BCL3 BCL3 transcription coactivator [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCL3provided by HGNC
Official Full Name: BCL3 transcription coactivatorprovided by HGNC
Primary source: HGNC:HGNC:998
See related: Ensembl:ENSG00000069399 MIM:109560; AllianceGenome:HGNC:998
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: BCL4; D19S37
Summary: This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 8.4), small intestine (RPKM 7.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (44747705..44760044)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (47566894..47584794)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45251965..45263301)

Chromosome 19 - NC_000019.10 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?

BCL3 rearrangements in B-cell lymphoid neoplasms occur in two breakpoint clusters associated with different diseases.
Title: BCL3 rearrangements in B-cell lymphoid neoplasms occur in two breakpoint clusters associated with different diseases.
Bcl-3 regulates T cell function through energy metabolism.
Title: Bcl-3 regulates T cell function through energy metabolism.
Hsa_circ_0088036 promotes nonsmall cell lung cancer progression by regulating miR-1343-3p/Bcl-3 axis through TGFbeta/Smad3/EMT signaling.
Title: Hsa_circ_0088036 promotes nonsmall cell lung cancer progression by regulating miR-1343-3p/Bcl-3 axis through TGFβ/Smad3/EMT signaling.
Hepatocyte Bcl-3 protects from death-receptor mediated apoptosis and subsequent acute liver failure.
Title: Hepatocyte Bcl-3 protects from death-receptor mediated apoptosis and subsequent acute liver failure.
Bcl-3: A Double-Edged Sword in Immune Cells and Inflammation.
Title: Bcl-3: A Double-Edged Sword in Immune Cells and Inflammation.
Bcl3 Couples Cancer Stem Cell Enrichment With Pancreatic Cancer Molecular Subtypes.
Title: Bcl3 Couples Cancer Stem Cell Enrichment With Pancreatic Cancer Molecular Subtypes.
Bcl-3 promotes Wnt signaling by maintaining the acetylation of beta-catenin at lysine 49 in colorectal cancer.
Title: Bcl-3 promotes Wnt signaling by maintaining the acetylation of β-catenin at lysine 49 in colorectal cancer.
PCAT1 induced by transcription factor YY1 promotes cholangiocarcinoma proliferation, migration and invasion by sponging miR-216a-3p to up-regulate oncogene BCL3.
Title: PCAT1 induced by transcription factor YY1 promotes cholangiocarcinoma proliferation, migration and invasion by sponging miR-216a-3p to up-regulate oncogene BCL3.
Bcl-3 promotes multi-modal tumour cell migration via NF-kappaB1 mediated regulation of Cdc42.
Title: Bcl-3 promotes multi-modal tumour cell migration via NF-κB1 mediated regulation of Cdc42.
BCL-3 and beta-catenin signaling and tumor staging in colorectal cancer.
Title: BCL-3 and β-catenin signaling and tumor staging in colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (87)

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
Leukemia/lymphoma, B-cell, 3 MedGen: CN375896 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of B-cell CLL/lymphoma 3 (BCL3) in human B cells	PubMed
Tat	tat	HIV-1 Tat upregulates the expression of B-cell CLL/lymphoma 3 (BCL3) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH75793 (e-PCR)
- UniSTS:92191

BCL3_1822 (e-PCR)
- UniSTS:277029

STS-M31732 (e-PCR)
- UniSTS:19000

GDB:186920 (e-PCR)
- UniSTS:155521

PMC164841P1 (e-PCR)
- UniSTS:271519

RH78499 (e-PCR)
- UniSTS:29690

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in T cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in T-helper 1 type immune response	IEA Inferred from Electronic Annotation more info
involved_in T-helper 2 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in antimicrobial humoral response	IEA Inferred from Electronic Annotation more info
involved_in canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in defense response to protozoan	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in follicular dendritic cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in germinal center formation	IEA Inferred from Electronic Annotation more info
involved_in humoral immune response mediated by circulating immunoglobulin	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in marginal zone B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-8 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of receptor signaling pathway via JAK-STAT	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of tumor necrosis factor production	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 interleukin-10 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type II interferon production	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA binding	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of non-canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to UV-C	IDA Inferred from Direct Assay more info	PubMed
involved_in response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in spleen development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Bcl3-Bcl10 complex	IDA Inferred from Direct Assay more info	PubMed
part_of Bcl3/NF-kappaB2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Bcl3/NF-kappaB2 complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in midbody	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay 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 3 protein

Names: B cell CLL/lymphoma 3; B-cell leukemia/lymphoma 3; B-cell lymphoma 3-encoded protein; BCL-3; chronic lymphatic leukemia protein; proto-oncogene BCL3

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_052809.1 RefSeqGene

Range

11088..22424

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005178.5 → NP_005169.2 B-cell lymphoma 3 protein

See identical proteins and their annotated locations for NP_005169.2

Status: REVIEWED

Source sequence(s)

AC092066, BC064993, BU501187

Consensus CDS

CCDS12642.2

UniProtKB/Swiss-Prot

P20749

Related

ENSP00000164227.5, ENST00000164227.10

Conserved Domains (2) summary

sd00045
Location:241 → 272

ANK; ANK repeat [structural motif]

cl39094
Location:137 → 334

Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

44747705..44760044

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017027110.2 → XP_016882599.1 B-cell lymphoma 3 protein isoform X2

UniProtKB/TrEMBL

B7Z3N9

Related

ENST00000403534.7

Conserved Domains (4) summary

cd00204
Location:160 → 289

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:170 → 265

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:117 → 172

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:201 → 232

ANK; ANK repeat [structural motif]
XM_011527198.4 → XP_011525500.3 B-cell lymphoma 3 protein isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

47566894..47584794

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321687.1 → XP_054177662.1 B-cell lymphoma 3 protein isoform X4
XM_054321686.1 → XP_054177661.1 B-cell lymphoma 3 protein isoform X3
XM_054321688.1 → XP_054177663.1 B-cell lymphoma 3 protein isoform X5
XM_054321692.1 → XP_054177667.1 B-cell lymphoma 3 protein isoform X2

UniProtKB/TrEMBL

B7Z3N9
XM_054321689.1 → XP_054177664.1 B-cell lymphoma 3 protein isoform X6
XM_054321690.1 → XP_054177665.1 B-cell lymphoma 3 protein isoform X7
XM_054321691.1 → XP_054177666.1 B-cell lymphoma 3 protein isoform X8