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Aliases for CASP9 Gene

Aliases for CASP9 Gene

  • Caspase 9 2 3 5
  • Caspase 9, Apoptosis-Related Cysteine Peptidase 2 3
  • Protein Phosphatase 1, Regulatory Subunit 56 2 3
  • ICE-Like Apoptotic Protease 6 3 4
  • ICE-LAP6 3 4
  • APAF-3 3 4
  • MCH6 3 4
  • Caspase 9, Apoptosis-Related Cysteine Protease 2
  • Apoptotic Protease Activating Factor 3 3
  • Apoptotic Protease-Activating Factor 3 4
  • Apoptotic Protease MCH-6 3
  • Apoptotic Protease Mch-6 4
  • EC 3.4.22.62 4
  • Caspase-9 3
  • PPP1R56 3
  • CASP-9 4
  • APAF3 3

External Ids for CASP9 Gene

Previous GeneCards Identifiers for CASP9 Gene

  • GC01M015216
  • GC01M014997
  • GC01M015086
  • GC01M015181
  • GC01M015688
  • GC01M015814
  • GC01M014338

Summaries for CASP9 Gene

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) is a Protein Coding gene. Diseases associated with CASP9 include Cervical Cancer, Somatic and Lung Cancer. Among its related pathways are Glioma and RET signaling. GO annotations related to this gene include protein kinase binding and peptidase activity. An important paralog of this gene is CASP10.

UniProtKB/Swiss-Prot for CASP9 Gene

  • 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).

  • Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9.

Tocris Summary for CASP9 Gene

  • Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

Gene Wiki entry for CASP9 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP9 Gene

Genomics for CASP9 Gene

Regulatory Elements for CASP9 Gene

Enhancers for CASP9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F015522 1.2 ENCODE 20.3 +1.2 1215 5.9 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ENSG00000237938 AGMAT CASP9 SPEN RPS16P1 ENSG00000224621 RPL22P3 RSG1 FBXO42 GC01P015468
GH01F015507 0.8 FANTOM5 ENCODE 19 +17.8 17755 2.1 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000237938 AGMAT CASP9 RPS16P1 CD24P1 ZBTB17 FBXO42 SPEN RPL22P3 ENSG00000224621
GH01F015515 1.1 Ensembl ENCODE 18.9 +11.1 11134 0.8 HDGF HDAC1 LEF1 PKNOX1 BMI1 FOXK2 SCRT1 RFX1 RNF2 JUNB CASP9 GC01P015468
GH01F015596 0.6 Ensembl ENCODE 15.5 -70.5 -70511 0.6 MEF2D MCM7 MCM3 ZNF48 SP7 CASP9 FBLIM1 ENSG00000251866 AGMAT SLC25A34 PIR41201
GH01F015583 0.2 ENCODE 14.9 -58.3 -58251 1.9 HDGF MLX ARID4B SIN3A DMAP1 ZNF48 ZNF121 SP5 MXD4 MIER2 AGMAT CASP9 PIR62159
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CASP9 on UCSC Golden Path with GeneCards custom track

Promoters for CASP9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001577216 -466 2001 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1
ENSR00000531161 1834 2201 HDGF PKNOX1 CREB3L1 WRNIP1 SIN3A ARID4B FEZF1 DMAP1 ZNF2 YY1

Genomic Location for CASP9 Gene

Chromosome:
1
Start:
15,490,832 bp from pter
End:
15,526,534 bp from pter
Size:
35,703 bases
Orientation:
Minus strand

Genomic View for CASP9 Gene

Genes around CASP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP9 Gene

Proteins for CASP9 Gene

  • Protein details for CASP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55211-CASP9_HUMAN
    Recommended name:
    Caspase-9
    Protein Accession:
    P55211
    Secondary Accessions:
    • B4E1A3
    • O95348
    • Q53Y70
    • Q5JRU9
    • Q5UGI1
    • Q92852
    • Q9BQ62
    • Q9UEQ3
    • Q9UIJ8

    Protein attributes for CASP9 Gene

    Size:
    416 amino acids
    Molecular mass:
    46281 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CASP9 Gene

    Alternative splice isoforms for CASP9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP9 Gene

Post-translational modifications for CASP9 Gene

  • 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.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Assay Products

  • Enzo Life Sciences assays for CASP9
  • Cloud-Clone Corp Assay Kits for CASP9

No data available for DME Specific Peptides for CASP9 Gene

Domains & Families for CASP9 Gene

Graphical View of Domain Structure for InterPro Entry

P55211

UniProtKB/Swiss-Prot:

CASP9_HUMAN :
  • Contains 1 CARD domain.
  • Belongs to the peptidase C14A family.
Domain:
  • Contains 1 CARD domain.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP9: view

Function for CASP9 Gene

Molecular function for CASP9 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the effector protein NleF that is produced by pathogenic E.coli; this inhibits apoptosis.
UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Function:
Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9.

