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MGP003747

UniProt Annotations

Entry Information
Gene NameB-cell CLL/lymphoma 10
Protein EntryBCL10_HUMAN
UniProt IDO95999
SpeciesHuman
Comments
Comment typeDescription
DiseaseImmunodeficiency 37 (IMD37) [MIM:616098]: A form of primary combined immunodeficiency, a group of disorders characterized by severe recurrent infections, with normal numbers or an absence of T and B lymphocytes, and impaired cellular and humoral immunity. IMD37 is characterized by hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells, and increased numbers of circulating naive lymphocytes. Inheritance is autosomal recessive. {ECO:0000269|PubMed:25365219}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle- shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. Note=The gene represented in this entry may be involved in disease pathogenesis.
DiseaseNote=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.
DiseaseNote=Defects in BCL10 are involved in various types of cancer.
FunctionInvolved in adaptive immune response (PubMed:25365219). 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 (PubMed:18264101). {ECO:0000269|PubMed:18264101, ECO:0000269|PubMed:25365219}.
InteractionP31749:AKT1; NbExp=4; IntAct=EBI-958922, EBI-296087; P20749:BCL3; NbExp=3; IntAct=EBI-958922, EBI-958997; Q9BXL7:CARD11; NbExp=4; IntAct=EBI-958922, EBI-7006141; Q9UDY8:MALT1; NbExp=12; IntAct=EBI-958922, EBI-1047372;
PtmPhosphorylated. Phosphorylation results in dissociation from TRAF2 and binding to BIRC2/c-IAP2. Phosphorylated by IKBKB/IKKB. {ECO:0000269|PubMed:11466612, ECO:0000269|PubMed:17213322, ECO:0000269|PubMed:21406692}.
SimilarityContains 1 CARD domain. {ECO:0000255|PROSITE- ProRule:PRU00046}.
Subcellular LocationCytoplasm, perinuclear region {ECO:0000269|PubMed:17287217}. Membrane raft {ECO:0000269|PubMed:17287217}. Note=Appears to have a perinuclear, compact and filamentous pattern of expression. Also found in the nucleus of several types of tumor cells. Colocalized with DPP4 in membrane rafts.
SubunitFound in a membrane raft complex, at least composed of BCL10, CARD11, DPP4 and IKBKB. 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. Interacts with PELI2 and SOCS3; these interactions may be mutually exclusive (By similarity). {ECO:0000250}.
Tissue SpecificityUbiquitous.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL10ID222ch1p22.html";
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