Aliases & Descriptions for BBC3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases & Descriptions |
|---|
| BCL2 binding component 31 2 | | p53 up-regulated modulator of apoptosis2 3 | | PUMA1 2 3 5 | | FLJ429942 | | JFY11 2 | | bcl-2-binding component 32 | | JFY-12 3 | | |
Export aliases for BBC3 gene to outside databasesPrevious GC identifers: GC19M048367 GC19M048114 GC19M052400 GC19M052415 GC19M047724 |
Summaries for BBC3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1Function: Essential mediator of p53-dependent and p53-independent apoptosis
|
Genomic Views for BBC3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences) About This Section
| Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BBC3 gene promoter: NRSF form 2 NRSF form 1 Sp1 PPAR-gamma2 PPAR-gamma1 STAT3 STAT5A Other transcription factors
Search SABiosciences Chromatin IP Primers for BBC3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for BBC3  |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.3-q13.4 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.3-q13.4BBC3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M044148: view genomic region
(about GC identifiers)
Start:
|
44,148,994 bp from pter |
End:
|
44,171,276 bp from pter |
Size:
|
22,283 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr19- 47,724,079-47,736,023 |
RefSeq DNA sequence:- NC_000019.9 NT_011109.16
|
Proteins for BBC3 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
| UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1 (See
protein sequence)Recommended Name: Bcl-2-binding component 3 Size: 193 amino acids; 20532 Da
Subunit: Interacts with MCL1 and BCL2A1 (By similarity). Interacts with BCL2 and BCL2L1/BCL-XL
Subcellular location: Mitochondrion. Note=Localized to the mitochondria in order to induce cytochrome c release
Secondary accessions: B9EGI3 O00171 Q96PG9Alternative splicing: 2 isoforms: Q9BXH1-1 Q9BXH1-2 Explore the universe of human proteins at neXtProt for BBC3: NX_Q9BXH1 
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (4 alternative transcripts):
NP_001120712.1 NP_001120713.1 NP_001120714.1 NP_055232.1
ENSEMBL proteins: ENSP00000404503 ENSP00000300880 ENSP00000341155 ENSP00000352999 ENSP00000395862
Human Recombinant Proteins
3 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
BBC3 for ontologies About GeneDecksing
Antibodies for BBC3: Assays for BBC3: |
Protein
Domains/ Families for BBC3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9BXH1 UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1Similarity: Belongs to the Bcl-2 family |
Gene Function for BBC3 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
| UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1Function: Essential mediator of p53-dependent and p53-independent apoptosisInduction: By DNA damage, glucocorticoid treatment, growth factor deprivation and TP53/p53
1 Gene Ontology (GO) molecular function term (GO ID links to tree view): About this table
BBC3 for ontologies About GeneDecksing
Animal Models: 9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Bbc3):
BBC3 for phenotypes About GeneDecksing
|
Pathways & Interactions for BBC3 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
BBC3 for pathways About GeneDecksing
1 Millipore Pathway for BBC3 3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for BBC3
1
Cell Signaling Technology (CST) Pathway for BBC3 2 Kegg Pathways (Kegg details for BBC3): SABiosciences Pathway-Focused PCR Arrays including BBC3: PAHS-087A PAHS-3012A 
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for BBC3 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BBC3
5/9 Interacting proteins for BBC3 (Q9BXH11, 2 ENSP000003529993) via UniProtKB, MINT, and/or STRING (see all 9)About this table
5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7): About this table
BBC3 for ontologies About GeneDecksing
|
Drugs & Compounds for BBC3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
BBC3 for compounds About GeneDecksing
Browse Tocris compounds for BBC3 3 Novoseek chemical compound relationships for BBC3 gene
About this table
|
Transcripts for BBC3 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences) About This Section
|
REFSEQ mRNAs for BBC3 gene (4 alternative transcripts): NM_001127240.1 NM_001127241.1 NM_001127242.1 NM_014417.3 Additional cDNA sequence: AF332558.1 AF354654.1 AF354655.1 AF354656.1 AK124984.1 AK298837.1 BC136481.1 U82987.1 8 DOTS entries: DT.97840863 DT.100809683 DT.97840861 DT.100811197 DT.91758057 DT.97840862 DT.75108932 DT.91948036 24/45 AceView cDNA sequences (see all 45): CA443400 CA315005 AI784404 BM725137 BX280221 AI791900 AW088635 AA729307 AI469678 AF354654 BE545472 AF354656 BG391239 BG258126 AI698647 AL079699 NM_014417 AI688112 BX346254 AF332558 BM785931 CA313069 AK124984 AF354655
