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Genetics Home Reference: your guide to understanding genetic conditions
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RPS7

Reviewed February 2012

What is the official name of the RPS7 gene?

The official name of this gene is “ribosomal protein S7.”

RPS7 is the gene's official symbol. The RPS7 gene is also known by other names, listed below.

What is the normal function of the RPS7 gene?

The RPS7 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 RPS7 gene is among those found in the small subunit.

The specific functions of the RPS7 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 RPS7 gene share characteristics with other genes?

The RPS7 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 RPS7 gene related to health conditions?

Diamond-Blackfan anemia - caused by mutations in the RPS7 gene

An RPS7 gene mutation has been identified in at least one family affected by Diamond-Blackfan anemia. This mutation changes a single DNA building block (nucleotide) in a region of the gene called intron 3, and is written as IVS3DS+1G>A. The mutation is believed to affect the stability or function of the RPS7 protein and may impair the assembly of ribosomes, but the specific effects of the mutation are not known. 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 RPS7 gene located?

Cytogenetic Location: 2p25

Molecular Location on chromosome 2: base pairs 3,575,262 to 3,580,918

The RPS7 gene is located on the short (p) arm of chromosome 2 at position 25.

The RPS7 gene is located on the short (p) arm of chromosome 2 at position 25.

More precisely, the RPS7 gene is located from base pair 3,575,262 to base pair 3,580,918 on chromosome 2.

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 RPS7?

You and your healthcare professional may find the following resources about RPS7 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 RPS7 gene or gene products?

  • DBA8
  • 40S ribosomal protein S7
  • RS7_HUMAN
  • S7

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 RPS7?

anemia ; apoptosis ; bone marrow ; cell ; cell division ; DNA ; gene ; intron ; mutation ; nucleotide ; 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)
  • Chen D, Zhang Z, Li M, Wang W, Li Y, Rayburn ER, Hill DL, Wang H, Zhang R. Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function. Oncogene. 2007 Aug 2;26(35):5029-37. Epub 2007 Feb 19. (http://www.ncbi.nlm.nih.gov/pubmed/17310983?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)
  • 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)
  • 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/6201)
  • OMIM: RIBOSOMAL PROTEIN S7 (http://omim.org/entry/603658)

 

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: July 14, 2014