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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TP53AIP1
tumor protein p53 regulated apoptosis inducing protein 1
Chromosome 11 · 11q24.3
NCBI Gene: 63970Ensembl: ENSG00000120471.16HGNC: HGNC:29984UniProt: Q9HCN2
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
apoptotic processmitochondrionmitochondrial matrixplacental retentionmixed connective tissue diseaseankylosing spondylitisbreast cancer
✦AI Summary

TP53AIP1 (tumor protein p53 regulated apoptosis inducing protein 1) is a p53-regulated pro-apoptotic gene that functions as a key mediator of p53-dependent cell death in response to DNA damage 1. The protein localizes to the mitochondrial matrix and plays a critical role in apoptosis initiation 2. In breast cancer, TP53AIP1 suppresses tumor growth and cell proliferation by inducing autophagy through inhibition of the AKT/mTOR signaling pathway; low TP53AIP1 expression correlates with reduced patient survival 3. Constitutionally truncating TP53AIP1 mutations increase susceptibility to cutaneous melanoma (OR=3.3), with mutations showing reduced mRNA expression during melanoma progression 1. TP53AIP1 has been identified as a prognostically relevant gene in multiple cancer contexts, including breast cancer risk stratification models based on apoptosis-related and mitochondria-related gene signatures 45. Additionally, TP53AIP1 variants have been associated with alexithymia, suggesting broader neurobiological functions beyond cancer pathways 6. Clinical significance includes potential therapeutic targeting through TP53AIP1 restoration to overcome drug resistance and enhance apoptosis in cancer treatment 23.

Sources cited
1
TP53AIP1 truncating mutations predispose to cutaneous melanoma with OR=3.3; mutations decrease TP53AIP1 mRNA expression during melanoma progression; TP53AIP1 is a p53 target that induces apoptosis in response to UV-induced DNA damage
PMID: 29359367
2
TP53AIP1 upregulation suppresses breast cancer cell proliferation, migration, and invasion; induces autophagy via AKT/mTOR pathway inhibition; low TP53AIP1 expression correlates with lower breast cancer patient survival
PMID: 39223776
3
TP53AIP1 is an apoptosis-related gene with prognostic significance in breast cancer risk models
PMID: 39082332
4
TP53AIP1 is a mitochondria-related gene in a prognostic signature for breast cancer with significant hazard ratio for patient survival
PMID: 38310106
5
TP53AIP1 is an apoptosis-related gene altered in curcumin-treated glioblastoma cells; localizes to mitochondrial matrix
PMID: 40430278
6
TP53AIP1 variants are associated with alexithymia in candidate gene studies
PMID: 39202385
7
TP53AIP1 variants segregate with phenotypic features in Peutz-Jeghers syndrome; TP53AIP1 expression is reduced in association with p53 pathway dysregulation
PMID: 40860288
Disease Associationsⓘ20
placental retentionOpen Targets
0.32Weak
mixed connective tissue diseaseOpen Targets
0.21Weak
ankylosing spondylitisOpen Targets
0.12Weak
breast cancerOpen Targets
0.09Suggestive
self-injurious ideationOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
gastric ulcerOpen Targets
0.04Suggestive
hemorrhageOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
polyarteritis nodosaOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
brain aneurysmOpen Targets
0.02Suggestive
heart diseaseOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
chronic gastritisOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
cutaneous melanomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF443Shared pathway100%MAGEH1Shared pathway100%PRUNE2Shared pathway100%PDCD2LShared pathway100%CSRNP1Shared pathway100%ZNF420Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Liver
36%
Ovary
33%
Lung
18%
Bone Marrow
7%
Heart
0%
Gene Interaction Network
Click a node to explore
TP53AIP1ZNF443MAGEH1PRUNE2PDCD2LCSRNP1ZNF420
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9HCN2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.94 [1.25–1.97]
RankingsWhere TP53AIP1 stands among ~20K protein-coding genes
  • #13,105of 20,598
    Most Researched25
  • #17,798of 17,882
    Most Constrained (LOEUF)1.97
Genes detectedTP53AIP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exploring Candidate Gene Studies and Alexithymia: A Systematic Review.
PMID: 39202385
Genes (Basel) · 2024
1.00
2
Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.
PMID: 29359367
Genes Chromosomes Cancer · 2018
0.90
3
Screening of genes related to breast cancer prognosis based on the DO-UniBIC method.
PMID: 35472336
Am J Med Sci · 2022
0.80
4
Curcumin-Induced Molecular Mechanisms in U-87 MG Glioblastoma Cells: Insights from Global Gene Expression Profiling.
PMID: 40430278
Molecules · 2025
0.70
5
TP53AIP1 induce autophagy via the AKT/mTOR signaling pathway in the breast cancer cells.
PMID: 39223776
Cancer Biol Ther · 2024
0.60