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BFAR bifunctional apoptosis regulator [ Homo sapiens (human) ]

Gene ID: 51283, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 13.9), urinary bladder (RPKM 13.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (14632951..14669236)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (14670491..14706771)
105.20220307 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
  • 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. 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
  2. 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
  3. p75NTR signal transduction suppressed by BFAR and p75NTR interactions. Li H, et al. Sci China Life Sci, 2012 Apr. PMID 22566094
  4. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. Roth W, et al. Cell Death Differ, 2003 Oct. PMID 14502241
  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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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_2023_10

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

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