Human Gene BCL10 (ENST00000648566.1_8) from GENCODE V47lift37
  Description: BCL10 immune signaling adaptor, transcript variant 1 (from RefSeq NM_003921.5)
Gencode Transcript: ENST00000648566.1_8
Gencode Gene: ENSG00000142867.14_14
Transcript (Including UTRs)
   Position: hg19 chr1:85,731,459-85,742,315 Size: 10,857 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:85,733,310-85,742,035 Size: 8,726 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:85,731,459-85,742,315)mRNA (may differ from genome)Protein (233 aa)
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-  Comments and Description Text from UniProtKB
  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.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: BCL10
Diseases sorted by gene-association score: immunodeficiency 37* (969), mesothelioma, somatic* (956), lymphoma, malt, somatic* (880), testicular germ cell tumor* (685), follicular lymphoma* (411), acute t cell leukemia* (403), sezary's disease* (403), follicular lymphoma 1* (400), benign mesothelioma* (283), lymphoma, non-hodgkin* (256), colonic benign neoplasm* (179), leukemia, acute lymphoblastic* (126), colorectal cancer* (65), lymphoma (56), gastric lymphoma (19), pancreatic acinar cell adenocarcinoma (16), b-cell lymphoma of mucosa-associated lymphoid tissue (13), primary cutaneous marginal zone b-cell lymphoma (13), acinar cell carcinoma (13), marginal zone b-cell lymphoma (13), b-cell lymphomas (13), depersonalization disorder (11), orofaciodigital syndrome viii (6), rh isoimmunization (5), chronic lymphocytic leukemia (5), ectopic cushing syndrome (5), rapp-hodgkin syndrome (5), hodgkin lymphoma (4), diffuse large b-cell lymphoma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -112.60280-0.402 Picture PostScript Text
3' UTR -398.001851-0.215 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001315 - CARD
IPR011029 - DEATH-like

Pfam Domains:
PF00619 - Caspase recruitment domain

SCOP Domains:
47986 - DEATH domain

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008134 transcription factor binding
GO:0019899 enzyme binding
GO:0019900 kinase binding
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0043422 protein kinase B binding
GO:0043621 protein self-association
GO:0051059 NF-kappaB binding
GO:0019209 kinase activator activity

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

Cellular Component:
GO:0001772 immunological synapse
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005829 cytosol
GO:0005881 cytoplasmic microtubule
GO:0016020 membrane
GO:0032449 CBM complex
GO:0032991 macromolecular complex
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
GO:0042101 T cell receptor complex
GO:0046696 lipopolysaccharide receptor complex


