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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CASP9 Gene

protein-coding   GIFtS: 72
GCID: GC01M015814

Caspase 9, Apoptosis-Related Cysteine Peptidase

(Previous names: caspase 9, apoptosis-related cysteine protease)
Microbiology & Infectious Diseases Congress
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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)
About This Section

Aliases
Caspase 9, Apoptosis-Related Cysteine Peptidase1 2     Regulatory Subunit 561
Apoptotic Protease Mch-62 3     PPP1R562
APAF-32 3     Apoptotic Protease Activating Factor 32
ICE-LAP62 3     caspase-92
MCH62 3     Protein Phosphatase 1, Regulatory Subunit 562
ICE-Like Apoptotic Protease 62 3     CASP-93
APAF32 5     EC 3.4.22.623
Caspase 9, Apoptosis-Related Cysteine Protease1     Apoptotic Protease-Activating Factor 33
Protein Phosphatase 11     

External Ids:    HGNC: 15111   Entrez Gene: 8422   Ensembl: ENSG000001329067   OMIM: 6022345   UniProtKB: P552113   

Export aliases for CASP9 gene to outside databases

Previous GC identifers: GC01M015216 GC01M014997 GC01M015086 GC01M015181 GC01M015565 GC01M015688 GC01M014338


(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 CASP9 Gene:
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of
caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes
which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small,
that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by
the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is
thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central
role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, May 2013)

GeneCards Summary for CASP9 Gene: 
CASP9 (caspase 9, apoptosis-related cysteine peptidase) is a protein-coding gene. Diseases associated with CASP9 include thoracic cancer, and cerebral hypoxia, and among its related super-pathways are DR3 Signaling and Apoptosis and survival FAS signaling cascades. GO annotations related to this gene include peptidase activity and protein kinase binding. An important paralog of this gene is CASP16.

UniProtKB/Swiss-Prot: CASP9_HUMAN, P55211
Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9
to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA
damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase
(PARP)
Function: Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9

summary for CASP9 Gene:
Caspases (short for 'cysteinyl aspartate proteases') are involved in the signal transduction pathways of
apoptosis, necrosis and inflammation. These enzymes can be divided into two major classes - initiators and
effectors. The initiator isoforms (caspases-1,-4,-5,-8,-9,-10,-11,-12) are activated by, and interact with,
upstream adaptor molecules through protein-protein interaction domains known as CARD and DED. Effector
caspases (-3,-6,-7) are responsible for cleaving downstream substrates and are sometimes referred to as the
executioner caspases. More than 400 caspase substrates have so far been identified (see The Caspase
Substrate Database). Initiator caspases, such as caspase 8, may be directly activated by death receptors
such as FasR. Caspases can also be found intracellularly as part of large multiprotein complexes. For
example, caspase 9 is recruited to the apoptosome formed during apoptosis, whilst caspases-1 and 5 can form
part of the inflammasome, a key part of cytokine processing during inflammation. Caspases are regulated by
inhibitors of apoptosis and by dominant negative isoforms. They have been implicated in the pathogenesis of
many disorders including stroke, Alzheimer's disease, myocardial infarction, cancer, and inflammatory
disease.

Gene Wiki entry for CASP9 (Caspase-9) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CASP9 gene promoter:
         Sp1   Olf-1   RelA   NF-E2 p45   NF-kappaB   POU2F1   FOXO4   POU2F1a   NF-E2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASP9 promoter sequence
   Search SABiosciences Chromatin IP Primers for CASP9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASP9


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

Entrez Gene cytogenetic band: 1p36.21   Ensembl cytogenetic band:  1p36.21   HGNC cytogenetic band: 1p36.21

CASP9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP9 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M015814:  view genomic region     (about GC identifiers)

