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    CASP9 caspase 9, apoptosis-related cysteine peptidase [ Homo sapiens ]

    Gene ID: 842, updated on 19-May-2012
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    Summary

    Official Symbol
    CASP9provided by HGNC
    Official Full Name
    caspase 9, apoptosis-related cysteine peptidaseprovided by HGNC
    Primary source
    HGNC:1511
    Locus tag
    RP11-265F14.3
    See related
    Ensembl:ENSG00000132906; HPRD:03756; MIM:602234; Vega:OTTHUMG00000002256
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCH6; APAF3; APAF-3; PPP1R56; ICE-LAP6; CASPASE-9c
    Summary
    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 is processed by caspase APAF1; this step is thought to be one of the earliest in the caspase activation cascade. Alternative splicing results in two transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    1p36.21
    Sequence :
    Chromosome: 1; NC_000001.10 (15818769..15851285, complement)
    See CASP9 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene chymotrypsin-like elastase family, member 2A Neighboring gene chymotrypsin-like elastase family, member 2B Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 16 Neighboring gene agmatine ureohydrolase (agmatinase) Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Role of caspase 9 in activation of HTLV-1 LTR expression by DNA damaging agents. Abou-Kandil A, et al. Cell Cycle, 2011 Oct 1. PMID 21957492.
    2. Small molecular anticancer agent SKLB703 induces apoptosis in human hepatocellular carcinoma cells via the mitochondrial apoptotic pathway invitro and inhibits tumor growth invivo. Xu YZ, et al. Cancer Lett, 2011 Dec 26. PMID 21944661.
    3. The IAP-antagonist ARTS initiates caspase activation upstream of cytochrome C and SMAC/Diablo. Edison N, et al. Cell Death Differ, 2012 Feb. PMID 21869827.
    4. Sperm caspase-9 in oligoasthenoteratozoospermic men with and without varicocele. Zalata A, et al. Fertil Steril, 2011 Nov. PMID 21868008.
    5. The holo-apoptosome: activation of procaspase-9 and interactions with caspase-3. Yuan S, et al. Structure, 2011 Aug 10. PMID 21827945.

