TRIAP1: TP53 Regulated Inhibitor of Apoptosis 1
A key regulator of mitochondrial apoptosis and p53-mediated cell death
Gene Information Card
| Symbol | TRIAP1 |
|---|---|
| Full Name | TP53 Regulated Inhibitor of Apoptosis 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 51499 ncbi.nlm.nih.gov/gene/51499 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | O43715 |
| OMIM ID | 614418 |
| HGNC ID | 24061 |
| Aliases | MDM35, HSPC132, p53CSV |
Description
TRIAP1 (TP53 Regulated Inhibitor of Apoptosis 1) is a protein-coding gene that encodes a mitochondrial protein involved in the regulation of apoptosis. It is a direct transcriptional target of p53 and functions by inhibiting the release of cytochrome c from mitochondria, thereby suppressing apoptosis. TRIAP1 plays a critical role in cell survival under stress conditions and has been implicated in cancer development and progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | TRIAP1 overexpression inhibits apoptosis, promoting tumor cell survival | COSMIC, ClinVar |
| Colorectal cancer | Upregulation of TRIAP1 correlates with poor prognosis and resistance to chemotherapy | PubMed, COSMIC |
| Breast cancer | TRIAP1 expression is associated with p53 status and apoptosis evasion | PubMed, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 10.5 | Breast cancer cell line |
| HCT116 | 9.8 | Colorectal cancer cell line |
| A549 | 7.3 | Lung cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | p.Met1Val; potential loss of start codon |
| c.100C>T | Missense | <0.1% | p.Arg34Trp; unknown significance |
| c.200_201del | Frameshift | <0.1% | p.Glu67Glyfs*13; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to cause loss of function, impairing inhibition of apoptosis.
Gain of Function (GOF)
No gain-of-function mutations have been reported in TRIAP1.
Dominant Negative (DN)
No dominant-negative mutations have been described for TRIAP1.
View complete mutation data:
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • mitochondrion (GO:0005739) |
| • negative regulation of apoptotic process (GO:0043066) | • protein binding (GO:0005515) |
Pathways
• p53 signaling pathway (KEGG: hsa04115)
• Intrinsic apoptotic pathway (Reactome: R-HSA-109606)
Protein Summary
TRIAP1 encodes a small mitochondrial protein of 76 amino acids that localizes to the intermembrane space. It binds to cytochrome c and prevents its release into the cytosol, thereby blocking caspase activation and apoptosis. TRIAP1 is transcriptionally upregulated by p53 in response to cellular stress, but its anti-apoptotic function can paradoxically promote cell survival in cancer cells. The protein is also known as MDM35 and p53CSV.
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