Start:
15,817,327 bp from pter      End:
15,853,029 bp from pter
Size:
35,703 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CASP9_HUMAN, P55211 (See protein sequence)
Recommended Name: Caspase-9 precursor  
Size: 416 amino acids; 46281 Da
Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 35 kDa
(p35) and a 10 kDa (p10) subunit. Caspase-9 and APAF1 bind to each other via their respective NH2-terminal CED-3
homologous domains in the presence of cytochrome C and ATP. Interacts (inactive form) with EFHD2. Interacts with
HAX1. Interacts with BIRC2/c-IAP1, XIAP/BIRC4, BIRC5/survivin, BIRC6/bruce and BIRC7/livin. Interacts with ABL1
(via SH3 domain); the interaction is direct and increases in the response of cells to genotoxic stress and
ABL1/c-Abl activation. Interacts with NleF from pathogenic E.coli
Developmental stage: Expressed at low levels in fetal heart, at moderate levels in neonate heart, and at high
levels in adult heart
6 PDB 3D structures from and Proteopedia for CASP9:
1JXQ (3D)        1NW9 (3D)        2AR9 (3D)        3D9T (3D)        3V3K (3D)        3YGS (3D)    
Secondary accessions: B4E1A3 O95348 Q53Y70 Q5JRU9 Q5UGI1 Q92852 Q9BQ62 Q9UEQ3 Q9UIJ8
Alternative splicing: 4 isoforms:  P55211-1   P55211-2   P55211-3   P55211-4   (May function as an endogenous apoptotic inhibitor, inhibits the BAX-mediated cleavage of procaspase-3)

Explore the universe of human proteins at neXtProt for CASP9: NX_P55211

Explore proteomics data for CASP9 at MOPED 

Post-translational modifications:

  • UniProtKB: Cleavages at Asp-315 by granzyme B and at Asp-330 by caspase-3 generate the two active subunits. Caspase-8 and -10
    can also be involved in these processing events
  • UniProtKB: Phosphorylated at Thr-125 by MAPK1/ERK2. Phosphorylation at Thr-125 is sufficient to block caspase-9 processing
    and subsequent caspase-3 activation. Phosphorylation on Tyr-153 by ABL1/c-Abl; occurs in the response of cells to
    DNA damage
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55211

  • CASP9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CASP9 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001220.2  NP_001264983.1  NP_127463.2  

    ENSEMBL proteins: 
     ENSP00000449584   ENSP00000330237   ENSP00000255256   ENSP00000383588   ENSP00000408691  
     ENSP00000365051   ENSP00000449216   ENSP00000396540   ENSP00000411304  
    Reactome Protein details: P55211
    Human Recombinant Protein Products for CASP9: 
    EMD Millipore Purified and/or Recombinant CASP9 Protein
    Browse R&D Systems for human recombinant proteins
    Enzo Life Sciences proteins for CASP9
    OriGene Purified Protein for CASP9
    OriGene Protein Over-expression Lysate for CASP9
    OriGene MassSpec for CASP9 
    OriGene Custom Protein Services for CASP9
    GenScript Custom Purified and Recombinant Proteins Services for CASP9
    Novus Biologicals CASP9 Proteins
    Novus Biologicals CASP9 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASP9 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--
    GO:0043293apoptosome IDA--

    CASP9 for ontologies           About GeneDecksing



    CASP9 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CASP9
    R&D Systems Antibodies for CASP9 (Caspase-9)
    OriGene Antibodies for CASP9
    OriGene Custom Antibody Services for CASP9
    GenScript Custom Superior Antibodies Services for CASP9
    Novus Biologicals CASP9 Antibodies
    Abcam antibodies for CASP9
    Cloud-Clone Corp. Antibodies for CASP9 
    ThermoFisher Antibody for CASP9
    LSBio Antibodies in human, mouse, rat for CASP9 

