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Q9BXH1

- BBC3_HUMAN

UniProt

Q9BXH1 - BBC3_HUMAN

Protein

Bcl-2-binding component 3

Gene

BBC3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Functions by promoting partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ER stress-induced neuronal apoptosis.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. activation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
    2. apoptotic process Source: Reactome
    3. apoptotic signaling pathway Source: UniProtKB
    4. cellular response to DNA damage stimulus Source: BHF-UCL
    5. cellular response to hypoxia Source: UniProtKB
    6. determination of adult lifespan Source: BHF-UCL
    7. execution phase of apoptosis Source: UniProtKB
    8. intrinsic apoptotic signaling pathway Source: Reactome
    9. intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: UniProtKB
    10. negative regulation of endoplasmic reticulum calcium ion concentration Source: UniProtKB
    11. negative regulation of growth Source: UniProtKB
    12. positive regulation of cysteine-type endopeptidase activity Source: UniProtKB
    13. positive regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
    14. positive regulation of neuron apoptotic process Source: UniProtKB
    15. positive regulation of protein homooligomerization Source: UniProtKB
    16. positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway Source: UniProtKB
    17. positive regulation of release of cytochrome c from mitochondria Source: UniProtKB
    18. positive regulation of thymocyte apoptotic process Source: BHF-UCL
    19. release of cytochrome c from mitochondria Source: UniProtKB
    20. release of sequestered calcium ion into cytosol Source: UniProtKB
    21. response to endoplasmic reticulum stress Source: UniProtKB

    Keywords - Biological processi

    Apoptosis

    Enzyme and pathway databases

    ReactomeiREACT_121. Activation of PUMA and translocation to mitochondria.
    REACT_330. BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bcl-2-binding component 3
    Alternative name(s):
    JFY-1
    p53 up-regulated modulator of apoptosis
    Gene namesi
    Name:BBC3
    Synonyms:PUMA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:17868. BBC3.

    Subcellular locationi

    Mitochondrion 3 Publications
    Note: Localized to the mitochondria in order to induce cytochrome c release.

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. mitochondrial outer membrane Source: Reactome
    3. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi133 – 1331W → A: Impairs p53/TP53-dependent apoptosis. 1 Publication

    Organism-specific databases

    PharmGKBiPA38471.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 193193Bcl-2-binding component 3PRO_0000143083Add
    BLAST

    Proteomic databases

    MaxQBiQ9BXH1.
    PaxDbiQ9BXH1.
    PRIDEiQ9BXH1.

    PTM databases

    PhosphoSiteiQ9BXH1.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed.1 Publication

    Inductioni

    By DNA damage, glucocorticoid treatment, growth factor deprivation and p53. By ER stress in a DDIT3/CHOP-dependent manner.3 Publications

    Gene expression databases

    ArrayExpressiQ9BXH1.
    BgeeiQ9BXH1.
    CleanExiHS_BBC3.
    GenevestigatoriQ9BXH1.

    Organism-specific databases

    HPAiCAB007752.

    Interactioni

    Subunit structurei

    Interacts with MCL1 and BCL2A1 By similarity. Interacts with BCL2 and BCL2L1/BCL-XL.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BCL2P104155EBI-519884,EBI-77694
    BCL2L1Q07817-17EBI-519884,EBI-287195
    BCL2L2Q928432EBI-519884,EBI-707714
    MCL1Q078203EBI-519884,EBI-1003422
    Mcl1P972875EBI-519884,EBI-707292From a different organism.

    Protein-protein interaction databases

    BioGridi118009. 4 interactions.
    DIPiDIP-29215N.
    IntActiQ9BXH1. 9 interactions.
    MINTiMINT-6629069.
    STRINGi9606.ENSP00000404503.

