SP110 nuclear body protein is a protein that in humans is encoded by the SP110gene.[1][2][3]
The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified.[3]
References
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↑Welsh GI, Kadereit S, Coccia EM, Hovanessian AG, Meurs EF (Aug 1999). "Colocalization within the nucleolus of two highly related IFN-induced human nuclear phosphoproteins with nucleolin". Exp Cell Res. 250 (1): 62–74. doi:10.1006/excr.1999.4505. PMID10388521.
Izmailova E, Bertley FM, Huang Q, et al. (2003). "HIV-1 Tat reprograms immature dendritic cells to express chemoattractants for activated T cells and macrophages". Nat. Med. 9 (2): 191–7. doi:10.1038/nm822. PMID12539042.
Roscioli T, Cliffe ST, Bloch DB, et al. (2006). "Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease". Nat. Genet. 38 (6): 620–2. doi:10.1038/ng1780. PMID16648851.
Warren EH, Vigneron NJ, Gavin MA, et al. (2006). "An antigen produced by splicing of noncontiguous peptides in the reverse order". Science. 313 (5792): 1444–7. doi:10.1126/science.1130660. PMID16960008.
Szeszko JS, Healy B, Stevens H, et al. (2007). "Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis". Hum. Genet. 121 (2): 155–60. doi:10.1007/s00439-006-0293-z. PMID17149599.
Babb C, Keet EH, van Helden PD, Hoal EG (2007). "SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population". Hum. Genet. 121 (3–4): 521–2. doi:10.1007/s00439-007-0335-1. PMID17287948.
Cliffe ST, Wong M, Taylor PJ, et al. (2007). "The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110". Prenat. Diagn. 27 (7): 674–6. doi:10.1002/pd.1759. PMID17510920.