Enzyme Numbers (IUBMB) for CASP9 Gene

Gene Ontology (GO) - Molecular Function for CASP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS 9390557
GO:0005515 protein binding IPI 9922454
GO:0008047 enzyme activator activity TAS 9390557
GO:0008233 peptidase activity IEA,IDA 20663920
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with CASP9: view
genes like me logo Genes that share phenotypes with CASP9: view

Animal Models for CASP9 Gene

MGI Knock Outs for CASP9:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASP9 Gene

Localization for CASP9 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASP9 Gene COMPARTMENTS Subcellular localization image for CASP9 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 4
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CASP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0043293 apoptosome IDA 21827945
genes like me logo Genes that share ontologies with CASP9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CASP9 Gene

Pathways & Interactions for CASP9 Gene

SuperPathways for CASP9 Gene

genes like me logo Genes that share pathways with CASP9: view

Pathways by source for CASP9 Gene

SIGNOR curated interactions for CASP9 Gene

Gene Ontology (GO) - Biological Process for CASP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process IEA,TAS 8663294
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 15657060
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with CASP9: view

Drugs & Compounds for CASP9 Gene

(99) Drugs for CASP9 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2690
Z-LEHD-FMK Pharma Inhibition, Inhibitor Irreversible Caspase-9 inhibitor. 0
Gambogic acid Pharma Caspase activator and apoptosis inducer 0
z-VAD-fmk Pharma Cell-permeable, irreversible pan-caspase inhibitor 0
Ac-LEHD-AFC Pharma Fluorogenic caspase substrate 0

(75) Additional Compounds for CASP9 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 101
110044-82-1

(3) Tocris Compounds for CASP9 Gene

Compound Action Cas Number
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 101 Calpain inhibitor; activates p53-dependent apoptosis 110044-82-1
PD 150606 Cell permeable calpain inhibitor 179528-45-1

(11) ApexBio Compounds for CASP9 Gene

Compound Action Cas Number
Ac-LEHD-AFC Fluorogenic caspase substrate 210345-03-2
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Boc-D-FMK Pan-caspase inhibitor 187389-53-3, 634911-80-1
Caspase-9 Inhibitor Z-LEHD-FMK Novel and selective caspase-9 inhibitor
Cisplatin Inhibits DNA synthesis,chemotherapy drug 15663-27-1
Gambogic Acid Caspase activator and apoptosis inducer 2752-65-0
Q-VD-OPh hydrate Cell-permeable, irreversible pan-caspase inhibitor 1135695-98-5
Tasisulam 519055-62-0
Z-DEVD-FMK Caspase-3 inhibitor 210344-95-9
Z-LEHD-FMK Irreversible Caspase-9 inhibitor. 210345-04-3
Z-VAD-FMK Cell-permeable, irreversible pan-caspase inhibitor 187389-52-2
genes like me logo Genes that share compounds with CASP9: view

Drug Products

Transcripts for CASP9 Gene

Unigene Clusters for CASP9 Gene

Caspase 9, apoptosis-related cysteine peptidase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASP9 Gene

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: - - - - - - -
SP6: -
SP7: - - - -

Relevant External Links for CASP9 Gene

GeneLoc Exon Structure for
CASP9
ECgene alternative splicing isoforms for
CASP9

Expression for CASP9 Gene

mRNA expression in normal human tissues for CASP9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP9 Gene

This gene is overexpressed in Ovary (x4.0).

