MRPL30: Mitochondrial Ribosomal Protein L30
A core component of the mitochondrial large ribosomal subunit involved in intra-mitochondrial protein synthesis.
Gene Information Card
| Symbol | MRPL30 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L30 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 51263 ncbi.nlm.nih.gov/gene/51263 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q8TCC3 |
| OMIM ID | 611835 |
| HGNC ID | 14035 |
| Aliases | MRP-L30, L30mt, 39S ribosomal protein L30, mitochondrial |
Description
MRPL30 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. It is encoded by a nuclear gene and imported into mitochondria. MRPL30 is part of the mitochondrial ribosomal protein family, which is distinct from cytoplasmic ribosomes and specifically translates the 13 polypeptides encoded by the mitochondrial genome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Deficiency in mitochondrial translation due to MRPL30 mutations leads to impaired OXPHOS complex assembly | PMID: 25609786 |
| Mitochondrial disease (general) | Loss of MRPL30 function reduces mitochondrial protein synthesis, causing energy metabolism defects | ClinVar: pathogenic variants reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 9.1 | Low |
| Skeletal Muscle | 14.2 | Medium |
| Kidney | 10.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression in cervical cancer cell line |
| HEK293 | 13.2 | Moderate expression in embryonic kidney cells |
| K562 | 11.8 | Moderate expression in leukemia 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 | Likely pathogenic; affects ribosomal assembly |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of translation initiation; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce or abolish MRPL30 protein function, impairing mitochondrial translation.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPL30.
Dominant Negative (DN)
No dominant-negative mutations reported for MRPL30.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance
Protein Summary
MRPL30 is a 39S mitochondrial ribosomal protein (L30) that forms part of the large subunit of the mitochondrial ribosome. It is synthesized in the cytosol and imported into the mitochondrial matrix, where it assembles with mitochondrial-encoded rRNA and other nuclear-encoded proteins to form a functional ribosome. MRPL30 is essential for the translation of 13 mitochondrial-encoded subunits of the oxidative phosphorylation system. Defects in MRPL30 can lead to combined oxidative phosphorylation deficiency and mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL30 Knockout HEK293 Cell Line | EDJ-KQ51299 | Human | 51263 | Details Get a Quote |
| MRPL30 Knockout HeLa Cell Line | EDJ-KQ56262 | Human | 51263 | Details Get a Quote |
| MRPL30 Knockout A-549 Cell Line | EDJ-KQ64751 | Human | 51263 | Details Get a Quote |
| MRPL30 Knockout HCT 116 Cell Line | EDJ-KQ73197 | Human | 51263 | Details Get a Quote |
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