BBC3B_HUMAN
ID BBC3B_HUMAN Reviewed; 261 AA.
AC Q96PG8;
DT 13-JUN-2012, integrated into UniProtKB/Swiss-Prot.
DT 13-JUN-2012, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Bcl-2-binding component 3, isoforms 3/4;
DE AltName: Full=JFY-1;
DE AltName: Full=p53 up-regulated modulator of apoptosis;
GN Name=BBC3; Synonyms=PUMA;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), INDUCTION BY TP53,
RP SUBCELLULAR LOCATION (ISOFORM 3), AND LACK OF INTERACTION WITH BCL2
RP (ISOFORM 3).
RX 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: [Isoform 3]: Does not affect cell growth.
CC {ECO:0000269|PubMed:11463392}.
CC -!- SUBUNIT: [Isoform 3]: Does not interact with BCL2.
CC {ECO:0000269|PubMed:11463392}.
CC -!- INTERACTION:
CC Q96PG8; Q5TD97: FHL5; NbExp=3; IntAct=EBI-17289784, EBI-750641;
CC Q96PG8; O14964: HGS; NbExp=3; IntAct=EBI-17289784, EBI-740220;
CC Q96PG8; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-17289784, EBI-18053395;
CC Q96PG8; Q86VE0: MYPOP; NbExp=3; IntAct=EBI-17289784, EBI-2858213;
CC Q96PG8; O14561: NDUFAB1; NbExp=3; IntAct=EBI-17289784, EBI-1246261;
CC Q96PG8; Q8TF42: UBASH3B; NbExp=3; IntAct=EBI-17289784, EBI-1380492;
CC Q96PG8; P61964: WDR5; NbExp=3; IntAct=EBI-17289784, EBI-540834;
CC Q96PG8; Q7Z4V0: ZNF438; NbExp=3; IntAct=EBI-17289784, EBI-11962468;
CC -!- SUBCELLULAR LOCATION: Note=Contrary to isoforms 1 and 2, isoform 3 does
CC not localize to the mitochondria.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=4; Synonyms=PUMA gamma;
CC IsoId=Q96PG8-2; Sequence=Displayed;
CC Name=3; Synonyms=PUMA delta;
CC IsoId=Q96PG8-1; Sequence=VSP_043781;
CC Name=1; Synonyms=PUMA alpha;
CC IsoId=Q9BXH1-1; Sequence=External;
CC Name=2; Synonyms=PUMA beta;
CC IsoId=Q9BXH1-2; Sequence=External;
CC -!- INDUCTION: Up-regulated by TP53. {ECO:0000269|PubMed:11463392}.
CC -!- DOMAIN: Contrary to isoforms 1 and 2, isoforms 3 and 4 do not contain
CC any BH3 motif. {ECO:0000305|PubMed:11463392}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF354656; AAK39544.1; -; mRNA.
DR EMBL; AC008532; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471126; EAW57467.1; -; Genomic_DNA.
DR CCDS; CCDS46128.1; -. [Q96PG8-1]
DR CCDS; CCDS46129.1; -. [Q96PG8-2]
DR RefSeq; NP_001120712.1; NM_001127240.2. [Q96PG8-2]
DR RefSeq; NP_001120714.1; NM_001127242.2. [Q96PG8-1]
DR AlphaFoldDB; Q96PG8; -.
DR BioGRID; 118009; 30.
DR IntAct; Q96PG8; 8.
DR STRING; 9606.ENSP00000404503; -.
DR iPTMnet; Q96PG8; -.
DR PhosphoSitePlus; Q96PG8; -.
DR BioMuta; BBC3; -.
DR DMDM; 391738062; -.
DR jPOST; Q96PG8; -.
DR MassIVE; Q96PG8; -.
DR PaxDb; Q96PG8; -.
DR PeptideAtlas; Q96PG8; -.
DR PRIDE; Q96PG8; -.
DR ProteomicsDB; 77692; -. [Q96PG8-2]
DR ProteomicsDB; 77693; -. [Q96PG8-1]
DR Antibodypedia; 3572; 808 antibodies from 43 providers.