    See all (245) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Translocation of ARTS initiates a first wave of caspase activation leading to the subsequent release of additional mitochondrial factors, including cytochrome C and SMAC/Diablo.
      Title: The IAP-antagonist ARTS initiates caspase activation upstream of cytochrome C and SMAC/Diablo.
    2. The ectopic expression of caspase 9 induced the formation of the sp1-p53 complex and that this complex binds to the sp1 recognition site residing within the ERR-1 of the LTR.
      Title: Role of caspase 9 in activation of HTLV-1 LTR expression by DNA damaging agents.
    3. Mechanistic studies showed that MLN2238-triggered apoptosis is associated with activation of caspase-3, caspase-8, and caspase-9.
      Title: In vitro and in vivo selective antitumor activity of a novel orally bioavailable proteasome inhibitor MLN9708 against multiple myeloma cells.
    4. p53 mediates DNA damaging doxorubicin-induced apoptosis in neurobblastoma IMR32 cells through the caspase-9 pathway.
      Title: Essential role for p53 and caspase-9 in DNA damaging drug-induced apoptosis in neuroblastoma IMR32 cells.
    5. Data indicate that NGA could increase the expression of the apoptosis-related proteins FasL, caspase-3, caspase-8, caspase-9, and Bax and decrease the expression of anti-apoptotic protein Bcl-2 accompanied by the mitochondrial transmembrane damage.
      Title: The mechanism of neogambogic acid-induced apoptosis in human MCF-7 cells.
    6. Data show that the proliferation inhibitory effect of SKLB703 was associated with its apoptosis-inducing effect by activating caspase-3 and caspase-9.
      Title: Small molecular anticancer agent SKLB703 induces apoptosis in human hepatocellular carcinoma cells via the mitochondrial apoptotic pathway invitro and inhibits tumor growth invivo.
    7. DNA fragmentation was accompanied by increased caspase-9 and caspase-3 activities.
      Title: Mechanism of pyrethroid pesticide-induced apoptosis: role of calpain and the ER stress pathway.
    8. Sperm caspase-9 is up-regulated in oligoasthenoteratozoospermic men with varicocele.
      Title: Sperm caspase-9 in oligoasthenoteratozoospermic men with and without varicocele.
    9. The association between CASP8 and CASP9 gene polymorphisms and colorectal cancer (CRC) susceptibility, was investigated.
      Title: Polymorphisms of caspase 8 and caspase 9 gene and colorectal cancer susceptibility and prognosis.
    10. In addition to increased caspase-3 like activity as assessed by the cleavage of DEVD-pNA, caspase-9 was also cleaved indicating the activation of the intrinsic apoptosis pathway.
      Title: Concomitant activation of caspase-9 and down-regulation of IAP proteins as a mechanism of apoptotic death in HepG2, T47D and HCT-116 cells upon exposure to a derivative from 4-aryl-4H-chromenes family.
    Submit: New GeneRIF Correction See all (139)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The interaction of cell-associated HIV-1 gp120 with CXCR4-expressing target cells triggers apoptotic processes by activating caspase-9 and -3 PubMed
    Nef nef Microarray analyses have shown HIV-1 Nef-induced upregulation of caspase-9 in primary human brain microvascular endothelial cells PubMed
    Vpr vpr Overproduction of EEF2 blocks HIV-1 Vpr-induced cell death both in fission yeast and human cells, suppresses caspase 9 and caspase 3-mediated apoptosis induced by Vpr, and reduces cytochrome c release induced by Vpr PubMed
    vpr HIV-1 Vpr-induced apoptosis through caspase activation and Smac release from mitochondria is dependent on G2 cell cycle arrest , but is lost in cells synchronized in G1/S PubMed
    vpr HIV-1 Vpr induces apoptosis through activation of caspase 9 as well as by increasing the overall expression level of caspase 9 PubMed
    retropepsin gag-pol HIV-1 protease directly cleaves and activates procaspase 8 in T cells which is associated with cleavage of BID, mitochondrial release of cytochrome c, activation of the downstream caspases 9 and 3, and cleavage of DFF and PARP PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001220.2 NP_863651.1 APAF1    BIND  PubMed APAF1 interacts with CASP9. 
    NP_001220.2 NP_863658.1 APAF1    BIND  PubMed APAF1 interacts with CASP9. 
    NP_001220.2 NP_057336.1 BIRC6    BIND  PubMed Apollon interacts with and ubiquitinates Caspase-9. 
    NP_001220.2 NP_006083.1 NOD1    BIND  PubMed Nod1 interacts with and regulates Caspase-9 
