DAP3 (Death Associated Protein 3)
Mitochondrial ribosomal protein and apoptosis regulator
Gene Information Card
| Symbol | DAP3 |
|---|---|
| Full Name | Death Associated Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 7818 ncbi.nlm.nih.gov/gene/7818 |
| Ensembl ID | ENSG00000132676 |
| UniProt ID | P51398 |
| OMIM ID | 602074 |
| HGNC ID | 2729 |
| Aliases | MRP-S29, bMRP-29, DAP-3, IRIM |
Description
DAP3 (Death Associated Protein 3) encodes a 29 kDa protein that functions as a component of the mitochondrial small ribosomal subunit (MRP-S29) and plays a critical role in apoptosis. It is involved in interferon-gamma-induced cell death, TNF-alpha signaling, and mitochondrial translation. DAP3 is ubiquitously expressed and its dysregulation is linked to cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | DAP3 overexpression promotes resistance to apoptosis via mitochondrial pathway | PMID: 23455478 |
| Breast Cancer | DAP3 knockdown sensitizes cells to chemotherapy-induced apoptosis | PMID: 25642768 |
| Glioblastoma | DAP3 upregulation correlates with poor prognosis and tumor progression | PMID: 27323851 |
| Neurodegeneration (Alzheimer's) | DAP3 interacts with presenilin-1 and modulates mitochondrial function | PMID: 14593116 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 15.3 | Medium |
| Liver | 8.2 | Low |
| Kidney | 10.1 | Medium |
| Colon | 14.7 | Medium |
| Breast | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| MCF7 | 16.2 | Breast cancer cell line |
| HCT116 | 20.1 | Colorectal cancer cell line |
| U87MG | 22.5 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown significance |
| c.454G>A (p.Glu152Lys) | Missense | <0.01% | Reported in COSMIC; potential gain of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss) impair mitochondrial translation and reduce apoptotic signaling.
Gain of Function (GOF)
Gain-of-function mutations (e.g., p.Glu152Lys) may enhance resistance to apoptosis in cancer cells.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Interferon-gamma signaling pathway (Reactome: R-HSA-877300)
• TNF-alpha signaling (KEGG: hsa04668)
• Apoptosis (KEGG: hsa04210)
• Mitochondrial translation (Reactome: R-HSA-5368287)
Protein Summary
DAP3 is a 398-amino acid protein (UniProt P51398) localized to the mitochondrial matrix. It is an essential component of the mitochondrial small ribosomal subunit (28S) and is required for mitochondrial protein synthesis. DAP3 also acts as a pro-apoptotic factor, mediating cell death in response to interferon-gamma and TNF-alpha. Its dual role in translation and apoptosis makes it a key regulator of mitochondrial homeostasis and cell fate.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAP3 Knockout HEK293T Cell Line | EDC90646 | Human | 7818 | Details Get a Quote |
| DAP3 Knockout K-562 Cell Line | EDC90305 | Human | 7818 | Details Get a Quote |
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