MRPL49: Mitochondrial Ribosomal Protein L49
A core component of the mitochondrial large ribosomal subunit essential for intra-mitochondrial protein synthesis.
Gene Information Card
| Symbol | MRPL49 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L49 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 740 ncbi.nlm.nih.gov/gene/740 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | Q13405 |
| OMIM ID | 611916 |
| HGNC ID | 14073 |
| Aliases | L49mt, MRP-L49, NOF1, bL49m |
Description
MRPL49 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the large ribosomal subunit (mt-LSU) and is essential for mitochondrial translation, which produces 13 subunits of the oxidative phosphorylation (OXPHOS) system. MRPL49 is also known as NOF1 (Nucleolar protein 1) due to its initial identification in the nucleolus, though its primary function is mitochondrial.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Deficient mitochondrial translation due to MRPL49 loss leads to impaired assembly of OXPHOS complexes I, III, IV, and V. | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Reduced MRPL49 expression decreases synthesis of mtDNA-encoded complex I subunits (e.g., ND1-6). | NCBI Gene, PubMed |
| Hepatocellular carcinoma | MRPL49 overexpression correlates with increased mitochondrial biogenesis and tumor growth. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.5 | High |
| Skeletal muscle | 15.2 | High |
| Liver | 12.8 | Medium |
| Kidney | 11.4 | Medium |
| Brain | 9.7 | Medium |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | High expression in embryonic kidney cells |
| HeLa | 19.8 | High expression in cervical cancer cells |
| HepG2 | 16.4 | High expression in liver cancer cells |
| K562 | 8.5 | Moderate expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely null allele |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Reduced protein stability and ribosome assembly |
| c.421_423del (p.Lys141del) | In-frame deletion | <0.01% | Impaired mitochondrial translation |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations cause combined oxidative phosphorylation deficiency (OMIM #611916).
Gain of Function (GOF)
Not reported; overexpression in cancer is likely secondary to increased mitochondrial biogenesis.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial large ribosomal subunit | • structural constituent of ribosome |
| • mitochondrial translation | • ribosome biogenesis |
| • mitochondrion |
Pathways
• Mitochondrial translation (Reactome R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome R-HSA-1852241)
Protein Summary
MRPL49 is a 166-amino-acid protein (18.9 kDa) that localizes to the mitochondrial matrix. It is an integral component of the mitochondrial large ribosomal subunit (mt-LSU), where it interacts with 16S rRNA and other ribosomal proteins to facilitate peptide bond formation. The protein contains a conserved bL49m domain and is essential for the assembly and stability of the 39S subunit.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL49 Knockout HEK293 Cell Line | EDJ-KQ50168 | Human | 740 | Details Get a Quote |
| MRPL49 Knockout HeLa Cell Line | EDJ-KQ52755 | Human | 740 | Details Get a Quote |
| MRPL49 Knockout A-549 Cell Line | EDJ-KQ61225 | Human | 740 | Details Get a Quote |
| MRPL49 Knockout HCT 116 Cell Line | EDJ-KQ69722 | Human | 740 | Details Get a Quote |
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