DELE1
DAP3 Binding Cell Death Enhancer 1
Gene Information Card
| Symbol | DELE1 |
|---|---|
| Full Name | DAP3 Binding Cell Death Enhancer 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 100287171 ncbi.nlm.nih.gov/gene/100287171 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q9H0U4 |
| OMIM ID | 620448 |
| HGNC ID | 28398 |
| Aliases | FLJ10305, MGC13170 |
Description
DELE1 (DAP3 Binding Cell Death Enhancer 1) is a protein-coding gene that plays a critical role in the mitochondrial integrated stress response. Under mitochondrial stress, DELE1 is cleaved by OMA1 and translocates to the cytosol, where it binds to eIF2α kinase HRI to activate the integrated stress response (ISR). This pathway helps cells adapt to mitochondrial dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalopathy | Impaired DELE1-mediated ISR activation leads to defective stress response in mitochondria | PMID: 32610042 |
| Neurodegenerative disorders | Dysregulation of DELE1-ISR axis contributes to neuronal cell death | PMID: 32610042 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 4.5 | Low |
| Testis | 6.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Low expression |
| HeLa | 3.5 | Low expression |
| SH-SY5Y | 5.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations likely lead to truncated protein and loss of DELE1 function, impairing ISR activation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • protein binding |
| • integrated stress response signaling | • cytoplasm |
Pathways
• Mitochondrial stress response
• Integrated stress response (ISR)
Protein Summary
DELE1 is a mitochondrial protein that, upon mitochondrial stress, is cleaved by OMA1 and released into the cytosol. There, it binds to and activates HRI (EIF2AK1), leading to phosphorylation of eIF2α and activation of the integrated stress response. This pathway is essential for cellular adaptation to mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DELE1 Knockout HEK293 Cell Line | EDJ-KQ6756 | Human | 9812 | Details Get a Quote |
| DELE1 Knockout HCT 116 Cell Line | EDJ-KQ31184 | Human | 9812 | Details Get a Quote |
| DELE1 Knockout HeLa Cell Line | EDJ-KQ31185 | Human | 9812 | Details Get a Quote |
| DELE1 Knockout A-549 Cell Line | EDJ-KQ29830 | Human | 9812 | Details Get a Quote |
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