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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MRPL53
mitochondrial ribosomal protein L53
Chromosome 2 · 2p13.1
NCBI Gene: 116540Ensembl: ENSG00000204822.8HGNC: HGNC:16684UniProt: Q96EL3
61PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrionmitochondrial large ribosomal subunitmitochondrial translationneurodegenerative diseaseallergic rhinitisorofacial cleftneoplasm
✦AI Summary

MRPL53 (mitochondrial ribosomal protein L53) is a structural component of the mitochondrial large (39S) ribosomal subunit that plays a critical role in mitochondrial protein synthesis 1. The protein localizes to the mitochondrial inner membrane and functions within the mitochondrial translation machinery 2. MRPL53 interacts with MYC, a transcription factor essential for normal facial morphogenesis 1. Clinically, MRPL53 variants have been identified as susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P), a common congenital malformation affecting approximately 1.2 per 1000 live births 31. A significant eQTL variant (rs1063588) affecting MRPL53 gene expression was discovered through tissue-specific analysis of lip muscle samples from affected individuals, demonstrating the functional relevance of MRPL53 dysregulation in orofacial cleft pathogenesis 1. Beyond orofacial clefts, MRPL53 has emerged as a prognostic biomarker in hepatocellular carcinoma, where it was identified among 16 RNA-binding proteins associated with poor patient outcomes 4. Additionally, elevated MRPL53 expression appears linked to metabolic dysfunction, with increased levels observed in diabetic patients' colon tissue, suggesting involvement in diabetes-associated carcinogenesis through mitochondrial dysfunction 5. These findings underscore MRPL53's importance in both developmental processes and disease pathogenesis.

Sources cited
1
MRPL53 encodes a 39S mitochondrial ribosomal protein subunit, interacts with MYC, is associated with orofacial cleft susceptibility via eQTL variant rs1063588
PMID: 29053389
2
MRPL53 variants contribute to risk of orofacial clefts in multi-ethnic populations
PMID: 34061439
3
MRPL53 is a component of mitochondrial ribosomal complexes and co-migrates with other mitoribsomal subunits
PMID: 23935861
4
MRPL53 identified as one of 16 prognostic RNA-binding proteins associated with poor overall survival in hepatocellular carcinoma
PMID: 36524514
5
MRPL53 is upregulated in normal colonic mucosa of diabetic patients and associated with mitochondrial dysfunction in diabetes-related carcinogenesis
PMID: 31199051
Disease Associationsⓘ11
neurodegenerative diseaseOpen Targets
0.51Moderate
allergic rhinitisOpen Targets
0.01Suggestive
orofacial cleftOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
memory impairmentOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
cleft lipOpen Targets
0.00Suggestive
cleft palateOpen Targets
0.00Suggestive
hypertrophic cardiomyopathyOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GATBShared pathway100%MRPS28Shared pathway100%PTCD3Shared pathway100%MRPS10Shared pathway100%MRPS22Shared pathway100%MRPS35Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
58%
Lung
40%
Bone Marrow
37%
Heart
34%
Brain
25%
Gene Interaction Network
Click a node to explore
MRPL53GATBMRPS28PTCD3MRPS10MRPS22MRPS35
PROTEIN STRUCTURE
Preparing viewer…
PDB7OF0 · 2.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.48LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.80 [0.45–1.48]
RankingsWhere MRPL53 stands among ~20K protein-coding genes
  • #7,577of 20,598
    Most Researched61
  • #15,054of 17,882
    Most Constrained (LOEUF)1.48
Genes detectedMRPL53
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.
PMID: 34061439
Oral Dis · 2022
1.00
2
MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.
PMID: 29053389
J Dent Res · 2018
0.89
3
Osteopontin Facilitated Dental Pulp Cell Adhesion and Differentiation: A Laboratory Investigation.
PMID: 39865657
ACS Appl Bio Mater · 2025
0.78
4
Cuproptosis genes in predicting the occurrence of allergic rhinitis and pharmacological treatment.
PMID: 39913623
PLoS One · 2025
0.67
5
Exploration and validation of the prognostic value of RNA-binding proteins in hepatocellular carcinoma.
PMID: 36524514
Eur Rev Med Pharmacol Sci · 2022
0.56