SP110

SP110 nuclear body protein is a protein that in humans is encoded by the SP110 gene.

SP110
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1UFN
Identifiers
Aliases	SP110, IFI41, IFI75, IPR1, VODI, SP110 nuclear body protein
External IDs	OMIM: 604457; MGI: 3783243; HomoloGene: 82192; GeneCards: SP110; OMA:SP110 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q37.1 Start 230,165,186 bp End 230,225,729 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte blood lymph node spleen granulocyte appendix tendon of biceps brachii buccal mucosa cell sural nerve bone marrow cells n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signal transducer activity metal ion binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process regulation of transcription, DNA-templated transcription, DNA-templated viral process signal transduction regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3431 101056250 Ensembl ENSG00000135899 n/a UniProt Q9HB58 n/a RefSeq (mRNA) NM_001185015 NM_004509 NM_004510 NM_080424 NM_001378442 NM_001378443 NM_001378444 NM_001378445 NM_001378446 NM_001378447 n/a RefSeq (protein) NP_001171944 NP_004500 NP_004501 NP_536349 NP_001365371 NP_001365372 NP_001365373 NP_001365374 NP_001365375 NP_001365376 n/a Location (UCSC) Chr 2: 230.17 – 230.23 Mb n/a PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

External links

• GeneReviews/NCBI/NIH/UW entry on Hepatic Veno-Occlusive Disease with Immunodeficiency

Further reading

• Bloch DB, Nakajima A, Gulick T, et al. (2000). "Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator". Mol. Cell. Biol. 20 (16): 6138–46. doi:10.1128/MCB.20.16.6138-6146.2000. PMC 86089. PMID 10913195.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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. PMID 12539042. S2CID 26145639.
• Watashi K, Hijikata M, Tagawa A, et al. (2003). "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. 23 (21): 7498–509. doi:10.1128/MCB.23.21.7498-7509.2003. PMC 207568. PMID 14559998.
• Nicewonger J, Suck G, Bloch D, Swaminathan S (2004). "Epstein-Barr virus (EBV) SM protein induces and recruits cellular Sp110b to stabilize mRNAs and enhance EBV lytic gene expression". J. Virol. 78 (17): 9412–22. doi:10.1128/JVI.78.17.9412-9422.2004. PMC 506926. PMID 15308735.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• 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" (PDF). Nat. Genet. 38 (6): 620–2. doi:10.1038/ng1780. PMID 16648851. S2CID 1466106.
• Tosh K, Campbell SJ, Fielding K, et al. (2006). "Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa". Proc. Natl. Acad. Sci. U.S.A. 103 (27): 10364–8. Bibcode:2006PNAS..10310364T. doi:10.1073/pnas.0603340103. PMC 1502463. PMID 16803959.
• Thye T, Browne EN, Chinbuah MA, et al. (2006). "No associations of human pulmonary tuberculosis with Sp110 variants". J. Med. Genet. 43 (7): e32. doi:10.1136/jmg.2005.037960. PMC 2564561. PMID 16816019.
• 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. Bibcode:2006Sci...313.1444W. doi:10.1126/science.1130660. PMID 16960008. S2CID 21808343.
• 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. PMID 17149599. S2CID 29689947.
• 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. PMID 17287948. S2CID 13429697.
• 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. PMID 17510920. S2CID 44723860.
• de la Fuente J, Manzano-Roman R, Blouin EF, et al. (2007). "Sp110 transcription is induced and required by Anaplasma phagocytophilum for infection of human promyelocytic cells". BMC Infect. Dis. 7: 110. doi:10.1186/1471-2334-7-110. PMC 2039740. PMID 17883869.