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URL of this page: https://medlineplus.gov/genetics/gene/sp110/

SP110 gene

SP110 nuclear body protein

Normal Function

The SP110 gene provides instructions for making a protein called SP110 nuclear body protein, which is a component of cellular structures called nuclear bodies.  Nuclear bodies are located within the nuclei of cells, where they help control the activity of certain genes.  Nuclear bodies are also involved in the regulation of cell division, the self-destruction of cells that are damaged or no longer needed (apoptosis), and the normal function of the immune system.

SP110 nuclear body protein is active primarily in immune system cells called leukocytes and in the spleen.  It likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria).

Approximately seven slightly different versions (isoforms) of the SP110 nuclear body protein may be produced from this gene. These isoforms likely have distinct but similar functions.

Health Conditions Related to Genetic Changes

Hepatic veno-occlusive disease with immunodeficiency

Variants (also called mutations) in the SP110 gene have been found to cause hepatic veno-occlusive disease with immunodeficiency (VODI). This condition is characterized by recurrent infections and liver failure caused by blocked blood flow in the liver. The SP110 gene variants that cause VODI lead to the production of a nonfunctional version of the SP110 nuclear body protein. A lack of functional protein impairs the immune system's ability to fight off foreign invaders, allowing recurrent and persistent infections to develop. It is unclear how the loss of SP110 nuclear body protein disrupts blood flow in the liver, leading to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.

More About This Health Condition

Other disorders

Several common variations (polymorphisms) in the SP110 gene have been studied as risk factors for lung (pulmonary) tuberculosis. This potentially life-threatening disease is caused by Mycobacterium tuberculosis, a type of bacteria. Some studies have found that people who have SP100 gene variants have a higher risk of developing pulmonary tuberculosis; however, not all studies agree with these results. While research on SP110 gene variations and pulmonary tuberculosis risk is ongoing, it seems that the influence of SP100 gene variants may vary between populations. People with an increased risk of developing pulmonary tuberculosis may require treatment to restore immune function in order to resist infection and keep inactive (latent) infections suppressed.

Other Names for This Gene

  • IFI41
  • IFI75
  • IPR1
  • nuclear body protein SP110
  • SP110_HUMAN
  • speckled, 110-KD
  • transcriptional coactivator Sp110

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Babb C, Keet EH, van Helden PD, Hoal EG. SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population. Hum Genet. 2007 May;121(3-4):521-2. doi: 10.1007/s00439-007-0335-1. Epub 2007 Feb 8. Citation on PubMed
  • Bloch DB, Nakajima A, Gulick T, Chiche JD, Orth D, de La Monte SM, Bloch KD. Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. Mol Cell Biol. 2000 Aug;20(16):6138-46. doi: 10.1128/MCB.20.16.6138-6146.2000. Citation on PubMed or Free article on PubMed Central
  • Chang SY, Chen ML, Lee MR, Liang YC, Lu TP, Wang JY, Yan BS. SP110 Polymorphisms Are Genetic Markers for Vulnerability to Latent and Active Tuberculosis Infection in Taiwan. Dis Markers. 2018 Dec 5;2018:4687380. doi: 10.1155/2018/4687380. eCollection 2018. Citation on PubMed
  • Leu JS, Chang SY, Mu CY, Chen ML, Yan BS. Functional domains of SP110 that modulate its transcriptional regulatory function and cellular translocation. J Biomed Sci. 2018 Apr 11;25(1):34. doi: 10.1186/s12929-018-0434-4. Citation on PubMed
  • Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006 Jun;38(6):620-2. doi: 10.1038/ng1780. Epub 2006 Apr 30. Citation on PubMed
  • Szeszko JS, Healy B, Stevens H, Balabanova Y, Drobniewski F, Todd JA, Nejentsev S. Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis. Hum Genet. 2007 Apr;121(2):155-60. doi: 10.1007/s00439-006-0293-z. Epub 2006 Dec 6. Citation on PubMed
  • Thye T, Browne EN, Chinbuah MA, Gyapong J, Osei I, Owusu-Dabo E, Niemann S, Rusch-Gerdes S, Horstmann RD, Meyer CG. No associations of human pulmonary tuberculosis with Sp110 variants. J Med Genet. 2006 Jul;43(7):e32. doi: 10.1136/jmg.2005.037960. Citation on PubMed or Free article on PubMed Central
  • Tosh K, Campbell SJ, Fielding K, Sillah J, Bah B, Gustafson P, Manneh K, Lisse I, Sirugo G, Bennett S, Aaby P, McAdam KPWJ, Bah-Sow O, Lienhardt C, Kramnik I, Hill AVS. Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa. Proc Natl Acad Sci U S A. 2006 Jul 5;103(27):10364-10368. doi: 10.1073/pnas.0603340103. Epub 2006 Jun 27. Citation on PubMed or Free article on PubMed Central
  • Watashi K, Hijikata M, Tagawa A, Doi T, Marusawa H, Shimotohno K. Modulation of retinoid signaling by a cytoplasmic viral protein via sequestration of Sp110b, a potent transcriptional corepressor of retinoic acid receptor, from the nucleus. Mol Cell Biol. 2003 Nov;23(21):7498-509. doi: 10.1128/MCB.23.21.7498-7509.2003. Citation on PubMed or Free article on PubMed Central
  • Zhang S, Wang XB, Han YD, Wang C, Zhou Y, Zheng F. Certain Polymorphisms in SP110 Gene Confer Susceptibility to Tuberculosis: A Comprehensive Review and Updated Meta-Analysis. Yonsei Med J. 2017 Jan;58(1):165-173. doi: 10.3349/ymj.2017.58.1.165. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.