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    BFAR bifunctional apoptosis regulator [ Homo sapiens (human) ]

    Gene ID: 51283, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 13.9), urinary bladder (RPKM 13.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    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_001330500.2NP_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:3477
      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:98124
      SAM_superfamily; SAM (Sterile alpha motif )
    2. NM_016561.3NP_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:179249
      SAM_BAR; SAM domain of BAR subfamily
      cd16497
      Location:3277
      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_005255350.3XP_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:51121
      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_054329102.1XP_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_054380437.1XP_054236412.1  bifunctional apoptosis regulator isoform X1