MRPL3

MRPL3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases MRPL3, COXPD9, MRL3, RPML3, mitochondrial ribosomal protein L3
External IDs MGI: 2137204 HomoloGene: 31431 GeneCards: MRPL3
Orthologs
Species Human Mouse
Entrez

11222

94062

Ensembl

ENSG00000114686

ENSMUSG00000032563

UniProt

P09001

Q99N95

RefSeq (mRNA)

NM_007208

NM_053159

RefSeq (protein)

NP_009139.1

NP_444389.2

Location (UCSC) Chr 3: 131.46 – 131.5 Mb Chr 9: 105.05 – 105.08 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.[3]

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].[3]

Clinical relevance

Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.[4]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. 1 2 "Entrez Gene: Mitochondrial ribosomal protein L3". Retrieved 2011-12-30.
  4. ↑ 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


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