    Assay Products for CASP9: 
    EMD Millipore Kits and Assays for the Analysis of CASP9
    OriGene Custom Assay Services for CASP9
    R&D Systems Kinase Activity Assays & Reagents for CASP9 (Caspase-9)
    GenScript CASP9-Activity-based Protease Assay for Compound Screening
    Enzo Life Sciences assays for CASP9
    Cloud-Clone Corp. ELISAs for CASP9 
    Cloud-Clone Corp. CLIAs for CASP9


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CASP: Caspases
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    IUPHAR Guide to PHARMACOLOGY protein family classification: Caspase 9 
    Caspases

    5/9 InterPro protein domains (see all 9):
     IPR001309 Pept_C14_ICE_p20
     IPR011029 DEATH-like_dom
     IPR017350 Caspase_IL-1_beta
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14_p45_core

    Graphical View of Domain Structure for InterPro Entry P55211

    ProtoNet protein and cluster: P55211

    3 Blocks protein domains:
    IPB001309 Caspase-1
    IPB001315 CARD interaction domain
    IPB002398 Interleukin-1B converting enzyme signature


    UniProtKB/Swiss-Prot: CASP9_HUMAN, P55211
    Similarity: Belongs to the peptidase C14A family
    Similarity: Contains 1 CARD domain


    CASP9 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CASP9_HUMAN, P55211
    Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9
    to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA
    damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase
    (PARP)
    Function: Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9
    Catalytic activity: Strict requirement for an Asp residue at position P1 and with a marked preference for His at
    position P2. It has a preferred cleavage sequence of Leu-Gly-His-Asp- -Xaa
    Enzyme regulation: Inhibited by the effector protein NleF that is produced by pathogenic E.coli; this inhibits
    apoptosis

         Genatlas biochemistry entry for CASP9:
    caspase 9,cysteine containing aspartate specific protease,widely expressed,activated by APAF1-cytochrome c
    multimeric complex,then initiating the apoptotic protease cascade by activating CASP3

         Enzyme Number (IUBMB): EC 3.4.22.621

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI10206961
    GO:0008047enzyme activator activity TAS9390557
    GO:0008233peptidase activity IDA--
    GO:0008234cysteine-type peptidase activity ----
         
    CASP9 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Casp9):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size 
     hematopoietic system  immune system  mortality/aging  nervous system  respiratory system 
     taste/olfaction 

    CASP9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CASP9: Casp9tm1Flv Casp9tm1Mak

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CASP9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CASP9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASP9 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASP9 

    miRNA
    Products:
        
    miRTarBase miRNAs that target CASP9:
    hsa-mir-133a (MIRT001986), hsa-let-7a (MIRT005294)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASP9
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CASP9:
    hsa-miR-214*
    SwitchGear 3'UTR luciferase reporter plasmidCASP9 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CASP9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASP9

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CASP9
    Sirion Biotech Validated adenovirus to knockdown CASP9 in human, mouse 
                         Customized adenovirus for overexpression of CASP9

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CASP9 (see all 13)
    OriGene ORF clones in mouse, rat for CASP9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CASP9 (NM_001229)
    Sino Biological Human cDNA Clone for CASP9
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP9
    Sirion Biotech Customized lentivirus for stable overexpression of CASP9 
                         Customized lentivirus expression plasmids for stable overexpression of CASP9 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CASP9
    Search LifeMap BioReagents cell lines for CASP9
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP9


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CASP9 About   (see all 77)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1TWEAK Pathway
    TWEAK Pathway0.87
    HIV-1 Nef- Negative effector of Fas and TNF-alpha0.46
    DR3 Signaling0.87
    Apoptotic Pathways Triggered By HIV10.42
    TNFR1 Pathway0.56
    Apoptosis through Death Receptors0.42
    TNF Signaling0.55
    TRAIL Pathway0.40
    2Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    FAS pathway and Stress induction of HSP regulation0.44
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    3Development IGF-RI signaling
    Development IGF-RI signaling0.49
    Development IGF-1 receptor signaling0.48
    Signal transduction AKT signaling0.49
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.61
    Alzheimer's disease0.46
    Huntington's disease0.47
    Alzheimers Disease0.44
    5Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.69
    NOD pathway0.33
    NOD1/2 Signaling Pathway0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/11 EMD Millipore Pathways for CASP9 (see all 11)
        Apoptosis and survival NGF signaling pathway
    Signal transduction PTEN pathway
    Apoptosis and survival Role of CDK5 in neuronal death and survival
    Apoptosis and survival FAS signaling cascades
    Apoptosis and survival Lymphotoxin-beta receptor signaling

