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Protein

Bcl-2-binding component 3

Gene

BBC3

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

Functioni

Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Functions by promoting partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ER stress-induced neuronal apoptosis.2 Publications

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105327-MONOMER.
ReactomeiR-HSA-111453. BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members.
R-HSA-139915. Activation of PUMA and translocation to mitochondria.
R-HSA-6803204. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
SIGNORiQ9BXH1.

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

GO - Cellular componenti

  • cytosol Source: Reactome
  • endoplasmic reticulum Source: GOC
  • mitochondrial outer membrane Source: Reactome
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi133W → A: Impairs p53/TP53-dependent apoptosis. 1 Publication1

Organism-specific databases

DisGeNETi27113.
OpenTargetsiENSG00000105327.
PharmGKBiPA38471.

Polymorphism and mutation databases

BioMutaiC10orf118.
DMDMi56748610.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001430831 – 193Bcl-2-binding component 3Add BLAST193

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei10PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BXH1.
MaxQBiQ9BXH1.
PeptideAtlasiQ9BXH1.
PRIDEiQ9BXH1.

PTM databases

iPTMnetiQ9BXH1.
PhosphoSitePlusiQ9BXH1.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Inductioni

By DNA damage, glucocorticoid treatment, growth factor deprivation and p53. By ER stress in a DDIT3/CHOP-dependent manner.3 Publications

Gene expression databases

BgeeiENSG00000105327.
CleanExiHS_BBC3.
ExpressionAtlasiQ9BXH1. baseline and differential.
GenevisibleiQ9BXH1. HS.

Organism-specific databases

HPAiCAB007752.

Interactioni

Subunit structurei

Interacts with MCL1 and BCL2A1 (By similarity). Interacts with BCL2 and BCL2L1/BCL-XL. Interacts (via BH3 domain) with NOL3 (via CARD domain); preventing the association of BBC3 with BCL2 and resulting in activation of CASP8 (By similarity).By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BCL2P104155EBI-519884,EBI-77694
BCL2L1Q07817-17EBI-519884,EBI-287195
BCL2L2Q928432EBI-519884,EBI-707714
MCL1Q078203EBI-519884,EBI-1003422
Mcl1P972875EBI-519884,EBI-707292From a different organism.

Protein-protein interaction databases

BioGridi118009. 6 interactors.
DIPiDIP-29215N.
IntActiQ9BXH1. 9 interactors.
MINTiMINT-6629069.

Structurei

Secondary structure

1193
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi138 – 141Combined sources4
Helixi145 – 148Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M04NMR-B130-154[»]
4BPIX-ray1.98B136-152[»]
4BPJX-ray1.60D139-153[»]
4BPKX-ray1.76C/D134-152[»]
4HNJX-ray2.90C130-154[»]
ProteinModelPortaliQ9BXH1.
SMRiQ9BXH1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi137 – 151BH3Add BLAST15

Domaini

The BH3 motif is intrinsically disordered.1 Publication

Sequence similaritiesi

Belongs to the Bcl-2 family.Curated

Phylogenomic databases

GeneTreeiENSGT00710000107236.
HOGENOMiHOG000060256.
HOVERGENiHBG050671.
KOiK10132.
PhylomeDBiQ9BXH1.

Family and domain databases

InterProiIPR031661. Bbc3.
[Graphical view]
PANTHERiPTHR28639. PTHR28639. 1 hit.
PfamiPF15826. PUMA. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9BXH1-1) [UniParc]FASTAAdd to basket
Also known as: PUMA alpha

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
MARARQEGSS PEPVEGLARD GPRPFPLGRL VPSAVSCGLC EPGLAAAPAA
60 70 80 90 100
PTLLPAAYLC APTAPPAVTA ALGGSRWPGG PRSRPRGPRP DGPQPSLSLA
110 120 130 140 150
EQHLESPVPS APGALAGGPT QAAPGVRGEE EQWAREIGAQ LRRMADDLNA
160 170 180 190
QYERRRQEEQ QRHRPSPWRV LYNLIMGLLP LPRGHRAPEM EPN
Length:193
Mass (Da):20,532
Last modified:June 1, 2001 - v1
Checksum:i3585527F1858A4FA
GO
Isoform 2 (identifier: Q9BXH1-2) [UniParc]FASTAAdd to basket
Also known as: PUMA beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: MARARQEGSS...SRPRGPRPDG → MKFGMGSAQACPCQVPRAASTTWVPCQICG

Show »
Length:131
Mass (Da):14,459
Checksum:i674939670238F4AC
GO
Isoform 3 (identifier: Q96PG8-1) [UniParc]FASTAAdd to basket
Also known as: PUMA delta
The sequence of this isoform can be found in the external entry Q96PG8.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:101
Mass (Da):10,326
GO
Isoform 4 (identifier: Q96PG8-2) [UniParc]FASTAAdd to basket
Also known as: PUMA gamma
The sequence of this isoform can be found in the external entry Q96PG8.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:261
Mass (Da):26,498
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0122381 – 92MARAR…PRPDG → MKFGMGSAQACPCQVPRAAS TTWVPCQICG in isoform 2. 1 PublicationAdd BLAST92