-  Descriptions from all associated GenBank mRNAs
  BX647306 - Homo sapiens mRNA; cDNA DKFZp686L10196 (from clone DKFZp686L10196).
AF082283 - Homo sapiens CARD-containing apoptotic signaling protein (BCL10) mRNA, complete cds.
JD506868 - Sequence 487892 from Patent EP1572962.
JD358739 - Sequence 339763 from Patent EP1572962.
JD168573 - Sequence 149597 from Patent EP1572962.
JD081656 - Sequence 62680 from Patent EP1572962.
JD311842 - Sequence 292866 from Patent EP1572962.
JD425227 - Sequence 406251 from Patent EP1572962.
JD414860 - Sequence 395884 from Patent EP1572962.
JD157778 - Sequence 138802 from Patent EP1572962.
JD331144 - Sequence 312168 from Patent EP1572962.
JD295437 - Sequence 276461 from Patent EP1572962.
JD295614 - Sequence 276638 from Patent EP1572962.
JD365060 - Sequence 346084 from Patent EP1572962.
JD504497 - Sequence 485521 from Patent EP1572962.
JD329971 - Sequence 310995 from Patent EP1572962.
JD338529 - Sequence 319553 from Patent EP1572962.
JD441830 - Sequence 422854 from Patent EP1572962.
JD286052 - Sequence 267076 from Patent EP1572962.
JD252794 - Sequence 233818 from Patent EP1572962.
JD059618 - Sequence 40642 from Patent EP1572962.
JD213219 - Sequence 194243 from Patent EP1572962.
JD341577 - Sequence 322601 from Patent EP1572962.
JD241956 - Sequence 222980 from Patent EP1572962.
JD146221 - Sequence 127245 from Patent EP1572962.
JD523934 - Sequence 504958 from Patent EP1572962.
JD289702 - Sequence 270726 from Patent EP1572962.
JD541962 - Sequence 522986 from Patent EP1572962.
JD431819 - Sequence 412843 from Patent EP1572962.
JD502445 - Sequence 483469 from Patent EP1572962.
AK291346 - Homo sapiens cDNA FLJ75937 complete cds, highly similar to Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.
LF206081 - JP 2014500723-A/13584: Polycomb-Associated Non-Coding RNAs.
AJ006288 - Homo sapiens mRNA for bcl-10 protein.
JD355791 - Sequence 336815 from Patent EP1572962.
AF100338 - Homo sapiens CARD containing molecule enhancing NF-kB mRNA, complete cds.
AF057700 - Homo sapiens CIPER protein (CIPER) mRNA, complete cds.
AF134395 - Homo sapiens CARD-like apoptotic protein (CLAP) mRNA, complete cds.
BC053617 - Homo sapiens B-cell CLL/lymphoma 10, mRNA (cDNA clone MGC:61430 IMAGE:6143423), complete cds.
JD160243 - Sequence 141267 from Patent EP1572962.
JD510843 - Sequence 491867 from Patent EP1572962.
LF351190 - JP 2014500723-A/158693: Polycomb-Associated Non-Coding RNAs.
EF189176 - Homo sapiens mutant B-cell CLL/lymphoma 10 (BCL10) mRNA, complete cds.
AF105066 - Homo sapiens caspase-recruiting domain-containing protein c-E10 mRNA, complete cds.
AF127386 - Homo sapiens CARD-containing proapoptotic protein ME10 (ME10) mRNA, complete cds.
CU691004 - Synthetic construct Homo sapiens gateway clone IMAGE:100021588 5' read BCL10 mRNA.
KJ892654 - Synthetic construct Homo sapiens clone ccsbBroadEn_02048 BCL10 gene, encodes complete protein.
KR711084 - Synthetic construct Homo sapiens clone CCSBHm_00020120 BCL10 (BCL10) mRNA, encodes complete protein.
KR711085 - Synthetic construct Homo sapiens clone CCSBHm_00020121 BCL10 (BCL10) mRNA, encodes complete protein.
AB527491 - Synthetic construct DNA, clone: pF1KB7938, Homo sapiens BCL10 gene for B-cell CLL/lymphoma 10, without stop codon, in Flexi system.
AK098790 - Homo sapiens cDNA FLJ25924 fis, clone CBR05109.
JD336486 - Sequence 317510 from Patent EP1572962.
JD436888 - Sequence 417912 from Patent EP1572962.
JD475977 - Sequence 457001 from Patent EP1572962.
JD142421 - Sequence 123445 from Patent EP1572962.
JD392310 - Sequence 373334 from Patent EP1572962.
JD227683 - Sequence 208707 from Patent EP1572962.
MA586767 - JP 2018138019-A/158693: Polycomb-Associated Non-Coding RNAs.
MA441658 - JP 2018138019-A/13584: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95999 (Reactome details) participates in the following event(s):

R-HSA-202466 Interaction of Bcl10 to CARMA1
R-HSA-5607733 BCL10 binds CARD9
R-HSA-8939323 RNF181 binds BCL10 and Ubiquitin:E2
R-HSA-202489 Oligomerization of Bcl10
R-HSA-1168644 CARMA1 recruits MALT1 and BCL10 forming CBM Complex
R-HSA-202459 Phosphorylation of Bcl10
R-HSA-2730836 Interaction of BCL10:MALT1 with CARMA1 to form CBM complex
R-HSA-202478 Interaction and oligomerization of MALT1 to Bcl10
R-HSA-202472 Translocation of TRAF6 to CBM complex
R-HSA-1168641 TAK1 associated with the CBM complex phosphorylates IKKbeta
R-HSA-202510 Activation of TAK1-TAB2 complex
R-HSA-202453 Auto-ubiquitination of TRAF6
R-HSA-202500 Activation of IKK complex
R-HSA-202424 Downstream TCR signaling
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-1169091 Activation of NF-kappaB in B cells
R-HSA-202403 TCR signaling
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-8852135 Protein ubiquitination
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR)
R-HSA-1280218 Adaptive Immune System
R-HSA-168249 Innate Immune System
R-HSA-597592 Post-translational protein modification
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-168256 Immune System
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: BCL10 , BCL10_HUMAN, CIPER , CLAP , NM_003921, O95999, Q5VUF1, uc328ozt.1, uc328ozt.2
UCSC ID: ENST00000648566.1_8
RefSeq Accession: NM_003921.5
Protein: O95999 (aka BCL10_HUMAN or BCLA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.