DR DNASU; 27113; -.
DR Ensembl; ENST00000300880.11; ENSP00000300880.7; ENSG00000105327.18. [Q96PG8-1]
DR Ensembl; ENST00000449228.5; ENSP00000404503.1; ENSG00000105327.18. [Q96PG8-2]
DR GeneID; 27113; -.
DR KEGG; hsa:27113; -.
DR UCSC; uc010ekz.4; human. [Q96PG8-2]
DR CTD; 27113; -.
DR DisGeNET; 27113; -.
DR GeneCards; BBC3; -.
DR HGNC; HGNC:17868; BBC3.
DR HPA; ENSG00000105327; Low tissue specificity.
DR MIM; 605854; gene.
DR neXtProt; NX_Q96PG8; -.
DR OpenTargets; ENSG00000105327; -.
DR PharmGKB; PA38471; -.
DR VEuPathDB; HostDB:ENSG00000105327; -.
DR eggNOG; ENOG502TE60; Eukaryota.
DR GeneTree; ENSGT00390000002767; -.
DR HOGENOM; CLU_093513_0_0_1; -.
DR InParanoid; Q96PG8; -.
DR OMA; CHQPNPG; -.
DR PhylomeDB; Q96PG8; -.
DR PathwayCommons; Q96PG8; -.
DR SignaLink; Q96PG8; -.
DR SIGNOR; Q96PG8; -.
DR BioGRID-ORCS; 27113; 20 hits in 1077 CRISPR screens.
DR ChiTaRS; BBC3; human.
DR GeneWiki; P53_upregulated_modulator_of_apoptosis; -.
DR GenomeRNAi; 27113; -.
DR Pharos; Q96PG8; Tbio.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96PG8; protein.
DR Bgee; ENSG00000105327; Expressed in type B pancreatic cell and 181 other tissues.
DR ExpressionAtlas; Q96PG8; baseline and differential.
DR Genevisible; Q96PG8; HS.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0051117; F:ATPase binding; IPI:ParkinsonsUK-UCL.
DR GO; GO:0006919; P:activation of cysteine-type endopeptidase activity involved in apoptotic process; IBA:GO_Central.
DR GO; GO:0006915; P:apoptotic process; IMP:ParkinsonsUK-UCL.
DR GO; GO:0097194; P:execution phase of apoptosis; IBA:GO_Central.
DR GO; GO:0070059; P:intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; IBA:GO_Central.
DR GO; GO:2001244; P:positive regulation of intrinsic apoptotic signaling pathway; ISS:UniProtKB.
DR GO; GO:1900740; P:positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway; IBA:GO_Central.
DR GO; GO:0090200; P:positive regulation of release of cytochrome c from mitochondria; IBA:GO_Central.
DR GO; GO:0001836; P:release of cytochrome c from mitochondria; IBA:GO_Central.
DR InterPro; IPR031661; Bbc3.
DR PANTHER; PTHR28639; PTHR28639; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..261
FT /note="Bcl-2-binding component 3, isoforms 3/4"
FT /id="PRO_0000417572"
FT REGION 27..261
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 77..105
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 30..189
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11463392"
FT /id="VSP_043781"
SQ SEQUENCE 261 AA; 26498 MW; 47BE86F942BD0452 CRC64;
MKFGMGSAQA CPCQVPRAAS TTWVPCQICG PRERHGPRTP GGQLPGARRG PGPRRPAPLP
ARPPGALGSV LRPLRARPGC RPRRPHPAAR CLPLRPHRPT RRHRRPGGFP LAWGSPQPAP
RPAPGRSSAL ALAGGAAPGV ARAQRPGGSG GRSHPGGPGS PRGGGTVGPG DRGPAAADGG
RPQRTVRAAE TRGAAAAPPL TLEGPVQSHH GTPALTQGPQ SPRDGAQLGA CTRPVDVRDS
GGRPLPPPDT LASAGDFLCT M
