| This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene, one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011],disease:This antigen is recognized by autoantibodies from patients with primary biliary cirrhosis (PBC).,domain:Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.,domain:The HSR domain is important for the nuclear body targeting as well as for the dimerization.,function:May play a role in the control of gene expression.,induction:By interferon.,miscellaneous:The major isoform Sp100-A, has a calculated MW of 54 kDa, but exhibits aberrant electrophoretic mobilities, with an apparent MW OF 100 kDa.,PTM:Phosphorylated.,PTM:Sumoylated. Sumoylation depends on a functional nuclear localization signal but is not necessary for nuclear import or nuclear body targeting.,similarity:Contains 1 HSR domain.,similarity:Contains 1 SAND domain.,similarity:Contains 2 HMG box DNA-binding domains.,subcellular location:Found in the nuclear body, also known as nuclear domain 10 (ND10), PML oncogenic domain (POD), nuclear dots (ND) and KR body. The nuclear body is a nucleoplasmic structure of punctate shape, which varies in size and number. Induction by interferon and may be cell cycle stages modulate the subnuclear localization of the isoforms.,subunit:Homodimer. Splice variants heterodimerize. Interacts with members of the HP1 family of nonhistone chromosomal protein, such as CBX5 and CBX3 via the PxVxL motif. Interacts with Epstein-Barr virus EBNA-LP.,tissue specificity:Widely expressed. Sp100-B is expressed only in spleen, tonsil, thymus, mature B-cell line and some T-cell line, but not in brain, liver, muscle or non-lymphoid cell lines., |
