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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PMAIP1
phorbol-12-myristate-13-acetate-induced protein 1
Chromosome 18 · 18q21.32
NCBI Gene: 5366Ensembl: ENSG00000141682.13HGNC: HGNC:9108UniProt: A0A0S2Z490
166PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Apoptosis
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
apoptotic processprotein bindingpositive regulation of release of cytochrome c from mitochondriaintrinsic apoptotic signaling pathwayneurodegenerative diseasecataracthyperaldosteronismchronic lymphocytic leukemia
✦AI Summary

PMAIP1 (also known as NOXA) is a pro-apoptotic BH3-only protein that functions as a critical mediator of cell death across multiple contexts. Mechanistically, PMAIP1 promotes activation of caspases and apoptosis by inducing mitochondrial membrane permeabilization and cytochrome c release 1. It operates through direct protein-protein interactions, competing with BAK1 and BIM for binding to the anti-apoptotic protein MCL1, thereby displacing these factors and promoting MCL1-mediated apoptosis 1. PMAIP1 plays a central role in p53-dependent apoptosis following DNA damage 2 and is also activated through endoplasmic reticulum stress pathways 3. Clinically, PMAIP1 is highly relevant to acute myeloid leukemia (AML) treatment. It is essential for synergistic activity between the BCL2 inhibitor venetoclax and 5-azacitidine, with PMAIP1 induction occurring within hours of 5-azacitidine treatment via the integrated stress response 1. CRISPR/Cas9 validation confirmed PMAIP1 as a key determinant of venetoclax sensitivity, with PMAIP1 loss conferring resistance 2. Beyond hematologic malignancies, PMAIP1 shows therapeutic potential in solid tumors and degenerative diseases. In lung cancer, parthenolide-induced apoptosis depends on PMAIP1 upregulation 3, while engineered CAR T cells expressing granzyme B-NOXA fusion proteins demonstrate enhanced myeloma killing 4. Additionally, PMAIP1 modulation shows promise in Alzheimer's disease, where siRNA-mediated knockdown alleviates mitochondrial dysfunction 5.

Sources cited
1
Mechanistically, PMAIP1 promotes activation of caspases and apoptosis by inducing mitochondrial membrane permeabilization and cytochrome c release .
PMID: 32054729
2
PMAIP1 plays a central role in p53-dependent apoptosis following DNA damage and is also activated through endoplasmic reticulum stress pathways .
PMID: 31048320
3
PMAIP1 plays a central role in p53-dependent apoptosis following DNA damage and is also activated through endoplasmic reticulum stress pathways .
PMID: 24387758
4
In lung cancer, parthenolide-induced apoptosis depends on PMAIP1 upregulation , while engineered CAR T cells expressing granzyme B-NOXA fusion proteins demonstrate enhanced myeloma killing .
PMID: 40389394
5
Additionally, PMAIP1 modulation shows promise in Alzheimer's disease, where siRNA-mediated knockdown alleviates mitochondrial dysfunction .
PMID: 38692009
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
cataractOpen Targets
0.30Weak
hyperaldosteronismOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.27Weak
BlindnessOpen Targets
0.23Weak
tooth diseaseOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
ulcerative colitisOpen Targets
0.16Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
ovarian neoplasmOpen Targets
0.10Weak
triple-negative breast cancerOpen Targets
0.10Suggestive
amyotrophic lateral sclerosisOpen Targets
0.10Suggestive
Mantle cell lymphomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
alcohol drinkingOpen Targets
0.09Suggestive
melanomaOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APAF1Protein interaction100%BIDProtein interaction100%E2F1Protein interaction99%HRKProtein interaction97%BMFProtein interaction95%BAK1Protein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
6%
Lung
4%
Liver
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
PMAIP1APAF1BIDE2F1HRKBMFBAK1
PROTEIN STRUCTURE
Preparing viewer…
PDB3MQP · 2.24 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.85LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF1.06 [0.50–1.85]
RankingsWhere PMAIP1 stands among ~20K protein-coding genes
  • #2,696of 20,598
    Most Researched166 · top quartile
  • #16,886of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedPMAIP1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
5-Azacitidine Induces NOXA to Prime AML Cells for Venetoclax-Mediated Apoptosis.
PMID: 32054729
Clin Cancer Res · 2020
1.00
2
The TP53 Apoptotic Network Is a Primary Mediator of Resistance to BCL2 Inhibition in AML Cells.
PMID: 31048320
Cancer Discov · 2019
0.90
3
Parthenolide induces apoptosis via TNFRSF10B and PMAIP1 pathways in human lung cancer cells.
PMID: 24387758
J Exp Clin Cancer Res · 2014
0.80
4
Identification and validation of apoptosis-related genes in acute myocardial infarction based on integrated bioinformatics methods.
PMID: 39650552
PeerJ · 2024
0.72
5
Identification and gene expression profiling of human gonadotrophic pituitary adenoma stem cells.
PMID: 36750863
Acta Neuropathol Commun · 2023
0.70