MRPL10: Mitochondrial Ribosomal Protein L10
A core component of the mitochondrial large ribosomal subunit involved in mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPL10 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L10 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 9330 ncbi.nlm.nih.gov/gene/9330 |
| Ensembl ID | ENSG00000108946 |
| UniProt ID | Q9Y3D3 |
| OMIM ID | 611822 |
| HGNC ID | 14078 |
| Aliases | L10mt, MRP-L10, MRPL10_HUMAN |
Description
MRPL10 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the mitochondrial large ribosomal subunit and is essential for mitochondrial translation, which produces proteins required for oxidative phosphorylation. The gene is located on chromosome 17q21.33 and is expressed ubiquitously.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency | Defects in mitochondrial translation due to MRPL10 mutations impair OXPHOS complex assembly | ClinVar, OMIM |
| Mitochondrial Encephalopathy | Loss of MRPL10 function leads to reduced mitochondrial protein synthesis and energy failure | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.2 | Medium |
| Liver | 12.5 | Medium |
| Brain | 10.8 | Medium |
| Skeletal Muscle | 15.3 | Medium |
| Kidney | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 13.2 | Embryonic kidney cells |
| K562 | 12.0 | Leukemia cell line |
| HepG2 | 11.8 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | Rare | Reduced mitochondrial translation efficiency |
| c.412C>T (p.Arg138Trp) | Missense | Rare | Impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Asn96Ser, p.Arg138Trp) reduce mitochondrial translation and OXPHOS activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005762) |
| • mitochondrial translation (GO:0032543) | • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
Mitochondrial ribosomal protein L10 (MRPL10) is a 261-amino-acid protein that localizes to the mitochondrion and forms part of the 39S large ribosomal subunit. It interacts with rRNA and other ribosomal proteins to facilitate translation of 13 mtDNA-encoded OXPHOS subunits. Defects in MRPL10 can lead to mitochondrial dysfunction and combined oxidative phosphorylation deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL10 Knockout HEK293 Cell Line | EDJ-KQ51961 | Human | 124995 | Details Get a Quote |
| MRPL10 Knockout HeLa Cell Line | EDJ-KQ58148 | Human | 124995 | Details Get a Quote |
| MRPL10 Knockout A-549 Cell Line | EDJ-KQ66633 | Human | 124995 | Details Get a Quote |
| MRPL10 Knockout HCT 116 Cell Line | EDJ-KQ75053 | Human | 124995 | Details Get a Quote |