    NP_001220.2 NP_000312.1 RB1    BIND  PubMed CASP9 (caspase-9) cleaves RB-1 (hRB) at the LEND consensus site to produce the p76 form. 
    NP_001220.2 NP_001158.2 XIAP    BIND  PubMed XIAP interacts with and ubiquitinates Caspase-9. 
    P55211 P00519 ABL1    HPRD  PubMed  
    P55211 P31749 AKT1    HPRD  PubMed  
    P55211 O14727 APAF1    HPRD  PubMed  
    P55211 O95999 BCL10    HPRD  PubMed  
    P55211 Q07817 BCL2L1    HPRD  PubMed  
    P55211 Q13490 BIRC2    HPRD  PubMed  
    P55211 Q13489 BIRC3    HPRD  PubMed  
    P55211 O15392 BIRC5    HPRD  PubMed  
    P55211 Q9NR09 BIRC6    HPRD  PubMed  
    P55211 Q96CA5 BIRC7    HPRD  PubMed  
    P55211 Q96P09 BIRC8    HPRD  PubMed  
    P55211 P17655 CAPN2    HPRD  PubMed  
    P55211 Q9Y2G2 CARD8    HPRD  PubMed  
    P55211 Q92851 CASP10    HPRD  PubMed  
    P55211 P42574 CASP3    HPRD  PubMed  
    P55211 P55211 CASP9    HPRD  PubMed  
    P55211 P99999 CYCS    HPRD  PubMed  
    P55211 P43146 DCC    HPRD  PubMed  
    P55211 Q9NR28 DIABLO    HPRD  PubMed  
    P55211 P15924 DSP    HPRD  PubMed  
    P55211 Q9Y692 GMEB1    HPRD  PubMed  
    P55211 P10144 GZMB    HPRD  PubMed  
    P55211 O00291 HIP1    HPRD  PubMed  
    P55211 P10809 HSPD1    HPRD  PubMed  
    P55211 Q13418 ILK    HPRD  PubMed  
    P55211 P07948 LYN    HPRD  PubMed  
    P55211 Q02750 MAP2K1    HPRD  PubMed  
    P55211 P36507 MAP2K2    HPRD  PubMed  
    P55211 P28482 MAPK1    HPRD  PubMed  
    P55211 P27361 MAPK3    HPRD  PubMed  
    P55211 Proapoptotic caspase adaptor protein MZB1    HPRD  PubMed  
    P55211 Q13075 NAIP    HPRD  PubMed  
    P55211 Q9C000 NLRP1    HPRD  PubMed  
    P55211 Q9Y239 NOD1    HPRD  PubMed  
    P55211 Q05513 PRKCZ    HPRD  PubMed  
    P55211 P06400 RB1    HPRD  PubMed  
    P55211 P11831 SRF    HPRD  PubMed  
    P55211 P08670 VIM    HPRD  PubMed  
    P55211 P98170 XIAP    HPRD  PubMed  
    BioGRID:107292 BioGRID:106814 APAF1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107292 BioGRID:107070 BCL2L1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107292 BioGRID:106826 BIRC2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107292 BioGRID:106827 BIRC3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107292 BioGRID:106829 BIRC5    BioGRID  PubMed Affinity Capture-Western 
    NP_057336.1 BIRC6    BIND  PubMed BRUCE interacts with Casp-9. This interaction was modeled on a demonstrated interaction between mouse BRUCE and human Casp-9. 
    BioGRID:107292 BioGRID:121521 BIRC6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107292 BioGRID:122670 BIRC7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107292 BioGRID:125186 BIRC8    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107292 BioGRID:107293 CASP10    BioGRID  PubMed Biochemical Activity 
    BioGRID:107292 BioGRID:107285 CASP2    BioGRID  PubMed Phenotypic Suppression 
    BioGRID:107292 BioGRID:107291 CASP8    BioGRID  PubMed Biochemical Activity; Phenotypic Suppression 
    BioGRID:107292 BioGRID:107998 DCC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107292 BioGRID:111580 MAPK1    BioGRID  PubMed Biochemical Activity 
    BioGRID:107292 BioGRID:110752 NAIP    BioGRID  PubMed Far Western 
    BioGRID:107292 BioGRID:116529 NLRP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107292 BioGRID:115664 NOD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107292 BioGRID:111972 RNF2    BioGRID  PubMed Biochemical Activity 
    BioGRID:107292 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107292 BioGRID:106828 XIAP    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Far Western; Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • AKT phosphorylates targets in the cytosol, organism-specific biosystem (from REACTOME)
      AKT phosphorylates targets in the cytosol, organism-specific biosystemFollowing activation, AKT can phosphorylate an array of target proteins in the cytoplasm, many of which are involved in cell survival control. Phosphorylation of TSC2 feeds positively to the TOR kina...
    • Activation of caspases through apoptosome-mediated cleavage, organism-specific biosystem (from REACTOME)
      Activation of caspases through apoptosome-mediated cleavage, organism-specific biosystemProcaspase-3 and 7 are cleaved by the apoptosome.
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
      Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
      Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis Modulation by HSP70, organism-specific biosystem (from WikiPathways)
      Apoptosis Modulation by HSP70, organism-specific biosystem
      Apoptosis Modulation by HSP70