    Structurei

    Secondary structure

    1
    193
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi138 – 1414
    Helixi145 – 1484

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2M04NMR-B130-154[»]
    4BPIX-ray1.98B136-152[»]
    4BPJX-ray1.60D139-153[»]
    4BPKX-ray1.76C/D134-152[»]
    4HNJX-ray2.90C130-154[»]
    ProteinModelPortaliQ9BXH1.
    SMRiQ9BXH1. Positions 130-155.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi137 – 15115BH3Add
    BLAST

    Domaini

    The BH3 motif is intrinsically disordered.1 Publication

    Sequence similaritiesi

    Belongs to the Bcl-2 family.Curated

    Phylogenomic databases

    eggNOGiprNOG22537.
    HOGENOMiHOG000060256.
    HOVERGENiHBG050671.
    InParanoidiQ9BXH1.
    KOiK10132.
    PhylomeDBiQ9BXH1.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BXH1-1) [UniParc]FASTAAdd to Basket

    Also known as: PUMA alpha

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MARARQEGSS PEPVEGLARD GPRPFPLGRL VPSAVSCGLC EPGLAAAPAA    50
    PTLLPAAYLC APTAPPAVTA ALGGSRWPGG PRSRPRGPRP DGPQPSLSLA 100
    EQHLESPVPS APGALAGGPT QAAPGVRGEE EQWAREIGAQ LRRMADDLNA 150
    QYERRRQEEQ QRHRPSPWRV LYNLIMGLLP LPRGHRAPEM EPN 193
    Length:193
    Mass (Da):20,532
    Last modified:June 1, 2001 - v1
    Checksum:i3585527F1858A4FA
    GO
    Isoform 2 (identifier: Q9BXH1-2) [UniParc]FASTAAdd to Basket

    Also known as: PUMA beta

    The sequence of this isoform differs from the canonical sequence as follows:
         1-92: MARARQEGSS...SRPRGPRPDG → MKFGMGSAQACPCQVPRAASTTWVPCQICG

    Show »
    Length:131
    Mass (Da):14,459
    Checksum:i674939670238F4AC
    GO
    Isoform 3 (identifier: Q96PG8-1) [UniParc]FASTAAdd to Basket

    Also known as: PUMA delta

    The sequence of this isoform can be found in the external entry Q96PG8.
    Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
    Length:101
    Mass (Da):10,326
    GO
    Isoform 4 (identifier: Q96PG8-2) [UniParc]FASTAAdd to Basket

    Also known as: PUMA gamma

    The sequence of this isoform can be found in the external entry Q96PG8.
    Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
    Length:261
    Mass (Da):26,498
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9292MARAR…PRPDG → MKFGMGSAQACPCQVPRAAS TTWVPCQICG in isoform 2. 1 PublicationVSP_012238Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF332558 mRNA. Translation: AAK31316.1.
    AF354654 mRNA. Translation: AAK39542.1.
    AF354655 mRNA. Translation: AAK39543.1.
    U82987 mRNA. Translation: AAB51243.2.
    CH471126 Genomic DNA. Translation: EAW57465.1.
    BC136481 mRNA. Translation: AAI36482.1.
    CCDSiCCDS12697.1. [Q9BXH1-1]
    CCDS46130.1. [Q9BXH1-2]
    RefSeqiNP_001120712.1. NM_001127240.2.
    NP_001120713.1. NM_001127241.2. [Q9BXH1-2]
    NP_001120714.1. NM_001127242.2.
    NP_055232.1. NM_014417.4. [Q9BXH1-1]
    XP_005258797.1. XM_005258740.2. [Q9BXH1-1]
    XP_006723204.1. XM_006723141.1. [Q9BXH1-1]
    UniGeneiHs.467020.

    Genome annotation databases

    GeneIDi27113.
    KEGGihsa:27113.
    UCSCiuc002pgf.4. human. [Q9BXH1-1]
    uc010eky.3. human. [Q9BXH1-2]

