MRPL3

Mitochondrial ribosomal protein L3
Identifiers
Symbols MRPL3; MRL3; RPML3
External IDs OMIM: 607118 HomoloGene: 31431 GeneCards: MRPL3 Gene
Orthologs
Species Human Mouse
Entrez 11222 94062
Ensembl ENSG00000114686 ENSMUSG00000032563
UniProt P09001 Q99N95
RefSeq (mRNA) NM_007208.3 NM_053159.3
RefSeq (protein) NP_009139.1 NP_444389.2
Location (UCSC) Chr 3:
131.18 – 131.22 Mb		 Chr 9:
104.96 – 104.98 Mb
PubMed search [1] [2]

Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.[1]

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].[1]

Clinical relevance

Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.[2]

References

  1. ^ a b "Entrez Gene: Mitochondrial ribosomal protein L3". http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=11222. Retrieved 2011-12-30T01:52:04.975-08:00. 
  2. ^ 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. 

Further reading