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Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).
Gene References into Functions
TNF-alpha -308G>A (rs1800629) showed no association with susceptibility to pulmonary tuberculosis and spinal tuberculosis patients in southern China. PMID: 29430075
SP110 polymorphism is associated with tuberculosis. PMID: 27623071
Data suggest that Sp110 is sumoylated, de-sumoylated, and then released from the promyelocytic leukemia nuclear bodies in hepatocytes infected with HBV (hepatitis B virus); Sp110 differentially regulates several direct target genes of HBx, a viral co-factor; these mechanisms may be involved in evasion of host immune response by HBV. (Sp110 = Speckled 110 kDa; HBx = hepatitis B virus protein X) PMID: 29046350
Using mouse models and genetic characteristics of human patients the role of SP110b was studied to determine its role in controlling host immunity and susceptibility to TB by modulating nuclear factor-kappaB (NF-kappaB) activity resulting in down regulation of TNF-alpha production and upregulation of NF-kappaB-induced antipoptotic gene expression suppressing IFN-gamma-mediated monocyte and/or macrophage cell death. PMID: 27858493
The results indicated that both the heterozygous genotype GC and homozygous genotype CC in rs3809849 in MYBBP1A had significant effects on the risk of pulmonary tuberculosis, and heterozygous genotype CT in rs9061 in SP110 also had similar effects. PMID: 25612917
Results show that SP110 variants were associated with increased susceptibility to both pulmonary and extra-pulmonary tuberculosis in the Vietnamese patients. Those variants may influence macrophage signaling responses and apoptosis during the infection. PMID: 25006821
Study suggests that a combination of SP110 and MYBBP1A gene polymorphisms may serve as a novel marker for identifying the risk of developing TB in the Chinese Han population. PMID: 23129390
Several SNPs in Sp110 are risk factors for susceptibility to tuberculosis in Chongqing Han People. PMID: 21033425
In a pooled analysis of 10,624 cases of tuberculosis, there was not a significant association between polymorphisms in the SP110 gene and disease susceptibility. [Meta-analysis] PMID: 22691368
Genotyped 20 SNPs located in the SP110 gene, for the first time in a South East Asian cohort from Indonesia.Our study did not reveal any statistically significant associations between SP110 SNPs and pulmonary TB. PMID: 22522001
a range of mutations in SP110 that cause decreased SP110 protein levels and impaired late B-cell differentiation cause veno-occlusive disease with immunodeficiency syndrome. PMID: 22621957
the results might indicate a role of SP110 variants in extrapulmonary tuberculosis rather than PTB. PMID: 21536091
This study demonstrates that genotypes and haplotypes of SP110 might be associated with susceptibility to tuberculosis in Chinese population. PMID: 21397050
identification of two proteins: the human remodeling and spacing factor 1 (RSF1) and the activating transcription factor 7 interacting protein (ATF7IP) that interact with human SP110 during the process of viral infections PMID: 21222611
data suggest that Sp110b is a transcriptional cofactor negatively regulating retinoic acid receptor alpha-mediated transcription PMID: 14559998
Sp110b is a component of the cellular machinery that Epstein-Barr virus utilizes to enhance lytic EBV replication PMID: 15308735
reports the involvement of a Sp110 nuclear body protein in a human primary immunodeficiency and high-penetrance genetic mutations in hepatic veno-occlusive disease PMID: 16648851
identified three polymorphisms that are associated with disease PMID: 16803959
Hypothesis that Sp110 variants and haplotypes might be associated with distinct phenotypes of human M tuberculosis infection is doubtful. PMID: 16816019
description of a minor histocompatibility antigen created by a polymorphism in the SP110 gene; the antigenic peptide comprises 2 noncontiguous SP110 peptide segments spliced together in reverse order to that in which they occur in predicted SP110 protein PMID: 16960008
common polymorphisms of the SP110 gene have no major effect on susceptibility to tuberculosis in the Russian population PMID: 17149599
Our finding suggests that genetic variations in the CYP19A1 gene are significantly associated with BMD at different skeletal sites in adult men, but not in women. PMID: 17287948
familial hepatic veno-occlusive disease with immunodeficiency due to a homozygous truncating mutation in exon 5; SP110 c.642delC PMID: 17510920
Sp110 expression is required for Anaplasma phagocytophilum infection and multiplication in human promyelocytic cells. A.phagocytophilum may modulate Sp110 mRNA levels to facilitate establishment of infection of human HL-60 cells. PMID: 17883869
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Involvement in disease
Hepatic venoocclusive disease with immunodeficiency (VODI)
Subcellular Location
Nucleus. Note=Found in the nuclear body.
Tissue Specificity
Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.