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF332558 mRNA. Translation: AAK31316.1.
AF354654 mRNA. Translation: AAK39542.1.
AF354655 mRNA. Translation: AAK39543.1.
U82987 mRNA. Translation: AAB51243.2.
CH471126 Genomic DNA. Translation: EAW57465.1.
BC136481 mRNA. Translation: AAI36482.1.
CCDSiCCDS12697.1. [Q9BXH1-1]
CCDS46130.1. [Q9BXH1-2]
RefSeqiNP_001120712.1. NM_001127240.2.
NP_001120713.1. NM_001127241.2. [Q9BXH1-2]
NP_001120714.1. NM_001127242.2.
NP_055232.1. NM_014417.4. [Q9BXH1-1]
XP_006723204.1. XM_006723141.3. [Q9BXH1-1]
UniGeneiHs.467020.

Genome annotation databases

EnsembliENST00000341983; ENSP00000341155; ENSG00000105327. [Q9BXH1-2]
ENST00000439096; ENSP00000395862; ENSG00000105327. [Q9BXH1-1]
GeneIDi27113.
KEGGihsa:27113.
UCSCiuc002pgf.5. human. [Q9BXH1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF332558 mRNA. Translation: AAK31316.1.
AF354654 mRNA. Translation: AAK39542.1.
AF354655 mRNA. Translation: AAK39543.1.
U82987 mRNA. Translation: AAB51243.2.
CH471126 Genomic DNA. Translation: EAW57465.1.
BC136481 mRNA. Translation: AAI36482.1.
CCDSiCCDS12697.1. [Q9BXH1-1]
CCDS46130.1. [Q9BXH1-2]
RefSeqiNP_001120712.1. NM_001127240.2.
NP_001120713.1. NM_001127241.2. [Q9BXH1-2]
NP_001120714.1. NM_001127242.2.
NP_055232.1. NM_014417.4. [Q9BXH1-1]
XP_006723204.1. XM_006723141.3. [Q9BXH1-1]
UniGeneiHs.467020.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M04NMR-B130-154[»]
4BPIX-ray1.98B136-152[»]
4BPJX-ray1.60D139-153[»]
4BPKX-ray1.76C/D134-152[»]
4HNJX-ray2.90C130-154[»]
ProteinModelPortaliQ9BXH1.
SMRiQ9BXH1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118009. 6 interactors.
DIPiDIP-29215N.
IntActiQ9BXH1. 9 interactors.
MINTiMINT-6629069.

PTM databases

iPTMnetiQ9BXH1.
PhosphoSitePlusiQ9BXH1.

Polymorphism and mutation databases

BioMutaiC10orf118.
DMDMi56748610.

Proteomic databases

EPDiQ9BXH1.
MaxQBiQ9BXH1.
PeptideAtlasiQ9BXH1.
PRIDEiQ9BXH1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341983; ENSP00000341155; ENSG00000105327. [Q9BXH1-2]
ENST00000439096; ENSP00000395862; ENSG00000105327. [Q9BXH1-1]
GeneIDi27113.
KEGGihsa:27113.
UCSCiuc002pgf.5. human. [Q9BXH1-1]

Organism-specific databases

CTDi27113.
DisGeNETi27113.
GeneCardsiBBC3.
HGNCiHGNC:17868. BBC3.
HPAiCAB007752.
MIMi605854. gene.
neXtProtiNX_Q9BXH1.
OpenTargetsiENSG00000105327.
PharmGKBiPA38471.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00710000107236.
HOGENOMiHOG000060256.
HOVERGENiHBG050671.
KOiK10132.
PhylomeDBiQ9BXH1.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105327-MONOMER.
ReactomeiR-HSA-111453. BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members.
R-HSA-139915. Activation of PUMA and translocation to mitochondria.
R-HSA-6803204. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
SIGNORiQ9BXH1.

Miscellaneous databases

ChiTaRSiBBC3. human.
GenomeRNAii27113.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105327.
CleanExiHS_BBC3.
ExpressionAtlasiQ9BXH1. baseline and differential.
GenevisibleiQ9BXH1. HS.

Family and domain databases

InterProiIPR031661. Bbc3.
[Graphical view]
PANTHERiPTHR28639. PTHR28639. 1 hit.
PfamiPF15826. PUMA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBBC3_HUMAN
AccessioniPrimary (citable) accession number: Q9BXH1
Secondary accession number(s): B9EGI3, O00171, Q96PG9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: June 1, 2001
Last modified: November 2, 2016
This is version 127 of the entry and version 1 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

3D-structure, 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
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

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.