Protein differential expression in normal tissues from HIPED for CASP9 Gene

This gene is overexpressed in Plasma (28.6), Peripheral blood mononuclear cells (12.0), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CASP9 Gene



Protein tissue co-expression partners for CASP9 Gene

NURSA nuclear receptor signaling pathways regulating expression of CASP9 Gene:

CASP9

SOURCE GeneReport for Unigene cluster for CASP9 Gene:

Hs.329502

mRNA Expression by UniProt/SwissProt for CASP9 Gene:

P55211-CASP9_HUMAN
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.
genes like me logo Genes that share expression patterns with CASP9: view

Primer Products

Orthologs for CASP9 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASP9 34 35
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia CASP9 34 35
  • 83.78 (n)
dog
(Canis familiaris)
Mammalia CASP9 34 35
  • 82.21 (n)
rat
(Rattus norvegicus)
Mammalia Casp9 34
  • 82.13 (n)
mouse
(Mus musculus)
Mammalia Casp9 34 16 35
  • 81.57 (n)
oppossum
(Monodelphis domestica)
Mammalia CASP9 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASP9 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASP9 34 35
  • 63.68 (n)
lizard
(Anolis carolinensis)
Reptilia CASP9 35
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia casp9-A 34
zebrafish
(Danio rerio)
Actinopterygii casp9 34 35
  • 55.7 (n)
Dr.16035 34
fruit fly
(Drosophila melanogaster)
Insecta Nc 35
  • 21 (a)
ManyToMany
Dredd 35
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ced-3 35
  • 23 (a)
ManyToMany
Species where no ortholog for CASP9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CASP9 Gene

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

Paralogs for CASP9 Gene

Paralogs for CASP9 Gene

genes like me logo Genes that share paralogs with CASP9: view

Variants for CASP9 Gene

Sequence variations from dbSNP and Humsavar for CASP9 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1052571 -- 15,524,118(-) GGACG(C/T)CCTGC intron-variant, nc-transcript-variant, reference, missense
rs1052574 -- 15,506,939(-) CTCGC(C/T)GCATT intron-variant, nc-transcript-variant, reference, missense
rs1052576 -- 15,506,048(-) GGCGC(A/G)GCAGG intron-variant, nc-transcript-variant, reference, missense
rs1052592 -- 15,492,375(-) AGAGT(C/T)TGAAC nc-transcript-variant, utr-variant-3-prime
rs1052596 -- 15,492,351(-) GAATT(C/T)TAAGT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CASP9 Gene

Variant ID Type Subtype PubMed ID
nsv1076153 CNV deletion 25765185
nsv1126181 CNV deletion 24896259
nsv833536 CNV loss 17160897
nsv954814 CNV deletion 24416366

Variation tolerance for CASP9 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.06; 84.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASP9 Gene

Human Gene Mutation Database (HGMD)
CASP9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP9 Gene

Disorders for CASP9 Gene

MalaCards: The human disease database

(19) MalaCards diseases for CASP9 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cervical cancer, somatic
  • cervical cancer
lung cancer
  • lung cancer, protection against
chronic mountain sickness
cerebral hypoxia
  • brain hypoxia
varicocele
  • scrotal varices
- elite association - COSMIC cancer census association via MalaCards
Search CASP9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CASP9

Genetic Association Database (GAD)
CASP9
Human Genome Epidemiology (HuGE) Navigator
CASP9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASP9
genes like me logo Genes that share disorders with CASP9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP9 Gene

Publications for CASP9 Gene

  1. CASP-9: A susceptibility locus for multiple sclerosis in Italy. (PMID: 19359048) Andreoli V. … Quattrone A. (J. Neuroimmunol. 2009) 3 22 46 64
  2. Caspase 9 promoter polymorphisms and risk of primary lung cancer. (PMID: 16687442) Park J.Y. … Jung T.H. (Hum. Mol. Genet. 2006) 3 22 46 64
  3. c-Abl tyrosine kinase regulates caspase-9 autocleavage in the apoptotic response to DNA damage. (PMID: 15657060) Raina D. … Kufe D. (J. Biol. Chem. 2005) 3 4 22 64
  4. Inhibition of caspase-9 through phosphorylation at Thr 125 by ERK MAPK. (PMID: 12792650) Allan L.A. … Clarke P.R. (Nat. Cell Biol. 2003) 3 4 22 64
  5. A caspase-9 variant missing the catalytic site is an endogenous inhibitor of apoptosis. (PMID: 9890966) Seol D.W. … Billiar T.R. (J. Biol. Chem. 1999) 3 4 22 64

Products for CASP9 Gene

  • Addgene plasmids for CASP9

Sources for CASP9 Gene

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