ID  O95999;
PN  B-cell lymphoma/leukemia 10;
GN  BCL10;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm, 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. {ECO:0000269|PubMed:17287217}.
DR  UNIPROT: O95999;
DR  UNIPROT: Q5VUF1;
DR  PDB: 2MB9;
DR  PDB: 6BZE;
DR  PDB: 6GK2;
DR  Pfam: PF00619;
DR  PROSITE: PS50209;
DR  OMIM: 137245;
DR  OMIM: 603517;
DR  OMIM: 616098;
DR  DisGeNET: 8915;
DE  Function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation (PubMed:10187770, PubMed:10364242, PubMed:10400625, PubMed:25365219, PubMed:24074955). Acts by channeling adaptive and innate immune signaling downstream of CARD domain-containing proteins CARD9, CARD11 and CARD14 to activate NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:24074955). Recruited by activated CARD domain-containing proteins: homooligomerized CARD domain-containing proteins form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10, subsequent recruitment of MALT1 and formation of a CBM complex (PubMed:24074955). This leads to activation of NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:18287044, PubMed:27777308, PubMed:24074955). Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity (PubMed:26488816). Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) (PubMed:18264101, PubMed:18287044, PubMed:27777308, PubMed:24074955). Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK (PubMed:10187815). {ECO:0000269|PubMed:10187770, ECO:0000269|PubMed:10187815, ECO:0000269|PubMed:10364242, ECO:0000269|PubMed:10400625, ECO:0000269|PubMed:18264101, ECO:0000269|PubMed:18287044, ECO:0000269|PubMed:24074955, ECO:0000269|PubMed:25365219, ECO:0000269|PubMed:26488816, ECO:0000269|PubMed:27777308}.
DE  Disease: Note=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. {ECO:0000269|PubMed:9989495}. Immunodeficiency 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 variants affecting the gene represented in this entry. Lymphoma, mucosa-associated lymphoid type (MALTOMA) [MIM:137245]: A subtype of non-Hodgkin lymphoma, originating in mucosa- associated lymphoid tissue. MALT lymphomas occur most commonly in the gastro-intestinal tract but have been described in a variety of extranodal sites including the ocular adnexa, salivary gland, thyroid, lung, thymus, and breast. Histologically, they are characterized by an infiltrate of small to medium-sized lymphocytes with abundant cytoplasm and irregularly shaped nuclei. Scattered transformed blasts (large cells) also are present. Non-malignant reactive follicles are observed frequently. A pivotal feature is the presence of lymphoepithelial lesions, with invasion and partial destruction of mucosal glands and crypts by aggregates of tumor cells. {ECO:0000269|PubMed:9989495}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: Q96LW7; IntAct: EBI-7443946; Score: 0.60
DE  Interaction: P31749; IntAct: EBI-958921; Score: 0.69
DE  Interaction: P20749; IntAct: EBI-959017; Score: 0.52
DE  Interaction: Q14525; IntAct: EBI-1077929; Score: 0.00
DE  Interaction: P62807; IntAct: EBI-1084020; Score: 0.00
DE  Interaction: Q9Y6K9; IntAct: EBI-7334387; Score: 0.79
DE  Interaction: Q04759; IntAct: EBI-7334619; Score: 0.40
DE  Interaction: Q9BXL7; IntAct: EBI-7661911; Score: 0.86
