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BCL10 B-cell CLL/lymphoma 10 [ Homo sapiens (human) ]

Gene ID: 8915, updated on 26-May-2016
Official Symbol
BCL10provided by HGNC
Official Full Name
B-cell CLL/lymphoma 10provided by HGNC
Primary source
HGNC:HGNC:989
See related
Ensembl:ENSG00000142867 HPRD:04625; MIM:603517; Vega:OTTHUMG00000009965
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]
Orthologs
Location:
1p22
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (85265776..85276904, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85731459..85742604, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378821 Neighboring gene chromosome 1 open reading frame 52 Neighboring gene uncharacterized LOC646626 Neighboring gene dimethylarginine dimethylaminohydrolase 1 Neighboring gene cysteine rich angiogenic inducer 61

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Follicular lymphoma 1
MedGen: C2751665 OMIM: 613024 GeneReviews: Not available
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Gastric lymphoma
MedGen: C1850900 OMIM: 137245 GeneReviews: Not available
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Immunodeficiency 37
MedGen: CN221289 OMIM: 616098 GeneReviews: Not available
not available
Malignant lymphoma, non-Hodgkin
MedGen: C0024305 OMIM: 605027 GeneReviews: Not available
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Malignant tumor of testis
MedGen: C0153594 OMIM: 273300 GeneReviews: Not available
Compare labs
Mesothelioma, malignant
MedGen: C0345967 OMIM: 156240 GeneReviews: Not available
Compare labs
  • Activation of NF-kappaB in B cells, organism-specific biosystem (from REACTOME)
    Activation of NF-kappaB in B cells, organism-specific biosystemDAG and calcium activate protein kinase C beta (PKC-beta, Kochs et al. 1991) which phosphorylates CARMA1 and other proteins (Sommer et al. 2005). Phosphorylated CARMA1 recruits BCL10 and MALT1 to for...
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
  • B cell receptor signaling pathway, organism-specific biosystem (from KEGG)
    B cell receptor signaling pathway, organism-specific biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
  • B cell receptor signaling pathway, conserved biosystem (from KEGG)
    B cell receptor signaling pathway, conserved biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
  • BCR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    BCR signaling pathway, organism-specific biosystem
    BCR signaling pathway
  • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
    C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
  • CLEC7A (Dectin-1) signaling, organism-specific biosystem (from REACTOME)
    CLEC7A (Dectin-1) signaling, organism-specific biosystemCLEC7A (also known as Dectin-1) is a pattern-recognition receptor (PRR) expressed by myeloid cells (macrophages, dendritic cells and neutrophils) that detects pathogens by binding to beta-1,3-glucans...
  • Canonical NF-kappaB pathway, organism-specific biosystem (from Pathway Interaction Database)
    Canonical NF-kappaB pathway, organism-specific biosystem
    Canonical NF-kappaB pathway
  • Downstream TCR signaling, organism-specific biosystem (from REACTOME)
    Downstream TCR signaling, organism-specific biosystemChanges in gene expression are required for the T cell to gain full proliferative competence and to produce effector cytokines. Three transcription factors in particular have been found to play a key...
  • Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
  • FCERI mediated NF-kB activation, organism-specific biosystem (from REACTOME)
    FCERI mediated NF-kB activation, organism-specific biosystemThe increase in intracellular Ca+2 in conjunction with DAG also activates PKC and RasGRP, which inturn contributes to cytokine production by mast cells (Kambayashi et al. 2007). Activation of the FCE...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
    NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • NF-kappa B signaling pathway, conserved biosystem (from KEGG)
    NF-kappa B signaling pathway, conserved biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • T cell receptor signaling pathway, organism-specific biosystem (from KEGG)
    T cell receptor signaling pathway, organism-specific biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
  • T cell receptor signaling pathway, conserved biosystem (from KEGG)
    T cell receptor signaling pathway, conserved biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
  • TCR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TCR Signaling Pathway, organism-specific biosystemThe T-cell antigen receptor (TCR) complex is composed of a ligand-binding subunit, the ? and ? chains, and a signaling subunit, namely the CD3?, ? and ? chains and the TCR? chain. This complex partic...
  • TCR signaling, organism-specific biosystem (from REACTOME)
    TCR signaling, organism-specific biosystemThe TCR is a multisubunit complex that consists of clonotypic alpha/beta chains noncovalently associated with the invariant CD3 delta/epsilon/gamma and TCR zeta chains. T cell activation by antigen p...
  • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD4+ T cells, organism-specific biosystem
    TCR signaling in naive CD4+ T cells
  • TCR signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD8+ T cells, organism-specific biosystem
    TCR signaling in naive CD8+ T cells
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NF-kappaB binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase B binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein self-association IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
I-kappaB kinase/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
T cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
adaptive immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
adaptive immune response TAS
Traceable Author Statement
more info
PubMed 
cell death IDA
Inferred from Direct Assay
more info
PubMed 
cellular defense response IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
immunoglobulin mediated immune response IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEP
Inferred from Expression Pattern
more info
PubMed 
interleukin-6 biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
lymphotoxin A biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of mature B cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell activation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-8 biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mast cell cytokine production NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein homooligomerization TAS
Traceable Author Statement
more info
PubMed 
protein oligomerization IPI
Inferred from Physical Interaction
more info
PubMed 
regulation of T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
response to food IDA
Inferred from Direct Assay
more info
PubMed 
response to fungus IEA
Inferred from Electronic Annotation
more info
 
response to molecule of bacterial origin IEP
Inferred from Expression Pattern
more info
PubMed 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
toll-like receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
CBM complex NAS
Non-traceable Author Statement
more info
PubMed 
colocalizes_with T cell receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
immunological synapse IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with lipopolysaccharide receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
B-cell lymphoma/leukemia 10
Names
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

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_012216.1 RefSeqGene

    Range
    5997..17125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320715.1NP_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
    Conserved Domains (1) summary
    cd08810
    Location:17100
    CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
  2. NM_003921.4NP_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)
    AL590113, BC053617, BI831624, CA420027, CB126730
    Consensus CDS
    CCDS704.1
    UniProtKB/Swiss-Prot
    O95999
    Related
    ENSP00000359612, OTTHUMP00000011647, ENST00000370580, OTTHUMT00000027612
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    85265776..85276904 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271311.2XP_005271368.1  

    Conserved Domains (1) summary
    cd08810
    Location:17100
    CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
  2. XM_011542398.1XP_011540700.1  

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

    Conserved Domains (1) summary
    cd08810
    Location:73153
    CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
  4. XM_011542399.1XP_011540701.1  

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

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    85847075..85858194 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)