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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MDN1
midasin AAA ATPase 1
Chromosome 6 · 6q15
NCBI Gene: 23195Ensembl: ENSG00000112159.13HGNC: HGNC:18302UniProt: Q9NU22
139PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingribosomal large subunit assemblynucleusnucleolusAlzheimer diseaseneurodegenerative diseaseParkinson diseaselysosomal storage disease
✦AI Summary

MDN1 encodes a nuclear AAA+ ATPase chaperone essential for 60S ribosomal subunit maturation and export 1. The protein functions at successive maturation steps to remove ribosomal assembly factors at critical transition points, first driving exit of early pre-60S particles from the nucleolus and then facilitating late pre-60S particles' nuclear export 1. MDN1's mechanism involves interaction with the SUMO-conjugated PELP1 complex in nucleoplasmic particles, which is only possible after the 5S RNP undergoes rotational maturation 2. Structural analysis reveals that the MDN1-NLE1 interaction is highly conserved between humans and yeast, confirming evolutionary preservation of ribosome biogenesis mechanisms 1. MDN1 serves as a core component of the RNAmetasome network, a large RNA metabolic network involved in macromolecule biogenesis, gene expression, and cell proliferation 3. Clinically, MDN1 mutations are associated with high tumor mutation burden and unfavorable prognosis in breast cancer, suggesting potential roles in cancer progression and immunotherapy response 4. The protein's involvement in ribosome biogenesis quality control mechanisms makes it a critical factor in cellular growth regulation 5.

Sources cited
1
MDN1 is a nuclear AAA+ ATPase essential for 60S ribosomal subunit maturation with conserved structure between humans and yeast
PMID: 40207627
2
MDN1 interacts with SUMO-conjugated PELP1 complex in the rixosome
PMID: 40712028
3
MDN1 is a core component of the RNAmetasome network involved in macromolecule biogenesis
PMID: 34912035
4
MDN1 mutations are associated with high tumor mutation burden and poor prognosis in breast cancer
PMID: 35386280
5
MDN1 may be part of SUMO-dependent quality control mechanisms in ribosome maturation
PMID: 22064470
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
rheumatic diseaseOpen Targets
0.31Weak
food allergyOpen Targets
0.30Weak
IGA glomerulonephritisOpen Targets
0.26Weak
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
pentosuriaOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
myopathy due to calsequestrin and SERCA1 protein overloadOpen Targets
0.04Suggestive
metabolic myopathy due to lactate transporter defectOpen Targets
0.04Suggestive
atopic eczemaOpen Targets
0.04Suggestive
asthmaOpen Targets
0.03Suggestive
Nasal Cavity PolypOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.03Suggestive
dermatitisOpen Targets
0.03Suggestive
allergic rhinitisOpen Targets
0.03Suggestive
skin cancerOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WDR12Protein interaction100%EBNA1BP2Protein interaction100%RSL24D1Protein interaction100%NSA2Protein interaction100%RPL5Protein interaction100%GTPBP4Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
70%
Ovary
70%
Heart
41%
Lung
37%
Brain
35%
Gene Interaction Network
Click a node to explore
MDN1WDR12EBNA1BP2RSL24D1NSA2RPL5GTPBP4
PROTEIN STRUCTURE
Preparing viewer…
PDB8QL1 · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.37 [0.34–0.42]
RankingsWhere MDN1 stands among ~20K protein-coding genes
  • #3,314of 20,598
    Most Researched139 · top quartile
  • #2,186of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedMDN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
An improved MS2 system for accurate reporting of the mRNA life cycle.
PMID: 29131164
Nat Methods · 2018
1.00
2
Highly conserved ribosome biogenesis pathways between human and yeast revealed by the MDN1-NLE1 interaction and NLE1 containing pre-60S subunits.
PMID: 40207627
Nucleic Acids Res · 2025
0.90
3
MDN1 Mutation Is Associated With High Tumor Mutation Burden and Unfavorable Prognosis in Breast Cancer.
PMID: 35386280
Front Genet · 2022
0.80
4
The immune subtypes and landscape of sarcomas.
PMID: 36153483
BMC Immunol · 2022
0.70
5
PELP1 coordinates the modular assembly and enzymatic activity of the rixosome complex.
PMID: 40712028
Sci Adv · 2025
0.60