BFAR bifunctional apoptosis regulator [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
BFAR coordinates TGFbeta signaling to modulate Th9-mediated cancer immunotherapy.
Title: BFAR coordinates TGFβ signaling to modulate Th9-mediated cancer immunotherapy.
Data show that p75NTR and BFAR co-localized within the cytoplasm.
Title: p75NTR signal transduction suppressed by BFAR and p75NTR interactions.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48705 (e-PCR)
- UniSTS:32312

STS-M78938 (e-PCR)
- UniSTS:56485

SHGC-61074 (e-PCR)
- UniSTS:27342

D16S2565E (e-PCR)
- UniSTS:42708

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)

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 )
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)