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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)

Identity

Alias_symbol (synonym)JFY1
PUMA
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)

DNA/RNA

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

Protein

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
    Note BBC3 mediates apoptosis in various cancer cells.
      

    Bibliography

    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
     

    Citation

    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 : http://AtlasGeneticsOncology.org/Genes/BBC3ID759ch19q13.html

    External links

    Nomenclature
    HGNC (Hugo)BBC3   17868
    Cards
    AtlasBBC3ID759ch19q13
    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
    WikiGenes27113
    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]
    OMIM605854   
    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
    PhosPhoSitePlusQ9BXH1
    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    5UUL   
    PDB (PDBSum)2M04    4BPI    4BPJ    4BPK    4HNJ    5UUL   
    PDB (IMB)2M04    4BPI    4BPJ    4BPK    4HNJ    5UUL   
    PDB (RSDB)2M04    4BPI    4BPJ    4BPK    4HNJ    5UUL   
    Structural Biology KnowledgeBase2M04    4BPI    4BPJ    4BPK    4HNJ    5UUL   
    SCOP (Structural Classification of Proteins)2M04    4BPI    4BPJ    4BPK    4HNJ    5UUL   
    CATH (Classification of proteins structures)2M04    4BPI    4BPJ    4BPK    4HNJ    5UUL   
    SuperfamilyQ9BXH1
    Human Protein Atlas [tissue]ENSG00000105327-BBC3 [tissue]
    Peptide AtlasQ9BXH1
    HPRD16165
    IPIIPI00186516   IPI00004338   IPI00895857   IPI00044436   IPI00982382   
    Protein Interaction databases
    DIP (DOE-UCLA)Q9BXH1
    IntAct (EBI)Q9BXH1
    FunCoupENSG00000105327
    BioGRIDBBC3
    STRING (EMBL)BBC3
    ZODIACBBC3
    Ontologies - Pathways
    QuickGOQ9BXH1
    Ontology : AmiGOrelease of cytochrome c from mitochondria  protein binding  mitochondrion  mitochondrion  lysosome  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of apoptotic process  ATPase binding  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  positive regulation of release of cytochrome c from mitochondria  execution phase of apoptosis  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  positive regulation of cysteine-type endopeptidase activity  
    Ontology : EGO-EBIrelease of cytochrome c from mitochondria  protein binding  mitochondrion  mitochondrion  lysosome  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of apoptotic process  ATPase binding  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  positive regulation of release of cytochrome c from mitochondria  execution phase of apoptosis  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  positive regulation of cysteine-type endopeptidase activity  
    Pathways : KEGGp53 signaling pathway    Hippo signaling pathway    Huntington's disease    Measles   
    REACTOMEQ9BXH1 [protein]
    REACTOME PathwaysR-HSA-6803204 [pathway]   
    NDEx NetworkBBC3
    Atlas of Cancer Signalling NetworkBBC3
    Wikipedia pathwaysBBC3
    Orthology - Evolution
    OrthoDB27113
    GeneTree (enSembl)ENSG00000105327
    Phylogenetic Trees/Animal Genes : TreeFamBBC3
    HOVERGENQ9BXH1
    HOGENOMQ9BXH1
    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
    dbVarBBC3
    ClinVarBBC3
    1000_GenomesBBC3 
    Exome Variant ServerBBC3
    ExAC (Exome Aggregation Consortium)ENSG00000105327
    GNOMAD BrowserENSG00000105327
    Varsome BrowserBBC3
    Genetic variants : HAPMAP27113
    Genomic Variants (DGV)BBC3 [DGVbeta]
    DECIPHERBBC3 [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisBBC3 
    Mutations
    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)
    intoGenBBC3
    NCG5 (London)BBC3
    Cancer3DBBC3(select the gene name)
    Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM605854   
    Orphanet
    DisGeNETBBC3
    MedgenBBC3
    Genetic Testing Registry BBC3
    NextProtQ9BXH1 [Medical]
    TSGene27113
    GENETestsBBC3
    Target ValidationBBC3
    Huge Navigator BBC3 [HugePedia]
    snp3D : Map Gene to Disease27113
    BioCentury BCIQBBC3
    ClinGenBBC3
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD27113
    Chemical/Pharm GKB GenePA38471
    Clinical trialBBC3
    Miscellaneous
    canSAR (ICR)BBC3 (select the gene name)
    Probes
    Litterature
    PubMed200 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineBBC3
    EVEXBBC3
    GoPubMedBBC3
    iHOPBBC3
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    indexed on : Mon Dec 10 13:42:20 CET 2018
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