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Protein

Bcl-2-binding component 3

Gene

BBC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processApoptosis

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000105327.15
HGNCiHGNC:17868 BBC3
MIMi605854 gene
neXtProtiNX_Q9BXH1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi79423
79424 [Q9BXH1-2]

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
HPA070403

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

Show more details

Protein-protein interaction databases

BioGridi118009, 7 interactors
ComplexPortaliCPX-1986 PUMA:BCL-2 complex
CPX-1987 PUMA:BCL-XL complex
DIPiDIP-29215N
IntActiQ9BXH1, 9 interactors
MINTiQ9BXH1

Structurei

Secondary structure

1193
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi133 – 150Combined sources18

3D structure databases

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

InterProiView protein in InterPro
IPR031661 Bbc3
PANTHERiPTHR28639 PTHR28639, 1 hit
PfamiView protein in Pfam
PF15826 PUMA, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiBBC3_HUMAN
AccessioniPrimary (citable) accession number: Q9BXH1
Secondary accession number(s): B9EGI3, O00171, Q96PG9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: June 1, 2001
Last modified: June 20, 2018
This is version 137 of the entry and version 1 of the sequence. See 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

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