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
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 biceps brachii right ventricle gastrocnemius muscle triceps brachii muscle body of tongue vastus lateralis muscle thoracic diaphragm deltoid muscle bronchial epithelial cell parotid gland Top expressed in morula epithelium of stomach primitive streak yolk sac otic placode superior surface of tongue interventricular septum gallbladder abdominal wall endocardial cushion 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
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000185608 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022706 - 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. Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B (Dec 1998). "Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11". Genomics. 53 (2): 146–54. doi:10.1006/geno.1998.5488. PMID   9790763.
6. Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T (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.
7. "Entrez Gene: MRPL40 mitochondrial ribosomal protein L40".

Further reading

• Goldschmidt-Reisin S, Kitakawa M, Herfurth E, et al. (1999). "Mammalian mitochondrial ribosomal proteins. N-terminal amino acid sequencing, characterization, and identification of corresponding gene sequences". J. Biol. Chem. 273 (52): 34828–36. doi: 10.1074/jbc.273.52.34828 . PMID   9857009.
• Hildebrandt T, Preiherr J, Klostermann S, et al. (1999). "Identification of URIM, a novel gene up-regulated in metastasis". Anticancer Res. 19 (1A): 525–30. PMID   10226592.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Zhang Z, Gerstein M (2003). "Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome". Genomics. 81 (5): 468–80. doi:10.1016/S0888-7543(03)00004-1. PMID   12706105.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi: 10.1186/gb-2004-5-10-r84 . PMC   545604 . PMID   15461802.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.