highest scoring ESTs for BBC3:U82987 AF332558 AF354654 AF354655 AF354656 BX280221 AA587620 AI469678 AI688112 AI698647 Unigene Cluster for BBC3: BCL2 binding component 3 Hs.467020 [show with all ESTs]Unigene Representative Sequence: NM_014417
GeneLoc Exon Structure
5 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000449228(uc010xyl.1) ENST00000300880 ENST00000341983(uc010eky.2 uc010ekz.2) ENST00000359924 ENST00000439096(uc002pgf.3)
|
Expression for BBC3 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| BBC3 expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching BBC3 gene
Affymetrix probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 1700_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
1.00 |
1.00 |
U82987 |
1.00 |
1.00 |
1.00 |
1 |
| 211692_s_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
AF332558 |
0.80 |
1.00 |
0.91 |
1 |
| 211692_s_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
BBC3 for expression About GeneDecksing
Data from
Genenote 
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: ATTTTTGTAT
SOURCE GeneReport for Unigene cluster: Hs.467020
Expression variation in blood from EXPOLDB for BBC3 UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1Tissue specificity: Ubiquitously expressed SABiosciences Expression via Pathway-Focused PCR Arrays including BBC3: PAHS-087A PAHS-3012A 
|
Orthologs for BBC3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for BBC3 gene from 4 species
About this table Species with no ortholog for BBC3
ENSEMBL Gene Tree for BBC3 (if available) |
Paralogs for BBC3 gene(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
Genomic Variants for BBC3 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 19 pos | Sequence | Recs | AA Chg | Type | More | Recs | Allele freq | Pop | Total sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for BBC3 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for BBC3 2 CNVs: 67572 58883 |  | QIAGEN SeqTarget long-range PCR primers for resequencing BBC3  |
|
Disorders & Mutations for BBC3 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BBC3 for disorders About GeneDecksing
OMIM: 605854
6 Novoseek disease relationships for BBC3 gene
About this table
Human Genome Epidemiology (HuGE) Navigator: BBC3 (1 document) Export disorders and mutations for BBC3 gene to outside databases
|
Medical News for BBC3 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for BBC3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
| 10/121 PubMed articles for BBC3 gene, integrated from 7 sources (see all 121): (articles sorted by number of sources associating them with BBC3)- Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals. (PubMed id 11572983)1, 2, 3, 7 Han J.-W.... Chittenden T. (2001)
- PUMA, a novel proapoptotic gene, is induced by p53. (PubMed id 11463392)1, 2, 3 Nakano K. and Wousden K.H. (2001)
- PUMA induces the rapid apoptosis of colorectal cancer cells. (PubMed id 11463391)1, 2, 7 Yu J.... Vogelstein B. (2001)
- Expressional and mutational analysis of pro-apoptotic Bcl-2 member PUMA in hepatocellular carcinomas. (PubMed id 17934815)1, 7 Ahn C.H....Lee S.H. (2008)
- Pro-apoptotic PUMA and anti-apoptotic phospho-BAD are highly expressed in colorectal carcinomas. (PubMed id 17393317)1, 7 Kim M.R....Lee S.H. (2007)
- PUMA Dissociates Bax and Bcl-X(L) to induce apoptosis in colon cancer cells. (PubMed id 16608847)1, 7 Ming L....Zhang L. (2006)
- BBC3 mediates fenretinide-induced cell death in neuroblastoma. (PubMed id 16091745)1, 7 Wei J.S....Khan J. (2005)
- Bax activation by the BH3-only protein Puma promotes cell dependence on antiapoptotic Bcl-2 family members. (PubMed id 19380879)1, 7 Gallenne T....Juin P. (2009)
- PUMA mediates the apoptotic response to p53 in colorectal cancer cells. (PubMed id 12574499)1, 7 Yu J....Zhang L. (2003)
- p73 Induces apoptosis via PUMA transactivation and Bax mitochondrial translocation. (PubMed id 14634023)1, 7 Melino G....Vousden K.H. (2004)
|
External Searches for BBC3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing BBC3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BBC3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BBC3 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
|
About This Section
| Patent Information for BBC3 gene: Search GeneIP for patents involving BBC3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for BBC3 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn, Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences) About This Section
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| Antibodies & Assays for BBC3  (PUMA) |
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