    2 R&D Systems Pathways for CASP9
        Apoptosis Signaling Pathways
    VEGF - VEGF R2 Signaling Pathways

    5/41 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CASP9 (see all 41)
        Caspase Cascade
    TWEAK Pathway
    14-3-3 Induced Apoptosis
    LT-BetaR Pathway
    Mitochondrial Apoptosis

    1 Cell Signaling Technology (CST) Pathway for CASP9
        Apoptosis and Autophagy

    3 Tocris Bioscience Pathways for CASP9
        Akt Pathway
    Apoptosis Pathway
    VEGF Pathway

    5/11 GeneGo (Thomson Reuters) Pathways for CASP9 (see all 11)
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades
    Signal transduction AKT signaling
    Signal transduction PTEN pathway
    Development IGF-1 receptor signaling

    5/21 BioSystems Pathways for CASP9 (see all 21)
        MAPK signaling pathway
    DNA damage response
    Apoptosis
    NOD pathway
    Apoptosis Modulation and Signaling

    4 Sino Biological Pathways for CASP9 
        TNF Signaling
    EGFR Signaling Pathway
    p53 Pathway
    Death Receptor Signaling

    5/45        Reactome Pathways for CASP9 (see all 45)
        Signaling by EGFR in Cancer
    Downstream signal transduction
    Cytochrome c-mediated apoptotic response
    Intrinsic Pathway for Apoptosis
    Signal Transduction

    1 PharmGKB Pathway for CASP9
        Celecoxib Pathway, Pharmacodynamics

    5/21         Kegg Pathways  (Kegg details for CASP9) (see all 21):
        p53 signaling pathway
    PI3K-Akt signaling pathway
    Apoptosis
    VEGF signaling pathway
    Alzheimer's disease


    CASP9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASP9

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

    5/92 Interacting proteins for CASP9 (P552111, 2, 3 ENSP000003302374) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APAF1O147271, 2, 3, ENSP000003530594EBI-516799,EBI-446492 MINT-15372 MINT-15373 MINT-24935 MINT-15374 MINT-7230217 I2D: score=8 STRING: ENSP00000353059
    CASP3P425742, 3, ENSP000003110324MINT-18815 I2D: score=4 STRING: ENSP00000311032
    CARD8Q9Y2G22, 3, ENSP000003519014MINT-17223 I2D: score=2 STRING: ENSP00000351901
    XIAPP981701, 2, 3, ENSP000003478584EBI-516799,EBI-517127 MINT-15875 MINT-25026 MINT-15874 I2D: score=7 STRING: ENSP00000347858
    BIRC7Q96CA51, 3, ENSP000002171694EBI-516799,EBI-517623 I2D: score=3 STRING: ENSP00000217169
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006915apoptotic process TAS8663294
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process ----
    GO:0006974response to DNA damage stimulus IDA15657060
    GO:0007173epidermal growth factor receptor signaling pathway TAS--

    CASP9 for ontologies           About GeneDecksing



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

    CASP9 for compounds           About GeneDecksing

    EMD Millipore small molecules for CASP9:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for CASP9

    Compounds for CASP9 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AZ 10417808Selective non-peptide caspase-3 inhibitor[331645-84-2]
    Z-DQMD-FMKCaspase-3 inhibitor--
    CisplatinPotent pro-apoptotic anticancer agent; activates caspase-3[15663-27-1]
    Z-DEVD-FMK Cell-permeable, irreversible caspase-3 inhibitor --
    Z-VAD-FMK Cell-permeable, irreversible caspase inhibitor [187389-52-2]

