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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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RPS19

Introduction

Ribosomal protein S19, also known as RPS19, is a human gene.[1]

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 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.[1]

References

References

  1. ↑ 1.0 1.1 “Entrez Gene: RPS19 ribosomal protein S19”.
Further reading

Further reading

  • Wool IG, Chan YL, Glück A (1996). “Structure and evolution of mammalian ribosomal proteins”. Biochem. Cell Biol. 73 (11–12): 933–47. PMID 8722009.
  • Morimoto K, Lin S, Sakamoto K (2007). “The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review”. Mol. Genet. Metab. 90 (4): 358–62. doi:10.1016/j.ymgme.2006.11.004. PMID 17178250.
  • Yamamoto T (2007). “Roles of the ribosomal protein S19 dimer and the C5a receptor in pathophysiological functions of phagocytic leukocytes”. Pathol. Int. 57 (1): 1–11. doi:10.1111/j.1440-1827.2007.02049.x. PMID 17199736.
  • Kondoh N, Schweinfest CW, Henderson KW, Papas TS (1992). “Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation”. Cancer Res. 52 (4): 791–6. PMID 1339304.
  • Vladimirov SN, Ivanov AV, Karpova GG; et al. (1996). “Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry”. Eur. J. Biochem. 239 (1): 144–9. PMID 8706699.
  • Kenmochi N, Kawaguchi T, Rozen S; et al. (1998). “A map of 75 human ribosomal protein genes”. Genome Res. 8 (5): 509–23. PMID 9582194.
  • Draptchinskaia N, Gustavsson P, Andersson B; et al. (1999). “The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia”. Nat. Genet. 21 (2): 169–75. doi:10.1038/5951. PMID 9988267.
  • Willig TN, Draptchinskaia N, Dianzani I; et al. (2000). “Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression”. Blood. 94 (12): 4294–306. PMID 10590074.
  • Matsson H, Klar J, Draptchinskaia N; et al. (2000). “Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia”. Hum. Genet. 105 (5): 496–500. PMID 10598818.
  • Tentler D, Gustavsson P, Elinder G; et al. (2000). “A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome”. J. Med. Genet. 37 (2): 128–31. PMID 10662814.
  • Ramenghi U, Campagnoli MF, Garelli E; et al. (2001). “Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population”. Blood Cells Mol. Dis. 26 (5): 417–22. doi:10.1006/bcmd.2000.0324. PMID 11112378.
  • Nishimura T, Horino K, Nishiura H; et al. (2001). “Apoptotic cells of an epithelial cell line, AsPC-1, release monocyte chemotactic S19 ribosomal protein dimer”. J. Biochem. 129 (3): 445–54. PMID 11226885.
  • Soulet F, Al Saati T, Roga S; et al. (2002). “Fibroblast growth factor-2 interacts with free ribosomal protein S19”. Biochem. Biophys. Res. Commun. 289 (2): 591–6. doi:10.1006/bbrc.2001.5960. PMID 11716516.
  • Shibuya Y, Shiokawa M, Nishiura H; et al. (2001). “Identification of receptor-binding sites of monocyte chemotactic S19 ribosomal protein dimer”. Am. J. Pathol. 159 (6): 2293–301. PMID 11733378.
  • Li B, Sun M, He B; et al. (2004). “Identification of differentially expressed genes in human uterine leiomyomas using differential display”. Cell Res. 12 (1): 39–45. doi:10.1038/sj.cr.7290108. PMID 11942409.
  • 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. PMID 12477932.
  • Da Costa L, Tchernia G, Gascard P; et al. (2004). “Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology”. Blood. 101 (12): 5039–45. doi:10.1182/blood-2002-12-3878. PMID 12586610.
  • Shrestha A, Shiokawa M, Nishimura T; et al. (2003). “Switch moiety in agonist/antagonist dual effect of S19 ribosomal protein dimer on leukocyte chemotactic C5a receptor”. Am. J. Pathol. 162 (4): 1381–8. PMID 12651630.
  • Proust A, Da Costa L, Rince P; et al. (2003). “Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene”. Hematol. J. 4 (2): 132–6. doi:10.1038/sj.thj.6200230. PMID 12750732.