CASP3 (Caspase 3)
Key executioner caspase in apoptosis and cellular homeostasis
Gene Information Card
| Symbol | CASP3 |
|---|---|
| Full Name | caspase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 836 ncbi.nlm.nih.gov/gene/836 |
| Ensembl ID | ENSG00000164305 |
| UniProt ID | P42574 |
| OMIM ID | 600636 |
| HGNC ID | 1504 |
| Aliases | CPP32, CPP32B, SCA-1, Yama, apopain |
Description
CASP3 (caspase 3) encodes a cysteine-aspartic acid protease that acts as a key executioner caspase in the apoptotic pathway. It is activated by initiator caspases (e.g., CASP8, CASP9) and cleaves multiple cellular substrates, including PARP1, leading to DNA fragmentation and cell death. CASP3 also participates in non-apoptotic processes such as cell differentiation, proliferation, and neural development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Reduced CASP3 expression or activity impairs apoptosis, promoting tumor survival and resistance to therapy. | PMID: 12676586; COSMIC |
| Neurodegenerative disorders (e.g., Alzheimer disease) | Aberrant CASP3 activation contributes to neuronal loss and tau cleavage. | PMID: 15378065; OMIM #600636 |
| Autoimmune lymphoproliferative syndrome (ALPS) | Germline CASP3 mutations impair lymphocyte apoptosis, leading to lymphoproliferation. | PMID: 20094044; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Spleen | 15.2 | Medium |
| Brain (cortex) | 8.3 | Low |
| Heart | 6.1 | Low |
| Thymus | 18.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cells |
| Jurkat | 20.1 | T-cell leukemia line |
| MCF7 | 7.8 | Breast cancer (low due to CASP3 deletion) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Gln144*) | Nonsense | <0.1% | Loss of function; truncation of caspase domain |
| c.497A>G (p.Asp166Gly) | Missense | <0.1% | Impaired catalytic activity |
| c.1A>G (p.Met1?) | Start loss | <0.1% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Reduced or absent caspase 3 activity impairs apoptosis, contributing to cancer progression and immune dysregulation.
Gain of Function (GOF)
Not well documented; gain-of-function mutations are rare and may enhance apoptosis in neurodegenerative contexts.
Dominant Negative (DN)
Some missense mutations (e.g., p.Asp166Gly) can act as dominant-negative by forming inactive heterodimers with wild-type caspase 3.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153) | • execution phase of apoptosis (GO:0097194) |
| • proteolysis (GO:0006508) | • apoptotic process (GO:0006915) |
| • cysteine-type peptidase activity (GO:0008234) |
Pathways
• Apoptosis (KEGG hsa04210)
• Intrinsic Pathway for Apoptosis (Reactome R-HSA-109606)
• Extrinsic Pathway for Apoptosis (Reactome R-HSA-5357801)
• p53-Dependent G1 DNA Damage Response (Reactome R-HSA-69580)
Protein Summary
Caspase 3 is a 277-amino acid cysteine protease (32 kDa) synthesized as an inactive zymogen (procaspase 3). Proteolytic cleavage at Asp175/Ser176 generates the active heterodimer composed of a 17 kDa (p17) and a 12 kDa (p12) subunit. The active site contains a catalytic dyad (Cys163, His121) that cleaves substrates after Asp-Glu-Val-Asp (DEVD) motifs. Caspase 3 is the primary executioner caspase, responsible for chromatin condensation, DNA fragmentation, and cell disassembly during apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASP3 Knockout HEK293 Cell Line | EDJ-KQ632 | Human | 836 | Details Get a Quote |
| CASP3 Knockout HCT 116 Cell Line | EDJ-KQ18053 | Human | 836 | Details Get a Quote |
| CASP3 Knockout A-549 Cell Line | EDC07646 | Human | 836 | Details Get a Quote |
| CASP3 Knockout HeLa Cell Line | EDJ-KQ19099 | Human | 836 | Details Get a Quote |
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