MRPL57
Mitochondrial Ribosomal Protein L57
Gene Information Card
| Symbol | MRPL57 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L57 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 78988 ncbi.nlm.nih.gov/gene/78988 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9BQC6 |
| OMIM ID | 611835 |
| HGNC ID | 16647 |
| Aliases | MRP-L57, L57mt, 39S ribosomal protein L57, mitochondrial |
Description
MRPL57 encodes a 39S subunit protein of the mitochondrial ribosome. Mitochondrial ribosomes translate mRNAs encoded by the mitochondrial genome and are essential for oxidative phosphorylation. MRPL57 is a component of the large (39S) subunit and is involved in mitochondrial protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Deficiency in mitochondrial translation due to MRPL57 mutations may impair OXPHOS complex assembly | ClinVar: Pathogenic variants reported in rare cases of mitochondrial disease |
| Mitochondrial respiratory chain disorders | Loss of MRPL57 function reduces mitochondrial ribosome assembly and translation | Inferred from functional studies and gene ontology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Kidney | 7.9 | Medium |
| Brain | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Ubiquitous expression |
| HEK293 | 13.1 | Ubiquitous expression |
| K562 | 11.7 | Ubiquitous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense variants that disrupt mitochondrial ribosome assembly or translation are likely loss-of-function.
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)
| • mitochondrial large ribosomal subunit | • structural constituent of ribosome |
| • mitochondrial translation | • ribosome biogenesis |
Pathways
• Mitochondrial translation
• Organelle biogenesis and maintenance
Protein Summary
MRPL57 is a 39S mitochondrial ribosomal protein that forms part of the large subunit of the mitochondrial ribosome. It is essential for mitochondrial protein synthesis, particularly for the translation of 13 core subunits of the oxidative phosphorylation complexes. The protein is ubiquitously expressed with higher levels in metabolically active tissues such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL57 Knockout HEK293 Cell Line | EDJ-KQ14306 | Human | 78988 | Details Get a Quote |
| MRPL57 Knockout A-549 Cell Line | EDJ-KQ44382 | Human | 78988 | Details Get a Quote |
| MRPL57 Knockout HCT 116 Cell Line | EDJ-KQ44383 | Human | 78988 | Details Get a Quote |
| MRPL57 Knockout HeLa Cell Line | EDJ-KQ44384 | Human | 78988 | Details Get a Quote |
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