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

Gene ID: 170770, updated on 11-Jan-2022

Summary

Official Symbol
Bbc3provided by MGI
Official Full Name
BCL2 binding component 3provided by MGI
Primary source
MGI:MGI:2181667
See related
Ensembl:ENSMUSG00000002083
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, Nov 2021]
Expression
Ubiquitous expression in adrenal adult (RPKM 7.3), mammary gland adult (RPKM 6.3) and 28 other tissues See more
Orthologs
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Genomic context

See Bbc3 in Genome Data Viewer
Location:
7; 7 A2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (16042307..16052259)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (16308398..16318334)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (16894932..16903683)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene complement component 5a receptor 1 Neighboring gene InaF motif containing 1 Neighboring gene coiled-coil domain containing 9 Neighboring gene uncharacterized LOC118567473 Neighboring gene SUMO1 activating enzyme subunit 1 Neighboring gene zinc finger CCCH-type containing 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
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 DNA damage stimulus IGI
Inferred from Genetic Interaction
more info
PubMed 
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
PubMed 
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 
involved_in intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
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
PubMed 
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_or_within negative regulation of cell growth ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in negative regulation of endoplasmic reticulum calcium ion concentration ISO
Inferred from Sequence Orthology
more info
 
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 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 
involved_in positive regulation of intrinsic apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway ISO
Inferred from Sequence Orthology
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
PubMed 
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
PubMed 
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 release of sequestered calcium ion into cytosol ISO
Inferred from Sequence Orthology
more info
 
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
 
acts_upstream_of_or_within toxin transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of PUMA-BCL-xl complex ISO
Inferred from Sequence Orthology
more info
 
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
PubMed 
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)

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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_001382549.1NP_001369478.1  bcl-2-binding component 3

    Status: VALIDATED

    Source sequence(s)
    AC156630
    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

    Status: VALIDATED

    Source sequence(s)
    AC156630
    Conserved Domains (1) summary
    pfam15826
    Location:2193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
  3. NM_001382551.1NP_001369480.1  bcl-2-binding component 3

    Status: VALIDATED

    Source sequence(s)
    AC156630
    Conserved Domains (1) summary
    pfam15826
    Location:2193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
  4. NM_001382552.1NP_001369481.1  bcl-2-binding component 3

    Status: VALIDATED

    Source sequence(s)
    AC156630
    Conserved Domains (1) summary
    pfam15826
    Location:2193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
  5. NM_001382553.1NP_001369482.1  bcl-2-binding component 3

    Status: VALIDATED

    Source sequence(s)
    AC156630
    Conserved Domains (1) summary
    pfam15826
    Location:2193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
  6. NM_133234.2NP_573497.1  bcl-2-binding component 3

    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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..16052259
    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
  2. XM_006539582.3XP_006539645.1  bcl-2-binding component 3 isoform X2

    See identical proteins and their annotated locations for XP_006539645.1

    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
  3. XM_006539579.5XP_006539642.1  bcl-2-binding component 3 isoform X2

    See identical proteins and their annotated locations for XP_006539642.1

    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
  4. XM_006539575.5XP_006539638.1  bcl-2-binding component 3 isoform X1

    Conserved Domains (1) summary
    pfam15826
    Location:18209
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
  5. XM_006539580.4XP_006539643.1  bcl-2-binding component 3 isoform X2

    See identical proteins and their annotated locations for XP_006539643.1

    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
  6. XM_006539583.5XP_006539646.1  bcl-2-binding component 3 isoform X3

    Conserved Domains (1) summary
    pfam15826
    Location:21122
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
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