HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
9 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MRPS28
mitochondrial ribosomal protein S28
Chromosome 8 Β· 8q21.13
NCBI Gene: 28957Ensembl: ENSG00000147586.11HGNC: HGNC:14513UniProt: A0A0S2Z563
101PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingmitochondrial translationmitochondrionmitochondrial small ribosomal subunitneurodegenerative diseasecombined oxidative phosphorylation deficiency 47Abnormal nasolacrimal system morphologyplacental retention
✦AI Summary

MRPS28 encodes a small mitochondrial ribosomal subunit protein (bS1m) essential for mitochondrial protein synthesis. The protein functions as a structural component of the mitochondrial small ribosomal subunit (mtSSU) 1, where it participates in the translation of the 13 mtDNA-encoded polypeptides required for oxidative phosphorylation (OXPHOS) complex biogenesis 1. Mutations in MRPS28 impair mtSSU assembly and mitochondrial translation, consequently compromising OXPHOS biogenesis and cellular respiration 1. Pathogenic variants cause Combined Oxidative Phosphorylation Deficiency 47, presenting with intrauterine growth retardation, craniofacial dysmorphism, and developmental delay 1. Beyond monogenic mitochondrial disease, MRPS28 expression is dysregulated in multiple cancer types. MRPS28 is upregulated in bladder cancer where CENPU promotes its expression to enhance tumor progression 2, and serves as part of a lactate metabolism-related prognostic signature in breast cancer 3. Conversely, MRPS28 expression is downregulated by benzyl isothiocyanate in glioblastoma 4 and responds to ionizing radiation in cervical carcinoma cells 5. MRPS28 is also implicated as a mitochondrial biomarker in follicular thyroid tumors 6 and major depressive disorder 7, suggesting broader roles in mitochondrial dysfunction-associated pathology.

Sources cited
1
MRPS28 encodes small mitoribosomal subunit protein bS1m; mutations cause impaired mtSSU assembly, decreased mitochondrial translation, compromised OXPHOS biogenesis, and clinical disease with intrauterine growth retardation, craniofacial dysmorphism, and developmental delay
PMID: 30566640
2
MRPS28 is upregulated in bladder cancer; CENPU promotes MRPS28 expression, which enhances bladder cancer cell viability, migration, and invasion
PMID: 33602882
3
MRPS28 is one of six signature genes in a lactate metabolism-related prognostic model for breast cancer with high predictive accuracy
PMID: 41005389
4
MRPS28 expression is inhibited 2.06-fold in glioblastoma cells treated with benzyl isothiocyanate
PMID: 26781422
5
A splice variant of MRPS28 is differentially expressed in response to radiation in cervical carcinoma cells
PMID: 23923566
6
MRPS28 is one of four mitochondrial metabolism genes differentially expressed in thyroid tumors that helps discriminate between adenomas and papillary carcinomas
PMID: 23569218
7
MRPS28 is identified as one of seven characteristic mitochondria-related genes with diagnostic value in major depressive disorder and correlation with immune cell infiltration
PMID: 38199392
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.51Moderate
combined oxidative phosphorylation deficiency 47Open Targets
0.50Moderate
Abnormal nasolacrimal system morphologyOpen Targets
0.33Weak
placental retentionOpen Targets
0.30Weak
osteitis deformansOpen Targets
0.26Weak
synovium disorderOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.09Suggestive
femur fractureOpen Targets
0.03Suggestive
urinary bladder carcinomaOpen Targets
0.03Suggestive
diabetic ketoacidosisOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.03Suggestive
chondromalaciaOpen Targets
0.03Suggestive
auditory system diseaseOpen Targets
0.03Suggestive
immune system diseaseOpen Targets
0.03Suggestive
corneal ulcerOpen Targets
0.02Suggestive
neuropathyOpen Targets
0.02Suggestive
optic neuritisOpen Targets
0.02Suggestive
Pancreatic pseudocystOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.01Suggestive
Combined oxidative phosphorylation deficiency 47UniProt
Pathogenic Variants2
NC_000008.11:g.(79919149_80002998)_(80003181_80030035)delPathogenic
Combined oxidative phosphorylation deficiency 47
β˜†β˜†β˜†β˜†2020
NM_014018.3(MRPS28):c.356A>G (p.Lys119Arg)Pathogenic
Combined oxidative phosphorylation deficiency 47
β˜†β˜†β˜†β˜†2020β†’ Residue 119
View on ClinVar β†—
Related Genes
MRPL53Shared pathway100%GADD45GIP1Shared pathway100%MRPL45Shared pathway100%MRPL57Shared pathway100%MRPL38Shared pathway100%MRPS6Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
72%
Liver
65%
Lung
24%
Bone Marrow
21%
Ovary
19%
Gene Interaction Network
Click a node to explore
MRPS28MRPL53GADD45GIP1MRPL45MRPL57MRPL38MRPS6
PROTEIN STRUCTURE
Preparing viewer…
PDB7QI4 Β· 2.21 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.64LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.06 [0.70–1.64]
RankingsWhere MRPS28 stands among ~20K protein-coding genes
  • #4,727of 20,598
    Most Researched101 Β· top quartile
  • #4,317of 5,498
    Most Pathogenic Variants2
  • #15,861of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedMRPS28
Sources retrieved9 papers
Response timeβ€”
πŸ“„ Sources
9β–Ό
1
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
PMID: 30566640
Hum Mol Genet Β· 2019
1.00
2
Integrative single-cell and bulk RNA sequencing of lactate metabolism identifies PDP-1 as a prognostic biomarker in breast cancer.
PMID: 41005389
Int J Biol Macromol Β· 2025
0.89
3
Centromere protein U enhances the progression of bladder cancer by promoting mitochondrial ribosomal protein s28 expression.
PMID: 33602882
Korean J Physiol Pharmacol Β· 2021
0.78
4
Benzyl isothiocyanate alters the gene expression with cell cycle regulation and cell death in human brain glioblastoma GBM 8401 cells.
PMID: 26781422
Oncol Rep Β· 2016
0.67
5
Variant of mitochondrial ribosomal protein s28 (mrps28) gene is differentially expressed in response to radiation in a cervical carcinoma derived cell line.
PMID: 23923566
Indian J Biochem Biophys Β· 2005
0.56