Disease:Defects in XIAP are the cause of lymphoproliferative syndrome X-linked type 2 (XLP2) [MIM:300635]. XLP is a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV) . Symptoms include severe or fatal mononucleosis , acquired hypogammaglobulinemia , pancytopenia and malignant lymphoma. ,Domain:The first BIR domain is involved in interaction with MAP3K7IP1 and is important for dimerization. The second BIR domain is sufficient to inhibit caspase-3 and caspase-7 , while the third BIR is involved in caspase-9 inhibition. The interactions with SMAC and PRSS25 are mediated by the second and third BIR domains. ,Function:Apoptotic suppressor. Has E3 ubiquitin-protein ligase activity. Mediates the proteasomal degradation of target proteins , such as caspase-3 , SMAC or AIFM1. Inhibitor of caspase-3 , -7 and -9. Mediates activation of MAP3K7/TAK1 , leading to the activation of NF-kappa-B. ,online information:XIAP mutation db ,PTM:Phosphorylation by PKB/AKT protects XIAP against ubiquitination and protects the protein against proteasomal degradation. ,PTM:Ubiquitinated and degraded by the proteasome in apoptotic cells. ,similarity:Belongs to the IAP family. ,similarity:Contains 1 RING-type zinc finger. ,similarity:Contains 3 BIR repeats. ,subunit:Monomer , and homodimer. Interacts with SMAC and with PRSS25; these interactions inhibit apoptotic suppressor activity. Interacts with MAP3K7IP1 and AIFM1. Interaction with SMAC hinders binding of MAP3K7IP1 and AIFM1. Interacts with TCF25. ,tissue specificity:Ubiquitous , except peripheral blood leukocytes. ,
展开内容