40S ribosomal protein S19

RPS19
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4UG0, 4V6X, 5A2Q, 5AJ0, 5FLX, 3J7R, 4D61, 4D5L, 4UJD, 3J7P, 4UJE, 4UJC
Identifiers
Aliases	RPS19, DBA, DBA1, S19, Ribosomal protein S19, eS19, LOH19CR1
External IDs	OMIM: 603474; MGI: 1333780; HomoloGene: 37416; GeneCards: RPS19; OMA:RPS19 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.2 Start 41,860,255 bp End 41,872,925 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 A3 Start 24,884,371 bp End 24,889,806 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh skin of hip right uterine tube granulocyte human penis gingival epithelium embryo vulva nipple skin of abdomen Top expressed in blastocyst ventricular zone embryo embryo ganglionic eminence uterus morula lip bone marrow neural tube More reference expression data BioGPS n/a
Gene ontology Molecular function protein kinase binding protein homodimerization activity fibroblast growth factor binding structural constituent of ribosome protein binding RNA binding Cellular component extracellular exosome ribosome nucleolus cytoplasm nucleus membrane focal adhesion intracellular anatomical structure cytosolic small ribosomal subunit cytosol extracellular matrix nucleoplasm postsynaptic density synapse Biological process Notch signaling pathway SRP-dependent cotranslational protein targeting to membrane negative regulation of respiratory burst involved in inflammatory response viral transcription monocyte chemotaxis nuclear-transcribed mRNA catabolic process, nonsense-mediated decay ribosomal small subunit assembly response to extracellular stimulus positive regulation of respiratory burst involved in inflammatory response nucleolus organization protein tetramerization maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) translational initiation erythrocyte differentiation maturation of SSU-rRNA ribosomal small subunit biogenesis protein biosynthesis rRNA processing antimicrobial humoral immune response mediated by antimicrobial peptide Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6223 20085 Ensembl ENSG00000105372 ENSMUSG00000040952 UniProt P39019 Q9CZX8 RefSeq (mRNA) NM_001022 NM_001321483 NM_001321484 NM_001321485 NM_023133 RefSeq (protein) NP_001013 NP_001308412 NP_001308413 NP_001308414 NP_075622 NP_001347044 NP_001347045 NP_001347047 NP_001347048 NP_001347054 NP_001347057 Location (UCSC) Chr 19: 41.86 – 41.87 Mb Chr 7: 24.88 – 24.89 Mb PubMed search
Wikidata
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40S ribosomal protein S19 is a protein that in humans is encoded by the RPS19 gene.

Function

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. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Clinical significance

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.

Interactions

Ribosomal protein S19 has been shown to interact with basic fibroblast growth factor. RPS19 is also secreted extracellularly and its extracellular oligomers (crosslinked by the transglutaminase Coagulation factor XIII) is also known to bind and probably inhibit Macrophage migration inhibitory factor; though S19 oligomers themselves share MCIP's function as another very strong macrophage chemoattractant and bind to anaphylotoxin C5 receptor

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.
• 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, Musolyamov AK, Egorov TA, Thiede B, Wittmann-Liebold B, Otto A (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. doi:10.1111/j.1432-1033.1996.0144u.x. PMID 8706699.
• Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N (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, Ball S, Niemeyer C, Ramenghi U, Orfali K, Gustavsson P, Garelli E, Brusco A, Tiemann C, Pérignon JL, Bouchier C, Cicchiello L, Dahl N, Mohandas N, Tchernia G (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, Gustavsson P, Carlsson B, Bowers D, de Bont E, Dahl N (2000). "Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia". Hum. Genet. 105 (5): 496–500. doi:10.1007/s004390051136. PMID 10598818.
• Tentler D, Gustavsson P, Elinder G, Eklöf O, Gordon L, Mandel A, Dahl N (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. doi:10.1136/jmg.37.2.128. PMC 1734524. PMID 10662814.
• Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, Strippoli P, Izzi GC, Brandalise S, Riccardi R, Dianzani I (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, Shibuya Y, Hiraoka T, Tanase S, Yamamoto T (2001). "Apoptotic cells of an epithelial cell line, AsPC-1, release monocyte chemotactic S19 ribosomal protein dimer". J. Biochem. 129 (3): 445–54. doi:10.1093/oxfordjournals.jbchem.a002876. PMID 11226885.
• Soulet F, Al Saati T, Roga S, Amalric F, Bouche G (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, Nishimura T, Nishino N, Okabe H, Takagi K, Yamamoto T (2001). "Identification of Receptor-Binding Sites of Monocyte Chemotactic S19 Ribosomal Protein Dimer". Am. J. Pathol. 159 (6): 2293–301. doi:10.1016/S0002-9440(10)63079-9. PMC 1850605. PMID 11733378.
• Li B, Sun M, He B, Yu J, Zhang YD, Zhang YL (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.
• Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis JA, Fixler J, Mohandas N (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, Nishiura H, Tanaka Y, Nishino N, Shibuya Y, Yamamoto T (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. doi:10.1016/S0002-9440(10)63934-X. PMC 1851224. PMID 12651630.
• Proust A, Da Costa L, Rince P, Landois A, Tamary H, Zaizov R, Tchernia G, Delaunay J (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.

External links

• GeneReviews/NCBI/NIH/UW entry on Diamond–Blackfan Anemia
• OMIM entries on Diamond–Blackfan Anemia