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

    Gene ID: 170770, updated on 2-Nov-2024

    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 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, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 7.3), mammary gland adult (RPKM 6.3) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001382549.1NP_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:2193
      PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
    2. NM_001382550.1NP_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:2193
      PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
    3. NM_001382552.1NP_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:2193
      PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
    4. NM_001403671.1NP_001390600.1  bcl-2-binding component 3 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC156630
      UniProtKB/Swiss-Prot
      Q99ML1
      UniProtKB/TrEMBL
      B2RVL4
    5. NM_001403672.1NP_001390601.1  bcl-2-binding component 3 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC156630
      UniProtKB/Swiss-Prot
      Q99ML1
      UniProtKB/TrEMBL
      B2RVL4
    6. NM_001403673.1NP_001390602.1  bcl-2-binding component 3 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC156630
      UniProtKB/Swiss-Prot
      Q99ML1
      UniProtKB/TrEMBL
      B2RVL4
    7. NM_001403674.1NP_001390603.1  bcl-2-binding component 3 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC156630
    8. NM_001403675.1NP_001390604.1  bcl-2-binding component 3 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC156630
    9. NM_133234.3NP_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:2193
      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_006539578.5XP_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:2193
      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.