Version: 8.0.0Date: Tue Jan 28 2025
Gene
CASP9
- Species
- Homo sapiens
- Symbol
- CASP9
- Name
- caspase 9
- Synonyms
- APAF-3
- APAF3
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including SH3 domain binding activity; cysteine-type endopeptidase activity; and identical protein binding activity. Involved in several processes, including cellular response to UV; intracellular signal transduction; and positive regulation of apoptotic process. Located in cytosol. Part of apoptosome and caspase complex. Is active in mitochondrion. Implicated in several diseases, including Parkinson's disease; colorectal cancer; lung non-small cell carcinoma; pancreatic cancer; and type 2 diabetes mellitus. Biomarker of several diseases, including diabetic retinopathy; lung non-small cell carcinoma; neurodegenerative disease (multiple); severe acute respiratory syndrome; and type 1 diabetes mellitus.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10454
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr1:15490832...15526534 - (35.70 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.