RPL21
60S ribosomal protein L21 is a protein that in humans is encoded by the RPL21 gene.[1][2][3]
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.[3]
Clinical relevance
Mutations in the RPL21 gene result in Hypertrichosis simplex of the scalp.[4]
References
- ^ Nakamichi NN, Kao FT, Wasmuth J, Roufa DJ (Jul 1986). "Ribosomal protein gene sequences map to human chromosomes 5, 8, and 17". Somat Cell Mol Genet 12 (3): 225–36. doi:10.1007/BF01570781. PMID 3459254.
- ^ Frigerio JM, Dagorn JC, Iovanna JL (Jul 1995). "Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs". Biochim Biophys Acta 1262 (1): 64–8. PMID 7772601.
- ^ a b "Entrez Gene: RPL21 ribosomal protein L21". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6144.
- ^ Zhou C, Zang D, Jin Y et al. (March 2011). "Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex". Human Mutation 32 (7): 710–4. doi:10.1002/humu.21503. PMID 21412954.
Further reading
- Wool IG, Chan YL, Glück A (1996). "Structure and evolution of mammalian ribosomal proteins". Biochem. Cell Biol. 73 (11–12): 933–47. doi:10.1139/o95-101. PMID 8722009.
- Kato S, Sekine S, Oh SW et al. (1995). "Construction of a human full-length cDNA bank". Gene 150 (2): 243–50. doi:10.1016/0378-1119(94)90433-2. PMID 7821789.
- Albertsen HM, Smith SA, Mazoyer S et al. (1994). "A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21". Nat. Genet. 7 (4): 472–9. doi:10.1038/ng0894-472. PMID 7951316.
- Kenmochi N, Kawaguchi T, Rozen S et al. (1998). "A map of 75 human ribosomal protein genes". Genome Res. 8 (5): 509–23. doi:10.1101/gr.8.5.509. PMID 9582194.
- Venter JC, Adams MD, Myers EW et al. (2001). "The sequence of the human genome". Science 291 (5507): 1304–51. doi:10.1126/science.1058040. PMID 11181995.
- Uechi T, Tanaka T, Kenmochi N (2001). "A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders". Genomics 72 (3): 223–30. doi:10.1006/geno.2000.6470. PMID 11401437.
- Bortoluzzi S, d'Alessi F, Romualdi C, Danieli GA (2002). "Differential expression of genes coding for ribosomal proteins in different human tissues". Bioinformatics 17 (12): 1152–7. doi:10.1093/bioinformatics/17.12.1152. PMID 11751223.
- Zhang W, Hawse J, Huang Q et al. (2002). "Decreased expression of ribosomal proteins in human age-related cataract". Invest. Ophthalmol. Vis. Sci. 43 (1): 198–204. PMC 2831404. PMID 11773032. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2831404.
- Yoshihama M, Uechi T, Asakawa S et al. (2002). "The human ribosomal protein genes: sequencing and comparative analysis of 73 genes". Genome Res. 12 (3): 379–90. doi:10.1101/gr.214202. PMC 155282. PMID 11875025. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=155282.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Scherer SW, Cheung J, MacDonald JR et al. (2003). "Human chromosome 7: DNA sequence and biology". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2882961.
- Odintsova TI, Müller EC, Ivanov AV et al. (2004). "Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing". J. Protein Chem. 22 (3): 249–58. doi:10.1023/A:1025068419698. PMID 12962325.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Andersen JS, Lam YW, Leung AK et al. (2005). "Nucleolar proteome dynamics". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.
- Ewing RM, Chu P, Elisma F et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1847948.