ID BBC3_HUMAN Reviewed; 193 AA. AC Q9BXH1; O00171; Q96PG9; DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot. DT 01-JUN-2001, sequence version 1. DT 03-NOV-2009, entry version 59. 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). 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"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- 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 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 DIP; DIP:29215N; -. DR IntAct; Q9BXH1; 11. DR STRING; Q9BXH1; -. DR Ensembl; ENST00000300880; ENSP00000300880; ENSG00000105327; Homo sapiens. DR Ensembl; ENST00000341983; ENSP00000341155; ENSG00000105327; Homo sapiens. DR Ensembl; ENST00000359924; ENSP00000352999; ENSG00000105327; Homo sapiens. DR Ensembl; ENST00000439096; ENSP00000395862; ENSG00000105327; Homo sapiens. DR Ensembl; ENST00000449228; ENSP00000404503; 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 HOGENOM; Q9BXH1; -. DR HOVERGEN; Q9BXH1; -. DR OMA; CQICGPQ; -. 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:0045926; P:negative regulation of growth; IMP:UniProtKB. DR GO; GO:0001836; P:release of cytochrome c from mitochondria; IDA:UniProtKB. DR InterPro; IPR000712; Bcl2_BH. 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 //