MRPL33: Mitochondrial Ribosomal Protein L33
A component of the mitochondrial large ribosomal subunit involved in mitochondrial translation and energy metabolism.
Gene Information Card
| Symbol | MRPL33 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L33 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.1 |
| NCBI Gene ID | 9553 ncbi.nlm.nih.gov/gene/9553 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | O75394 |
| OMIM ID | 611838 |
| HGNC ID | 14038 |
| Aliases | L33mt, MRP-L33, RPL33L |
Description
MRPL33 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 system. MRPL33 is localized to the mitochondrion and is involved in ribosome assembly and stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Deficiency in mitochondrial translation due to MRPL33 mutations impairs OXPHOS complex assembly | PMID: 31474318 |
| Hepatocellular carcinoma | Altered MRPL33 expression may affect mitochondrial metabolism and tumor progression | PMID: 30333007 |
| Colorectal cancer | MRPL33 upregulation associated with poor prognosis and metabolic reprogramming | PMID: 31570863 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Skeletal Muscle | 9.2 | Medium |
| Kidney | 8.1 | Medium |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| K562 | 11.7 | Chronic myeloid leukemia cell line |
| HeLa | 9.8 | Cervical adenocarcinoma cell line |
| A549 | 8.5 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | Rare | Impaired mitochondrial ribosome assembly and reduced translation |
| c.334C>T (p.Arg112*) | Nonsense | Very rare | Premature truncation, loss of function |
| c.418_419del (p.Glu140fs) | Frameshift | Rare | Loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing mitochondrial translation.
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:0005763) |
| • mitochondrial translation (GO:0032543) | • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL33 is a 33 kDa protein that forms part of the mitochondrial large ribosomal subunit. It is synthesized in the cytosol and imported into mitochondria, where it assembles with rRNA and other ribosomal proteins to form functional ribosomes. MRPL33 is essential for the translation of mtDNA-encoded proteins, particularly subunits of complexes I, III, IV, and V of the oxidative phosphorylation system. Loss of MRPL33 function leads to impaired mitochondrial protein synthesis and cellular energy deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL33 Knockout HEK293 Cell Line | EDJ-KQ50881 | Human | 9553 | Details Get a Quote |
| MRPL33 Knockout HeLa Cell Line | EDJ-KQ55194 | Human | 9553 | Details Get a Quote |
| MRPL33 Knockout A-549 Cell Line | EDJ-KQ63676 | Human | 9553 | Details Get a Quote |
| MRPL33 Knockout HCT 116 Cell Line | EDJ-KQ72138 | Human | 9553 | Details Get a Quote |
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