    1 IUPHAR Ligand for CASP9 (Caspase 9)    About this table 
    LigandTypeActionAffinityPubmed IDs
    Z-LEHD-FMK
    InhibitorInhibition10807653

    10/163 Novoseek inferred chemical compound relationships for CASP9 gene (see all 163)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adpribose 80.6 61 14637187 (1), 16418332 (1), 18069112 (1), 18276737 (1) (see all 60)
    bongkrekic acid 75.8 5 11861382 (1), 15289292 (1), 18534571 (1), 17431216 (1) (see all 5)
    z-vad-fmk 73.8 6 15075347 (1), 12171907 (1), 16973565 (1)
    sp 600125 69.3 5 18569012 (1), 16624850 (1), 15197348 (1), 18594007 (1) (see all 5)
    n acetylcysteine 67.9 16 17142968 (1), 11461973 (1), 12850239 (1), 17904098 (1) (see all 10)
    phosphatidylserine 67.7 16 11734450 (1), 16956122 (1), 11432865 (1), 15356656 (1) (see all 16)
    noxa 67.4 1 17545623 (1)
    methylseleninic acid 62.4 2 14583501 (1), 15845651 (1)
    ly294002 60.7 10 20412566 (2), 18492488 (1), 10473597 (1), 12438947 (1) (see all 9)
    oxygen 59.4 50 14598320 (2), 12424221 (1), 15572588 (1), 11877388 (1) (see all 48)

    Search CenterWatch for drugs/clinical trials and news about CASP9

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CASP9 gene (3 alternative transcripts): 
    NM_001229.4  NM_001278054.1  NM_032996.3  

    Unigene Cluster for CASP9:

    Caspase 9, apoptosis-related cysteine peptidase
    Hs.329502  [show with all ESTs]
    Unigene Representative Sequence: AB209147
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546424(uc001awm.2 uc001awn.3 uc001awo.3 uc001awp.3 uc009voi.3)
    ENST00000333868(uc010obm.2) ENST00000348549 ENST00000400777 ENST00000424908
    ENST00000375890 ENST00000474305 ENST00000447522 ENST00000440484 ENST00000546969
    ENST00000469637
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB015653.1 AB020979.1 AB209147.1 AF093130.1 AF110376.1 AK292080.1 AK292111.1 AK303743.1 
    BC002452.2 BC006463.1 BT006911.1 U56390.1 U60521.1 

    10 DOTS entries:

    DT.446743  DT.95081879  DT.100797677  DT.91753480  DT.70105224  DT.100797676  DT.121349031  DT.40119968 
    DT.97794336  DT.99928425 

    24/149 AceView cDNA sequences (see all 149):

    AI564833 AA977799 AA281152 BI223119 AA554887 BE397303 AW274170 AI378362 
    BI917769 BF223116 CB217125 AW614618 AI520705 AI917505 AA905092 BM695851 
    AF093130 AA534393 CR597028 AA489446 NM_001229 BT006911 BE220102 AW274517 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CASP9 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for CASP9

    (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

    CASP9 expression in normal human tissues (normalized intensities)      CASP9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGGCCAGG
    CASP9 Expression
    About this image


    CASP9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Adrenal Gland (Endocrine System)    fully expand to see all 2 entries
             Adrenal Cortex   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             retinal progenitor cell e12.5   
     
     Tooth (Integumentary System)
             Primary Enamel Knot Cells Enamel Knot

    See CASP9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CASP9

    SOURCE GeneReport for Unigene cluster: Hs.329502

    UniProtKB/Swiss-Prot: CASP9_HUMAN, P55211
    Tissue specificity: Ubiquitous, with highest expression in the heart, moderate expression in liver, skeletal
    muscle, and pancreas. Low levels in all other tissues. Within the heart, specifically expressed in myocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including CASP9 (see all 10): 
              Parkinson's Disease in human mouse rat
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              VEGF Signaling in human mouse rat
              Apoptosis in human mouse rat
              p53 Signaling Pathway in human mouse rat

