ID   BBC3_HUMAN              Reviewed;         193 AA.
AC   Q9BXH1; B9EGI3; O00171; Q96PG9;
DT   21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2001, sequence version 1.
DT   19-JAN-2010, entry version 62.
DE   RecName: Full=Bcl-2-binding component 3;
DE   AltName: Full=p53 up-regulated modulator of apoptosis;
DE   AltName: Full=JFY-1;
GN   Name=BBC3; Synonyms=PUMA;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR
RP   LOCATION, INTERACTION WITH BCL2 AND BCL2L1, AND TISSUE SPECIFICITY.
RX   MEDLINE=21394643; PubMed=11463391; DOI=10.1016/S1097-2765(01)00213-1;
RA   Yu J., Zhang L., Hwang P.M., Kinzler K.W., Vogelstein B.;
RT   "PUMA induces the rapid apoptosis of colorectal cancer cells.";
RL   Mol. Cell 7:673-682(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INDUCTION, AND
RP   SUBCELLULAR LOCATION.
RX   MEDLINE=21394644; PubMed=11463392; DOI=10.1016/S1097-2765(01)00214-3;
RA   Nakano K., Wousden K.H.;
RT   "PUMA, a novel proapoptotic gene, is induced by p53.";
RL   Mol. Cell 7:683-694(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION, AND SUBCELLULAR
RP   LOCATION.
RX   MEDLINE=21457329; PubMed=11572983; DOI=10.1073/pnas.201208798;
RA   Han J.-W., Flemington C., Houghton A.B., Gu Z., Zambetti G.P.,
RA   Lutz R.J., Zhu L., Chittenden T.;
RT   "Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by
RT   diverse cell death and survival signals.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:11318-11323(2001).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: Essential mediator of p53-dependent and p53-independent
CC       apoptosis.
CC   -!- SUBUNIT: Interacts with MCL1 and BCL2A1 (By similarity). Interacts
CC       with BCL2 and BCL2L1/BCL-XL.
CC   -!- INTERACTION:
CC       P10415:BCL2; NbExp=3; IntAct=EBI-519884, EBI-77694;
CC       P10415:BCL2; NbExp=1; IntAct=EBI-519891, EBI-77694;
CC       P10415:BCL2; NbExp=1; IntAct=EBI-519896, EBI-77694;
CC       Q16548:BCL2A1; NbExp=1; IntAct=EBI-519884, EBI-1003550;
CC       Q07440:Bcl2a1 (xeno); NbExp=1; IntAct=EBI-519884, EBI-707754;
CC       Q07817:BCL2L1; NbExp=1; IntAct=EBI-519884, EBI-78035;
CC       Q07817-1:BCL2L1; NbExp=5; IntAct=EBI-519884, EBI-287195;
CC       Q92843:BCL2L2; NbExp=2; IntAct=EBI-519884, EBI-707714;
CC       Q07820:MCL1; NbExp=1; IntAct=EBI-519884, EBI-1003422;
CC       P97287:Mcl1 (xeno); NbExp=2; IntAct=EBI-519884, EBI-707292;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion. Note=Localized to the
CC       mitochondria in order to induce cytochrome c release.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1; Synonyms=PUMA alpha;
CC         IsoId=Q9BXH1-1; Sequence=Displayed;
CC       Name=2; Synonyms=PUMA beta;
CC         IsoId=Q9BXH1-2; Sequence=VSP_012238;
CC         Note=No experimental confirmation available;
CC   -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC   -!- INDUCTION: By DNA damage, glucocorticoid treatment, growth factor
CC       deprivation and p53.
CC   -!- SIMILARITY: Belongs to the Bcl-2 family.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC       and Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/BBC3ID759ch19q13.html";
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DR   EMBL; AF332558; AAK31316.1; -; mRNA.
DR   EMBL; AF354654; AAK39542.1; -; mRNA.
DR   EMBL; AF354655; AAK39543.1; -; mRNA.
DR   EMBL; U82987; AAB51243.2; -; mRNA.
