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BBC3 (BCL2 binding component 3)

Identity

Other namesPUMA (p53-upregulated modulator of apoptosis)
JFY1
HGNC (Hugo) BBC3
LocusID (NCBI) 27113
Location 19q13.32
Location_base_pair Starts at 47724079 and ends at 47736023 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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), MCL1 (1q21) HOMOLOGY
  • The proapoptotic members with BH 1 to 3 domains: BAK1/BCL2L7 (6p21), BAX (19q13), (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.
      

    External links

    Nomenclature
    HGNC (Hugo)BBC3   17868
    Cards
    AtlasBBC3ID759ch19q13
    Entrez_Gene (NCBI)BBC3  27113  BCL2 binding component 3
    GeneCards (Weizmann)BBC3
    Ensembl (Hinxton)ENSG00000105327 [Gene_View]  chr19:47724079-47736023 [Contig_View]  BBC3 [Vega]
    ICGC DataPortalENSG00000105327
    cBioPortalBBC3
    AceView (NCBI)BBC3
    Genatlas (Paris)BBC3
    WikiGenes27113
    SOURCE (Princeton)NM_001127240 NM_001127241 NM_001127242 NM_014417
    Genomic and cartography
    GoldenPath (UCSC)BBC3  -  19q13.32   chr19:47724079-47736023 -  19q13.3-q13.4   [Description]    (hg19-Feb_2009)
    EnsemblBBC3 - 19q13.3-q13.4 [CytoView]
    Mapping of homologs : NCBIBBC3 [Mapview]
    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)AC_000151 NC_000019 NC_018930 NG_031991 NT_011109 NW_001838496 NW_004929415
    Consensus coding sequences : CCDS (NCBI)BBC3
    Cluster EST : UnigeneHs.467020 [ NCBI ]
    CGAP (NCI)Hs.467020
    Alternative Splicing : Fast-db (Paris)GSHG0015949
    Alternative Splicing GalleryENSG00000105327
    Gene ExpressionBBC3 [ NCBI-GEO ]     BBC3 [ SEEK ]   BBC3 [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9BXH1 (Uniprot)
    NextProtQ9BXH1  [Medical]
    With graphics : InterProQ9BXH1
    Splice isoforms : SwissVarQ9BXH1 (Swissvar)
    Domaine pattern : Prosite (Expaxy)BH3 (PS01259)   
    Related proteins : CluSTrQ9BXH1
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    DMDM Disease mutations27113
    Blocks (Seattle)Q9BXH1
    PDB (SRS)2M04    4HNJ   
    PDB (PDBSum)2M04    4HNJ   
    PDB (IMB)2M04    4HNJ   
    PDB (RSDB)2M04    4HNJ   
    Human Protein AtlasENSG00000105327 [gene] [tissue] [antibody] [cell] [cancer]
    Peptide AtlasQ9BXH1
    HPRD16165
    IPIIPI00186516   IPI00004338   IPI00895857   IPI00044436   IPI00982382   
    Protein Interaction databases
    DIP (DOE-UCLA)Q9BXH1
    IntAct (EBI)Q9BXH1
    FunCoupENSG00000105327
    BioGRIDBBC3
    InParanoidQ9BXH1
    Interologous Interaction database Q9BXH1
    IntegromeDBBBC3
    STRING (EMBL)BBC3
    Ontologies - Pathways
    Ontology : AmiGOrelease of cytochrome c from mitochondria  protein binding  mitochondrion  mitochondrion  mitochondrial outer membrane  cytosol  apoptotic process  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cellular response to DNA damage stimulus  determination of adult lifespan  positive regulation of protein homooligomerization  negative regulation of endoplasmic reticulum calcium ion concentration  response to endoplasmic reticulum stress  positive regulation of neuron apoptotic process  negative regulation of growth  release of sequestered calcium ion into cytosol  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  positive regulation of thymocyte apoptotic process  cellular response to hypoxia  positive regulation of release of cytochrome c from mitochondria  positive regulation of release of cytochrome c from mitochondria  apoptotic signaling pathway  intrinsic apoptotic signaling pathway  execution phase of apoptosis  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  positive regulation of cysteine-type endopeptidase activity  positive regulation of intrinsic apoptotic signaling pathway  positive regulation of intrinsic apoptotic signaling pathway  
