Mitochondrial ribosomal protein L3

MRPL3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3J7Y, 3J9M
Identifiers
Aliases	MRPL3 , COXPD9, MRL3, RPML3, mitochondrial ribosomal protein L3
External IDs	OMIM: 607118 MGI: 2137204 HomoloGene: 31431 GeneCards: MRPL3
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q22.1 Start 131,462,212 bp [1] End 131,502,983 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 F1 Start 104,930,438 bp [2] End 104,957,087 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte tibia corpus epididymis caput epididymis sperm right ventricle germinal epithelium kidney tubule palpebral conjunctiva parietal pleura Top expressed in endocardial cushion atrioventricular valve hair follicle Paneth cell ureter medullary collecting duct primitive streak soleus muscle renal corpuscle spermatocyte More reference expression data BioGPS n/a
Gene ontology Molecular function structural constituent of ribosome RNA binding Cellular component mitochondrial inner membrane ribosome intracellular anatomical structure mitochondrion mitochondrial large ribosomal subunit Biological process mitochondrial translational elongation mitochondrial translational termination protein biosynthesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 9: 104.93 – 104.96 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000114686 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032563 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "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. 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.

External links

• Overview of all the structural information available in the PDB for UniProt : P09001 (39S ribosomal protein L3, mitochondrial) at the PDBe-KB .