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Aliases for BBC3 Gene

Aliases for BBC3 Gene

  • BCL2 Binding Component 3 2 3
  • PUMA 3 4 6
  • P53 Up-Regulated Modulator Of Apoptosis 3 4
  • JFY-1 3 4
  • Bcl-2-Binding Component 3 3
  • JFY1 3

External Ids for BBC3 Gene

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. Diseases associated with BBC3 include colorectal cancer. Among its related pathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts.

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

Genomic Location for BBC3 Gene

Start:
47,220,822 bp from pter
End:
47,232,853 bp from pter
Size:
12,032 bases
Orientation:
Minus strand

Genomic View for BBC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBC3 Gene

Regulatory Elements for BBC3 Gene

Transcription factor binding sites by QIAGEN in the BBC3 gene promoter:

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
    Secondary Accessions:

    Protein attributes for BBC3 Gene

    Size:
    261 amino acids
    Molecular mass:
    26498 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for BBC3 Gene

    Alternative splice isoforms for BBC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBC3 Gene

Proteomics data for BBC3 Gene at MOPED

Post-translational modifications for BBC3 Gene

Other Protein References for BBC3 Gene

No data available for DME Specific Peptides for BBC3 Gene

Domains for BBC3 Gene

Protein Domains for BBC3 Gene

ProtoNet:

UniProtKB/Swiss-Prot:

BBC3_HUMAN
Domain:
  • The BH3 motif is intrinsically disordered.:
    • Q9BXH1
Family:
  • Belongs to the Bcl-2 family.:
    • Q9BXH1
genes like me logo Genes that share domains with BBC3: view

No data available for Gene Families for BBC3 Gene

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:0005515 protein binding IPI 11463391
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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for BBC3 Gene COMPARTMENTS Subcellular localization image for BBC3 gene
Compartment Confidence
mitochondrion 5
cytosol 4
endoplasmic reticulum 2
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BBC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BBC3: view

Pathways for BBC3 Gene

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

Gene Ontology (GO) - Biological Process for BBC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001836 release of cytochrome c from mitochondria IDA 11463392
GO:0006915 apoptotic process TAS --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 11463392
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

Compounds for BBC3 Gene

(3) Novoseek inferred chemical compound relationships for BBC3 Gene

Compound -log(P) Hits PubMed IDs
noxa 89.4 14
etoposide 12.2 1
oxygen 1.03 1
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:

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 for BBC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BBC3 Gene

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 expressions with BBC3: view

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 36
  • 99.48 (n)
  • 99.48 (a)
BBC3 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBC3 36
  • 93.96 (n)
  • 95.85 (a)
mouse
(Mus musculus)
Mammalia Bbc3 36
  • 89.12 (n)
  • 90.67 (a)
Bbc3 16
rat
(Rattus norvegicus)
Mammalia Bbc3 36
  • 89.29 (n)
  • 91.19 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20864 36
Species with no ortholog for BBC3:
  • 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 MAF
rs2032809 -- 47,232,959(-) AGAGG(A/G)GGGAA upstream-variant-2KB
rs2032810 -- 47,223,438(-) aggtg(C/T)gtgcc intron-variant
rs2862236 -- 47,221,435(+) CCCCC(C/T)CCCAG utr-variant-3-prime
rs5828297 -- 47,233,092(+) TTTTT(-/T)GAGAC upstream-variant-2KB
rs7247438 -- 47,224,123(+) aaccc(C/T)gtctc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833852 CNV Loss 17160897
nsv912196 CNV Loss 21882294
dgv3963n71 CNV Loss 21882294
nsv819260 CNV Loss 19587683
esv26583 CNV Loss 19812545

Relevant External Links for BBC3 Gene

HapMap Linkage Disequilibrium report
BBC3

Disorders for BBC3 Gene

(1) MalaCards Diseases for BBC3 Gene

Search for BBC3 Gene in MalaCards »

(6) Novoseek inferred disease relationships for BBC3 Gene

Disease -log(P) Hits PubMed IDs
myeloma 37.6 1
cancer 32.8 9
tumors 28.9 3
colorectal cancer 28.4 6
melanoma 4.04 3

Relevant External Links for BBC3

Genetic Association Database (GAD)
BBC3
Human Genome Epidemiology (HuGE) Navigator
BBC3
genes like me logo Genes that share disorders with BBC3: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. PUMA, a novel proapoptotic gene, is induced by p53. (PMID: 11463392) Nakano K. … Wousden K.H. (Mol. Cell 2001) 2 3 4
  3. PUMA induces the rapid apoptosis of colorectal cancer cells. (PMID: 11463391) Yu J. … Vogelstein B. (Mol. Cell 2001) 3 4 23
  4. Gene-specific repression of the p53 target gene PUMA via intragenic CTCF-Cohesin binding. (PMID: 20478995) Gomes N.P. … Espinosa J.M. (Genes Dev. 2010) 3 23
  5. BBC3 mediates fenretinide-induced cell death in neuroblastoma. (PMID: 16091745) Wei J.S. … Khan J. (Oncogene 2005) 3 23

Products for BBC3 Gene

  • Addgene plasmids for BBC3

Sources for BBC3 Gene

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