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BBC3 (BCL2 binding component 3)

Identity

Other namesPUMA (p53-upregulated modulator of apoptosis)
JFY1
HGNC BBC3
Location 19q13.3-q13.4
Location_base_pair Starts at 52415921 and ends at 52427863 bp from pter (hg18-Mar_2006).

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
    HGNCBBC3   17868
    Entrez_GeneBBC3  27113  BCL2 binding component 3
    Cards
    AtlasBBC3ID759ch19q13
    GeneCardsBBC3
    EnsemblBBC3 [Search_View]   ENSG00000105327 [Gene_View]
    GenatlasBBC3
    GeneLynxBBC3
    eGenomeBBC3
    euGene27113
    Genomic and cartography
    GoldenPathBBC3  -     chr19:52415921-52427863 -  19q13.3-q13.4   [Description]    (hg18-Mar_2006)
    EnsemblBBC3 - 19q13.3-q13.4 [CytoView]
    NCBIMapview
    OMIMDisease map [OMIM]
    HomoloGeneBBC3
    Gene and transcription
    GenbankAF332558 [ ENTREZ ]
    GenbankAF354654 [ ENTREZ ]
    GenbankAF354655 [ ENTREZ ]
    GenbankAF354656 [ ENTREZ ]
    GenbankU82987 [ ENTREZ ]
    RefSeqNM_001127240 [ SRS ]    NM_001127240 [ ENTREZ ]
    RefSeqNM_001127241 [ SRS ]    NM_001127241 [ ENTREZ ]
    RefSeqNM_001127242 [ SRS ]    NM_001127242 [ ENTREZ ]
    RefSeqNM_014417 [ SRS ]    NM_014417 [ ENTREZ ]
    RefSeqAC_000062 [ SRS ]    AC_000062 [ ENTREZ ]
    RefSeqAC_000151 [ SRS ]    AC_000151 [ ENTREZ ]
    RefSeqNC_000019 [ SRS ]    NC_000019 [ ENTREZ ]
    RefSeqNT_011109 [ SRS ]    NT_011109 [ ENTREZ ]
    RefSeqNW_001838496 [ SRS ]    NW_001838496 [ ENTREZ ]
    RefSeqNW_927217 [ SRS ]    NW_927217 [ ENTREZ ]
    AceViewBBC3 AceView - NCBI
    UnigeneHs.467020 [ SRS ]    Hs.467020 [ NCBI ]     HS467020 [ spliceNest ]
    Fast-db13696 (alternative variants)
    Protein : pattern, domain, 3D structure
    SwissProtQ96PG8 [ SRS]    Q96PG8 [ EXPASY ]     Q96PG8 [ INTERPRO ]     Q96PG8 [ UNIPROT ]
    CluSTrQ96PG8
    BlocksQ96PG8
    HPRD16165
    Protein Interaction databases
    DIPQ96PG8
    IntActQ96PG8
    Polymorphism : SNP, mutations, diseases
    OMIM605854    [ map ]   
    GENECLINICS605854
    SNPBBC3 [dbSNP-NCBI]  
    SNPNM_001127240 [SNP-NCI]  
    SNPNM_001127241 [SNP-NCI]  
    SNPNM_001127242 [SNP-NCI]  
    SNPNM_014417 [SNP-NCI]  
    SNPBBC3 [GeneSNPs - Utah]  BBC3] [HGBASE - SRS]
    HAPMAPBBC3 [HAPMAP]  
    COSMICBBC3 [Somatic mutation (COSMIC-CGP-Sanger)]  
    HGMDBBC3
    General knowledge
    Family BrowserBBC3 [UCSC Family Browser]
    SOURCENM_001127240
    SOURCENM_001127241
    SOURCENM_001127242
    SOURCENM_014417
    SMDHs.467020
    SAGEHs.467020
    GOrelease of cytochrome c from mitochondria [Amigo]  release of cytochrome c from mitochondria
    GOprotein binding [Amigo]  protein binding
    GOmitochondrion [Amigo]  mitochondrion
    GOmitochondrial outer membrane [Amigo]  mitochondrial outer membrane
    GOinduction of apoptosis [Amigo]  induction of apoptosis
    GOcaspase activation [Amigo]  caspase activation
    GODNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis [Amigo]  DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis
    GOnegative regulation of growth [Amigo]  negative regulation of growth
    PubGeneBBC3
    TreeFamBBC3
    CTD27113 [Comparative ToxicoGenomics Database]
    Other databases
    Probes
    ProbeBBC3 Related clones (RZPD - Berlin)
    PubMed
    PubMed36 Pubmed reference(s) in Entrez

    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. August 2004 .
    URL : http://AtlasGeneticsOncology.org/Genes/BBC3ID759ch19q13.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Sat Oct 11 12:48:44 2008


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