HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MALSU1
mitochondrial assembly of ribosomal large subunit 1
Chromosome 7 · 7p15.3
NCBI Gene: 115416Ensembl: ENSG00000156928.6HGNC: HGNC:21721UniProt: Q96EH3
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial large ribosomal subunit bindingribosomal large subunit biogenesisnegative regulation of mitochondrial translationneurodegenerative diseaseneoplasmalcohol drinkingParkinson disease
✦AI Summary

MALSU1 (mitochondrial assembly of ribosomal large subunit 1) functions as a key regulatory factor in mitochondrial ribosome biogenesis and translation control. The protein serves as a quality control mechanism by preventing premature association of the 28S and 39S ribosomal subunits through interaction with mitochondrial ribosomal protein uL14m (MRPL14), effectively blocking formation of intersubunit bridge B8 1. MALSU1 is recruited to the mitoribosome large subunit during late-stage assembly, where it works alongside other biogenesis factors including MTERF4, NSUN4, and GTPBP10 2 3. The protein functions as a ribosomal silencing factor that negatively regulates mitochondrial translation when added to isolated ribosomal subunits 1. Mechanistically, MALSU1 is essential for maintaining mitochondrial respiratory chain complex activities, cellular ATP levels, and mitochondrial respiration 4. Disease relevance includes associations with neurodegenerative conditions, where elevated MALSU1 expression increases Parkinson's disease risk 5 6, and overexpression contributes to axon degeneration during neurodevelopment 7. In cancer, increased MALSU1 expression correlates with poor prognosis in triple-negative breast cancer and promotes doxorubicin resistance 4. Clinically, MALSU1 represents a potential therapeutic target, as its modulation through tetracyclines can promote cell survival by suppressing ER stress 1.

Sources cited
1
MALSU1 prevents premature ribosomal subunit association and is necessary for tetracycline-induced survival
PMID: 37818824
2
MALSU1 is involved in late-stage mitoribosome large subunit assembly with other biogenesis factors
PMID: 30085210
3
MALSU1 interacts with GTPBP5 and other late-stage mitoribosome assembly factors
PMID: 33283228
4
MALSU1 regulates mitochondrial respiratory chain complexes and ATP levels, and its knockdown enhances doxorubicin sensitivity
PMID: 38896203
5
Elevated MALSU1 expression is associated with increased Parkinson's disease risk
PMID: 39838927
6
MALSU1 shows causal relationship with Parkinson's disease in Mendelian randomization analysis
PMID: 39347895
7
MALSU1 overexpression contributes to axon degeneration during neurodevelopment
PMID: 39480871
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
neoplasmOpen Targets
0.05Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
Parkinson diseaseOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
triple-negative breast cancerOpen Targets
0.03Suggestive
liver diseaseOpen Targets
0.02Suggestive
response to antihypertensive drugOpen Targets
0.02Suggestive
melanomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
mitochondrial diseaseOpen Targets
0.00Suggestive
meningiomaOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
Familial prostate cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRPL12Protein interaction100%RPL23AProtein interaction100%MRPL36Protein interaction100%MRPL33Protein interaction100%RPL23Protein interaction100%RPL35Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
80%
Ovary
78%
Brain
65%
Lung
59%
Bone Marrow
39%
Gene Interaction Network
Click a node to explore
MALSU1MRPL12RPL23AMRPL36MRPL33RPL23RPL35
PROTEIN STRUCTURE
Preparing viewer…
PDB7OF0 · 2.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.71–1.49]
RankingsWhere MALSU1 stands among ~20K protein-coding genes
  • #11,366of 20,598
    Most Researched33
  • #15,106of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedMALSU1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondria-Related Genome-Wide Mendelian Randomization Identifies Putatively Causal Genes for Neurodegenerative Diseases.
PMID: 39838927
Mov Disord · 2025
1.00
2
Ortholog of autism candidate gene RBM27 regulates mitoribosomal assembly factor MALS-1 to protect against mitochondrial dysfunction and axon degeneration during neurodevelopment.
PMID: 39480871
PLoS Biol · 2024
0.90
3
Identification of Potential Causal Genes for Neurodegenerative Diseases by Mitochondria-Related Genome-Wide Mendelian Randomization.
PMID: 39347895
Mol Neurobiol · 2025
0.80
4
The human Obg protein GTPBP10 is involved in mitoribosomal biogenesis.
PMID: 30085210
Nucleic Acids Res · 2018
0.70
5
Tetracyclines activate mitoribosome quality control and reduce ER stress to promote cell survival.
PMID: 37818824
EMBO Rep · 2023
0.60