MRPL3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMRPL3, COXPD9, MRL3, RPML3, mitochondrial ribosomal protein L3
External IDsOMIM: 607118 MGI: 2137204 HomoloGene: 31431 GeneCards: MRPL3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007208

NM_053159
NM_001364512
NM_001364513

RefSeq (protein)

NP_009139

NP_444389
NP_001351441
NP_001351442

Location (UCSC)Chr 3: 131.46 – 131.5 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.[4]

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000114686 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ a b "Entrez Gene: Mitochondrial ribosomal protein L3". Retrieved 2011-12-30.
  5. ^ 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