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Bbc3 BCL2 binding component 3 [ Mus musculus (house mouse) ]

Gene ID: 170770, updated on 28-Oct-2024

Summary

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Official Symbol
Bbc3provided by MGI
Official Full Name
BCL2 binding component 3provided by MGI
Primary source
MGI:MGI:2181667
See related
Ensembl:ENSMUSG00000002083 AllianceGenome:MGI:2181667
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PUMA; PUMA/JFY1
Summary
Predicted to enable ATPase binding activity. Involved in several processes, including determination of adult lifespan; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and positive regulation of apoptotic process. Acts upstream of or within several processes, including intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; positive regulation of apoptotic process; and positive regulation of establishment of protein localization to mitochondrion. Predicted to be located in mitochondrial envelope. Predicted to be active in mitochondrion. Predicted to colocalize with lysosome. Is expressed in several structures, including central nervous system; immune system; liver; retina; and skeletal muscle. Orthologous to human BBC3 (BCL2 binding component 3). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 7.3), mammary gland adult (RPKM 6.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Bbc3 in Genome Data Viewer
Location:
7 A2; 7 8.85 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (16042307..16052130)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (16308398..16318334)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene complement component 5a receptor 1 Neighboring gene STARR-positive B cell enhancer ABC_E3699 Neighboring gene InaF motif containing 1 Neighboring gene coiled-coil domain containing 9 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:16880265-16880374 Neighboring gene STARR-positive B cell enhancer ABC_E6516 Neighboring gene STARR-seq mESC enhancer starr_18129 Neighboring gene STARR-seq mESC enhancer starr_18130 Neighboring gene SUMO1 activating enzyme subunit 1 Neighboring gene predicted gene, 57781 Neighboring gene STARR-seq mESC enhancer starr_18132 Neighboring gene STARR-positive B cell enhancer ABC_E4898 Neighboring gene STARR-seq mESC enhancer starr_18133 Neighboring gene zinc finger CCCH-type containing 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Microglia-derived TNFα induces apoptosis in neural precursor cells via transcriptional activation of the Bcl-2 family member Puma. Guadagno J, et al. Cell Death Dis, 2013 Mar 14. PMID 23492769, Free PMC Article
  2. Effects of transient focal cerebral ischemia in mice deficient in puma. Kuroki K, et al. Neurosci Lett, 2009 Feb 27. PMID 19159665
  3. Deletion of Puma protects hippocampal neurons in a model of severe status epilepticus. Engel T, et al. Neuroscience, 2010 Jun 30. PMID 20362645, Free PMC Article
  4. Puma deletion delays cardiac dysfunction in murine heart failure models through attenuation of apoptosis. Mandl A, et al. Circulation, 2011 Jul 5. PMID 21670227
  5. Proliferative and survival effects of PUMA promote angiogenesis. Zhang F, et al. Cell Rep, 2012 Nov 29. PMID 23122957

See all (251) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. P53 and BCL-2 family proteins PUMA and NOXA define competitive fitness in pluripotent cell competition.
    Title: P53 and BCL-2 family proteins PUMA and NOXA define competitive fitness in pluripotent cell competition.
  2. Combined absence of TRP53 target genes ZMAT3, PUMA and p21 cause a high incidence of cancer in mice.
    Title: Combined absence of TRP53 target genes ZMAT3, PUMA and p21 cause a high incidence of cancer in mice.
  3. Contribution of Puma to Inflammatory Resolution During Early Pneumococcal Pneumonia.
    Title: Contribution of Puma to Inflammatory Resolution During Early Pneumococcal Pneumonia.
  4. Puma- and Caspase9-mediated apoptosis is dispensable for p53-driven neural crest-based developmental defects.
    Title: Puma- and Caspase9-mediated apoptosis is dispensable for p53-driven neural crest-based developmental defects.
  5. DNA repair in primordial follicle oocytes following cisplatin treatment.
    Title: DNA repair in primordial follicle oocytes following cisplatin treatment.
  6. PUMA-mediated epithelial cell apoptosis promotes Helicobacter pylori infection-mediated gastritis.
    Title: PUMA-mediated epithelial cell apoptosis promotes Helicobacter pylori infection-mediated gastritis.
  7. IL-6-driven FasL promotes NF-kappaBp65/PUMA-mediated apoptosis in portal hypertensive gastropathy.
    Title: IL-6-driven FasL promotes NF-κBp65/PUMA-mediated apoptosis in portal hypertensive gastropathy.
  8. RIP1/JNK-dependent-PUMA induction mediates acetaminophen-induced liver injury by promoting hepatocyte mitochondrial dysfunction and necrosis.
    Title: p53 Up-regulated Modulator of Apoptosis Induction Mediates Acetaminophen-Induced Necrosis and Liver Injury in Mice.
  9. These studies identify PUMA as a crucial effector of apoptosis responsible for depletion of primordial follicles.
    Title: Loss of PUMA protects the ovarian reserve during DNA-damaging chemotherapy and preserves fertility.
  10. The study suggests that targeting MIAT may protect against cardiomyocytes against hypoxia-reperfusion injury or myocardial ischemia-reperfusion injury via inhibition of cell apoptosis, mediated by NF-kappaB and PUMA signaling pathway.
    Title: Targeting MIAT reduces apoptosis of cardiomyocytes after ischemia/reperfusion injury.
Submit: New GeneRIF Correction See all GeneRIFs (120)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (2)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of T cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in apoptotic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cellular response to ionizing radiation IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in determination of adult lifespan IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in execution phase of apoptosis ISO
Inferred from Sequence Orthology
more info
  
