Aliases for SP140 Gene
External Ids for SP140 Gene
Previous GeneCards Identifiers for SP140 Gene
This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
GeneCards Summary for SP140 Gene
SP140 (SP140 Nuclear Body Protein) is a Protein Coding gene. Diseases associated with SP140 include Hepatic Venoocclusive Disease With Immunodeficiency and Primary Biliary Cirrhosis. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is SP140L.
UniProtKB/Swiss-Prot for SP140 Gene
Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails (PubMed:24267382).