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    BCL10 BCL10 immune signaling adaptor [ Homo sapiens (human) ]

    Gene ID: 8915, updated on 11-Jul-2021

    Summary

    Official Symbol
    BCL10provided by HGNC
    Official Full Name
    BCL10 immune signaling adaptorprovided by HGNC
    Primary source
    HGNC:HGNC:989
    See related
    Ensembl:ENSG00000142867 MIM:603517
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLAP; mE10; CIPER; IMD37; c-E10; CARMEN
    Summary
    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]
    Expression
    Ubiquitous expression in colon (RPKM 9.9), gall bladder (RPKM 8.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BCL10 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (85265776..85276632, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85731459..85742315, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378821 Neighboring gene Sharpr-MPRA regulatory region 4548 Neighboring gene chromosome 1 open reading frame 52 Neighboring gene uncharacterized LOC646626 Neighboring gene dimethylarginine dimethylaminohydrolase 1 Neighboring gene uncharacterized LOC107985054 Neighboring gene cellular communication network factor 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CARD domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables NF-kappaB binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables NF-kappaB binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables general transcription initiation factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    contributes_to kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase B binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein kinase B binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein self-association IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein self-association IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in I-kappaB kinase/NF-kappaB signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in T cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adaptive immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in adaptive immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adaptive immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in antifungal innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular defense response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lipopolysaccharide IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in immunoglobulin mediated immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in lipopolysaccharide-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of mature B cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of extrinsic apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of interleukin-6 production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of interleukin-8 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of positive regulation of lymphotoxin A production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of positive regulation of mast cell cytokine production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to food IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in toll-like receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of CBM complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of CBM complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of CBM complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in immunological synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of polkadots IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    B-cell lymphoma/leukemia 10
    Names
    B cell CLL/lymphoma 10
    CARD containing molecule enhancing NF-kB
    CARD-containing apoptotic signaling protein
    CARD-containing molecule enhancing NF-kappa-B
    CARD-containing proapoptotic protein
    CED-3/ICH-1 prodomain homologous E10-like regulator
    cCARMEN
    caspase-recruiting domain-containing protein
    cellular homolog of vCARMEN
    cellular-E10
    hCLAP
    mammalian CARD-containing adapter molecule E10

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012216.2 RefSeqGene

      Range
      5273..16129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1210

    mRNA and Protein(s)

    1. NM_001320715.2NP_001307644.1  B-cell lymphoma/leukemia 10 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL590113, CA420027, EF189176
      UniProtKB/TrEMBL
      A2TDT2
      Related
      ENSP00000480561.2, ENST00000620248.2
      Conserved Domains (1) summary
      cd08810
      Location:17100
      CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
    2. NM_003921.5NP_003912.1  B-cell lymphoma/leukemia 10 isoform 1

      See identical proteins and their annotated locations for NP_003912.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF082283, AK291346, AL590113, CA420027
      Consensus CDS
      CCDS704.1
      UniProtKB/Swiss-Prot
      O95999
      Related
      ENSP00000498104.1, ENST00000648566.1
      Conserved Domains (1) summary
      cd08810
      Location:17100
      CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      85265776..85276632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542398.2XP_011540700.1  B-cell lymphoma/leukemia 10 isoform X2

      Conserved Domains (1) summary
      cd08810
      Location:73153
      CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
    2. XM_011542397.3XP_011540699.1  B-cell lymphoma/leukemia 10 isoform X1

      Conserved Domains (1) summary
      cd08810
      Location:73153
      CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
    3. XM_011542399.2XP_011540701.1  B-cell lymphoma/leukemia 10 isoform X3

      Conserved Domains (1) summary
      cd08810
      Location:282
      CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
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