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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 CASP9 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casp91 , 5 caspase 91, 5 81.57(n)1
    78.61(a)1
      4 (74.75 cM)5
    123711  NM_015733.41  NP_056548.21 
     1417936125 
    chicken
    (Gallus gallus)
    Aves CASP91 caspase 9, apoptosis-related cysteine peptidase 61.99(n)
    55.69(a)
      426970  XM_424580.3  XP_424580.3 
    lizard
    (Anolis carolinensis)
    Reptilia CASP96
    caspase 9, apoptosis-related cysteine peptidase
    50(a)
    1 ↔ 1
    AAWZ02040620(216-5509)
    African clawed frog
    (Xenopus laevis)
    Amphibia casp9-A2 caspase-9 74.53(n)    AB038172.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.160352 Transcribed sequence with weak similarity to protein more 78.89(n)    CA470968.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta decay6
    Dredd6
    Death related ced-3/Nedd2-like protein
    26(a)
    14(a)
    1 ↔ many
    1 ↔ many
    3R(12324780-12327394)
    X(527553-529760)


    ENSEMBL Gene Tree for CASP9 (if available)
    TreeFam Gene Tree for CASP9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CASP9 gene
    CASP162  CASP62  CASP82  CASP122  CASP72  CASP32  CASP22  CASP142  
    CASP12  CASP52  CASP102  CASP42  
    6 SIMAP similar genes for CASP9 using alignment to 7 protein entries:     CASP9_HUMAN (see all proteins):
    CASPASE-9c    DKFZp686N1815    CASP3    CASP2    DKFZp586A181    CASP7

    CASP9 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) 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

    10/889 SNPs in CASP9 are shown (see all 889)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0591984
    ----see VAR_0591982 F L mis40--------
    rs46461041,2
    C--14338608(-) CTGACAT/-GTGGG 5 -- ut31 nc-transcript-variant1Minor allele frequency- -:0.01NS 170
    rs22347231,2
    C,F--14339798(-) TGGGGG/-TGAGC 5 -- int13Minor allele frequency- -:0.41NA NS CSA 992
    rs600689851,2
    C--14342129(+) GGGTT-/CATAAG 5 -- int10--------
    rs607407071,2
    C--14342169(+) CAATT-/GATGCA 5 -- int10--------
    rs1431013041,2
    C--14343637(+) AAAAA-/A/T/TA
            
    AAAAA
    5 -- int10--------
    rs2010574221,2
    --14343639(+) AAAAA-/TAAAAG 5 -- int10--------
    rs574475101,2
    C--14343640(+) AAAAA-/TAAAGA 5 -- int10--------
    rs346677791,2
    C--14344346(+) AGGCAT/-TTTTT 5 -- int11Minor allele frequency- -:0.50CSA 2
    rs46460811,2
    C,F--14346114(-) TATAT-/ATTTTT 5 -- int12Minor allele frequency- A:0.17NS CSA 158

    HapMap Linkage Disequilibrium report for CASP9 (15817327 - 15853029 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CASP9:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833536CNV Loss17160897


    Human Gene Mutation Database (HGMD): CASP9
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    (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.)
    About This Section
    OMIM gene information: 602234    OMIM disorders: --

    20/130 diseases for CASP9 (see all 130):    About MalaCards
    thoracic cancer    cerebral hypoxia    ewing's family of tumors    back pain
    talipes equinovarus    ovarian epithelial cancer    childhood medulloblastoma    varicocele
    glanders    japanese encephalitis    myocardial infarction    medulloblastoma
    arteriovenous malformation    clubfoot    oral cancer    pneumonia
    status epilepticus    brain ischemia    toxic encephalopathy    myeloma

