Reviewed February 2012
What is the official name of the RPS19 gene?
The official name of this gene is “ribosomal protein S19.”
RPS19 is the gene's official symbol. The RPS19 gene is also known by other names, listed below.
What is the normal function of the RPS19 gene?
The RPS19 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.
Each ribosome is made up of two parts (subunits) called the large and small subunits. The protein produced from the RPS19 gene is among those found in the small subunit.
The specific functions of the RPS19 protein and the other ribosomal proteins within these subunits are unclear. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis).
Does the RPS19 gene share characteristics with other genes?
The RPS19 gene belongs to a family of genes called RPS (S ribosomal proteins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the RPS19 gene related to health conditions?
- Diamond-Blackfan anemia - caused by mutations in the RPS19 gene
More than 120 RPS19 gene mutations have been identified in individuals with Diamond-Blackfan anemia. These mutations are believed to affect the stability or function of the RPS19 protein. Studies indicate that a shortage of functioning ribosomal proteins may increase the self-destruction of blood-forming cells in the bone marrow, resulting in a low number of red blood cells (anemia). Abnormal regulation of cell division or inappropriate triggering of apoptosis may contribute to the other health problems and unusual physical features that affect some people with Diamond-Blackfan anemia.
Where is the RPS19 gene located?
Cytogenetic Location: 19q13.2
Molecular Location on chromosome 19: base pairs 41,859,917 to 41,871,415
The RPS19 gene is located on the long (q) arm of chromosome 19 at position 13.2.
More precisely, the RPS19 gene is located from base pair 41,859,917 to base pair 41,871,415 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about RPS19?
You and your healthcare professional may find the following resources about RPS19 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((RPS19%5BTIAB%5D)%20OR%20(ribosomal%20protein%20S19%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/603474)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_RPS19.html)
- Diamond-Blackfan Anemia Mutation Database (http://www.dbagenes.unito.it/home.php?select_db=RPS19)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6223)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=10402)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6223)
What other names do people use for the RPS19 gene or gene products?
- 40S ribosomal protein S19
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding RPS19?
bone marrow ;
cell division ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Angelini M, Cannata S, Mercaldo V, Gibello L, Santoro C, Dianzani I, Loreni F. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. Hum Mol Genet. 2007 Jul 15;16(14):1720-7. Epub 2007 May 20. (http://www.ncbi.nlm.nih.gov/pubmed/17517689?dopt=Abstract)
- Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N. Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. Biochim Biophys Acta. 2009 Oct;1792(10):1036-42. doi: 10.1016/j.bbadis.2009.08.002. Epub 2009 Aug 16. (http://www.ncbi.nlm.nih.gov/pubmed/19689926?dopt=Abstract)
- Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383. (http://www.ncbi.nlm.nih.gov/pubmed/20960466?dopt=Abstract)
- Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18412286?dopt=Abstract)
- Ellis SR, Gleizes PE. Diamond Blackfan anemia: ribosomal proteins going rogue. Semin Hematol. 2011 Apr;48(2):89-96. doi: 10.1053/j.seminhematol.2011.02.005. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21435505?dopt=Abstract)
- Farrar JE, Dahl N. Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. Semin Hematol. 2011 Apr;48(2):124-35. doi: 10.1053/j.seminhematol.2011.02.003. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21435509?dopt=Abstract)
- Gregory LA, Aguissa-Touré AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S. Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. Nucleic Acids Res. 2007;35(17):5913-21. Epub 2007 Aug 28. (http://www.ncbi.nlm.nih.gov/pubmed/17726054?dopt=Abstract)
- Ito E, Konno Y, Toki T, Terui K. Molecular pathogenesis in Diamond-Blackfan anemia. Int J Hematol. 2010 Oct;92(3):413-8. doi: 10.1007/s12185-010-0693-7. Epub 2010 Sep 30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20882441?dopt=Abstract)
- Kuramitsu M, Hamaguchi I, Takuo M, Masumi A, Momose H, Takizawa K, Mochizuki M, Naito S, Yamaguchi K. Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells. Br J Haematol. 2008 Feb;140(3):348-59. doi: 10.1111/j.1365-2141.2007.06930.x. (http://www.ncbi.nlm.nih.gov/pubmed/18217898?dopt=Abstract)
- Morimoto K, Lin S, Sakamoto K. The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review. Mol Genet Metab. 2007 Apr;90(4):358-62. Epub 2006 Dec 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17178250?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6223)
- OMIM: RIBOSOMAL PROTEIN S19 (http://omim.org/entry/603474)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.