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    Bfar bifunctional apoptosis regulator [ Mus musculus (house mouse) ]

    Gene ID: 67118, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Bfarprovided by MGI
    Official Full Name
    bifunctional apoptosis regulatorprovided by MGI
    Primary source
    MGI:MGI:1914368
    See related
    Ensembl:ENSMUSG00000022684 AllianceGenome:MGI:1914368
    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
    Bar; Rnf47; 3010001A07Rik; 3110001I22Rik
    Summary
    Predicted to enable caspase binding activity; protein-macromolecule adaptor activity; and ubiquitin protein ligase activity. Predicted to be involved in negative regulation of IRE1-mediated unfolded protein response; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Predicted to act upstream of or within negative regulation of apoptotic process. Predicted to be located in endoplasmic reticulum and membrane. Is expressed in central nervous system; heart valve; reproductive system; and urinary system. Orthologous to human BFAR (bifunctional apoptosis regulator). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 14.9), subcutaneous fat pad adult (RPKM 12.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bfar in Genome Data Viewer
    Location:
    16 A1; 16 9.45 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (13489722..13521476)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (13671858..13703612)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40145 Neighboring gene predicted gene, 25276 Neighboring gene poly(A)-specific ribonuclease (deadenylation nuclease) Neighboring gene non-histone chromosomal protein HMG-14 pseudogene Neighboring gene periphilin 1, pseudogene 1 Neighboring gene phospholipase A2, group X Neighboring gene phospholipase A2, group X, opposite strand Neighboring gene STARR-seq mESC enhancer starr_40155 Neighboring gene RIKEN cDNA A930007A09 gene Neighboring gene STARR-seq mESC enhancer starr_40157

    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. The ubiquitin E3 ligase BFAR promotes degradation of PNPLA3. Das A, et al. Proc Natl Acad Sci U S A, 2024 Feb 6. PMID 38294943, Free PMC Article
    2. BFAR coordinates TGFβ signaling to modulate Th9-mediated cancer immunotherapy. Pei S, et al. J Exp Med, 2021 Jul 5. PMID 33914044, Free PMC Article
    3. The periphilin 1-like BFAR isoform 3 is highly expressed in transcriptionally silent oocytes and involved in RNA metabolism. Mrowiec K, et al. Biochim Biophys Acta Mol Cell Res, 2021 Sep. PMID 34175335
    4. Endothelial Cyp26b1 restrains murine heart valve growth during development. Ahuja N, et al. Dev Biol, 2022 Jun. PMID 35364055
    5. Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Carninci P, et al. Genome Res, 2003 Jun. PMID 12819125, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ubiquitin E3 ligase BFAR promotes degradation of PNPLA3.
      Title: The ubiquitin E3 ligase BFAR promotes degradation of PNPLA3.
    2. The periphilin 1-like BFAR isoform 3 is highly expressed in transcriptionally silent oocytes and involved in RNA metabolism.
      Title: The periphilin 1-like BFAR isoform 3 is highly expressed in transcriptionally silent oocytes and involved in RNA metabolism.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC48147

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables caspase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of IRE1-mediated unfolded protein response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein K48-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein K63-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    bifunctional apoptosis regulator

    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_001177552.1 → NP_001171023.1  bifunctional apoptosis regulator isoform 2

      See identical proteins and their annotated locations for NP_001171023.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC154607, AI255749, AK028592
      Consensus CDS
      CCDS49769.1
      UniProtKB/Swiss-Prot
      Q8R079
      Related
      ENSMUSP00000063371.8, ENSMUST00000069281.8
      Conserved Domains (2) summary
      cd00162
      Location:34 → 77
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl15755
      Location:98 → 124
      SAM_superfamily; SAM (Sterile alpha motif )

    2. NM_025976.5 → NP_080252.1  bifunctional apoptosis regulator isoform 1

      See identical proteins and their annotated locations for NP_080252.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC154607, AI255749, AK013874
      Consensus CDS
      CCDS27966.1
      UniProtKB/Swiss-Prot
      Q8C1A7, Q8R079, Q9CXY3
      UniProtKB/TrEMBL
      A0A0R4J040
      Related
      ENSMUSP00000023365.7, ENSMUST00000023365.13
      Conserved Domains (3) summary
      cd09513
      Location:179 → 249
      SAM_BAR; SAM domain of BAR subfamily
      smart00454
      Location:179 → 248
      SAM; Sterile alpha motif
      cd00162
      Location:34 → 77
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      13489722..13521476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_025653.3: Suppressed sequence

      Description
      NM_025653.3: This RefSeq was removed because it is now thought that this transcript is produced by a pseudogene.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R079.1 GenPept UniProtKB/Swiss-Prot:Q8R079

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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