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BBC3 (BCL2 binding component 3)

Written2004-08Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


Alias_symbol (synonym)JFY1
Other aliasPUMA (p53-upregulated modulator of apoptosis)
HGNC (Hugo) BBC3
LocusID (NCBI) 27113
Atlas_Id 759
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 47220822 and ends at 47231194 bp from pter ( according to hg19-Feb_2009)  [Mapping BBC3.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BBC3 (19q13.32) / BBC3 (19q13.32)COL6A3 (2q37.3) / BBC3 (19q13.32)


Description The gene spans 12kb on the reverse strand; 8 exons
Transcription numerous transcripts


Description multiple isoforms; BH3 only protein (the BH3 domain is essential for proapoptotic function).
Expression wide
Localisation mitochondria
Function BBC3 is transcriptionally induced upon diverse apoptotic stimuli to induce apoptosis via the mitochondrial apoptotic pathway. BBC3 is transcriptionally activated by p53; it is also upregulated after endoplasmic reticulum stress, independantly to P53 status. BBC3 is also transactvated by p73, a p53 related protein with, also, G1 cell cycle arrest and apoptosis functions. BBC3 induces BAX conformational change and multimerization.
Homology Bcl2 family members:
  • The antiapoptotic members with BH 1 to 4 domains: BCL2 (18q21), BCL1L1/BCLX-L ID: n129> (20q11), BCL2L2/BCL-W (14q11), BCL1L10/BCL-B/BOO/DIVA (15q21), BCL2A1/BFL1/A1 (15q24), BNIP1/EIB-19K (5q33), (1q21)
  • The proapoptotic members with BH 1 to 3 domains: BAK1/BCL2L7 (6p21), BAX (19q13), BCL2L13/BCL-Rambo/MIL1 ID: n236> (22q11), (2q37)
  • The only-BH3 apoptotic members: BAD/BCL2L8/BBC2 (11q13), BCL2L11/BIM/BOD (2q13), BID (22q11), BIK/NBK/BBC1 (22q13), BLK (8p23), BMF (15q14), BNIP3/NIP3 (10q26), BMIP3L/NIX (8p21), HRK/DP5/BID3 (12q24), PMAIP1/NOXA (18q21)
  • Implicated in

    Note BBC3 mediates apoptosis in various cancer cells.


    Control of proliferation by Bcl-2 family members.
    Bonnefoy-Berard N, Aouacheria A, Verschelde C, Quemeneur L, Marçais A, Marvel J
    Biochimica et biophysica acta. 2004 ; 1644 (2-3) : 159-168.
    PMID 14996500
    Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals.
    Han J, Flemington C, Houghton AB, Gu Z, Zambetti GP, Lutz RJ, Zhu L, Chittenden T
    Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (20) : 11318-11323.
    PMID 11572983
    Bax conformational change is a crucial step for PUMA-mediated apoptosis in human leukemia.
    Liu FT, Newland AC, Jia L
    Biochemical and biophysical research communications. 2003 ; 310 (3) : 956-962.
    PMID 14550297
    p73 Induces apoptosis via PUMA transactivation and Bax mitochondrial translocation.
    Melino G, Bernassola F, Ranalli M, Yee K, Zong WX, Corazzari M, Knight RA, Green DR, Thompson C, Vousden KH
    The Journal of biological chemistry. 2004 ; 279 (9) : 8076-8083.
    PMID 14634023
    PUMA, a novel proapoptotic gene, is induced by p53.
    Nakano K, Vousden KH
    Molecular cell. 2001 ; 7 (3) : 683-694.
    PMID 11463392
    Structural biology of the Bcl-2 family of proteins.
    Petros AM, Olejniczak ET, Fesik SW
    Biochimica et biophysica acta. 2004 ; 1644 (2-3) : 83-94.
    PMID 14996493
    Gene expression during ER stress-induced apoptosis in neurons: induction of the BH3-only protein Bbc3/PUMA and activation of the mitochondrial apoptosis pathway.
    Reimertz C, Kögel D, Rami A, Chittenden T, Prehn JH
    The Journal of cell biology. 2003 ; 162 (4) : 587-597.
    PMID 12913114
    Bcl-2 family members: integrators of survival and death signals in physiology and pathology [corrected].
    Schinzel A, Kaufmann T, Borner C
    Biochimica et biophysica acta. 2004 ; 1644 (2-3) : 95-105.
    PMID 14996494
    Bcl-2 family members and disease.
    Sorenson CM
    Biochimica et biophysica acta. 2004 ; 1644 (2-3) : 169-177.
    PMID 14996501
    The voltage-dependent anion channel: an essential player in apoptosis.
    Tsujimoto Y, Shimizu S
    Biochimie. 2002 ; 84 (2-3) : 187-193.
    PMID 12022949
    PUMA mediates the apoptotic response to p53 in colorectal cancer cells.
    Yu J, Wang Z, Kinzler KW, Vogelstein B, Zhang L
    Proceedings of the National Academy of Sciences of the United States of America. 2003 ; 100 (4) : 1931-1936.
    PMID 12574499
    PUMA induces the rapid apoptosis of colorectal cancer cells.
    Yu J, Zhang L, Hwang PM, Kinzler KW, Vogelstein B
    Molecular cell. 2001 ; 7 (3) : 673-682.
    PMID 11463391


    This paper should be referenced as such :
    Huret, JL ; Senon, S
    BBC3 (BCL2 binding component 3)
    Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):278-279.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    External links

