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Aliases for BFAR Gene

Aliases for BFAR Gene

  • Bifunctional Apoptosis Regulator 2 3
  • RING Finger Protein 47 3 4
  • RNF47 3 4
  • BAR 3 4
  • Bifunctional Apoptosis Inhibitor 3

External Ids for BFAR Gene

Previous GeneCards Identifiers for BFAR Gene

  • GC16P014675
  • GC16M017798
  • GC16P014693

Summaries for BFAR Gene

GeneCards Summary for BFAR Gene

BFAR (Bifunctional Apoptosis Regulator) is a Protein Coding gene. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for BFAR Gene

  • Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BFAR Gene

Genomics for BFAR Gene

Regulatory Elements for BFAR Gene

Genomic Location for BFAR Gene

Start:
14,632,811 bp from pter
End:
14,669,236 bp from pter
Size:
36,426 bases
Orientation:
Plus strand

Genomic View for BFAR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BFAR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BFAR Gene

Proteins for BFAR Gene

  • Protein details for BFAR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZS9-BFAR_HUMAN
    Recommended name:
    Bifunctional apoptosis regulator
    Protein Accession:
    Q9NZS9
    Secondary Accessions:
    • A8K4Z9
    • B4DUT0
    • D3DUG8

    Protein attributes for BFAR Gene

    Size:
    450 amino acids
    Molecular mass:
    52738 Da
    Quaternary structure:
    • Interacts with CASP8, BCL2 and BCL2L1 through SAM domain and also with HIP1, IFT57, ESRRBL1 and BCAP31.

    Alternative splice isoforms for BFAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BFAR Gene

Proteomics data for BFAR Gene at MOPED

Post-translational modifications for BFAR Gene

  • Ubiquitination at Lys82, Lys225, Lys247, Lys252, Lys261, Lys322, and Lys327
  • Glycosylation at Asn232
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BFAR Gene

Domains for BFAR Gene

Gene Families for BFAR Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers
  • SAMD :Sterile alpha motif (SAM) domain containing

Suggested Antigen Peptide Sequences for BFAR Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZS9

UniProtKB/Swiss-Prot:

BFAR_HUMAN :
  • Q9NZS9
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with BFAR: view

Function for BFAR Gene

Molecular function for BFAR Gene

GENATLAS Biochemistry: potential adhesion receptor,putatively involved in neural crest cells migration,close (10kb) to the ADU breakpoint in DiGeorge syndrome,(?same as LAN1,IDD)
UniProtKB/Swiss-Prot Function: Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.

Gene Ontology (GO) - Molecular Function for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005515 protein binding IPI 21068390
GO:0008270 zinc ion binding IEA --
GO:0030674 protein binding, bridging IDA 10716992
GO:0046872 metal ion binding --
genes like me logo Genes that share ontologies with BFAR: view

Phenotypes for BFAR Gene

genes like me logo Genes that share phenotypes with BFAR: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BFAR Gene

Localization for BFAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for BFAR Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BFAR Gene COMPARTMENTS Subcellular localization image for BFAR gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 3
cytoskeleton 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 21068390
GO:0005887 integral component of plasma membrane NAS 10716992
GO:0016020 membrane IDA 10716992
GO:0030176 integral component of endoplasmic reticulum membrane NAS 21068390
genes like me logo Genes that share ontologies with BFAR: view

Pathways for BFAR Gene

SuperPathways for BFAR Gene

No Data Available

Gene Ontology (GO) - Biological Process for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 21068390
GO:0006915 apoptotic process IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 21068390
GO:0043066 negative regulation of apoptotic process IDA 10716992
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA 21068390
genes like me logo Genes that share ontologies with BFAR: view

No data available for Pathways by source for BFAR Gene

Transcripts for BFAR Gene

Unigene Clusters for BFAR Gene

Bifunctional apoptosis regulator:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BFAR Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - - -
SP5: - -
SP6: - - - - -
SP7: - -
SP8: - - - - -
SP9: - - - - - - - -
SP10: -