    Ontology : EGO-EBIrelease of cytochrome c from mitochondria  protein binding  mitochondrion  mitochondrion  mitochondrial outer membrane  cytosol  apoptotic process  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cellular response to DNA damage stimulus  determination of adult lifespan  positive regulation of protein homooligomerization  negative regulation of endoplasmic reticulum calcium ion concentration  response to endoplasmic reticulum stress  positive regulation of neuron apoptotic process  negative regulation of growth  release of sequestered calcium ion into cytosol  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  positive regulation of thymocyte apoptotic process  cellular response to hypoxia  positive regulation of release of cytochrome c from mitochondria  positive regulation of release of cytochrome c from mitochondria  apoptotic signaling pathway  intrinsic apoptotic signaling pathway  execution phase of apoptosis  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  positive regulation of cysteine-type endopeptidase activity  positive regulation of intrinsic apoptotic signaling pathway  positive regulation of intrinsic apoptotic signaling pathway  
    Pathways : KEGGp53 signaling pathway    Hippo signaling pathway    Huntington's disease    Measles   
    Protein Interaction DatabaseBBC3
    Wikipedia pathwaysBBC3
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)BBC3
    snp3D : Map Gene to Disease27113
    SNP (GeneSNP Utah)BBC3
    SNP : HGBaseBBC3
    Genetic variants : HAPMAPBBC3
    Exome VariantBBC3
    1000_GenomesBBC3 
    ICGC programENSG00000105327 
    Somatic Mutations in Cancer : COSMICBBC3 
    CONAN: Copy Number AnalysisBBC3 
    Mutations and Diseases : HGMDBBC3
    Genomic VariantsBBC3  BBC3 [DGVbeta]
    dbVarBBC3
    ClinVarBBC3
    Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
    Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
    Diseases
    OMIM605854   
    MedgenBBC3
    GENETestsBBC3
    Disease Genetic AssociationBBC3
    Huge Navigator BBC3 [HugePedia]  BBC3 [HugeCancerGEM]
    General knowledge
    Homologs : HomoloGeneBBC3
    Homology/Alignments : Family Browser (UCSC)BBC3
    Phylogenetic Trees/Animal Genes : TreeFamBBC3
    Chemical/Protein Interactions : CTD27113
    Chemical/Pharm GKB GenePA38471
    Clinical trialBBC3
    Cancer Resource (Charite)ENSG00000105327
    Other databases
    Probes
    Litterature
    PubMed116 Pubmed reference(s) in Entrez
    CoreMineBBC3
    iHOPBBC3

    Bibliography

    PUMA, a novel proapoptotic gene, is induced by p53.
    Nakano K, Vousden KH
    Molecular cell. 2001 ; 7 (3) : 683-694.
    PMID 11463392
     
    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
     
    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
     
    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
     
    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
     
    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, Kgel D, Rami A, Chittenden T, Prehn JH
    The Journal of cell biology. 2003 ; 162 (4) : 587-597.
    PMID 12913114
     
    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
     
    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
     
    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
     
    Control of proliferation by Bcl-2 family members.
    Bonnefoy-Berard N, Aouacheria A, Verschelde C, Quemeneur L, Marais A, Marvel J
    Biochimica et biophysica acta. 2004 ; 1644 (2-3) : 159-168.
    PMID 14996500
     
    Bcl-2 family members and disease.
    Sorenson CM
    Biochimica et biophysica acta. 2004 ; 1644 (2-3) : 169-177.
    PMID 14996501
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    Contributor(s)

    Written08-2004Jean-Loup Huret, Sylvie Senon

    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 online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Genes/BBC3ID759ch19q13.html

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    indexed on : Fri Jul 11 17:11:22 CEST 2014
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