Disease:A chromosomal aberration involving BCL10 is recurrent in low-grade mucosa-associated lymphoid tissue (MALT lymphoma) . Translocation t (1;14) (p22;q32) . Although the BCL10/IgH translocation leaves the coding region of BCL10 intact , frequent BCL10 mutations could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide transitions. ,Disease:Defects in BCL10 are involved in various types of cancer. ,Function:Promotes apoptosis , pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate for MALT1. ,PTM:Phosphorylated. Phosphorylation results in dissociation from TRAF2 and binding to BIRC2/c-IAP2. ,similarity:Contains 1 CARD domain. ,subcellular location:Appears to have a perinuclear , compact and filamentous pattern of expression. Also found in the nucleus of several types of tumor cells. ,subunit:Self-associates by CARD-CARD interaction and forms a tight complex with MALT1. Interacts with other CARD-proteins such as CARD9 , CARD10 , CARD11 and CARD14. Binds caspase-9 with its C-terminal domain. Interacts with TRAF2 and BIRC2/c-IAP2. ,tissue specificity:Ubiquitous. ,
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