    • Apoptotic factor-mediated response, organism-specific biosystem (from REACTOME)
      Apoptotic factor-mediated response, organism-specific biosystemIn response to apoptotic signals, mitochondrial proteins are released into the cytosol and activate both caspase-dependent and -independent cell death pathways. Cytochrome c induces apoptosome form...
    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
    • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
      Caspase cascade in apoptosis, organism-specific biosystem
      Caspase cascade in apoptosis
    • Class I PI3K signaling events mediated by Akt, organism-specific biosystem (from Pathway Interaction Database)
      Class I PI3K signaling events mediated by Akt, organism-specific biosystem
      Class I PI3K signaling events mediated by Akt
    • Colorectal cancer, organism-specific biosystem (from KEGG)
      Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Colorectal cancer, conserved biosystem (from KEGG)
      Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Cytochrome c-mediated apoptotic response, organism-specific biosystem (from REACTOME)
      Cytochrome c-mediated apoptotic response, organism-specific biosystemUpon its release from the mitochondrial intermembrane space, Cytochrome c binds to and causes a conformational change in the cytoplasmic protein Apaf1. This conformational change allows the Cytochrom...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Downstream Signaling Events Of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Downstream Signaling Events Of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • Downstream signaling of activated FGFR, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • Endometrial cancer, organism-specific biosystem (from KEGG)
      Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
    • Endometrial cancer, conserved biosystem (from KEGG)
      Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
    • FAS pathway and Stress induction of HSP regulation, organism-specific biosystem (from WikiPathways)
      FAS pathway and Stress induction of HSP regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
    • Formation of apoptosome, organism-specific biosystem (from REACTOME)
      Formation of apoptosome, organism-specific biosystemCytoplasmic cytochrome c binds to apoptotic protease activating factor-1 (Apaf-1) promoting the formation of an Apaf-1 oligomer (the apoptosome) which in turn binds and activates caspase-9.
    • GAB1 signalosome, organism-specific biosystem (from REACTOME)
      GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
    • HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem (from Pathway Interaction Database)
      HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem
      HIV-1 Nef: Negative effector of Fas and TNF-alpha
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • IL-6 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-6 Signaling Pathway, organism-specific biosystemInterleukin-6 belongs to a family of cytokines which includes IL-11, ciliary neurotrophic factor (CNTF), cardiotropin-1, cardiotrophin-like cytokine, leukemia inhibitory factor (LIF) and Oncostatin M...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
      Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Intrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
      Intrinsic Pathway for Apoptosis, organism-specific biosystemThe intrinsic (Bcl-2 inhibitable or mitochondrial) pathway of apoptosis functions in response to various types of intracellular stress including growth factor withdrawal, DNA damage, unfolding stress...
    • Legionellosis, organism-specific biosystem (from KEGG)
      Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • Legionellosis, conserved biosystem (from KEGG)
      Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • NOD1/2 Signaling Pathway, organism-specific biosystem (from REACTOME)
      NOD1/2 Signaling Pathway, organism-specific biosystemNOD1 is ubiquitously expressed, while NOD2 expression is restricted to monocytes, macrophages, dendritic cells, and intestinal Paneth cells (Inohara et al. 2005). NOD1 and NOD2 activation induces tra...
    • Non-small cell lung cancer, organism-specific biosystem (from KEGG)
      Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Non-small cell lung cancer, conserved biosystem (from KEGG)
      Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
      Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
