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Genetics Home Reference: your guide to understanding genetic conditions
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RPL11

Reviewed February 2012

What is the official name of the RPL11 gene?

The official name of this gene is “ribosomal protein L11.”

RPL11 is the gene's official symbol. The RPL11 gene is also known by other names, listed below.

What is the normal function of the RPL11 gene?

The RPL11 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 RPL11 gene is among those found in the large subunit.

The specific functions of the RPL11 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 RPL11 gene share characteristics with other genes?

The RPL11 gene belongs to a family of genes called RPL (L 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 RPL11 gene related to health conditions?

Diamond-Blackfan anemia - caused by mutations in the RPL11 gene

More than 25 RPL11 gene mutations have been identified in individuals with Diamond-Blackfan anemia. These mutations are believed to affect the stability or function of the RPL11 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 RPL11 gene located?

Cytogenetic Location: 1p36.1-p35

Molecular Location on chromosome 1: base pairs 23,691,778 to 23,696,424

The RPL11 gene is located on the short (p) arm of chromosome 1 between positions 36.1 and 35.

The RPL11 gene is located on the short (p) arm of chromosome 1 between positions 36.1 and 35.

More precisely, the RPL11 gene is located from base pair 23,691,778 to base pair 23,696,424 on chromosome 1.

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 RPL11?

You and your healthcare professional may find the following resources about RPL11 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the RPL11 gene or gene products?

  • cell growth-inhibiting protein 34
  • CLL-associated antigen KW-12
  • DBA7
  • GIG34
  • L11
  • 60S ribosomal protein L11
  • RL11_HUMAN

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 RPL11?

anemia ; apoptosis ; bone marrow ; cell ; cell division ; gene ; protein ; ribosomes ; subunit

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat. 2009 Mar;30(3):321-7. doi: 10.1002/humu.20874. (http://www.ncbi.nlm.nih.gov/pubmed/19191325?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/6135)
  • Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica. 2010 Feb;95(2):206-13. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22. (http://www.ncbi.nlm.nih.gov/pubmed/19773262?dopt=Abstract)
  • OMIM: RIBOSOMAL PROTEIN L11 (http://omim.org/entry/604175)

 

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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2012
Published: September 15, 2014