Human Gene BCL10 (ENST00000648566.1) from GENCODE V44
Description: Homo sapiens BCL10 immune signaling adaptor (BCL10), transcript variant 1, mRNA. (from RefSeq NM_003921) RefSeq Summary (NM_003921): This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. Gencode Transcript: ENST00000648566.1 Gencode Gene: ENSG00000142867.14 Transcript (Including UTRs) Position: hg38 chr1:85,265,776-85,276,632 Size: 10,857 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr1:85,267,627-85,276,352 Size: 8,726 Coding Exon Count: 3
ID:BCL10_HUMAN DESCRIPTION: RecName: Full=B-cell lymphoma/leukemia 10; AltName: Full=B-cell CLL/lymphoma 10; Short=Bcl-10; AltName: Full=CARD-containing molecule enhancing NF-kappa-B; AltName: Full=CARD-like apoptotic protein; Short=hCLAP; AltName: Full=CED-3/ICH-1 prodomain homologous E10-like regulator; Short=CIPER; AltName: Full=Cellular homolog of vCARMEN; Short=cCARMEN; AltName: Full=Cellular-E10; Short=c-E10; AltName: Full=Mammalian CARD-containing adapter molecule E10; Short=mE10; 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. SUBUNIT: Found 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. INTERACTION: P31749:AKT1; NbExp=4; IntAct=EBI-958922, EBI-296087; P20749:BCL3; NbExp=3; IntAct=EBI-958922, EBI-958997; SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Membrane raft. 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. TISSUE SPECIFICITY: Ubiquitous. PTM: Phosphorylated. Phosphorylation results in dissociation from TRAF2 and binding to BIRC2/c-IAP2. Phosphorylated by IKBKB/IKKB. 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. DISEASE: Note=Defects in BCL10 are involved in various types of cancer. DISEASE: Defects in BCL10 are a cause of mesothelioma 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. SIMILARITY: Contains 1 CARD domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95999
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001783 B cell apoptotic process GO:0001843 neural tube closure GO:0002223 stimulatory C-type lectin receptor signaling pathway GO:0002224 toll-like receptor signaling pathway GO:0002237 response to molecule of bacterial origin GO:0002250 adaptive immune response GO:0002376 immune system process GO:0002906 negative regulation of mature B cell apoptotic process GO:0006915 apoptotic process GO:0006968 cellular defense response GO:0007249 I-kappaB kinase/NF-kappaB signaling GO:0008219 cell death GO:0009620 response to fungus GO:0016064 immunoglobulin mediated immune response GO:0016567 protein ubiquitination GO:0031398 positive regulation of protein ubiquitination GO:0032094 response to food GO:0032765 positive regulation of mast cell cytokine production GO:0038095 Fc-epsilon receptor signaling pathway GO:0042109 lymphotoxin A biosynthetic process GO:0042226 interleukin-6 biosynthetic process GO:0042327 positive regulation of phosphorylation GO:0042981 regulation of apoptotic process GO:0043065 positive regulation of apoptotic process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0045087 innate immune response GO:0045416 positive regulation of interleukin-8 biosynthetic process GO:0045893 positive regulation of transcription, DNA-templated GO:0050852 T cell receptor signaling pathway GO:0050856 regulation of T cell receptor signaling pathway GO:0050870 positive regulation of T cell activation GO:0051092 positive regulation of NF-kappaB transcription factor activity GO:0051259 protein oligomerization GO:0051260 protein homooligomerization GO:0051291 protein heterooligomerization GO:0070231 T cell apoptotic process GO:0071260 cellular response to mechanical stimulus GO:2001238 positive regulation of extrinsic apoptotic signaling pathway
US Server
