRNA Panels and shRNA for APAF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001160  NM_013229  NM_181861  NM_181868  NM_181869  

    REFSEQ mRNAs for APAF1 gene (5 alternative transcripts): 

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

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001160  NM_013229  NM_181861  NM_181868  NM_181869  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_001160
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_001160
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_001160 

    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 ):

    BM472675 AI089181 AJ243004 AF149794 AI017027 AJ243007 NM_181861 AJ243009 
    NM_181868 AW593134 N51014 CR603841 AI378749 AA285132 AA772429 NM_181869 
    AJ243006 AJ243003 AF134397 BX280771 T08308 AJ243008 NM_013229 AB103079 

    highest scoring ESTs for APAF1:

    AA640121 AB007873 AF013263 AF134397 AF149794 AI743892 AJ243003 AJ243004 AJ243005 AJ243006 

    Unigene Cluster for APAF1:

    Apoptotic peptidase activating factor 1
    Hs.552567  [show with all ESTs]
    Unigene Representative Sequence: NM_181861


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for APAF1

    4 Ensembl transcripts including schematic representations:
    ENST00000339433  ENST00000357310  ENST00000359972  ENST00000333991  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    APAF1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for APAF1

    1 / 2 / 3

    6 probe-sets matching APAF1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    211553_x_at2, 3 U133-A 1 1.00 1.00 -- -- AF248734 0.60 1.00 0.82 1

    211554_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF149794 0.80 1.00 0.91 1

    204859_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_013229 0.60 1.00 0.82 1

    211553_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    211554_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    204859_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CAGTCGGTCA

    SOURCE GeneReport for Unigene cluster: Hs.552567

    Expression variation in blood from EXPOLDB for APAF1

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for APAF1 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    APAF11   -- apoptotic peptidase activating factor 1 91.77(n)
    91.03(a)
    482620  XM_539737.2  XP_539737.2 
    chimpanzee
    (Pan troglodytes)
    APAF11   -- apoptotic peptidase activating factor 1 99.63(n)
    99.44(a)
    452153  XM_509290.2  XP_509290.2 
    rat
    (Rattus norvegicus)
    Apaf11   -- apoptotic peptidase activating factor 1 85.36(n)
    87.42(a)
    78963  NM_023979.1  NP_076469.1 
    mouse
    (Mus musculus)
    Apaf11, 5 10 (48.00 cM)5
    apoptotic peptidase activating factor 11, 5 86(n)1
    87.42(a)1
    117831  NM_001042558.11  NP_001036023.11 
     AF0640715  AJ9703095  (see all 14)
    chicken
    (Gallus gallus)
    APAF11   -- apoptotic peptidase activating factor 1 72.48(n)
    70.19(a)
    417926  XM_416167.2  XP_416167.2 
    About this table        Species with no ortholog for APAF1

    ENSEMBL Gene Tree for APAF1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for APAF1 gene
    SMU12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/449 NCBI SNPs in APAF1 are shown (see all 449 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 119)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs65388821,2
    A,C97652133(+) tctcaC/Tcctct 5 -- ut31 trp30--------
    --
    rs65388811,2
    A,C97652132(+) ctctcA/Ttcctc 5 -- ut310--------
    --
    rs44502131,2
    H97651306(+) aagtgC/Atgaga 5 -- ut313Minor allele frequency- A:0.00EA WA 296
    rs116135341,2
    H97589574(+) GCAAGC/ATAAGC 5 D/A mis1 int14Minor allele frequency- A:0.00EU EA WA 420
    rs22887271,2
    A,C,F,H,O97607930(-) AATACT/ATGAGT 5 -- int113Minor allele frequency- A:0.21EA NA EU WA MN CSAM 2404
    rs14391241,2
    A,C,F,H,O97644201(-) TTTCTA/CATCTT 5 -- int111Minor allele frequency- C:0.15NA EU EA WA 976
    rs14391231,2
    A,C,F,H,O97600447(-) ccctaT/Ctactg 5 -- int112Minor allele frequency- C:0.12MN EU EA WA NA 1164
    rs28400251,2
    A,C,F,H,O97603020(-) TATTTA/GGAAAT 5 -- int17Minor allele frequency- G:0.18EU EA WA NA 558
    rs22887141,2
    A,C,F,H,O97632419(-) gaAAAT/CTGTGG 5 -- int14Minor allele frequency- C:0.46EU EA WA 414
    rs22887261,2
    A,C,F,H,O97608518(-) TTCTTG/TAACAT 5 -- int117Minor allele frequency- T:0.05EA NA EU WA 2950
    About this table

    HapMap Linkage Disequilibrium images for APAF1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602233

    10/47 Novoseek disease relationships for APAF1 gene (see all 47 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    plant diseases 46.19 5 11607846 (1), 18362948 (1), 10066601 (1)
    metastatic melanoma 44.11 21 11196646 (3), 15009102 (2), 15649154 (2), 15305193 (2) (see all 9)
    cancer 41.17 19 11410874 (3), 17317823 (2), 11346470 (2), 18559599 (1) (see all 12)
    melanoma 40.95 74 16420245 (7), 15649154 (7), 15009102 (6), 15305193 (5) (see all 20)
    tumors 37.83 111 16315248 (10), 11896617 (6), 17541304 (4), 17882496 (4) (see all 38)
    allelic imbalance 32.69 5 15378005 (2), 15026369 (1), 15205316 (1)
    blast crisis 31.75 3 17603723 (1), 17361096 (1)
    ovarian carcinoma 24.25 1 11830553 (1)
    necrosis 21.92 6 16532269 (1), 9890966 (1), 10728603 (1), 11872042 (1) (see all 6)
    myeloid leukemia 20.67 1 9788601 (1)
    About this table

    Human Gene Mutation Database: APAF1
    Genetic Association Database: APAF1
    Human Genome Epidemiology Navigator: APAF1 (6 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/414 PubMed articles for APAF1 gene (see all 414 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 317 HGNC: 576 AceView: APAF1 Ensembl:ENSG00000120868 euGenes: HUgn317
    ECgene: APAF1 H-InvDB: APAF1
    (According to HUGE)
    About This Section

    HUGE: KIAA0413
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for APAF1 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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