Relevant External Links for BFAR Gene

GeneLoc Exon Structure for
BFAR
ECgene alternative splicing isoforms for
BFAR

Expression for BFAR Gene

mRNA expression in normal human tissues for BFAR Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BFAR Gene

SOURCE GeneReport for Unigene cluster for BFAR Gene Hs.435556

mRNA Expression by UniProt/SwissProt for BFAR Gene

Q9NZS9-BFAR_HUMAN
Tissue specificity: Expressed highly in brain, moderately in small intestine, weakly in testes and only faintly in liver and skeletal muscle. Not expressed in heart, kidney, lung and spleen.
genes like me logo Genes that share expressions with BFAR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BFAR Gene

Orthologs for BFAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for BFAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BFAR 35
  • 99.63 (n)
  • 99.33 (a)
BFAR 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BFAR 35
  • 88.89 (n)
  • 90.44 (a)
BFAR 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BFAR 35
  • 89.93 (n)
  • 92.89 (a)
BFAR 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bfar 35
  • 86.52 (n)
  • 90 (a)
Bfar 16
Bfar 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BFAR 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bfar 35
  • 86.59 (n)
  • 90.22 (a)
chicken
(Gallus gallus)
Aves BFAR 35
  • 75.82 (n)
  • 82.63 (a)
BFAR 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BFAR 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2931 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bfar 35
  • 72.88 (n)
  • 76.82 (a)
Species with no ortholog for BFAR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BFAR Gene

ENSEMBL:
Gene Tree for BFAR (if available)
TreeFam:
Gene Tree for BFAR (if available)

Paralogs for BFAR Gene

genes like me logo Genes that share paralogs with BFAR: view

No data available for Paralogs for BFAR Gene

Variants for BFAR Gene

Sequence variations from dbSNP and Humsavar for BFAR Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1057966 -- 14,669,197(+) aatta(C/T)ttgaa utr-variant-3-prime
rs1808452 -- 14,637,700(+) GGCGC(A/C/G)TGCTT intron-variant
rs1981887 -- 14,640,020(+) GTGGC(A/G)CACAC intron-variant
rs2014988 -- 14,649,225(+) CATGC(C/G)CCACT intron-variant
rs2081271 -- 14,644,111(-) ATCTC(A/G)GCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BFAR Gene

Variant ID Type Subtype PubMed ID
dgv810e1 CNV Complex 17122850
dgv811e1 CNV Complex 17122850
nsv833144 CNV Gain 17160897
nsv905356 CNV Gain 21882294
nsv1740 CNV Loss 18451855
essv16469 CNV CNV 17122850
dgv812e1 CNV Complex 17122850
nsv905357 CNV Gain 21882294

Relevant External Links for BFAR Gene

HapMap Linkage Disequilibrium report
BFAR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BFAR Gene

Disorders for BFAR Gene

Relevant External Links for BFAR

Genetic Association Database (GAD)
BFAR
Human Genome Epidemiology (HuGE) Navigator
BFAR
genes like me logo Genes that share disorders with BFAR: view

No data available for UniProtKB/Swiss-Prot for BFAR Gene

Publications for BFAR Gene

  1. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. (PMID: 14502241) Roth W. … Reed J.C. (Cell Death Differ. 2003) 3 4 23
  2. BAR: an apoptosis regulator at the intersection of caspases and Bcl-2 family proteins. (PMID: 10716992) Zhang H. … Reed J.C. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Over-expression of a modified bifunctional apoptosis regulator protects against cardiac injury and doxorubicin-induced cardiotoxicity in transgenic mice. (PMID: 18805781) Chua C.C. … Chua B.H. (Cardiovasc. Res. 2009) 3 23
  5. Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. (PMID: 20523265) Liu X. … Yang Z. (Retina (Philadelphia, Pa.) 2010) 3 48

Products for BFAR Gene

Sources for BFAR Gene

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