    2 diseases from the University of Copenhagen DISEASES database for CASP9:
    Cancer     Vascular disease

    CASP9 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/85 Novoseek inferred disease relationships for CASP9 gene (see all 85)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 68.9 47 17955373 (2), 11346470 (2), 11410874 (2), 15325294 (1) (see all 37)
    leukemia 66.2 23 17332322 (2), 11302692 (1), 15827335 (1), 18799030 (1) (see all 21)
    necrosis 66.1 34 17403866 (3), 18206660 (2), 11399776 (1), 11804874 (1) (see all 30)
    tumors 65.7 82 11896617 (6), 10815928 (2), 11723234 (2), 15523899 (2) (see all 60)
    colon cancer 61.1 10 11381362 (2), 12881229 (1), 17186548 (1), 15824729 (1) (see all 8)
    promyelocytic leukemia 58.8 1 11750088 (1)
    glioblastoma 54.4 11 11772428 (3), 18814044 (2), 18164543 (1), 15523899 (1) (see all 7)
    prostate cancer 52.7 14 20437871 (2), 10861750 (1), 16322271 (1), 16891474 (1) (see all 12)
    myeloid leukemia 49 1 17156654 (1)
    breast cancer 44.6 23 16309219 (2), 17767197 (1), 19013426 (1), 20021858 (1) (see all 21)

    Genetic Association Database (GAD): CASP9
    Human Genome Epidemiology (HuGE) Navigator: CASP9 (48 documents)

    Export disorders for CASP9 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 CASP9 gene, integrated from 9 sources (see all 1786):
    (articles sorted by number of sources associating them with CASP9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ICE-LAP6, a novel member of the ICE/Ced-3 gene family, is activated by the cytotoxic T cell protease granzyme B. (PubMed id 8663294)1, 2, 3 Duan H.... Dixit V.M. (1996)
    2. A caspase-9 variant missing the catalytic site is an endogenous inhibitor of apoptosis. (PubMed id 9890966)1, 2, 9 Seol D.W. and Billiar T.R. (1999)
    3. Caspase 9 promoter polymorphisms and risk of primary lung cancer. (PubMed id 16687442)1, 4, 9 Park J.Y....Jung T.H. (2006)
    4. c-Abl tyrosine kinase regulates caspase-9 autocleavage in the apoptotic response to DNA damage. (PubMed id 15657060)1, 2, 9 Raina D....Kufe D. (2005)
    5. Inhibition of caspase-9 through phosphorylation at Thr 125 by ERK MAPK. (PubMed id 12792650)1, 2, 9 Allan L.A....Clarke P.R. (2003)
    6. Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade. (PubMed id 9390557)1, 3, 9 Li P....Wang X. (1997)
    7. CASP-9: A susceptibility locus for multiple sclerosis in Italy. (PubMed id 19359048)1, 4, 9 Andreoli V....Quattrone A. (2009)
    8. Caspase 9 and Caspase 8 Gene Polymorphisms and Susceptibility to Bladder Cancer in North Indian Population. (PubMed id 19412632)1, 4, 9 Gangwar R....Mittal R.D. (2009)
    9. Identification of an endogenous dominant-negative short isoform of caspase-9 that can regulate apoptosis. (PubMed id 10070954)1, 2, 9 Srinivasula S.M.... Alnemri E.S. (1999)
    10. TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin. (PubMed id 19052714)1, 4, 9 Kim J.G....Yu W. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 842 HGNC: 1511 AceView: CASP9 Ensembl:ENSG00000132906 euGenes: HUgn842
    ECgene: CASP9 Kegg: 842 H-InvDB: CASP9

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for CASP9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CASP9 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/casp9/
    Wikipedia http://en.wikipedia.org/wiki/Caspase-9

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CASP9 gene:
    Search GeneIP for patents involving CASP9

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    About This Section

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