    HGNC (Hugo)BBC3   17868
    Entrez_Gene (NCBI)BBC3  27113  BCL2 binding component 3
    AliasesJFY-1; JFY1; PUMA
    GeneCards (Weizmann)BBC3
    Ensembl hg19 (Hinxton)ENSG00000105327 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000105327 [Gene_View]  ENSG00000105327 [Sequence]  chr19:47220822-47231194 [Contig_View]  BBC3 [Vega]
    ICGC DataPortalENSG00000105327
    TCGA cBioPortalBBC3
    AceView (NCBI)BBC3
    Genatlas (Paris)BBC3
    SOURCE (Princeton)BBC3
    Genetics Home Reference (NIH)BBC3
    Genomic and cartography
    GoldenPath hg38 (UCSC)BBC3  -     chr19:47220822-47231194 -  19q13.32   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)BBC3  -     19q13.32   [Description]    (hg19-Feb_2009)
    EnsemblBBC3 - 19q13.32 [CytoView hg19]  BBC3 - 19q13.32 [CytoView hg38]
    Mapping of homologs : NCBIBBC3 [Mapview hg19]  BBC3 [Mapview hg38]
    Gene and transcription
    Genbank (Entrez)AA887822 AF332558 AF354654 AF354655 AF354656
    RefSeq transcript (Entrez)NM_001127240 NM_001127241 NM_001127242 NM_014417
    RefSeq genomic (Entrez)
    Consensus coding sequences : CCDS (NCBI)BBC3
    Cluster EST : UnigeneHs.467020 [ NCBI ]
    CGAP (NCI)Hs.467020
    Alternative Splicing GalleryENSG00000105327
    Gene ExpressionBBC3 [ NCBI-GEO ]   BBC3 [ EBI - ARRAY_EXPRESS ]   BBC3 [ SEEK ]   BBC3 [ MEM ]
    Gene Expression Viewer (FireBrowse)BBC3 [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)27113
    GTEX Portal (Tissue expression)BBC3
    Human Protein AtlasENSG00000105327-BBC3 [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9BXH1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtQ9BXH1  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProQ9BXH1
    Splice isoforms : SwissVarQ9BXH1
    Domains : Interpro (EBI)Bbc3   
    Domain families : Pfam (Sanger)PUMA (PF15826)   
    Domain families : Pfam (NCBI)pfam15826   
    Conserved Domain (NCBI)BBC3
    DMDM Disease mutations27113
    Blocks (Seattle)BBC3
    PDB (SRS)2M04    4BPI    4BPJ    4BPK    4HNJ   
    PDB (PDBSum)2M04    4BPI    4BPJ    4BPK    4HNJ   
    PDB (IMB)2M04    4BPI    4BPJ    4BPK    4HNJ   
    PDB (RSDB)2M04    4BPI    4BPJ    4BPK    4HNJ   
    Structural Biology KnowledgeBase2M04    4BPI    4BPJ    4BPK    4HNJ   
    SCOP (Structural Classification of Proteins)2M04    4BPI    4BPJ    4BPK    4HNJ   
    CATH (Classification of proteins structures)2M04    4BPI    4BPJ    4BPK    4HNJ   
    Human Protein Atlas [tissue]ENSG00000105327-BBC3 [tissue]
    Peptide AtlasQ9BXH1
    IPIIPI00186516   IPI00004338   IPI00895857   IPI00044436   IPI00982382   
    Protein Interaction databases
    IntAct (EBI)Q9BXH1
    Ontologies - Pathways
    Ontology : AmiGOprotein binding  mitochondrion  lysosome  apoptotic process  ATPase binding  positive regulation of release of cytochrome c from mitochondria  intrinsic apoptotic signaling pathway  
    Ontology : EGO-EBIprotein binding  mitochondrion  lysosome  apoptotic process  ATPase binding  positive regulation of release of cytochrome c from mitochondria  intrinsic apoptotic signaling pathway  
    REACTOMEQ9BXH1 [protein]
    REACTOME PathwaysR-HSA-6803204 [pathway]   
    NDEx NetworkBBC3
    Atlas of Cancer Signalling NetworkBBC3
    Wikipedia pathwaysBBC3
    Orthology - Evolution
    GeneTree (enSembl)ENSG00000105327
    Phylogenetic Trees/Animal Genes : TreeFamBBC3
    Homologs : HomoloGeneBBC3
    Homology/Alignments : Family Browser (UCSC)BBC3
    Gene fusions - Rearrangements
    Fusion : QuiverBBC3
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerBBC3 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)BBC3
    Exome Variant ServerBBC3
    ExAC (Exome Aggregation Consortium)ENSG00000105327
    GNOMAD BrowserENSG00000105327
    Genetic variants : HAPMAP27113
    Genomic Variants (DGV)BBC3 [DGVbeta]
    DECIPHERBBC3 [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisBBC3 
    ICGC Data PortalBBC3 
    TCGA Data PortalBBC3 
    Broad Tumor PortalBBC3
    OASIS PortalBBC3 [ Somatic mutations - Copy number]
    Somatic Mutations in Cancer : COSMICBBC3  [overview]  [genome browser]  [tissue]  [distribution]  
    Mutations and Diseases : HGMDBBC3
    LOVD (Leiden Open Variation Database)Whole genome datasets
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    BioMutasearch BBC3
    DgiDB (Drug Gene Interaction Database)BBC3
    DoCM (Curated mutations)BBC3 (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)BBC3 (select a term)
    NCG5 (London)BBC3
    Cancer3DBBC3(select the gene name)
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Genetic Testing Registry BBC3
    NextProtQ9BXH1 [Medical]
    Target ValidationBBC3
    Huge Navigator BBC3 [HugePedia]
    snp3D : Map Gene to Disease27113
    BioCentury BCIQBBC3
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD27113
    Chemical/Pharm GKB GenePA38471
    Clinical trialBBC3
    canSAR (ICR)BBC3 (select the gene name)
    PubMed183 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Fri Jun 22 17:01:02 CEST 2018

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