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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in islet beta-cell function in health and metabolic stress: Is there room for MALT1?
Title: Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in islet β-cell function in health and metabolic stress: Is there room for MALT1?
A transposable element into the human long noncoding RNA CARMEN is a switch for cardiac precursor cell specification.
Title: A transposable element into the human long noncoding RNA CARMEN is a switch for cardiac precursor cell specification.
BCL10 correlates with bad prognosis and immune infiltration of tumor microenvironment in hepatocellular carcinoma.
Title: BCL10 correlates with bad prognosis and immune infiltration of tumor microenvironment in hepatocellular carcinoma.
BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency.
Title: BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency.
BCL10 Mutations Define Distinct Dependencies Guiding Precision Therapy for DLBCL.
Title: BCL10 Mutations Define Distinct Dependencies Guiding Precision Therapy for DLBCL.
A nucleation barrier spring-loads the CBM signalosome for binary activation.
Title: A nucleation barrier spring-loads the CBM signalosome for binary activation.
TRIM41 is required to innate antiviral response by polyubiquitinating BCL10 and recruiting NEMO.
Title: TRIM41 is required to innate antiviral response by polyubiquitinating BCL10 and recruiting NEMO.
Correlation analysis between CARMEN variants and alcohol-induced osteonecrosis of the femoral head in the Chinese population.
Title: Correlation analysis between CARMEN variants and alcohol-induced osteonecrosis of the femoral head in the Chinese population.
Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
Title: Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
ZNF436 has a role in promoting tumor cell proliferation through transcriptional activation of BCL10 in glioma
Title: ZNF436 promotes tumor cell proliferation through transcriptional activation of BCL10 in glioma.

Submit: New GeneRIF Correction See all GeneRIFs (96)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Germ cell tumor of testis MedGen: C1336708 OMIM: 273300 GeneReviews: Not available	Compare labs
Immunodeficiency 37 MedGen: C4015195 OMIM: 616098 GeneReviews: Not available	Compare labs
Lymphoma, non-Hodgkin, familial MedGen: C4721532 OMIM: 605027 GeneReviews: Not available	Compare labs
Mesothelioma, malignant MedGen: C0345967 OMIM: 156240 GeneReviews: Not available	Compare labs
Mucosa-associated lymphoma MedGen: C0242647 OMIM: 137245 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BCL10_716 (e-PCR)
- UniSTS:277025

BCL10_V86 (e-PCR)
- UniSTS:277025

RH98853 (e-PCR)
- UniSTS:84807

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

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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

NG_012216.2 RefSeqGene

Range

5273..16129

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1210

mRNA and Protein(s)

NM_001320715.2 → NP_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:17 → 100

CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
NM_003921.5 → NP_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:17 → 100

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

85265776..85276632 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542397.4 → XP_011540699.1 B-cell lymphoma/leukemia 10 isoform X1

Conserved Domains (1) summary

cd08810
Location:73 → 153

CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
XM_011542399.3 → XP_011540701.1 B-cell lymphoma/leukemia 10 isoform X3

Conserved Domains (1) summary

cd08810
Location:2 → 82

CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10
XM_011542398.3 → XP_011540700.1 B-cell lymphoma/leukemia 10 isoform X2

Conserved Domains (1) summary

cd08810
Location:73 → 153

CARD_BCL10; Caspase activation and recruitment domain of B-cell lymphoma 10