SP110
Function
Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).
Involvement in disease
Hepatic venoocclusive disease with immunodeficiency
VODI
Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated (isoform 2).
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.
Cellular localization
- Nucleus
- Found in the nuclear body.
Alternative names
Sp110 nuclear body protein, Interferon-induced protein 41/75, Speckled 110 kDa, Transcriptional coactivator Sp110, SP110