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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MRPL12
mitochondrial ribosomal protein L12
Chromosome 17 · 17q25.3
NCBI Gene: 6182Ensembl: ENSG00000262814.9HGNC: HGNC:10378UniProt: P52815
120PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial matrixmitochondrial large ribosomal subunitprotein bindingcombined oxidative phosphorylation deficiency 45neurodegenerative diseaselung adenocarcinomaneoplasm
✦AI Summary

MRPL12 (mitochondrial ribosomal protein L12) is a dual-function mitochondrial protein with roles in both translation and transcription regulation. As a component of the mitochondrial large ribosomal subunit, MRPL12 participates in mitochondrial translation 1. When not associated with ribosomes, MRPL12 exists as a free protein that directly binds to mitochondrial RNA polymerase (POLRMT) and activates mitochondrial transcription 2, while also maintaining POLRMT stability 3. This dual functionality coordinates transcription with translation during mitochondrial gene expression. MRPL12 is emerging as a critical regulator of metabolic reprogramming in cancer pathogenesis. In lung adenocarcinoma and hepatocellular carcinoma, elevated MRPL12 expression drives malignant progression by upregulating oxidative phosphorylation (OXPHOS) and mitochondrial biogenesis 45. Notably, MRPL12 Y60 phosphorylation enhances its binding to POLRMT and promotes tumorigenesis, while dephosphorylation by UBASH3B inhibits these oncogenic functions 4. Conversely, in clear cell renal cell carcinoma, MRPL12 is downregulated and functions as a tumor suppressor; K163 acetylation enhances MRPL12-POLRMT binding to promote OXPHOS and suppress glycolysis, inhibiting cancer progression 67. Beyond cancer, MRPL12 dysfunction associates with premature ovarian insufficiency through mitochondrial-immune axis dysregulation 8, and mutations cause combined oxidative phosphorylation deficiency 45. These findings establish MRPL12 as a context-dependent metabolic regulator with potential therapeutic applications.

Sources cited
1
MRPL12 is a component of the mitochondrial large ribosomal subunit involved in mitochondrial translation
PMID: 23603806
2
MRPL12 directly binds to POLRMT and stimulates mitochondrial transcription activity in vitro and in vivo
PMID: 17337445
3
MRPL12 is required for POLRMT stability
PMID: 26586915
4
MRPL12 promotes lung adenocarcinoma through OXPHOS upregulation; Y60 phosphorylation enhances POLRMT binding and oncogenic function; UBASH3B-mediated dephosphorylation inhibits tumorigenesis
PMID: 39343960
5
MRPL12 is upregulated in hepatocellular carcinoma and promotes tumorigenesis via OXPHOS and mitochondrial biogenesis regulation; PI3K/mTOR/YY1 pathway regulates MRPL12 expression
PMID: 38104924
6
MRPL12 K163 acetylation inhibits clear cell renal cell carcinoma by enhancing POLRMT binding and promoting OXPHOS while suppressing glycolysis
PMID: 40858596
7
MRPL12 is downregulated in clear cell renal cell carcinoma and functions as a tumor suppressor by regulating mitochondrial metabolism; HIF-1α acts as a transcriptional repressor of MRPL12
PMID: 41088271
8
MRPL12 is identified as a hub mitochondria-related gene in premature ovarian insufficiency with correlations to immune cell infiltration
PMID: 39379953
Disease Associationsⓘ21
combined oxidative phosphorylation deficiency 45Open Targets
0.40Weak
neurodegenerative diseaseOpen Targets
0.38Weak
lung adenocarcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
acute kidney injuryOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
cancerOpen Targets
0.02Suggestive
diabetic nephropathyOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
esophageal cancerOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
Other metabolic diseaseOpen Targets
0.01Suggestive
adenocarcinomaOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
Myocardial IschemiaOpen Targets
0.01Suggestive
Combined oxidative phosphorylation deficiency 45UniProt
Pathogenic Variants1
NM_002949.4(MRPL12):c.542C>T (p.Ala181Val)Pathogenic
Combined oxidative phosphorylation deficiency 45
☆☆☆☆2020→ Residue 181
View on ClinVar ↗
Related Genes
HMGN2Protein interaction100%OXA1LProtein interaction100%RPL5Protein interaction100%RPL11Protein interaction100%RPL23AProtein interaction100%MRPS6Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
23%
Lung
20%
Brain
19%
Ovary
14%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
MRPL12HMGN2OXA1LRPL5RPL11RPL23AMRPS6
PROTEIN STRUCTURE
Preparing viewer…
PDB7QI4 · 2.21 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.43–1.05]
RankingsWhere MRPL12 stands among ~20K protein-coding genes
  • #3,928of 20,598
    Most Researched120 · top quartile
  • #4,834of 5,498
    Most Pathogenic Variants1
  • #10,468of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedMRPL12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
UBASH3B-mediated MRPL12 Y60 dephosphorylation inhibits LUAD development by driving mitochondrial metabolism reprogramming.
PMID: 39343960
J Exp Clin Cancer Res · 2024
1.00
2
Lefamulin Overcomes Acquired Drug Resistance via Regulating Mitochondrial Homeostasis by Targeting ILF3 in Hepatocellular Carcinoma.
PMID: 38874478
Adv Sci (Weinh) · 2024
0.90
3
Mitochondrial ribosomal protein L12 potentiates hepatocellular carcinoma by regulating mitochondrial biogenesis and metabolic reprogramming.
PMID: 38104924
Metabolism · 2024
0.80
4
Integrative bioinformatics analysis for identifying the mitochondrial-related gene signature associated with immune infiltration in premature ovarian insufficiency.
PMID: 39379953
BMC Med · 2024
0.70
5
MRPL12 K163 acetylation inhibits ccRCC via driving mitochondrial metabolic reprogramming.
PMID: 40858596
Cell Death Dis · 2025
0.60