DE  Interaction: Q9UDY8; IntAct: EBI-7661911; Score: 0.92
DE  Interaction: Q92905; IntAct: EBI-7006208; Score: 0.35
DE  Interaction: P50750; IntAct: EBI-3906788; Score: 0.37
DE  Interaction: Q13261; IntAct: EBI-3910825; Score: 0.37
DE  Interaction: Q07955; IntAct: EBI-3913288; Score: 0.37
DE  Interaction: Q8WUM9; IntAct: EBI-3913379; Score: 0.37
DE  Interaction: O14745; IntAct: EBI-3914094; Score: 0.37
DE  Interaction: Q9BZD6; IntAct: EBI-3921644; Score: 0.37
DE  Interaction: Q8N6Y0; IntAct: EBI-3941289; Score: 0.44
DE  Interaction: Q14790; IntAct: EBI-6253103; Score: 0.35
DE  Interaction: Q9H257; IntAct: EBI-6665220; Score: 0.55
DE  Interaction: Q9ULZ3; IntAct: EBI-6253113; Score: 0.35
DE  Interaction: Q92688; IntAct: EBI-8995108; Score: 0.37
DE  Interaction: Q14032; IntAct: EBI-8995121; Score: 0.37
DE  Interaction: P09467; IntAct: EBI-8995160; Score: 0.37
DE  Interaction: Q9BU70; IntAct: EBI-8995134; Score: 0.37
DE  Interaction: O60729; IntAct: EBI-8995147; Score: 0.37
DE  Interaction: Q9BXL5; IntAct: EBI-8995173; Score: 0.37
DE  Interaction: Q9P1Z9; IntAct: EBI-8995186; Score: 0.37
DE  Interaction: Q9NR45; IntAct: EBI-8995209; Score: 0.37
DE  Interaction: P20936; IntAct: EBI-8995222; Score: 0.37
DE  Interaction: P01137; IntAct: EBI-8995235; Score: 0.37
DE  Interaction: Q12933; IntAct: EBI-10193048; Score: 0.81
DE  Interaction: O95999; IntAct: EBI-10483822; Score: 0.75
DE  Interaction: Q05513; IntAct: EBI-10689973; Score: 0.52
DE  Interaction: P06930; IntAct: EBI-11737514; Score: 0.37
DE  Interaction: P33215; IntAct: EBI-10993316; Score: 0.35
DE  Interaction: O95684; IntAct: EBI-11381827; Score: 0.27
DE  Interaction: Q6P5F9; IntAct: EBI-11603310; Score: 0.35
DE  Interaction: Q9Y2V7; IntAct: EBI-11773232; Score: 0.70
DE  Interaction: Q9H0F6; IntAct: EBI-11692014; Score: 0.40
DE  Interaction: Q66677; IntAct: EBI-11709450; Score: 0.51
DE  Interaction: Q9Y297; IntAct: EBI-15618375; Score: 0.35
DE  Interaction: O14920; IntAct: EBI-15618375; Score: 0.35
DE  Interaction: P48729; IntAct: EBI-15748832; Score: 0.35
DE  Interaction: P17813; IntAct: EBI-22197897; Score: 0.35
DE  Interaction: Q96PU8; IntAct: EBI-26969026; Score: 0.35
GO  GO:0032449;
GO  GO:0005737;
GO  GO:0005881;
GO  GO:0005829;
GO  GO:0001772;
GO  GO:0005764;
GO  GO:0045121;
GO  GO:0005634;
GO  GO:0048471;
GO  GO:0002096;
GO  GO:0032991;
GO  GO:0050700;
GO  GO:0019899;
GO  GO:0140296;
GO  GO:0042802;
GO  GO:0019900;
GO  GO:0051059;
GO  GO:0002020;
GO  GO:0008022;
GO  GO:0043422;
GO  GO:0019901;
GO  GO:0043621;
GO  GO:0044877;
GO  GO:0003713;
GO  GO:0031625;
GO  GO:0002250;
GO  GO:0061760;
GO  GO:0001783;
GO  GO:0008219;
GO  GO:0006968;
GO  GO:0071222;
GO  GO:0071260;
GO  GO:0007249;
GO  GO:0016064;
GO  GO:0045087;
GO  GO:0031663;
GO  GO:0002906;
GO  GO:0001843;
GO  GO:0043065;
GO  GO:0043280;
GO  GO:0045893;
GO  GO:2001238;
GO  GO:0043123;
GO  GO:0032755;
GO  GO:0032757;
GO  GO:0033674;
GO  GO:0032761;
GO  GO:0032765;
GO  GO:0051092;
GO  GO:0042327;
GO  GO:0031398;
GO  GO:0050870;
GO  GO:0050862;
GO  GO:0051260;
GO  GO:0032094;
GO  GO:0070231;
GO  GO:0050852;
GO  GO:0002224;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLD
SQ  TLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGES
SQ  STTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
//