BBC3 (BCL2 binding component 3)
2004-08-01 Jean-Loup Huret , Sylvie Senon AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
JFY-1,JFY1,PUMA
FUSION GENES
DNA/RNA
Description
The gene spans 12kb on the reverse strand; 8 exons
Transcription
numerous transcripts
Proteins
Description
multiple isoforms; BH3 only protein (the BH3 domain is essential for proapoptotic function).
Expression
wide
Localisation
mitochondria
Function
BBC3 is transcriptionally induced upon diverse apoptotic stimuli to induce apoptosis via the mitochondrial apoptotic pathway. BBC3 is transcriptionally activated by p53; it is also upregulated after endoplasmic reticulum stress, independantly to P53 status. BBC3 is also transactvated by p73, a p53 related protein with, also, G1 cell cycle arrest and apoptosis functions. BBC3 induces BAX conformational change and multimerization.
Homology
Bcl2 family members:
The antiapoptotic members with BH 1 to 4 domains: BCL2 (18q21), BCL1L1/BCLX-L (20q11), BCL2L2/BCL-W (14q11), BCL1L10/BCL-B/BOO/DIVA (15q21), BCL2A1/BFL1/A1 (15q24), BNIP1/EIB-19K (5q33), MCL1 (1q21)
The proapoptotic members with BH 1 to 3 domains: BAK1/BCL2L7 (6p21), BAX (19q13), BCL2L13/BCL-Rambo/MIL1 (22q11), BOK/MTD/BCL2L9 (2q37)
The only-BH3 apoptotic members: BAD/BCL2L8/BBC2 (11q13), BCL2L11/BIM/BOD (2q13), BID (22q11), BIK/NBK/BBC1 (22q13), BLK (8p23), BMF (15q14), BNIP3/NIP3 (10q26), BMIP3L/NIX (8p21), HRK/DP5/BID3 (12q24), PMAIP1/NOXA (18q21)
Implicated in
Note
BBC3 mediates apoptosis in various cancer cells.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 14996500 | 2004 | Control of proliferation by Bcl-2 family members. | Bonnefoy-Berard N et al |
| 11572983 | 2001 | Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals. | Han J et al |
| 14550297 | 2003 | Bax conformational change is a crucial step for PUMA-mediated apoptosis in human leukemia. | Liu FT et al |
| 14634023 | 2004 | p73 Induces apoptosis via PUMA transactivation and Bax mitochondrial translocation. | Melino G et al |
| 11463392 | 2001 | PUMA, a novel proapoptotic gene, is induced by p53. | Nakano K et al |
| 14996493 | 2004 | Structural biology of the Bcl-2 family of proteins. | Petros AM et al |
| 12913114 | 2003 | Gene expression during ER stress-induced apoptosis in neurons: induction of the BH3-only protein Bbc3/PUMA and activation of the mitochondrial apoptosis pathway. | Reimertz C et al |
| 14996494 | 2004 | Bcl-2 family members: integrators of survival and death signals in physiology and pathology [corrected]. | Schinzel A et al |
| 14996501 | 2004 | Bcl-2 family members and disease. | Sorenson CM et al |
| 12022949 | 2002 | The voltage-dependent anion channel: an essential player in apoptosis. | Tsujimoto Y et al |
| 12574499 | 2003 | PUMA mediates the apoptotic response to p53 in colorectal cancer cells. | Yu J et al |
| 11463391 | 2001 | PUMA induces the rapid apoptosis of colorectal cancer cells. | Yu J et al |
Other Information
Locus ID:
NCBI: 27113
MIM: 605854
HGNC: 17868
Ensembl: ENSG00000105327
Variants:
dbSNP: 27113
ClinVar: 27113
TCGA: ENSG00000105327
COSMIC: BBC3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000105327 | ENST00000300880 | Q96PG8 |
| ENSG00000105327 | ENST00000341983 | Q9BXH1 |
| ENSG00000105327 | ENST00000439096 | Q9BXH1 |
| ENSG00000105327 | ENST00000449228 | Q96PG8 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36122664 | 2022 | PUMA overexpression dissociates thioredoxin from ASK1 to activate the JNK/BCL-2/BCL-XL pathway augmenting apoptosis in ovarian cancer. | 2 |
| 36508676 | 2022 | Synthetical lethality of Werner helicase and mismatch repair deficiency is mediated by p53 and PUMA in colon cancer. | 9 |
| 36122664 | 2022 | PUMA overexpression dissociates thioredoxin from ASK1 to activate the JNK/BCL-2/BCL-XL pathway augmenting apoptosis in ovarian cancer. | 2 |
| 36508676 | 2022 | Synthetical lethality of Werner helicase and mismatch repair deficiency is mediated by p53 and PUMA in colon cancer. | 9 |
| 33631672 | 2021 | Structural basis of the p53 DNA binding domain and PUMA complex. | 6 |
| 33785736 | 2021 | PUMA facilitates EMI1-promoted cytoplasmic Rad51 ubiquitination and inhibits DNA repair in stem and progenitor cells. | 5 |
| 34239363 | 2021 | Recombinant human bone morphogenetic protein 2 and 7 inhibit the degeneration of intervertebral discs by blocking the Puma-dependent apoptotic signaling. | 7 |
| 34461288 | 2021 | High glucose mediates the ChREBP/p300 transcriptional complex to activate proapoptotic genes Puma and BAX and contributes to intervertebral disc degeneration. | 6 |
| 34587475 | 2021 | FBXL20 promotes breast cancer malignancy by inhibiting apoptosis through degradation of PUMA and BAX. | 4 |
| 34636989 | 2021 | Genome-wide mRNA profiling identifies X-box-binding protein 1 (XBP1) as an IRE1 and PUMA repressor. | 15 |
| 34874225 | 2021 | Long non-coding RNA HOTAIRincreased mechanical stimulation-induced apoptosis by regulating microRNA-221/BBC3 axis in C28/I2 cells. | 6 |
| 34903507 | 2021 | Expression of p53 up-regulated modulator of apoptosis (PUMA) in non-melanoma skin cancer of long-term immunosuppressed solid organ transplant recipients compared to immunocompetent patients. | 0 |
| 33631672 | 2021 | Structural basis of the p53 DNA binding domain and PUMA complex. | 6 |
| 33785736 | 2021 | PUMA facilitates EMI1-promoted cytoplasmic Rad51 ubiquitination and inhibits DNA repair in stem and progenitor cells. | 5 |
| 34239363 | 2021 | Recombinant human bone morphogenetic protein 2 and 7 inhibit the degeneration of intervertebral discs by blocking the Puma-dependent apoptotic signaling. | 7 |
Citation
Jean-Loup Huret ; Sylvie Senon
BBC3 (BCL2 binding component 3)
Atlas Genet Cytogenet Oncol Haematol. 2004-08-01
Online version: http://atlasgeneticsoncology.org/gene/759/bbc3-(bcl2-binding-component-3)
