MRPL3
Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.[4]
MRPL3 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | MRPL3, COXPD9, MRL3, RPML3, mitochondrial ribosomal protein L3 | ||||||||||||||||||||||||
External IDs | OMIM: 607118 MGI: 2137204 HomoloGene: 31431 GeneCards: MRPL3 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
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Location (UCSC) | Chr 3: 131.46 – 131.5 Mb | n/a | |||||||||||||||||||||||
PubMed search | [2] | [3] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008].[4]
Clinical relevance
Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.[5]
References
- GRCh38: Ensembl release 89: ENSG00000114686 - 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.
- "Entrez Gene: Mitochondrial ribosomal protein L3". Retrieved 2011-12-30.
- Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A (November 2011). "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Hum. Mutat. 32 (11): 1225–31. doi:10.1002/humu.21562. PMID 21786366. S2CID 46713472.
Further reading
- Kenmochi, N.; Suzuki, T.; Uechi, T.; Magoori, M.; Kuniba, M.; Higa, S.; Watanabe, K.; Tanaka, T. (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, J. H.; Yen, T. S.; Wang, Y. F.; Kam, W. K.; Rutter, W. J. (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.