[1]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH BCL2 AND BCL2L1, AND TISSUE SPECIFICITY. DOI=10.1016/S1097-2765(01)00213-1; PubMed=11463391 [NCBI, ExPASy, EBI, Israel, Japan] Yu J., Zhang L., Hwang P.M., Kinzler K.W., Vogelstein B.; "PUMA induces the rapid apoptosis of colorectal cancer cells."; Mol. Cell 7:673-682(2001).
[2]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INDUCTION, AND SUBCELLULAR LOCATION. DOI=10.1016/S1097-2765(01)00214-3; PubMed=11463392 [NCBI, ExPASy, EBI, Israel, Japan] Nakano K., Wousden K.H.; "PUMA, a novel proapoptotic gene, is induced by p53."; Mol. Cell 7:683-694(2001).
[3]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION, AND SUBCELLULAR LOCATION. DOI=10.1073/pnas.201208798; PubMed=11572983 [NCBI, ExPASy, EBI, Israel, Japan] Han J.-W., Flemington C., Houghton A.B., Gu Z., Zambetti G.P., Lutz R.J., Zhu L., Chittenden T.; "Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals."; Proc. Natl. Acad. Sci. U.S.A. 98:11318-11323(2001).

Comments

FUNCTION: Essential mediator of p53-dependent and p53-independent apoptosis.
SUBUNIT: Interacts with MCL1 and BCL2A1 (By similarity). Interacts with BCL2 and BCL2L1/BCL-XL.
INTERACTION:
P10415:BCL2; NbExp=3; IntAct=EBI-519884, EBI-77694;
P10415:BCL2; NbExp=1; IntAct=EBI-519891, EBI-77694;
P10415:BCL2; NbExp=1; IntAct=EBI-519896, EBI-77694;
Q16548:BCL2A1; NbExp=1; IntAct=EBI-519884, EBI-1003550;
Q07440:Bcl2a1 (xeno); NbExp=1; IntAct=EBI-519884, EBI-707754;
Q07817:BCL2L1; NbExp=1; IntAct=EBI-519884, EBI-78035;
Q07817-1:BCL2L1; NbExp=5; IntAct=EBI-519884, EBI-287195;
Q92843:BCL2L2; NbExp=2; IntAct=EBI-519884, EBI-707714;
Q07820:MCL1; NbExp=1; IntAct=EBI-519884, EBI-1003422;
P97287:Mcl1 (xeno); NbExp=2; IntAct=EBI-519884, EBI-707292;
SUBCELLULAR LOCATION: Mitochondrion. Note=Localized to the mitochondria in order to induce cytochrome c release.

ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.

Name	1
Synonyms	PUMA alpha
Isoform ID	Q9BXH1-1
This is the isoform sequence displayed in this entry.

Name	2
Synonyms	PUMA beta
Isoform ID	Q9BXH1-2
Note: No experimental confirmation available.
Features which should be applied to build the isoform sequence: VSP_012238.

TISSUE SPECIFICITY: Ubiquitously expressed.
INDUCTION: By DNA damage, glucocorticoid treatment, growth factor deprivation and p53.
SIMILARITY: Belongs to the Bcl-2 family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BBC3ID759ch19q13.html";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AF332558; AAK31316.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF354654; AAK39542.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF354655; AAK39543.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U82987; AAB51243.2; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00004338; -.
IPI00186516; -.

RefSeq

NP_001120712.1; -.
NP_001120713.1; -.
NP_055232.1; -.

UniGene

Hs.467020

3D structure databases

ModBase

Q9BXH1.

Protein-protein interaction databases

DIP

DIP:29215N; -.

IntAct

Q9BXH1; 11.

Enzyme and pathway databases

Reactome

REACT_578; Apoptosis.

Organism-specific databases

GC19M052415; -.

HIX0027462; -.

HGNC:17868; BBC3.

CAB007752; -.

605854; gene. [NCBI / EBI]

PharmGKB

PA38471; -.

Gene expression databases

Q9BXH1; -.

Q9BXH1; -.

HS_BBC3; -.

ENSG00000105327; Homo sapiens.

Ontologies

GO:0005741;	Cellular component: mitochondrial outer membrane (inferred from experiment from Reactome).
GO:0005515;	Molecular function: protein binding (inferred from physical interaction from UniProtKB).
GO:0006919;	Biological process: activation of caspase activity (inferred from direct assay from UniProtKB).
GO:0045926;	Biological process: negative regulation of growth (inferred from mutant phenotype from UniProtKB).
GO:0001836;	Biological process: release of cytochrome c from mitochondria (inferred from direct assay from UniProtKB).
QuickGo view.

Family and domain databases

InterPro

IPR000712; Bcl2_BH.
Graphical view of domain structure.

PROSITE

PS01259; BH3; FALSE_NEG.

Genome annotation databases

Ensembl

ENSG00000105327; Homo sapiens. [Contig view]

GeneID

27113; -.

KEGG

hsa:27113; -.

Phylogenomic databases

HOGENOM

Q9BXH1; -.

HOVERGEN

Q9BXH1; -.

OMA

Q9BXH1; CQICGPQ.

Other

49796; -.

BBC3; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Alternative splicing; Apoptosis; Mitochondrion.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 193`	`193`	`Bcl-2-binding component 3.`	`PRO_0000143083`
`MOTIF`	`137 151`	`15`	`BH3.`
`VAR_SEQ`	`1 92`		`MARARQEGSSPEPVEGLARDGPRPFPLGRLVPSAVSCGLC` `EPGLAAAPAAPTLLPAAYLCAPTAPPAVTAALGGSRWPGG` `PRSRPRGPRPDG -> MKFGMGSAQACPCQVPRAASTTWVPCQICG (in isoform 2).`	`VSP_012238`

Sequence information

Length: 193 AA [This is the length of the unprocessed precursor]

Molecular weight: 20532 Da [This is the MW of the unprocessed precursor]

CRC64: 3585527F1858A4FA [This is a checksum on the sequence]

        10         20         30         40         50         60 
MARARQEGSS PEPVEGLARD GPRPFPLGRL VPSAVSCGLC EPGLAAAPAA PTLLPAAYLC 

        70         80         90        100        110        120 
APTAPPAVTA ALGGSRWPGG PRSRPRGPRP DGPQPSLSLA EQHLESPVPS APGALAGGPT 

       130        140        150        160        170        180 
QAAPGVRGEE EQWAREIGAQ LRRMADDLNA QYERRRQEEQ QRHRPSPWRV LYNLIMGLLP 

       190 
LPRGHRAPEM EPN

Q9BXH1 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools