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Aliases for CASP9 Gene

Aliases for CASP9 Gene

  • Caspase 9, Apoptosis-Related Cysteine Peptidase 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
  • Protein Phosphatase 1, Regulatory Subunit 56 3
  • Apoptotic Protease Activating Factor 3 3
  • Apoptotic Protease-Activating Factor 3 4
  • Apoptotic Protease MCH-6 3
  • Apoptotic Protease Mch-6 4
  • Protein Phosphatase 1 2
  • Regulatory Subunit 56 2
  • EC 3.4.22.62 4
  • 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, Apoptosis-Related Cysteine Peptidase) is a Protein Coding gene. Diseases associated with CASP9 include cerebral hypoxia and dystrophinopathies. Among its related pathways are PI3K-Akt signaling pathway and PI3K/AKT Signaling in Cancer. GO annotations related to this gene include protein kinase binding and peptidase activity. An important paralog of this gene is CASP1.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CASP9 Gene at MOPED

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 IDA 20663920
GO:0008234 cysteine-type peptidase activity --
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CASP9

In Situ Assay Products

Flow Cytometry Products

No data available for 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 2
nucleus 2

Gene Ontology (GO) - Cellular Components for CASP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
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

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 TWEAK Pathway
3 PI3K/AKT Signaling in Cancer
4 SMAC binds to IAPs
5 Apoptotic Pathways in Synovial Fibroblasts
genes like me logo Genes that share pathways with CASP9: view

PCR Array Products

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 --
GO:0006915 apoptotic process TAS 8663294
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process --
GO:0006974 cellular response to DNA damage stimulus IDA 15657060
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with CASP9: view

Drugs & Compounds for CASP9 Gene

(80) Drugs for CASP9 Gene - From: NovoSeek, Tocris, ApexBio, IUPHAR, and DGIdb

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 2437
Aspirin Approved Pharma Channel blocker 971
Bortezomib Approved, Experimental, Investigational Pharma Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 758
Celecoxib Approved, Investigational Pharma Inhibition, Inhibitor Selective cyclooxygenase-2 (COX-2) inhibitor 395
Daunorubicin Approved Pharma 244

(88) Additional Compounds for CASP9 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,4-Anthraquinone
15-deoxy-delta-12,14-prostaglandin j2
87893-55-8
17-(allylamino)-17-demethoxygeldanamycin
2-Chlorodeoxyadenosine
3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CASP9

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



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

Protein tissue co-expression partners for CASP9 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia CASP9 35
  • 83.78 (n)
  • 81.93 (a)
CASP9 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASP9 35
  • 82.21 (n)
  • 77.78 (a)
CASP9 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casp9 35
  • 81.57 (n)
  • 78.61 (a)
Casp9 16
Casp9 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CASP9 35
  • 99.6 (n)
  • 99.52 (a)
CASP9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casp9 35
  • 82.13 (n)
  • 78.12 (a)
oppossum
(Monodelphis domestica)
Mammalia CASP9 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASP9 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASP9 35
  • 63.68 (n)
  • 58 (a)
CASP9 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASP9 36
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia casp9-A 35
zebrafish
(Danio rerio)
Actinopterygii casp9 35
  • 55.7 (n)
  • 51.14 (a)
Dr.16035 35
casp9 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dredd 36
  • 17 (a)
ManyToMany
Nc 36
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ced-3 36
  • 23 (a)
ManyToMany
Species with no ortholog for CASP9:
  • 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

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 MAF
rs15421 -- 15,492,334(+) ACAAT(A/T)TTTAA utr-variant-3-prime, nc-transcript-variant
rs883664 -- 15,492,558(+) GCAAG(C/G)GACAG utr-variant-3-prime, nc-transcript-variant
rs884363 -- 15,493,273(-) CTCCT(G/T)GCTCC intron-variant, utr-variant-3-prime
rs933704 -- 15,522,201(+) TTTGG(C/T)TCATT intron-variant
rs933705 -- 15,522,556(+) AAAAA(A/T)TTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833536 CNV Loss 17160897

Variation tolerance for CASP9 Gene

Residual Variation Intolerance Score: 62.93% 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

HapMap Linkage Disequilibrium report
CASP9
Human Gene Mutation Database (HGMD)
CASP9

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

Disorders for CASP9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CASP9 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
cerebral hypoxia
  • brain hypoxia
dystrophinopathies
  • dystrophinopathy
chronic mountain sickness
thoracic cancer
  • thorax cancer
lung cancer
  • lung cancer, protection against
- elite association
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. Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade. (PMID: 9390557) Li P. … Wang X. (Cell 1997) 2 23 67
  2. Marchantin A, a cyclic bis(bibenzyl ether), isolated from the liverwort Marchantia emarginata subsp. tosana induces apoptosis in human MCF-7 breast cancer cells. (PMID: 19913353) Huang W.J. … Chen C.N. (Cancer Lett. 2010) 23 67
  3. Glucocorticoids increase impairments in learning and memory due to elevated amyloid precursor protein expression and neuronal apoptosis in 12-month old mice. (PMID: 19948164) Li W.Z. … Gong H.L. (Eur. J. Pharmacol. 2010) 23 67
  4. TRAIL and triptolide: an effective combination that induces apoptosis in pancreatic cancer cells. (PMID: 20013316) Borja-Cacho D. … Vickers S.M. (J. Gastrointest. Surg. 2010) 23 67
  5. Enhanced vulnerability of PARK6 patient skin fibroblasts to apoptosis induced by proteasomal stress. (PMID: 20045449) Klinkenberg M. … KAPgel D. (Neuroscience 2010) 23 67

Products for CASP9 Gene

  • Addgene plasmids for CASP9

Sources for CASP9 Gene

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