| MRPS12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MRPS12, MPR-S12, MT-RPS12, RPMS12, RPS12, RPSM12, mitochondrial ribosomal protein S12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603021 MGI: 1346333 HomoloGene: 6848 GeneCards: MRPS12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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28S ribosomal protein S12, mitochondrial is a protein that in humans is encoded by the MRPS12 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 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein.[7]
References
- 1 2 3 ENSG00000128626 GRCh38: Ensembl release 89: ENSG00000283018, ENSG00000128626 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000045948 - 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.
- ↑ Shah ZH, Migliosi V, Miller SC, Wang A, Friedman TB, Jacobs HT (Jun 1998). "Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus". Genomics. 48 (3): 384–8. doi:10.1006/geno.1997.5166. PMID 9545647.
- ↑ Johnson DF, Hamon M, Fischel-Ghodsian N (Dec 1998). "Characterization of the human mitochondrial ribosomal S12 gene". Genomics. 52 (3): 363–8. doi:10.1006/geno.1998.5448. PMID 9790755.
- 1 2 "Entrez Gene: MRPS12 mitochondrial ribosomal protein S12".
Further reading
- Shah ZH, O'Dell KM, Miller SC, et al. (1998). "Metazoan nuclear genes for mitoribosomal protein S12". Gene. 204 (1–2): 55–62. doi:10.1016/S0378-1119(97)00521-0. PMID 9434165.
- Mariottini P, Shah ZH, Toivonen JM, et al. (1999). "Expression of the gene for mitoribosomal protein S12 is controlled in human cells at the levels of transcription, RNA splicing, and translation". J. Biol. Chem. 274 (45): 31853–62. doi:10.1074/jbc.274.45.31853. PMID 10542210.
- Cavdar Koc E, Burkhart W, Blackburn K, et al. (2001). "The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present" (PDF). J. Biol. Chem. 276 (22): 19363–74. doi:10.1074/jbc.M100727200. PMID 11279123. S2CID 26254238.
- Suzuki T, Terasaki M, Takemoto-Hori C, et al. (2001). "Proteomic analysis of the mammalian mitochondrial ribosome. Identification of protein components in the 28 S small subunit". J. Biol. Chem. 276 (35): 33181–95. doi:10.1074/jbc.M103236200. PMID 11402041.
- Kenmochi N, Suzuki T, Uechi T, et al. (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.
- 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.
- Cui YP, Wang JB, Zhang XY, et al. (2003). "Using yeast two-hybrid system to identify ECRG2 associated proteins and their possible interactions with ECRG2 gene". World J. Gastroenterol. 9 (9): 1892–6. doi:10.3748/wjg.v9.i9.1892. PMC 4656638. PMID 12970870.
- 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.
- Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.