    • PI-3K cascade, organism-specific biosystem (from REACTOME)
      PI-3K cascade, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
    • PI3K events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
      PI3K events in ERBB2 signaling, organism-specific biosystemERBB2:ERBB3 and ERBB2:ERBB4cyt1 heterodimers activate PI3K signaling by direct binding of PI3K regulatory subunit p85 (Yang et al. 2007, Cohen et al. 1996, Kaushansky et al. 2008) to phosphorylated t...
    • PI3K events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
      PI3K events in ERBB4 signaling, organism-specific biosystemThe CYT1 isoforms of ERBB4 possess a C-tail tyrosine residue that, upon trans-autophosphorylation, serves as a docking site for the p85 alpha subunit of PI3K - PIK3R1 (Kaushansky et al. 2008, Cohen e...
    • PI3K/AKT activation, organism-specific biosystem (from REACTOME)
      PI3K/AKT activation, organism-specific biosystemPI3K/AKT signalling is a major regulator of neuron survival. It blocks cell death by both impinging on the cytoplasmic cell death machinery and by regulating the expression of genes involved in cell...
    • PIP3 activates AKT signaling, organism-specific biosystem (from REACTOME)
      PIP3 activates AKT signaling, organism-specific biosystemSignaling by AKT is one of the key outcomes of activation of receptor tyrosine kinases (RTKs). Following ligand binding and autophosphorylation, RTKs recruit the 85 kDa regulatory subunit of PI3K (PI...
    • Pancreatic cancer, organism-specific biosystem (from KEGG)
      Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pancreatic cancer, conserved biosystem (from KEGG)
      Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Prostate cancer, organism-specific biosystem (from KEGG)
      Prostate cancer, organism-specific biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Prostate cancer, conserved biosystem (from KEGG)
      Prostate cancer, conserved biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Regulation of Apoptosis, organism-specific biosystem (from REACTOME)
      Regulation of Apoptosis, organism-specific biosystemA regulated balance between cell survival and apoptosis is essential for normal development and homeostasis of multicellular organisms (see Matsuzawa, 2001). Defects in control of this balance may...
    • Role of DCC in regulating apoptosis, organism-specific biosystem (from REACTOME)
      Role of DCC in regulating apoptosis, organism-specific biosystemIn the presence of Netrin1, DCC and UNC5 generate attractive and repulsive signals to growing axons. In the absence of Netrin-1, DCC induces cell death signaling initiated via caspase cleavage of DCC...
    • SMAC binds to IAPs, organism-specific biosystem (from REACTOME)
      SMAC binds to IAPs, organism-specific biosystemSMAC binds to the XIAP:caspase complexes.
    • SMAC-mediated apoptotic response, organism-specific biosystem (from REACTOME)
      SMAC-mediated apoptotic response, organism-specific biosystemOnce released from the mitochondria, SMAC binds to IAP family proteins displacing them from Caspase:IAP complexes liberating the active caspases.
    • SMAC-mediated dissociation of IAP:caspase complexes, organism-specific biosystem (from REACTOME)
      SMAC-mediated dissociation of IAP:caspase complexes, organism-specific biosystemSmac/DIABLO regulates IAP function. Residues 56â??59 of Smac/DIABLO are homologous to the amino-terminal motif that is used by caspase-9 to bind to the BIR3 domain of XIAP. Binding of Smac/DIABLO to...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
    • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
      Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
      Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • VEGF signaling pathway, organism-specific biosystem (from KEGG)
      VEGF signaling pathway, organism-specific biosystemThere is now much evidence that VEGFR-2 is the major mediator of VEGF-driven responses in endothelial cells and it is considered to be a crucial signal transducer in both physiologic and pathologic a...
    • VEGF signaling pathway, conserved biosystem (from KEGG)
      VEGF signaling pathway, conserved biosystemThere is now much evidence that VEGFR-2 is the major mediator of VEGF-driven responses in endothelial cells and it is considered to be a crucial signal transducer in both physiologic and pathologic a...
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
      p75(NTR)-mediated signaling, organism-specific biosystem
      p75(NTR)-mediated signaling

