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; OMA:MRPL3 - orthologs
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 gingival epithelium mucosa of sigmoid colon corpus epididymis caput epididymis sperm right ventricle germinal epithelium kidney tubule Top expressed in endocardial cushion atrioventricular valve hair follicle Paneth cell endothelial cell of lymphatic vessel ureter medullary collecting duct primitive streak soleus muscle renal corpuscle 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] The MRPL3 gene encodes a protein of the 39S large subunit of the mitoribosome, which belongs to the L3P ribosomal protein family. Additionally, a pseudogene corresponding to this gene is located on chromosome 13q. [provided by RefSeq, Jul 2008]. ^[5]

Mitoribosome

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and play a crucial role in protein synthesis within the mitochondrion. Mitoribosomes consist of a small 28S subunit and a large 39S subunit. Unlike prokaryotic ribosomes, mitoribosomes are composed of approximately 75% protein and 25% rRNA, whereas this ratio is reversed in prokaryotic ribosomes. Another key difference is the absence of 5S rRNA in mammalian mitoribosomes, which is present in their prokaryotic counterparts. The proteins that comprise the mitoribosome differ greatly in sequence and, in some cases, in biochemical properties across different species. This variability complicates identification by sequence homology.

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, et al. (November 2011). "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Human Mutation. 32 (11): 1225–1231. doi: 10.1002/humu.21562 . PMID   21786366. S2CID   46713472.

Further reading

• Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, et al. (Sep 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 JH, Yen TS, Wang YF, Kam WK, Rutter WJ (Nov 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 .