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Protein

Bcl-2-binding component 3

Gene

BBC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Isoform 3 fails to show any growth-inhibitory or apoptotic activity.

GO - Molecular functioni

  • ATPase binding Source: ParkinsonsUK-UCL
  • glycoprotein binding Source: ParkinsonsUK-UCL

GO - Biological processi

  • apoptotic process Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Biological processi

Apoptosis

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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:17868. BBC3.

Subcellular locationi

  • Mitochondrion 1 Publication

  • Note: Localized to the mitochondria in order to induce cytochrome c release. Isoform 3 is not found in mitochondria.

GO - Cellular componenti

  • mitochondrion Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38471.

Polymorphism and mutation databases

BioMutaiUSPL1.
DMDMi391738062.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 261261Bcl-2-binding component 3PRO_0000417572Add
BLAST

Proteomic databases

PaxDbiQ96PG8.
PRIDEiQ96PG8.

Expressioni

Inductioni

By DNA damage, glucocorticoid treatment, growth factor deprivation and p53/TP53.1 Publication

Gene expression databases

BgeeiQ96PG8.
ExpressionAtlasiQ96PG8. baseline and differential.
GenevisibleiQ96PG8. HS.

Organism-specific databases

HPAiCAB007752.

Interactioni

Subunit structurei

Isoform 3 does not interact with BCL2.

GO - Molecular functioni

  • ATPase binding Source: ParkinsonsUK-UCL
  • glycoprotein binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi118009. 6 interactions.
STRINGi9606.ENSP00000404503.

Structurei

3D structure databases

ProteinModelPortaliQ96PG8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi32 – 10574Arg-richAdd
BLAST
Compositional biasi37 – 12488Pro-richAdd
BLAST
Compositional biasi134 – 18047Gly-richAdd
BLAST
Compositional biasi194 – 1974Poly-Ala

Phylogenomic databases

eggNOGiENOG410IW36. Eukaryota.
ENOG41119TR. LUCA.
GeneTreeiENSGT00710000107236.
HOGENOMiHOG000151283.
InParanoidiQ96PG8.
KOiK10132.
OMAiCGPRERH.
OrthoDBiEOG7J9VS6.
PhylomeDBiQ96PG8.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 4 (identifier: Q96PG8-2) [UniParc]FASTAAdd to basket

Also known as: PUMA gamma

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

        10         20         30         40         50
MKFGMGSAQA CPCQVPRAAS TTWVPCQICG PRERHGPRTP GGQLPGARRG
60 70 80 90 100
PGPRRPAPLP ARPPGALGSV LRPLRARPGC RPRRPHPAAR CLPLRPHRPT
110 120 130 140 150
RRHRRPGGFP LAWGSPQPAP RPAPGRSSAL ALAGGAAPGV ARAQRPGGSG
160 170 180 190 200
GRSHPGGPGS PRGGGTVGPG DRGPAAADGG RPQRTVRAAE TRGAAAAPPL
210 220 230 240 250
TLEGPVQSHH GTPALTQGPQ SPRDGAQLGA CTRPVDVRDS GGRPLPPPDT
260
LASAGDFLCT M
Length:261
Mass (Da):26,498
Last modified:June 13, 2012 - v2
Checksum:i47BE86F942BD0452
GO
Isoform 3 (identifier: Q96PG8-1) [UniParc]FASTAAdd to basket

Also known as: PUMA delta

The sequence of this isoform differs from the canonical sequence as follows:
     30-189: Missing.

Show »
Length:101
Mass (Da):10,326
Checksum:i87EE064B28C97F14
GO
Isoform 1 (identifier: Q9BXH1-1) [UniParc]FASTAAdd to basket

Also known as: PUMA alpha

The sequence of this isoform can be found in the external entry Q9BXH1.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:193
Mass (Da):20,532
GO
Isoform 2 (identifier: Q9BXH1-2) [UniParc]FASTAAdd to basket

Also known as: PUMA beta

The sequence of this isoform can be found in the external entry Q9BXH1.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:131
Mass (Da):14,459
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei30 – 189160Missing in isoform 3. 1 PublicationVSP_043781Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF354656 mRNA. Translation: AAK39544.1.
AC008532 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW57467.1.
CCDSiCCDS46128.1. [Q96PG8-1]
CCDS46129.1. [Q96PG8-2]
RefSeqiNP_001120712.1. NM_001127240.2. [Q96PG8-2]
NP_001120714.1. NM_001127242.2. [Q96PG8-1]
UniGeneiHs.467020.

Genome annotation databases

EnsembliENST00000300880; ENSP00000300880; ENSG00000105327. [Q96PG8-1]
ENST00000449228; ENSP00000404503; ENSG00000105327. [Q96PG8-2]
GeneIDi27113.
KEGGihsa:27113.
UCSCiuc010ekz.4. human. [Q96PG8-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF354656 mRNA. Translation: AAK39544.1.
AC008532 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW57467.1.
CCDSiCCDS46128.1. [Q96PG8-1]
CCDS46129.1. [Q96PG8-2]
RefSeqiNP_001120712.1. NM_001127240.2. [Q96PG8-2]
NP_001120714.1. NM_001127242.2. [Q96PG8-1]
UniGeneiHs.467020.

3D structure databases

ProteinModelPortaliQ96PG8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118009. 6 interactions.
STRINGi9606.ENSP00000404503.

Polymorphism and mutation databases

BioMutaiUSPL1.
DMDMi391738062.

Proteomic databases

PaxDbiQ96PG8.
PRIDEiQ96PG8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300880; ENSP00000300880; ENSG00000105327. [Q96PG8-1]
ENST00000449228; ENSP00000404503; ENSG00000105327. [Q96PG8-2]
GeneIDi27113.
KEGGihsa:27113.
UCSCiuc010ekz.4. human. [Q96PG8-2]

Organism-specific databases

CTDi27113.
GeneCardsiBBC3.
H-InvDBHIX0174298.
HGNCiHGNC:17868. BBC3.
HPAiCAB007752.
MIMi605854. gene.
neXtProtiNX_Q96PG8.
PharmGKBiPA38471.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IW36. Eukaryota.
ENOG41119TR. LUCA.
GeneTreeiENSGT00710000107236.
HOGENOMiHOG000151283.
InParanoidiQ96PG8.
KOiK10132.
OMAiCGPRERH.
OrthoDBiEOG7J9VS6.
PhylomeDBiQ96PG8.

Miscellaneous databases

ChiTaRSiBBC3. human.
GeneWikiiP53_upregulated_modulator_of_apoptosis.
GenomeRNAii27113.
NextBioi49796.
SOURCEiSearch...

Gene expression databases

BgeeiQ96PG8.
ExpressionAtlasiQ96PG8. baseline and differential.
GenevisibleiQ96PG8. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiBBC3B_HUMAN
AccessioniPrimary (citable) accession number: Q96PG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 13, 2012
Last sequence update: June 13, 2012
Last modified: March 16, 2016
This is version 80 of the entry and version 2 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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.