TP53AIP1
Tumor Protein P53 Regulated Apoptosis Inducing Protein 1
Gene Information Card
| Symbol | TP53AIP1 |
|---|---|
| Full Name | tumor protein p53 regulated apoptosis inducing protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 63970 ncbi.nlm.nih.gov/gene/63970 |
| Ensembl ID | ENSG00000149480 |
| UniProt ID | Q9HCN2 |
| OMIM ID | 605426 |
| HGNC ID | 18023 |
| Aliases | P53AIP1, p53AIP1 |
Description
TP53AIP1 (tumor protein p53 regulated apoptosis inducing protein 1) is a protein-coding gene located on chromosome 11q24.3. It encodes a protein that is directly regulated by the tumor suppressor p53 and plays a critical role in p53-dependent apoptosis. The protein localizes to mitochondria and induces cytochrome c release, leading to caspase activation and programmed cell death. TP53AIP1 is involved in cellular stress responses and is implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Loss of TP53AIP1 expression reduces p53-mediated apoptosis, promoting tumorigenesis | NCBI Gene, OMIM |
| Li-Fraumeni syndrome (indirect) | TP53 mutations impair TP53AIP1 induction, contributing to cancer predisposition | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Moderate expression |
| A549 | 10.8 | Low expression |
| MCF7 | 7.5 | Low expression |
| HEK293 | 5.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.100C>T | nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) are predicted to cause premature truncation and loss of pro-apoptotic function.
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)
| • apoptotic process (GO:0006915) | • mitochondrion (GO:0005739) |
| • positive regulation of apoptotic process (GO:0043065) | • protein binding (GO:0005515) |
Pathways
• p53-dependent apoptosis pathway
• Intrinsic apoptotic signaling pathway
Protein Summary
The TP53AIP1 protein (UniProt Q9HCN2) is a 124-amino acid polypeptide that localizes to mitochondria. It contains a p53 response element in its promoter and is transcriptionally activated by p53 in response to DNA damage. The protein induces apoptosis by permeabilizing the mitochondrial outer membrane, releasing cytochrome c, and activating caspases. It is a key effector of p53-mediated cell death.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TP53AIP1 Knockout HEK293 Cell Line | EDJ-KQ15888 | Human | 63970 | Details Get a Quote |
| TP53AIP1 Knockout HeLa Cell Line | EDJ-KQ57006 | Human | 63970 | Details Get a Quote |
| TP53AIP1 Knockout A-549 Cell Line | EDJ-KQ65511 | Human | 63970 | Details Get a Quote |
| TP53AIP1 Knockout HCT 116 Cell Line | EDJ-KQ73948 | Human | 63970 | Details Get a Quote |
