Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.[5] The MRPL3 gene encodes a protein of the 39S large subunit of the mitoribosome, which belongs to the L3P ribosomal protein family. Additionally, a pseudogene corresponding to this gene is located on chromosome 13q. [provided by RefSeq, Jul 2008].[5]
Mitoribosome
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and play a crucial role in protein synthesis within the mitochondrion. Mitoribosomes consist of a small 28S subunit and a large 39S subunit. Unlike prokaryotic ribosomes, mitoribosomes are composed of approximately 75% protein and 25% rRNA, whereas this ratio is reversed in prokaryotic ribosomes. Another key difference is the absence of 5S rRNA in mammalian mitoribosomes, which is present in their prokaryotic counterparts. The proteins that comprise the mitoribosome differ greatly in sequence and, in some cases, in biochemical properties across different species. This variability complicates identification by sequence homology.
Clinical relevance
Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000114686 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032563 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Mitochondrial ribosomal protein L3". Retrieved 2011-12-30.
- ^ Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, et al. (November 2011). "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Human Mutation. 32 (11): 1225–1231. doi:10.1002/humu.21562. PMID 21786366. S2CID 46713472.
Further reading
- Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, et al. (Sep 2001). "The Human Mitochondrial Ribosomal Protein Genes: Mapping of 54 Genes to the Chromosomes and Implications for Human Disorders". Genomics. 77 (1–2): 65–70. doi:10.1006/geno.2001.6622. PMID 11543634.
- Ou JH, Yen TS, Wang YF, Kam WK, Rutter WJ (Nov 1987). "Cloning and characterization of a human ribosomal protein gene with enhanced expression in fetal and neoplastic cells". Nucleic Acids Research. 15 (21): 8919–8934. doi:10.1093/nar/15.21.8919. PMC 306413. PMID 2891103.
External links
- Overview of all the structural information available in the PDB for UniProt: P09001 (39S ribosomal protein L3, mitochondrial) at the PDBe-KB.