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RPS14 gene

ribosomal protein S14
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Normal Function

The RPS14 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 RPS14 gene is among those found in the small subunit.

The specific functions of the RPS14 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).

Health Conditions Related to Genetic Changes

5q minus syndrome

The RPS14 gene is involved in a condition called 5q minus (5q-) syndrome. This condition is a type of bone marrow disorder called myelodysplastic syndrome (MDS), in which immature blood cells fail to develop normally. Individuals with 5q- syndrome often have a shortage of red blood cells (anemia) and abnormalities in blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. Affected individuals also have an increased risk of developing a fast-growing blood cancer known as acute myeloid leukemia (AML).

5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. This deletion occurs in immature blood cells during a person's lifetime and affects one copy of chromosome 5 in each cell. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). This region of DNA contains 40 genes, including RPS14. Loss of one copy of the RPS14 gene reduces the amount of RPS14 protein that is made. Studies indicate that a shortage of functioning ribosomal proteins increases the self-destruction of blood-forming cells in the bone marrow, resulting in anemia. Research suggests that the other features of the condition are associated with other genes in the deleted segment of DNA.

More About This Health Condition

Other Names for This Gene

  • 40S ribosomal protein S14
  • emetine resistance
  • EMTB
  • S14

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Boultwood J, Fidler C, Strickson AJ, Watkins F, Gama S, Kearney L, Tosi S, Kasprzyk A, Cheng JF, Jaju RJ, Wainscoat JS. Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. Blood. 2002 Jun 15;99(12):4638-41. Citation on PubMed
  • Dutt S, Narla A, Lin K, Mullally A, Abayasekara N, Megerdichian C, Wilson FH, Currie T, Khanna-Gupta A, Berliner N, Kutok JL, Ebert BL. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood. 2011 Mar 3;117(9):2567-76. doi: 10.1182/blood-2010-07-295238. Epub 2010 Nov 10. Citation on PubMed or Free article on PubMed Central
  • Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature. 2008 Jan 17;451(7176):335-9. doi: 10.1038/nature06494. Citation on PubMed or Free article on PubMed Central
  • Giagounidis A, Mufti GJ, Fenaux P, Germing U, List A, MacBeth KJ. Lenalidomide as a disease-modifying agent in patients with del(5q) myelodysplastic syndromes: linking mechanism of action to clinical outcomes. Ann Hematol. 2014 Jan;93(1):1-11. doi: 10.1007/s00277-013-1863-5. Epub 2013 Sep 10. Review. Citation on PubMed or Free article on PubMed Central
  • Komrokji RS, Padron E, Ebert BL, List AF. Deletion 5q MDS: molecular and therapeutic implications. Best Pract Res Clin Haematol. 2013 Dec;26(4):365-75. doi: 10.1016/j.beha.2013.10.013. Epub 2013 Oct 16. Review. Citation on PubMed
  • Kumar MS, Narla A, Nonami A, Mullally A, Dimitrova N, Ball B, McAuley JR, Poveromo L, Kutok JL, Galili N, Raza A, Attar E, Gilliland DG, Jacks T, Ebert BL. Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. Blood. 2011 Oct 27;118(17):4666-73. doi: 10.1182/blood-2010-12-324715. Epub 2011 Aug 26. Citation on PubMed or Free article on PubMed Central
  • Pellagatti A, Hellstr√∂m-Lindberg E, Giagounidis A, Perry J, Malcovati L, Della Porta MG, J√§dersten M, Killick S, Fidler C, Cazzola M, Wainscoat JS, Boultwood J. Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes. Br J Haematol. 2008 Jul;142(1):57-64. doi: 10.1111/j.1365-2141.2008.07178.x. Epub 2008 May 8. Erratum in: Br J Haematol. 2009 Feb;144(3):455. Citation on PubMed or Free article on PubMed Central
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