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BFAR bifunctional apoptosis regulator [ Homo sapiens (human) ]

Gene ID: 51283, updated on 15-Apr-2019

Summary

Official Symbol
BFARprovided by HGNC
Official Full Name
bifunctional apoptosis regulatorprovided by HGNC
Primary source
HGNC:HGNC:17613
See related
Ensembl:ENSG00000103429
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
Expression
Ubiquitous expression in placenta (RPKM 13.9), urinary bladder (RPKM 13.0) and 25 other tissues See more
Orthologs

Genomic context

See BFAR in Genome Data Viewer
Location:
16p13.12
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (14632811..14669236)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14726668..14763093)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene poly(A)-specific ribonuclease Neighboring gene uncharacterized LOC107984865 Neighboring gene RNA, 7SL, cytoplasmic 274, pseudogene Neighboring gene RNA, U7 small nuclear 125 pseudogene Neighboring gene phospholipase A2 group X Neighboring gene collagen alpha-3(IX) chain-like

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
caspase binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001330500.1NP_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
    Q9NZS9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    14632811..14669236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255350.2XP_005255407.1  bifunctional apoptosis regulator isoform X1

    See identical proteins and their annotated locations for XP_005255407.1

    UniProtKB/Swiss-Prot
    Q9NZS9
    Conserved Domains (2) summary
    cd09513
    Location:51121
    SAM_BAR; SAM domain of BAR subfamily
    smart00454
    Location:5194
    SAM; Sterile alpha motif

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187607.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    205667..242094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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