MRPL3

MRPL3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMRPL3, COXPD9, MRL3, RPML3, mitochondrial ribosomal protein L3
External IDsMGI: 2137204 HomoloGene: 31431 GeneCards: MRPL3
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3q22.1Start131,462,212 bp[1]
End131,502,983 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

11222

94062

Ensembl

ENSG00000114686

ENSMUSG00000032563

UniProt

P09001

Q99N95

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 MbChr 9: 105.05 – 105.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.[5]

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].[5]

Clinical relevance

Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000114686 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032563 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: Mitochondrial ribosomal protein L3". Retrieved 2011-12-30.
  6. ↑ 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

  • 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.
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