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    BCL3 B-cell CLL/lymphoma 3 [ Homo sapiens (human) ]

    Gene ID: 602, updated on 6-Aug-2017
    Official Symbol
    BCL3provided by HGNC
    Official Full Name
    B-cell CLL/lymphoma 3provided by HGNC
    Primary source
    HGNC:HGNC:998
    See related
    Ensembl:ENSG00000069399 MIM:109560; Vega:OTTHUMG00000151517
    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]
    Orthologs
    Location:
    19q13.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (44742621..44760044)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45246070..45263301)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985305 Neighboring gene uncharacterized LOC107985306 Neighboring gene carcinoembryonic antigen related cell adhesion molecule 16 Neighboring gene microRNA 8085 Neighboring gene Cbl proto-oncogene C Neighboring gene basal cell adhesion molecule (Lutheran blood group)

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding, bridging TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    I-kappaB kinase/NF-kappaB signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T-helper 1 type immune response IEA
    Inferred from Electronic Annotation
    more info
     
    T-helper 2 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    antimicrobial humoral response IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    follicular dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    germinal center formation IEA
    Inferred from Electronic Annotation
    more info
     
    humoral immune response mediated by circulating immunoglobulin IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maintenance of protein location in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    marginal zone B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of JAK-STAT cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interleukin-8 biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of tumor necrosis factor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-10 biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein import into nucleus, translocation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of DNA binding IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    regulation of NF-kappaB import into nucleus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to UV-C IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Bcl3-Bcl10 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Bcl3/NF-kappaB2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    midbody IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    B-cell lymphoma 3 protein
    Names
    B-cell leukemia/lymphoma 3
    B-cell lymphoma 3-encoded protein
    BCL-3
    chronic lymphatic leukemia protein
    proto-oncogene BCL3

    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_052809.1 RefSeqGene

      Range
      11101..22424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005178.4NP_005169.2  B-cell lymphoma 3 protein

      See identical proteins and their annotated locations for NP_005169.2

      Status: REVIEWED

      Source sequence(s)
      BC064993, BU501187
      Consensus CDS
      CCDS12642.2
      UniProtKB/Swiss-Prot
      P20749
      Related
      ENSP00000164227.5, OTTHUMP00000200151, ENST00000164227.9, OTTHUMT00000322976
      Conserved Domains (4) summary
      cd00204
      Location:237359
      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:210305
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:157212
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:241272
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      44742621..44760044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527198.2XP_011525500.2  B-cell lymphoma 3 protein isoform X2

    2. XM_011527197.2XP_011525499.2  B-cell lymphoma 3 protein isoform X1

    3. XM_017027110.1XP_016882599.1  B-cell lymphoma 3 protein isoform X5

      UniProtKB/TrEMBL
      B7Z3N9
      Conserved Domains (4) summary
      cd00204
      Location:160289
      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:170265
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:117172
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:201232
      ANK; ANK repeat [structural motif]
    4. XM_017027109.1XP_016882598.1  B-cell lymphoma 3 protein isoform X3

    5. XM_011527200.2XP_011525502.1  B-cell lymphoma 3 protein isoform X4

      Related
      ENSP00000393731.1, OTTHUMP00000200152, ENST00000444487.1, OTTHUMT00000322980
      Conserved Domains (4) summary
      cd00204
      Location:104233
      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:114209
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:61116
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:145176
      ANK; ANK repeat [structural motif]

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      45254671..45265984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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