Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BBC3 Gene

Aliases for BBC3 Gene

  • BCL2 Binding Component 3 2 3 5
  • P53 Up-Regulated Modulator Of Apoptosis 3 4
  • JFY-1 3 4
  • PUMA 3 4
  • Bcl-2-Binding Component 3 3
  • JFY1 3

External Ids for BBC3 Gene

Previous GeneCards Identifiers for BBC3 Gene

  • GC19M048367
  • GC19M048114
  • GC19M052400
  • GC19M052415
  • GC19M047724
  • GC19M044148

Summaries for BBC3 Gene

Entrez Gene Summary for BBC3 Gene

  • This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

GeneCards Summary for BBC3 Gene

BBC3 (BCL2 Binding Component 3) is a Protein Coding gene. Among its related pathways are Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins and Regulation of activated PAK-2p34 by proteasome mediated degradation.

UniProtKB/Swiss-Prot for BBC3 Gene

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

  • 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.

Gene Wiki entry for BBC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBC3 Gene

Genomics for BBC3 Gene

Regulatory Elements for BBC3 Gene

Enhancers for BBC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F047185 1.6 FANTOM5 Ensembl ENCODE 14.9 +44.3 44289 6.1 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF143 FOS ZNF263 SP5 JUNB SAE1 BBC3 MIR3191 CCDC9 GLTSCR1 MIR3190 ZC3H4
GH19F047154 1.2 Ensembl ENCODE 18.7 +75.6 75594 5.6 ELF3 PKNOX1 TBL1XR1 THRB YY1 RARA ZNF121 FOS CREM THAP11 BBC3 MIR3191 CCDC9 SAE1 TMEM160 ZC3H4 MIR3190
GH19F047209 1.3 Ensembl ENCODE 13.8 +22.6 22591 2.6 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A ZNF143 KLF13 ZNF263 REST ZC3H4 GLTSCR2-AS1 GLTSCR1 ENSG00000268810 CCDC9 BBC3 MIR3191 SLC1A5 SAE1 TMEM160
GH19F047105 1.6 FANTOM5 ENCODE 6.5 +122.7 122700 9.2 CREB3L1 MLX YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC CCDC9 ZC3H4 C5AR2 PRKD2 GLTSCR1 SNORD23 DHX34 TPRX2P ELSPBP1 GLTSCR2-AS1
GH19F047151 0.8 ENCODE 12.6 +80.3 80270 2.0 TAL1 ZBTB40 ZNF121 GATA3 CTBP1 NCOR1 SCRT2 FOSL2 FOS TCF7L2 MIR3191 BBC3 CCDC9 SAE1 ZC3H4 MIR3190
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BBC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for BBC3 Gene

Chromosome:
19
Start:
47,220,822 bp from pter
End:
47,232,996 bp from pter
Size:
12,175 bases
Orientation:
Minus strand

Genomic View for BBC3 Gene

Genes around BBC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBC3 Gene

Proteins for BBC3 Gene

  • Protein details for BBC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PG8-BBC3B_HUMAN
    Recommended name:
    Bcl-2-binding component 3
    Protein Accession:
    Q96PG8

    Protein attributes for BBC3 Gene

    Size:
    261 amino acids
    Molecular mass:
    26498 Da
    Quaternary structure:
    • Isoform 3 does not interact with BCL2.
    • Isoform 3 does not interact with BCL2.

    Alternative splice isoforms for BBC3 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for BBC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXH1-BBC3_HUMAN
    Recommended name:
    Bcl-2-binding component 3
    Protein Accession:
    Q9BXH1
    Secondary Accessions:
    • B9EGI3
    • O00171
    • Q96PG9

    Protein attributes for BBC3 Gene

    Size:
    193 amino acids
    Molecular mass:
    20532 Da
    Quaternary structure:
    • 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).
    • 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).

    Three dimensional structures from OCA and Proteopedia for BBC3 Gene

    Alternative splice isoforms for BBC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBC3 Gene

Post-translational modifications for BBC3 Gene

No data available for DME Specific Peptides for BBC3 Gene

Domains & Families for BBC3 Gene

Gene Families for BBC3 Gene

Protein Domains for BBC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BBC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXH1

UniProtKB/Swiss-Prot:

BBC3_HUMAN :
  • The BH3 motif is intrinsically disordered.
  • Belongs to the Bcl-2 family.
Domain:
  • The BH3 motif is intrinsically disordered.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BBC3: view

Function for BBC3 Gene

Molecular function for BBC3 Gene

UniProtKB/Swiss-Prot Function:
Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Isoform 3 fails to show any growth-inhibitory or apoptotic activity.
UniProtKB/Swiss-Prot Induction:
By DNA damage, glucocorticoid treatment, growth factor deprivation and p53/TP53.
UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Induction:
By DNA damage, glucocorticoid treatment, growth factor deprivation and p53. By ER stress in a DDIT3/CHOP-dependent manner.