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enzyme activator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c TAS
    Traceable Author Statement
    more info
    		  
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    induction of apoptosis by intracellular signals TAS
    Traceable Author Statement
    more info
    		  
    nerve growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of neuron apoptosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to UV IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    apoptosome IDA
    Inferred from Direct Assay
    more info
    		  
    cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    soluble fraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    caspase-9
    Names
    caspase-9
    apoptotic protease MCH-6
    ICE-like apoptotic protease 6
    apoptotic protease activating factor 3
    protein phosphatase 1, regulatory subunit 56
    NP_001220.2
    NP_127463.2
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029188.1 RefSeqGene

      Range
      5001..37517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001229.3 → NP_001220.2  caspase-9 isoform alpha preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) represents the longer transcript and encodes the longer isoform (alpha).
      Source sequence(s)
      AA534393, AB209147, BC006463
      Consensus CDS
      CCDS158.1
      UniProtKB/Swiss-Prot
      P55211
      UniProtKB/TrEMBL
      Q59GG2
      Related
      ENSP00000330237, OTTHUMP00000002322, ENST00000333868, OTTHUMT00000006438
      Conserved Domains (2) summary
      cd00032
      Location:152 – 414
      Blast Score: 736
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...
      cd08326
      Location:17 – 90
      Blast Score: 318
      CARD_CASP9; Caspase activation and recruitment domain of Caspase-9

    2. NM_032996.2 → NP_127463.2  caspase-9 isoform beta preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant alpha. The encoded isoform (beta) has a shorter N-terminus, compared to isoform alpha.
      Source sequence(s)
      AA534393, AK303743, DA078665, U60521
      Consensus CDS
      CCDS159.2
      UniProtKB/TrEMBL
      B4E1A3
      UniProtKB/Swiss-Prot
      P55211
      Related
      ENSP00000365051, OTTHUMP00000242819, ENST00000375890, OTTHUMT00000407261
      Conserved Domains (1) summary
      cd00032
      Location:69 – 331
      Blast Score: 737
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      15818769..15851285, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      14338260..14370798, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB019205.2 BAA82697.1
    genomic AL512883.5 CAC42423.1
      CAI12971.1
      CAI12972.1
      CAI12973.1
      CAI12974.1
    genomic AY214168.1 AAO21133.1
    genomic CH471167.1 EAW51730.1
      EAW51731.1
    mRNA AA534393.1 None
    mRNA AB015653.1 BAA78780.1
    mRNA AB020979.1 BAA87905.1
    mRNA AB209147.1 BAD92384.1
    mRNA AF093130.1 AAD12248.1
    mRNA AF110376.1 AAD13615.1
    mRNA AJ781267.1 CAH03131.1
    mRNA AK292080.1 BAF84769.1
    mRNA AK292111.1 BAF84800.1
    mRNA AK303743.1 BAG64715.1
    mRNA AY732490.2 AAV33129.1
    mRNA BC002452.2 AAH02452.1
    mRNA BC006463.1 AAH06463.1
    mRNA BT006911.1 AAP35557.1
    mRNA DA078665.1 None
    mRNA U56390.1 AAC50640.1
    mRNA U60521.1 AAC50776.1
    other-genetic DQ891693.2 ABM82619.1
    other-genetic HQ447255.1 ADQ31742.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55211.3 GenPept UniProtKB/Swiss-Prot:P55211
    Q59GG2 GenPept UniProtKB/TrEMBL:Q59GG2
    Q5JRU2 GenPept UniProtKB/TrEMBL:Q5JRU2
    Q5JRU8 GenPept UniProtKB/TrEMBL:Q5JRU8
    Q5UGI1 GenPept UniProtKB/TrEMBL:Q5UGI1
    Q6EV95 GenPept UniProtKB/TrEMBL:Q6EV95
    Help top of page

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

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