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

Gene ID: 8915, updated on 2-May-2024

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; AllianceGenome:HGNC:989
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
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Genomic context

See BCL10 in Genome Data Viewer
Location:
1p22.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (85265776..85276632, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (85106896..85118200, complement)
105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 1032 Neighboring gene Sharpr-MPRA regulatory region 4548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1267 Neighboring gene chromosome 1 open reading frame 52 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85741508-85742707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1269 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85754924-85756123 Neighboring gene BCL10 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:85773869-85774369 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:85790493-85791014 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9272 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:85794423-85795001 Neighboring gene dimethylarginine dimethylaminohydrolase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:85859729-85860506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1035 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85960912-85962111 Neighboring gene uncharacterized LOC124904208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1270 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:86046012-86046534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:86047581-86048102 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CARD domain binding IEA
Inferred from Electronic Annotation
more info
 
enables NF-kappaB binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables NF-kappaB binding IDA
Inferred from Direct Assay
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
 
contributes_to kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protease 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
 
enables protein kinase B binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
enables protein-macromolecule adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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
 
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 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 non-canonical NF-kappaB signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
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 canonical NF-kappaB signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of canonical NF-kappaB signal transduction IEP
Inferred from Expression Pattern
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
 
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 
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 programmed cell death 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
 
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
 
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)

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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
    Consensus CDS
    CCDS90994.1
    UniProtKB/TrEMBL
    A0A087WWW9
    Related
    ENSP00000480561.2, ENST00000620248.3
    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, Q5VUF1
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011542397.4XP_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
  2. XM_011542399.3XP_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
  3. XM_011542398.3XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    85106896..85118200 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339467.1XP_054195442.1  B-cell lymphoma/leukemia 10 isoform X1

  2. XM_054339468.1XP_054195443.1  B-cell lymphoma/leukemia 10 isoform X2