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

Summary

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 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; positive regulation of apoptotic process; and positive regulation of cysteine-type endopeptidase activity. Acts upstream of or within several processes, including intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway; and toxin transport. 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. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma. Orthologous to human BBC3 (BCL2 binding component 3). [provided by Alliance of Genome Resources, Apr 2022]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Contribution of Puma to Inflammatory Resolution During Early Pneumococcal Pneumonia.
Title: Contribution of Puma to Inflammatory Resolution During Early Pneumococcal Pneumonia.
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.
DNA repair in primordial follicle oocytes following cisplatin treatment.
Title: DNA repair in primordial follicle oocytes following cisplatin treatment.
PUMA-mediated epithelial cell apoptosis promotes Helicobacter pylori infection-mediated gastritis.
Title: PUMA-mediated epithelial cell apoptosis promotes Helicobacter pylori infection-mediated gastritis.
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.
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.
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.
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 (3)
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

RH70710 (e-PCR)
- UniSTS:9537

BBC3_3813 (e-PCR)
- UniSTS:463239

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	IBA Inferred from Biological aspect of Ancestor more info
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
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 apoptotic process	IEA Inferred from Electronic Annotation more info
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
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	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	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)

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

Status: VALIDATED

Source sequence(s)

AC156630
NM_001403675.1 → NP_001390604.1 bcl-2-binding component 3 isoform c

Status: VALIDATED

Source sequence(s)

AC156630
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

16042307..16052130

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NM_001382551.1: Suppressed sequence

Description

NM_001382551.1: This RefSeq was removed because currently there is insufficient support for the transcript.
NM_001382553.1: Suppressed sequence

Description

NM_001382553.1: This RefSeq was removed because currently there is insufficient support for the transcript.