Reviewed February 2012
What is the official name of the RPS17 gene?
The official name of this gene is “ribosomal protein S17.”
RPS17 is the gene's official symbol. The RPS17 gene is also known by other names, listed below.
What is the normal function of the RPS17 gene?
The RPS17 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 RPS17 gene is among those found in the small subunit.
The specific functions of the RPS17 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 RPS17 gene share characteristics with other genes?
The RPS17 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 RPS17 gene related to health conditions?
- Diamond-Blackfan anemia - caused by mutations in the RPS17 gene
At least three RPS17 gene mutations have been identified in individuals with Diamond-Blackfan anemia. These mutations are believed to affect the stability or function of the RPS17 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 RPS17 gene located?
Cytogenetic Location: 15q
Molecular Location on chromosome 15: base pairs 82,536,749 to 82,540,543
The RPS17 gene is located on the long (q) arm of chromosome 15.
More precisely, the RPS17 gene is located from base pair 82,536,749 to base pair 82,540,543 on chromosome 15.
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 RPS17?
You and your healthcare professional may find the following resources about RPS17 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=%28%28RPS17%5BTIAB%5D%29%20OR%20%28ribosomal%20protein%20S17%5BTIAB%5D%29%29%20OR%20%28%28DBA4%5BTIAB%5D%29%20OR%20%2840S%20ribosomal%20protein%20S17%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/180472)
Research Resources - Tools for researchers
- Diamond-Blackfan Anemia Mutation Database (http://www.dbagenes.unito.it/home.php?select_db=RPS17)
- HGNC Gene Family: S ribosomal proteins (http://www.genenames.org/genefamilies/RPS)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=10397)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6218)
What other names do people use for the RPS17 gene or gene products?
- 40S ribosomal protein S17
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 RPS17?
bone marrow ;
cell division ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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)
- Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat. 2007 Dec;28(12):1178-82. (http://www.ncbi.nlm.nih.gov/pubmed/17647292?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)
- Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004. (http://www.ncbi.nlm.nih.gov/pubmed/19061985?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)
- Lipton JM, Ellis SR. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. doi: 10.1016/j.hoc.2009.01.004. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19327583?dopt=Abstract)
- Narla A, Hurst SN, Ebert BL. Ribosome defects in disorders of erythropoiesis. Int J Hematol. 2011 Feb;93(2):144-9. doi: 10.1007/s12185-011-0776-0. Epub 2011 Feb 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21279816?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6218)
- OMIM: RIBOSOMAL PROTEIN S17 (http://omim.org/entry/180472)
- Song MJ, Yoo EH, Lee KO, Kim GN, Kim HJ, Kim SY, Kim SH. A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia. Pediatr Blood Cancer. 2010 Apr;54(4):629-31. doi: 10.1002/pbc.22316. (http://www.ncbi.nlm.nih.gov/pubmed/19953637?dopt=Abstract)
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.