MRPL1 Gene - Mitochondrial Ribosomal Protein L1 | Function, Mutations & Disease

MRPL1 encodes a 39S subunit protein of the mitochondrial ribosome. This nuclear-encoded ribosomal protein is imported into mitochondria and assembles into the large ribosomal subunit, where it participates in mitochondrial translation. MRPL1 is essential for the synthesis of 13 subunits of the oxidative phosphorylation (OXPHOS) complexes encoded by the mitochondrial genome. Defects in MRPL1 can impair mitochondrial protein synthesis, leading to combined OXPHOS deficiency and mitochondrial disease.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Mitochondrial translation (REACT_17168)

• Oxidative phosphorylation (KEGG:00190)

• Organelle biogenesis and maintenance (REACT_17015)

MRPL1 is a 39S mitochondrial ribosomal protein (MRP-L1) 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 binds rRNA and other ribosomal proteins to facilitate translation of the 13 mtDNA-encoded OXPHOS subunits. MRPL1 contains a pentatricopeptide repeat (PPR) domain that may assist in RNA binding. Loss of MRPL1 function leads to defective mitochondrial translation, combined OXPHOS deficiency, and mitochondrial disease phenotypes.