SP110 Nuclear Body Protein
Transcriptional coactivator and nuclear body component involved in innate immunity and apoptosis
Gene Information Card
| Symbol | SP110 |
|---|---|
| Full Name | SP110 nuclear body protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 8031 ncbi.nlm.nih.gov/gene/8031 |
| Ensembl ID | ENSG00000135899 |
| UniProt ID | Q9HB58 |
| OMIM ID | 604457 |
| HGNC ID | 11254 |
| Aliases | IFRD1, VODI, FLJ22940, MGC117188 |
Description
The SP110 gene encodes a nuclear body protein that functions as a transcriptional coactivator. It is involved in the regulation of gene expression in response to interferon-gamma and plays a role in innate immunity, apoptosis, and cell differentiation. Mutations in SP110 are associated with hepatic veno-occlusive disease with immunodeficiency (VODI).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatic veno-occlusive disease with immunodeficiency (VODI) | Loss-of-function mutations in SP110 impair nuclear body function and transcriptional regulation, leading to defective immune response and sinusoidal endothelial injury in the liver. | OMIM #235550; ClinVar |
| Primary immunodeficiency | SP110 mutations disrupt interferon signaling and lymphocyte development, causing combined immunodeficiency. | OMIM #604457; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Spleen | 8.7 | Medium |
| Lung | 6.5 | Low |
| Lymph node | 9.1 | Medium |
| Bone marrow | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| K562 | 6.8 | Chronic myelogenous leukemia |
| HeLa | 5.3 | Cervical adenocarcinoma |
| Jurkat | 8.9 | T-cell leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.642_643delAG | Frameshift | Rare | Loss of function; associated with VODI |
| c.1034C>T (p.Thr345Met) | Missense | <0.01% | Reduced protein stability; reported in immunodeficiency |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of translation; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent protein, impairing nuclear body formation and transcriptional coactivation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003713 (GO:0003713) | • GO:0005634 (GO:0005634) |
| • GO:0006355 (GO:0006355) | • GO:0006915 (GO:0006915) |
| • GO:0042802 (GO:0042802) | • GO:0045087 (GO:0045087) |
Pathways
• Interferon-gamma signaling (Reactome R-HSA-877300)
• Apoptosis (KEGG hsa04210)
Protein Summary
SP110 is a nuclear body protein of 729 amino acids (UniProt Q9HB58) that contains a SP100-like domain and a bromodomain. It acts as a transcriptional coactivator, interacting with nuclear receptors and transcription factors to regulate genes involved in immune response and cell death. The protein localizes to nuclear bodies and is induced by interferon-gamma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SP110 Knockout HEK293 Cell Line | EDJ-KQ4967 | Human | 3431 | Details Get a Quote |
| SP110 Knockout A-549 Cell Line | EDJ-KQ27847 | Human | 3431 | Details Get a Quote |
| SP110 Knockout HCT 116 Cell Line | EDJ-KQ27848 | Human | 3431 | Details Get a Quote |
| SP110 Knockout HeLa Cell Line | EDJ-KQ27849 | Human | 3431 | Details Get a Quote |
