MRPL35: Mitochondrial Ribosomal Protein L35
A nuclear-encoded component of the mitochondrial large ribosomal subunit essential for intra-mitochondrial protein synthesis.
Gene Information Card
| Symbol | MRPL35 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L35 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 51318 ncbi.nlm.nih.gov/gene/51318 |
| Ensembl ID | ENSG00000115904 |
| UniProt ID | Q9NZE8 |
| OMIM ID | 611842 |
| HGNC ID | 14492 |
| Aliases | L35mt, MRP-L35, 39S ribosomal protein L35, mitochondrial |
Description
MRPL35 encodes a 39S subunit protein of the mitochondrial ribosome. This nuclear-encoded protein is imported into the mitochondrion where it assembles into the large ribosomal subunit (mt-LSU) and participates in mitochondrial translation. MRPL35 is essential for the synthesis of 13 oxidative phosphorylation (OXPHOS) subunits encoded by the mitochondrial genome. Loss of MRPL35 function impairs mitochondrial protein synthesis and respiratory chain complex assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (COXPD) | Defective mitochondrial translation due to MRPL35 loss leads to reduced synthesis of mtDNA-encoded OXPHOS subunits, causing multi-system respiratory chain deficiency. | ClinVar; PMID: 28934388 |
| Mitochondrial encephalopathy | Impaired mitochondrial protein synthesis in neural tissues results in energy failure and neurological symptoms. | OMIM #611842; PMID: 28934388 |
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 |
| Testis | 9.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical adenocarcinoma; high expression |
| HEK293 | 11.5 | Embryonic kidney; moderate expression |
| K562 | 8.9 | Leukemia; moderate expression |
| HepG2 | 7.6 | Hepatocellular carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245C>T (p.Pro82Leu) | Missense | Rare | Reduced protein stability and impaired mitochondrial translation |
| c.334_335delAG (p.Arg112Glufs*3) | Frameshift | Very rare | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation; complete loss of MRPL35 |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants cause complete loss of MRPL35, leading to defective mitochondrial translation and combined OXPHOS deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPL35.
Dominant Negative (DN)
No dominant-negative mutations reported; MRPL35 deficiency is recessive.
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) |
| • translation (GO:0006412) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL35 is a 35 kDa protein (324 amino acids) localized to the mitochondrial matrix. It is a component of the 39S large ribosomal subunit (mt-LSU) and interacts with 16S rRNA and other ribosomal proteins to form a functional mitoribosome. The protein contains a pentatricopeptide repeat (PPR) domain that facilitates RNA binding. MRPL35 is essential for the accurate decoding of mitochondrial mRNAs and the synthesis of 13 OXPHOS subunits. Mutations in MRPL35 cause combined oxidative phosphorylation deficiency (COXPD) with variable clinical severity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL35 Knockout HEK293 Cell Line | EDJ-KQ51305 | Human | 51318 | Details Get a Quote |
| MRPL35 Knockout HeLa Cell Line | EDJ-KQ56284 | Human | 51318 | Details Get a Quote |
| MRPL35 Knockout A-549 Cell Line | EDJ-KQ64772 | Human | 51318 | Details Get a Quote |
| MRPL35 Knockout HCT 116 Cell Line | EDJ-KQ73221 | Human | 51318 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
