Mitochondrial ribosomal protein L40

MRPL40
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3J7Y, 3J9M
Identifiers
Aliases	MRPL40, MRP-L22, MRPL22, NLVCF, URIM, L40mt, MRP-L40, mitochondrial ribosomal protein L40
External IDs	OMIM: 605089; MGI: 1332635; HomoloGene: 2800; GeneCards: MRPL40; OMA:MRPL40 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.21 Start 19,432,545 bp[1] End 19,436,075 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 11.69 cM Start 18,690,768 bp[2] End 18,695,612 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of rectus abdominis muscle of arm biceps brachii right ventricle Skeletal muscle tissue of biceps brachii olfactory zone of nasal mucosa gastrocnemius muscle triceps brachii muscle body of tongue vastus lateralis muscle Top expressed in embryo morula morula epiblast embryo endothelial cell of lymphatic vessel epithelium of stomach primitive streak yolk sac otic placode More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding RNA binding Cellular component mitochondrial inner membrane ribosome nucleus mitochondrion mitochondrial large ribosomal subunit mitochondrial ribosome Biological process anatomical structure morphogenesis mitochondrial translational elongation mitochondrial translational termination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64976 18100 Ensembl ENSG00000185608 ENSMUSG00000022706 UniProt Q9NQ50 Q9Z2Q5 RefSeq (mRNA) NM_003776 NM_001318151 NM_001318152 NM_010922 RefSeq (protein) NP_001305080 NP_001305081 NP_003767 NP_035052 Location (UCSC) Chr 22: 19.43 – 19.44 Mb Chr 16: 18.69 – 18.7 Mb PubMed search [3] [4]
Wikidata
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39S ribosomal protein L40, mitochondrial is a protein that in humans is encoded by the MRPL40 gene.^[5][6][7]

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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome.^[7]

References

Further reading

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