involved_in execution phase of apoptosis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
acts_upstream_of fibroblast apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intrinsic apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within intrinsic apoptotic signaling pathway by p53 class mediator ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of lymphocyte apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of cell growth ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in negative regulation of growth ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of growth ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
acts_upstream_of_or_within positive regulation of T cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of positive regulation of establishment of protein localization to mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of establishment of protein localization to mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of fibroblast apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of intrinsic apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of intrinsic apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within positive regulation of lymphocyte apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of release of cytochrome c from mitochondria IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of release of cytochrome c from mitochondria ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of thymocyte apoptotic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in release of cytochrome c from mitochondria IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in release of cytochrome c from mitochondria ISO
Inferred from Sequence Orthology
more info
  
involved_in release of cytochrome c from mitochondria ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to endoplasmic reticulum stress ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
colocalizes_with lysosome ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrial envelope ISO
Inferred from Sequence Orthology
more info
 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 

General protein information

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Preferred Names
bcl-2-binding component 3
Names
BH3-only
Bcl-2 binding component 3
p53 up-regulated modulator of apoptosis

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001382549.1 → NP_001369478.1  bcl-2-binding component 3 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC156630
    UniProtKB/Swiss-Prot
    Q99ML1
    UniProtKB/TrEMBL
    B2RVL4
    Conserved Domains (1) summary
    pfam15826
    Location:2 → 193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis

  2. NM_001382550.1 → NP_001369479.1  bcl-2-binding component 3 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC156630
    UniProtKB/Swiss-Prot
    Q99ML1
    UniProtKB/TrEMBL
    B2RVL4
    Conserved Domains (1) summary
    pfam15826
    Location:2 → 193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis

  3. NM_001382552.1 → NP_001369481.1  bcl-2-binding component 3 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC156630
    UniProtKB/Swiss-Prot
    Q99ML1
    UniProtKB/TrEMBL
    B2RVL4
    Conserved Domains (1) summary
    pfam15826
    Location:2 → 193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis

  4. NM_001403671.1 → NP_001390600.1  bcl-2-binding component 3 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC156630
    UniProtKB/Swiss-Prot
    Q99ML1
    UniProtKB/TrEMBL
    B2RVL4

  5. NM_001403672.1 → NP_001390601.1  bcl-2-binding component 3 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC156630
    UniProtKB/Swiss-Prot
    Q99ML1
    UniProtKB/TrEMBL
    B2RVL4

  6. NM_001403673.1 → NP_001390602.1  bcl-2-binding component 3 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC156630
    UniProtKB/Swiss-Prot
    Q99ML1
    UniProtKB/TrEMBL
    B2RVL4

  7. NM_001403674.1 → NP_001390603.1  bcl-2-binding component 3 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC156630

  8. NM_001403675.1 → NP_001390604.1  bcl-2-binding component 3 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC156630

  9. NM_133234.3 → NP_573497.1  bcl-2-binding component 3 isoform a

    See identical proteins and their annotated locations for NP_573497.1

    Status: VALIDATED

    Source sequence(s)
    AC156630
    Consensus CDS
    CCDS20847.1
    UniProtKB/Swiss-Prot
    Q99ML1
    UniProtKB/TrEMBL
    B2RVL4
    Related
    ENSMUSP00000002152.7, ENSMUST00000002152.13
    Conserved Domains (1) summary
    pfam15826
    Location:2 → 193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    16042307..16052130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006539578.5 → XP_006539641.1  bcl-2-binding component 3 isoform X2

    See identical proteins and their annotated locations for XP_006539641.1

    UniProtKB/Swiss-Prot
    Q99ML1
    UniProtKB/TrEMBL
    B2RVL4
    Conserved Domains (1) summary
    pfam15826
    Location:2 → 193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001382551.1: Suppressed sequence

    Description
    NM_001382551.1: This RefSeq was removed because currently there is insufficient support for the transcript.

  2. NM_001382553.1: Suppressed sequence

    Description
    NM_001382553.1: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99ML1.1 GenPept UniProtKB/Swiss-Prot:Q99ML1

Gene LinkOut

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