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BBC3 (BCL2 binding component 3)

Identity

Other namesPUMA (p53-upregulated modulator of apoptosis)
JFY1
HGNC (Hugo) BBC3
Location 19q13.3-q13.4
Location_base_pair Starts at 47724081 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
    Entrez_Gene (NCBI)BBC3  27113  BCL2 binding component 3
    Cards
    AtlasBBC3ID759ch19q13
    GeneCards (Weizmann)BBC3
    Ensembl (Hinxton)ENSG00000105327 [Gene_View]  BBC3 [Vega]
    AceView (NCBI)BBC3
    Genatlas (Paris)BBC3
    euGene (Indiana)27113
    SOURCE (Stanford)NM_001127240 NM_001127241 NM_001127242 NM_014417
    Gene Expression (Array Express) ENSG00000105327
    Genomic and cartography
    GoldenPath (UCSC)BBC3  -     chr19:47724081-47736023 -  19q13.3-q13.4   [Description]    (hg19-Feb_2009)
    EnsemblBBC3 - 19q13.3-q13.4 [CytoView]
    Mapping of homologs : NCBIBBC3 [Mapview]
    OMIM605854   
    Gene and transcription
    Gene : Genbank (Entrez)AF332558 AF354654 AF354655 AF354656 AK124984
    Reference sequence (RefSeq transcript) :SRSNM_001127240 NM_001127241 NM_001127242 NM_014417
    Reference transcript : EntrezNM_001127240 NM_001127241 NM_001127242 NM_014417
    RefSeq genomic : SRSAC_000062 AC_000151 NC_000019 NT_011109 NW_001838496 NW_927217
    RefSeq genomic : EntrezAC_000062 AC_000151 NC_000019 NT_011109 NW_001838496 NW_927217
    Consensus coding sequences : CCDS NCBIBBC3
    Cluster EST : UnigeneHs.467020 [ SRS ] Hs.467020 [ NCBI ]
    Alternative Splicing : Fast-db (Paris)13696
    Protein : pattern, domain, 3D structure
    Protein : UniProt/SwissProtQ9BXH1 (SRS) Q9BXH1 (Expasy) Q9BXH1 (Uniprot)
    With graphics : InterProQ9BXH1
    Splice isoforms : VarSplice FASTAQ9BXH1(VarSplice FASTA)
    Domaine pattern : Prosite (SRS)BH3 (PS01259)   
    Domain pattern : Prosite (Expaxy)BH3 (PS01259)   
    Related proteins : CluSTrQ9BXH1
    Domain families : Pfam SRS
    Domain families : Pfam Sanger
    Domain families : Pfam NCBI
    Blocks (Seattle)Q9BXH1
    Crystal structure of protein : PDB SRS
    Crystal structure of protein : PDBSum
    Crystal structure of protein : IMB
    Crystal structure of protein : PDB RSDB
    Human Protein AtlasENSG00000105327
    HPRD16165
    Protein Interaction databases
    DIP (DOE-UCLA)Q9BXH1
    IntAct (EBI)Q9BXH1
    FunCoupENSG00000105327
    Polymorphism : SNP, mutations, diseases
    Single Nucleotide Polymorphism (SNP) : dbSNP NCBIBBC3
    SNP : GeneSNP UtahBBC3
    SNP : HGBaseBBC3
    Genetic variants : HAPMAPBBC3
    Somatic Mutations in Cancer : COSMICBBC3 
    Mutations and Diseases : HGMDBBC3
    Hereditary diseases : OMIM605854   
    Hereditary diseases : GENETests605854   
    Diseases : Genetic AssociationBBC3
    General knowledge
    Homologs : HomoloGeneBBC3
    Homology/Alignments : Family Browser UCSCBBC3
    Phylogenetic Trees/Animal Genes : TreeFamBBC3
    Chemical/Protein Interactions : CTD27113
    Keywords Ontology : AmiGOrelease of cytochrome c from mitochondria  protein binding  mitochondrion  mitochondrial outer membrane  apoptosis  induction of apoptosis  activation of caspase activity  negative regulation of growth  
    Keywords Ontology : EGO-EBIrelease of cytochrome c from mitochondria  protein binding  mitochondrion  mitochondrial outer membrane  apoptosis  induction of apoptosis  activation of caspase activity  negative regulation of growth  
    Pathways : BIOCARTA
    Pathways : KEGG
    Other databases
    Probes
    Probes : ImagenesBBC3 Related clones (RZPD - Berlin)
    Literature
    PubMed61 Pubmed reference(s) in Entrez
    PubGeneBBC3

    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

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    indexed on : Thu Jul 15 14:48:09 CEST 2010
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