    Polymorphism databases

    DMDMi56748610.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF332558 mRNA. Translation: AAK31316.1 .
    AF354654 mRNA. Translation: AAK39542.1 .
    AF354655 mRNA. Translation: AAK39543.1 .
    U82987 mRNA. Translation: AAB51243.2 .
    CH471126 Genomic DNA. Translation: EAW57465.1 .
    BC136481 mRNA. Translation: AAI36482.1 .
    CCDSi CCDS12697.1. [Q9BXH1-1 ]
    CCDS46130.1. [Q9BXH1-2 ]
    RefSeqi NP_001120712.1. NM_001127240.2.
    NP_001120713.1. NM_001127241.2. [Q9BXH1-2 ]
    NP_001120714.1. NM_001127242.2.
    NP_055232.1. NM_014417.4. [Q9BXH1-1 ]
    XP_005258797.1. XM_005258740.2. [Q9BXH1-1 ]
    XP_006723204.1. XM_006723141.1. [Q9BXH1-1 ]
    UniGenei Hs.467020.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2M04 NMR - B 130-154 [» ]
    4BPI X-ray 1.98 B 136-152 [» ]
    4BPJ X-ray 1.60 D 139-153 [» ]
    4BPK X-ray 1.76 C/D 134-152 [» ]
    4HNJ X-ray 2.90 C 130-154 [» ]
    ProteinModelPortali Q9BXH1.
    SMRi Q9BXH1. Positions 130-155.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118009. 4 interactions.
    DIPi DIP-29215N.
    IntActi Q9BXH1. 9 interactions.
    MINTi MINT-6629069.
    STRINGi 9606.ENSP00000404503.

    Chemistry

    BindingDBi Q9BXH1.

    PTM databases

    PhosphoSitei Q9BXH1.

    Polymorphism databases

    DMDMi 56748610.

    Proteomic databases

    MaxQBi Q9BXH1.
    PaxDbi Q9BXH1.
    PRIDEi Q9BXH1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 27113.
    KEGGi hsa:27113.
    UCSCi uc002pgf.4. human. [Q9BXH1-1 ]
    uc010eky.3. human. [Q9BXH1-2 ]

    Organism-specific databases

    CTDi 27113.
    GeneCardsi GC19M047724.
    HGNCi HGNC:17868. BBC3.
    HPAi CAB007752.
    MIMi 605854. gene.
    neXtProti NX_Q9BXH1.
    PharmGKBi PA38471.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi prNOG22537.
    HOGENOMi HOG000060256.
    HOVERGENi HBG050671.
    InParanoidi Q9BXH1.
    KOi K10132.
    PhylomeDBi Q9BXH1.

    Enzyme and pathway databases

    Reactomei REACT_121. Activation of PUMA and translocation to mitochondria.
    REACT_330. BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members.

    Miscellaneous databases

    ChiTaRSi BBC3. human.
    GenomeRNAii 27113.
    NextBioi 49796.
    PROi Q9BXH1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BXH1.
    Bgeei Q9BXH1.
    CleanExi HS_BBC3.
    Genevestigatori Q9BXH1.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "PUMA induces the rapid apoptosis of colorectal cancer cells."
      Yu J., Zhang L., Hwang P.M., Kinzler K.W., Vogelstein B.
      Mol. Cell 7:673-682(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH BCL2 AND BCL2L1, TISSUE SPECIFICITY.
    2. "PUMA, a novel proapoptotic gene, is induced by p53."
      Nakano K., Wousden K.H.
      Mol. Cell 7:683-694(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), INDUCTION, SUBCELLULAR LOCATION.
    3. "Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals."
      Han J.-W., Flemington C., Houghton A.B., Gu Z., Zambetti G.P., Lutz R.J., Zhu L., Chittenden T.
      Proc. Natl. Acad. Sci. U.S.A. 98:11318-11323(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION, SUBCELLULAR LOCATION.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. "CHOP potentially co-operates with FOXO3a in neuronal cells to regulate PUMA and BIM expression in response to ER stress."
      Ghosh A.P., Klocke B.J., Ballestas M.E., Roth K.A.
      PLoS ONE 7:E39586-E39586(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    8. "PUMA binding induces partial unfolding within BCL-xL to disrupt p53 binding and promote apoptosis."
      Follis A.V., Chipuk J.E., Fisher J.C., Yun M.K., Grace C.R., Nourse A., Baran K., Ou L., Min L., White S.W., Green D.R., Kriwacki R.W.
      Nat. Chem. Biol. 9:163-168(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 130-154 IN COMPLEX WITH BCL2L1, STRUCTURE BY NMR OF 130-154 IN COMPLEX WITH BCL2L1, FUNCTION, DOMAIN, MUTAGENESIS OF TRP-133, INTERACTION WITH BCL2L1.

    Entry informationi

    Entry nameiBBC3_HUMAN
    AccessioniPrimary (citable) accession number: Q9BXH1
    Secondary accession number(s): B9EGI3, O00171, Q96PG9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 21, 2004
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 108 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3