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

Gene ID: 8915, updated on 1-Jun-2020

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

Genomic context

See BCL10 in Genome Data Viewer
Location:
1p22.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (85265776..85276632, 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 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
CARD domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
NF-kappaB binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NF-kappaB binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
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 IBA
Inferred from Biological aspect of Ancestor
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 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 lipopolysaccharide IEP
Inferred from Expression Pattern
more info
PubMed 
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 
lipopolysaccharide-mediated signaling pathway IDA
Inferred from Direct Assay
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 apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of extrinsic apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 kinase activity IEA
Inferred from Electronic Annotation
more info
 
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 ubiquitination TAS
Traceable Author Statement
more info
 
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
 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
toll-like receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
CBM complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CBM complex IDA
Inferred from Direct Assay
more info
PubMed 
CBM complex NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
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
 
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 
polkadots IEA
Inferred from Electronic Annotation
more info
 
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)

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.

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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