IPR1 Antibody – Mouse Monoclonal

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]

SP110: Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE). Defects in SP110 are the cause of hepatic venoocclusive disease with immunodeficiency (VODI). VODI is an 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. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 2q37.1

Cellular Component: nucleolus; nucleus

Molecular Function: signal transducer activity; DNA binding; zinc ion binding; chromatin binding

Biological Process: chromatin remodeling; transcription, DNA-dependent; viral reproduction; regulation of transcription, DNA-dependent; signal transduction

Disease: Mycobacterium Tuberculosis, Susceptibility To; Hepatic Venoocclusive Disease With Immunodeficiency