SP110 (SP110 nuclear body protein)
- symbol:
- SP110
- locus group:
- protein-coding gene
- location:
- 2q37.1
- gene_family:
- minor histocompatibility antigens
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 3431
- ensembl gene id:
- ENSG00000135899
- ucsc gene id:
- uc002vqg.5
- refseq accession:
- NM_080424
- hgnc_id:
- HGNC:5401
- approved reserved:
- 1996-12-19
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. [provided by RefSeq, Jul 2008]
核体是可以具有在基因转录的调节作用一多蛋白复合物。此基因是SP100 / SP140家族核体蛋白的成员，并进行编码的特定白细胞的核体的组成部分。该蛋白质可以作为基因转录的活化剂和可作为核激素受体共激活因子。此外，已经表明，该蛋白可能在核糖体合成和在髓样细胞分化的诱导中发挥作用。选择性剪接已经观察到这种基因和三个转录变异体，编码不同同种型，也已确定。 [由RefSeq的，2008年7月提供]
基因本体信息
SP110基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
SP110基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hepatic venoocclusive disease with immunodeficiency | 0.240271442 | 1 | 0 | BeFree_CTD_human_ORPHANET |
| Chronic Lymphocytic Leukemia | 0.124734064 | 5 | 1 | GAD_GWASCAT |
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) | 0.12 | 0 | 0 | CTD_human |
| Tuberculosis | 0.010987159 | 14 | 0 | BeFree_GAD_LHGDN |
| Hepatic Veno-Occlusive Disease | 0.005991584 | 3 | 0 | BeFree_LHGDN |
| Infection | 0.0054487 | 2 | 0 | LHGDN |
| Hepatitis C | 0.004734064 | 2 | 0 | GAD |
| Tuberculosis, Pulmonary | 0.003724241 | 6 | 0 | BeFree_GAD |
| Graft-vs-Host Disease | 0.002367032 | 1 | 0 | GAD |
| Immunologic Deficiency Syndromes | 0.000542884 | 2 | 0 | BeFree |
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