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)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  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
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  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
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  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.