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SP110 gene

SP110 nuclear body protein
From Genetics Home Reference. Learn more

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).

Health Conditions Related to Genetic Changes

Hepatic veno-occlusive disease with immunodeficiency

At least five mutations in the SP110 gene have been found to cause hepatic veno-occlusive disease with immunodeficiency (VODI). Each of these mutations leads to the production of a nonfunctional version of 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 disease is a contagious bacterial infection. At least one study has found that certain variations in the SP110 gene may influence the risk of infection with the bacteria that cause pulmonary tuberculosis. However, several other studies have not found such an association. SP110 variations are probably not a major genetic risk factor for this disease.

Other Names for This Gene

  • FLJ22835
  • IFI41
  • IFI75
  • interferon-induced protein 41, 30kD
  • interferon-induced protein 41/75
  • interferon-induced protein 75, 52kD
  • IPR1
  • nuclear body protein SP110
  • phosphoprotein 41
  • phosphoprotein 75
  • SP110_HUMAN
  • speckeled, 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

Research Resources

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. 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. Citation on PubMed or Free article on PubMed Central
  • 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. 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. Epub 2006 Dec 6. Citation on PubMed
  • Thye T, Browne EN, Chinbuah MA, Gyapong J, Osei I, Owusu-Dabo E, Niemann S, RĂ¼sch-Gerdes S, Horstmann RD, Meyer CG. No associations of human pulmonary tuberculosis with Sp110 variants. J Med Genet. 2006 Jul;43(7):e32. 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. Citation on PubMed or Free article on PubMed Central
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