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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. This protein likely helps regulate the activity of genes that are 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 are different sizes and 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. Certain variants in the SP110 gene cause cells to produce a version of the SP110 nuclear body protein that doesn’t function properly. In some cases, the protein may not function at all. Without enough functional protein, the immune system cannot effectively fight off foreign invaders, which allows recurrent and persistent infections to develop.
It is unclear how the loss of SP110 nuclear body protein disrupts blood flow in the liver. A lack of functional protein may cause liver disease, or the liver problems may be caused by unregulated apoptosis or recurrent infections.
More About This Health ConditionOther Names for This Gene
- nuclear body protein SP110
- SP110_HUMAN
- transcriptional coactivator Sp110
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- 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
- Fraschilla I, Jeffrey KL. The Speckled Protein (SP) Family: Immunity's Chromatin Readers. Trends Immunol. 2020 Jul;41(7):572-585. doi: 10.1016/j.it.2020.04.007. Epub 2020 May 5. 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
- 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
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