Gene Ontology (GO) - Molecular Function for BBC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 26212789
GO:0005515 protein binding IPI 26212789
GO:0051117 ATPase binding IPI 26212789
genes like me logo Genes that share ontologies with BBC3: view
genes like me logo Genes that share phenotypes with BBC3: view

Animal Models for BBC3 Gene

MGI Knock Outs for BBC3:

Animal Model Products

miRNA for BBC3 Gene

miRTarBase miRNAs that target BBC3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BBC3 Gene

Localization for BBC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBC3 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BBC3 gene
Compartment Confidence
mitochondrion 5
cytosol 5
endoplasmic reticulum 3
nucleus 2

Gene Ontology (GO) - Cellular Components for BBC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,TAS 26212789
GO:0005741 mitochondrial outer membrane TAS --
GO:0005764 colocalizes_with lysosome IDA 26212789
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BBC3: view

Pathways & Interactions for BBC3 Gene

genes like me logo Genes that share pathways with BBC3: view

SIGNOR curated interactions for BBC3 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for BBC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS --
GO:0006915 apoptotic process IEA,IMP 26212789
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA --
GO:0006974 cellular response to DNA damage stimulus ISS --
GO:0008340 determination of adult lifespan ISS --
genes like me logo Genes that share ontologies with BBC3: view

Drugs & Compounds for BBC3 Gene

(2) Drugs for BBC3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for BBC3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BBC3: view

Transcripts for BBC3 Gene

Unigene Clusters for BBC3 Gene

BCL2 binding component 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBC3 Gene

No ASD Table

Relevant External Links for BBC3 Gene

GeneLoc Exon Structure for
BBC3
ECgene alternative splicing isoforms for
BBC3

Expression for BBC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BBC3 Gene

mRNA differential expression in normal tissues according to GTEx for BBC3 Gene

This gene is overexpressed in Whole Blood (x5.2).

Protein differential expression in normal tissues from HIPED for BBC3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.3) and CD8 Tcells (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BBC3 Gene



Protein tissue co-expression partners for BBC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BBC3 Gene:

BBC3

SOURCE GeneReport for Unigene cluster for BBC3 Gene:

Hs.467020

mRNA Expression by UniProt/SwissProt for BBC3 Gene:

Q96PG8-BBC3B_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with BBC3: view

Primer Products

Orthologs for BBC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BBC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBC3 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia BBC3 34
  • 93.96 (n)
rat
(Rattus norvegicus)
Mammalia Bbc3 34
  • 89.29 (n)
mouse
(Mus musculus)
Mammalia Bbc3 34 16
  • 89.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20864 34
Species where no ortholog for BBC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BBC3 Gene

ENSEMBL:
Gene Tree for BBC3 (if available)
TreeFam:
Gene Tree for BBC3 (if available)

Paralogs for BBC3 Gene

No data available for Paralogs for BBC3 Gene

Variants for BBC3 Gene

Sequence variations from dbSNP and Humsavar for BBC3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10407441 -- 47,227,858(+) AGGAC(A/C)CAGAC intron-variant, upstream-variant-2KB
rs10417760 -- 47,233,735(+) acaat(A/G)gatag upstream-variant-2KB
rs10418105 -- 47,234,042(+) CTTTA(C/G)TGAGA upstream-variant-2KB
rs10418396 -- 47,234,299(+) cTTTG(A/G)CCAGA upstream-variant-2KB
rs10451444 -- 47,231,786(+) CCACA(C/T)TGATG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BBC3 Gene

Variant ID Type Subtype PubMed ID
nsv833852 CNV loss 17160897
nsv819260 CNV loss 19587683
nsv1067417 CNV gain 25217958
esv3413545 CNV duplication 20981092
esv26583 CNV loss 19812545

Variation tolerance for BBC3 Gene

Gene Damage Index Score: 0.71; 14.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBC3 Gene

Disorders for BBC3 Gene

Relevant External Links for BBC3

Genetic Association Database (GAD)
BBC3
Human Genome Epidemiology (HuGE) Navigator
BBC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBC3

No disorders were found for BBC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BBC3 Gene

Publications for BBC3 Gene

  1. Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals. (PMID: 11572983) Han J.-W. … Chittenden T. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 22 64
  2. PUMA, a novel proapoptotic gene, is induced by p53. (PMID: 11463392) Nakano K. … Wousden K.H. (Mol. Cell 2001) 2 3 4 64
  3. PUMA induces the rapid apoptosis of colorectal cancer cells. (PMID: 11463391) Yu J. … Vogelstein B. (Mol. Cell 2001) 3 4 22 64
  4. PUMA binding induces partial unfolding within BCL-xL to disrupt p53 binding and promote apoptosis. (PMID: 23340338) Follis A.V. … Kriwacki R.W. (Nat. Chem. Biol. 2013) 3 4 64
  5. CHOP potentially co-operates with FOXO3a in neuronal cells to regulate PUMA and BIM expression in response to ER stress. (PMID: 22761832) Ghosh A.P. … Roth K.A. (PLoS ONE 2012) 3 4 64

Products for BBC3 Gene

Sources for BBC3 Gene

Content
Loading form....