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    BFAR bifunctional apoptosis regulator [ Homo sapiens (human) ]

    Gene ID: 51283, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BFARprovided by HGNC
    Official Full Name
    bifunctional apoptosis regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:17613
    See related
    Ensembl:ENSG00000103429 MIM:619516; AllianceGenome:HGNC:17613
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BAR; RNF47
    Summary
    Enables caspase binding activity; protein-macromolecule adaptor activity; and ubiquitin protein ligase activity. Involved in negative regulation of IRE1-mediated unfolded protein response; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Acts upstream of or within negative regulation of apoptotic process. Located in endoplasmic reticulum and membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 13.9), urinary bladder (RPKM 13.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BFAR in Genome Data Viewer
    Location:
    16p13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (14632951..14669236)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (14670491..14706771)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14726808..14763093)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene poly(A)-specific ribonuclease Neighboring gene uncharacterized LOC107984865 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:14626034-14626783 Neighboring gene RNA, 7SL, cytoplasmic 274, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:14723085-14723608 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:14723609-14724130 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:14724131-14724653 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:14726253-14726820 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:14726821-14727390 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:14730046-14730899 Neighboring gene RNA, U7 small nuclear 125 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:14781374-14781874 Neighboring gene phospholipase A2 group X Neighboring gene group 10 secretory phospholipase A2 Neighboring gene nuclear pore complex interacting protein family member A3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Over-expression of a modified bifunctional apoptosis regulator protects against cardiac injury and doxorubicin-induced cardiotoxicity in transgenic mice. Chua CC, et al. Cardiovasc Res, 2009 Jan 1. PMID 18805781, Free PMC Article
    2. p75NTR signal transduction suppressed by BFAR and p75NTR interactions. Li H, et al. Sci China Life Sci, 2012 Apr. PMID 22566094
    3. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. Roth W, et al. Cell Death Differ, 2003 Oct. PMID 14502241
    4. 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
    5. Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. Liu X, et al. Retina, 2010 Sep. PMID 20523265

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. BFAR coordinates TGFbeta signaling to modulate Th9-mediated cancer immunotherapy.
      Title: BFAR coordinates TGFβ signaling to modulate Th9-mediated cancer immunotherapy.
    3. Data show that p75NTR and BFAR co-localized within the cytoplasm.
      Title: p75NTR signal transduction suppressed by BFAR and p75NTR interactions.
    4. post-translational regulation of the BI-1 protein by E3 ligase BAR contributes to the dynamic control of IRE1 signaling during endoplasmic reticulum stress
      Title: Bifunctional apoptosis regulator (BAR), an endoplasmic reticulum (ER)-associated E3 ubiquitin ligase, modulates BI-1 protein stability and function in ER Stress.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.
    6. Over-expression of BFAR Delta RING renders the heart more resistant to I/R injury and DOX-induced cardiotoxicity, and this protection correlates with reduced cardiomyocyte apoptosis.
      Title: Over-expression of a modified bifunctional apoptosis regulator protects against cardiac injury and doxorubicin-induced cardiotoxicity in transgenic mice.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables caspase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K63-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bifunctional apoptosis regulator
    Names
    RING finger protein 47
    bifunctional apoptosis inhibitor

    NCBI Reference Sequences (RefSeq)

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    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_001330500.2 → NP_001317429.1  bifunctional apoptosis regulator isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1
      Source sequence(s)
      AC009167, BU621058
      Consensus CDS
      CCDS81947.1
      UniProtKB/TrEMBL
      H3BMP2
      Related
      ENSP00000454476.1, ENST00000563971.5
      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_016561.3 → NP_057645.1  bifunctional apoptosis regulator isoform 1

      See identical proteins and their annotated locations for NP_057645.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF173003, BC003054, BI912683, BU621058
      Consensus CDS
      CCDS10554.1
      UniProtKB/Swiss-Prot
      A8K4Z9, B4DUT0, D3DUG8, Q9NZS9
      UniProtKB/TrEMBL
      B2R9R6
      Related
      ENSP00000261658.2, ENST00000261658.7
      Conserved Domains (2) summary
      cd09513
      Location:179 → 249
      SAM_BAR; SAM domain of BAR subfamily
      cd16497
      Location:32 → 77
      RING-HC_BAR; RING finger, HC subclass, found in bifunctional apoptosis regulator (BAR)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      14632951..14669236
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255350.3 → XP_005255407.1  bifunctional apoptosis regulator isoform X1

      See identical proteins and their annotated locations for XP_005255407.1

      UniProtKB/Swiss-Prot
      Q9NZS9
      Conserved Domains (1) summary
      cd09513
      Location:51 → 121
      SAM_BAR; SAM domain of BAR subfamily

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      205807..242094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329102.1 → XP_054185077.1  bifunctional apoptosis regulator isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      14670491..14706771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380437.1 → XP_054236412.1  bifunctional apoptosis regulator isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZS9.1 GenPept UniProtKB/Swiss-Prot:Q9NZS9

    Gene LinkOut

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

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