DR   EMBL; CH471126; EAW57465.1; -; Genomic_DNA.
DR   EMBL; BC136481; AAI36482.1; -; mRNA.
DR   IPI; IPI00186516; -.
DR   IPI; IPI00941633; -.
DR   RefSeq; NP_001120712.1; -.
DR   RefSeq; NP_001120713.1; -.
DR   RefSeq; NP_001120714.1; -.
DR   RefSeq; NP_055232.1; -.
DR   UniGene; Hs.467020; -.
DR   SMR; Q9BXH1; 130-155.
DR   DIP; DIP-29215N; -.
DR   IntAct; Q9BXH1; 11.
DR   STRING; Q9BXH1; -.
DR   Ensembl; ENST00000359924; ENSP00000352999; ENSG00000105327; Homo sapiens.
DR   Ensembl; ENST00000439096; ENSP00000395862; ENSG00000105327; Homo sapiens.
DR   GeneID; 27113; -.
DR   KEGG; hsa:27113; -.
DR   UCSC; uc002pgf.2; human.
DR   UCSC; uc010eky.1; human.
DR   CTD; 27113; -.
DR   GeneCards; GC19M052415; -.
DR   H-InvDB; HIX0027462; -.
DR   HGNC; HGNC:17868; BBC3.
DR   HPA; CAB007752; -.
DR   MIM; 605854; gene.
DR   PharmGKB; PA38471; -.
DR   eggNOG; prNOG20559; -.
DR   HOVERGEN; Q9BXH1; -.
DR   InParanoid; Q9BXH1; -.
DR   OrthoDB; EOG9RNDW2; -.
DR   PhylomeDB; Q9BXH1; -.
DR   Reactome; REACT_578; Apoptosis.
DR   NextBio; 49796; -.
DR   ArrayExpress; Q9BXH1; -.
DR   Bgee; Q9BXH1; -.
DR   CleanEx; HS_BBC3; -.
DR   Genevestigator; Q9BXH1; -.
DR   GermOnline; ENSG00000105327; Homo sapiens.
DR   GO; GO:0005741; C:mitochondrial outer membrane; EXP:Reactome.
DR   GO; GO:0005515; F:protein binding; IPI:UniProtKB.
DR   GO; GO:0006919; P:activation of caspase activity; IDA:UniProtKB.
DR   GO; GO:0006917; P:induction of apoptosis; IDA:HGNC.
DR   GO; GO:0045926; P:negative regulation of growth; IMP:UniProtKB.
DR   GO; GO:0001836; P:release of cytochrome c from mitochondria; IDA:UniProtKB.
DR   PROSITE; PS01259; BH3; FALSE_NEG.
PE   1: Evidence at protein level;
KW   Alternative splicing; Apoptosis; Complete proteome; Mitochondrion.
FT   CHAIN         1    193       Bcl-2-binding component 3.
FT                                /FTId=PRO_0000143083.
FT   MOTIF       137    151       BH3.
FT   VAR_SEQ       1     92       MARARQEGSSPEPVEGLARDGPRPFPLGRLVPSAVSCGLCE
FT                                PGLAAAPAAPTLLPAAYLCAPTAPPAVTAALGGSRWPGGPR
FT                                SRPRGPRPDG -> MKFGMGSAQACPCQVPRAASTTWVPCQ
FT                                ICG (in isoform 2).
FT                                /FTId=VSP_012238.
SQ   SEQUENCE   193 AA;  20532 MW;  3585527F1858A4FA CRC64;
     MARARQEGSS PEPVEGLARD GPRPFPLGRL VPSAVSCGLC EPGLAAAPAA PTLLPAAYLC
     APTAPPAVTA ALGGSRWPGG PRSRPRGPRP DGPQPSLSLA EQHLESPVPS APGALAGGPT
     QAAPGVRGEE EQWAREIGAQ LRRMADDLNA QYERRRQEEQ QRHRPSPWRV LYNLIMGLLP
     LPRGHRAPEM EPN
//