| MRPL40 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000185608 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022706 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ 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.
- ↑ 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.
- 1 2 "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.
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