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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MRPL48
mitochondrial ribosomal protein L48
Chromosome 11 · 11q13.4
NCBI Gene: 51642Ensembl: ENSG00000175581.14HGNC: HGNC:16653UniProt: F5H702
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial ribosomemitochondrionmitochondrial large ribosomal subunitneurodegenerative diseasebreast benign neoplasmhepatocellular carcinomaneoplasm
✦AI Summary

MRPL48 (mitochondrial ribosomal protein L48) is a structural component of the mitochondrial large ribosomal subunit required for mitochondrial translation and oxidative phosphorylation. The protein localizes to the mitochondrial inner membrane and interacts with the Oxa1L insertion machinery, facilitating co-translational insertion of mitochondria-synthesized proteins 1. MRPL48 cross-links to multiple mitochondrial ribosomal proteins including MRPL49 and MRPL51, supporting its role in ribosome assembly and function 1. Pathologically, MRPL48 expression is dysregulated across multiple malignancies. In adrenocortical carcinoma, MRPL48 is significantly downregulated on chromosome 11 with 91% diagnostic accuracy for distinguishing carcinoma from adenoma 2. Conversely, MRPL48 is overexpressed in hepatocellular carcinoma, correlating with poor prognosis and reduced overall survival, particularly in methylation-deficient tumors 3. MRPL48 knockout enhances cetuximab sensitivity in colorectal cancer cells 4. In emphysema, decreased MRPL48 levels in alveolar type II cells associate with mitoribosome dysfunction and impaired mitochondrial translation 5. Additionally, MRPL48 expression variation correlates with sex-related differences in neonatal cerebrospinal fluid system development 6. These findings suggest MRPL48 functions as both a tumor suppressor in some contexts and an oncogenic driver in others, with potential clinical significance as a biomarker.

Sources cited
1
MRPL48 is a mitochondrial ribosomal protein that interacts with Oxa1L and participates in co-translational insertion of mitochondrial proteins into the inner membrane
PMID: 20601428
2
MRPL48 is significantly downregulated in adrenocortical carcinoma with 91% diagnostic accuracy for distinguishing carcinoma from benign adenoma
PMID: 18324346
3
MRPL48 is overexpressed in hepatocellular carcinoma and serves as a prognostic and predictive biomarker associated with poor survival outcomes
PMID: 38093387
4
MRPL48 knockout enhances cetuximab sensitivity in colorectal cancer cells, linking it to drug response
PMID: 33048115
5
Low MRPL48 levels are detected in alveolar type II cells in emphysema, associated with mitoribosome dysfunction and impaired mitochondrial translation
PMID: 35884802
6
MRPL48 expression variation correlates with sex-related differences in neonatal cerebrospinal fluid system development
PMID: 40414938
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
breast benign neoplasmOpen Targets
0.24Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.05Suggestive
cancerOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
emphysemaOpen Targets
0.01Suggestive
Invasive Breast CarcinomaOpen Targets
0.01Suggestive
lung carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.00Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene FusionsOpen Targets
0.00Suggestive
retinoblastomaOpen Targets
0.00Suggestive
major depressive disorderOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRPL54Shared pathway100%MRPS24Shared pathway100%MRPS26Shared pathway100%DAP3Protein interaction100%MRPS7Protein interaction100%MRPS14Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
63%
Heart
62%
Bone Marrow
56%
Ovary
43%
Lung
35%
Gene Interaction Network
Click a node to explore
MRPL48MRPL54MRPS24MRPS26DAP3MRPS7MRPS14
PROTEIN STRUCTURE
Preparing viewer…
PDB7OF0 · 2.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.54 [0.36–0.83]
RankingsWhere MRPL48 stands among ~20K protein-coding genes
  • #6,819of 20,598
    Most Researched69
  • #7,025of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedMRPL48
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
NRG1 fusions in breast cancer.
PMID: 33413557
Breast Cancer Res · 2021
1.00
2
Mitochondrial Ribosome Dysfunction in Human Alveolar Type II Cells in Emphysema.
PMID: 35884802
Biomedicines · 2022
0.88
3
Detection of genes responsible for cetuximab sensitization in colorectal cancer cells using CRISPR-Cas9.
PMID: 33048115
Biosci Rep · 2020
0.75
4
Candidate diagnostic markers and tumor suppressor genes for adrenocortical carcinoma by expression profile of genes on chromosome 11q13.
PMID: 18324346
World J Surg · 2008
0.63
5
Antineoplastic effects of decitabine, an inhibitor of DNA promoter methylation, in adrenocortical carcinoma cells.
PMID: 20231622
Arch Surg · 2010
0.50