MRPL36: Mitochondrial Ribosomal Protein L36
A nuclear-encoded component of the mitochondrial large ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPL36 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L36 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 64979 ncbi.nlm.nih.gov/gene/64979 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q9Y3U8 |
| OMIM ID | 611842 |
| HGNC ID | 14491 |
| Aliases | MRP-L36, L36mt, 39S ribosomal protein L36, mitochondrial |
Description
MRPL36 encodes a 39S subunit protein of the mitochondrial ribosome. This nuclear-encoded protein is imported into mitochondria and assembles into the large ribosomal subunit (mt-LSU), where it participates in mitochondrial translation of 13 essential subunits of the oxidative phosphorylation (OXPHOS) complexes. MRPL36 is a core component of the mitochondrial ribosome and is required for normal mitochondrial function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (COXPD) | Defects in mitochondrial translation due to MRPL36 mutations impair assembly of OXPHOS complexes, leading to energy deficiency. | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Impaired translation of mtDNA-encoded complex I subunits (ND1-ND6) due to ribosomal dysfunction. | ClinVar |
| Leigh syndrome (associated) | Secondary mitochondrial dysfunction from defective translation may contribute to neurodegenerative phenotypes. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.4 | Low |
| Kidney | 7.1 | Low |
| Pancreas | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression in embryonic kidney cells |
| HeLa | 11.0 | Moderate expression in cervical cancer cells |
| K562 | 9.5 | Moderate expression in leukemia cells |
| HepG2 | 8.8 | Moderate expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown; predicted possibly damaging by in silico tools |
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Unknown; reported in ClinVar as uncertain significance |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function; may abolish translation initiation |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1Val) or nonsense/frameshift variants that truncate the protein are predicted to cause loss of function, impairing mitochondrial ribosome assembly and translation.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPL36.
Dominant Negative (DN)
No dominant-negative mutations reported; MRPL36 is expected to act recessively.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • translation (GO:0006412) | • mitochondrial translation (GO:0032543) |
| • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (REACT: R-HSA-5368287)
• Organelle biogenesis and maintenance (REACT: R-HSA-1852241)
Protein Summary
MRPL36 is a 175-amino-acid protein (19.5 kDa) that localizes to the mitochondrial matrix. It is a component of the 39S large ribosomal subunit (mt-LSU) and directly contacts rRNA and other ribosomal proteins to stabilize the ribosome structure. The protein contains a conserved ribosomal protein L36 domain. MRPL36 is essential for the accurate translation of mtDNA-encoded proteins, particularly those of the OXPHOS system. Defects in MRPL36 can lead to combined oxidative phosphorylation deficiency and mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL36 Knockout HEK293 Cell Line | EDJ-KQ14305 | Human | 64979 | Details Get a Quote |
| MRPL36 Knockout HCT 116 Cell Line | EDJ-KQ44377 | Human | 64979 | Details Get a Quote |
| MRPL36 Knockout HeLa Cell Line | EDJ-KQ44378 | Human | 64979 | Details Get a Quote |
| MRPL36 Knockout A-549 Cell Line | EDJ-KQ65609 | Human | 64979 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
