Human Gene BFAR (uc002dco.3) Description and Page Index
  Description: Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:14,726,668-14,763,093 Size: 36,426 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr16:14,738,204-14,761,684 Size: 23,481 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:14,726,668-14,763,093)mRNA (may differ from genome)Protein (450 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: BFAR_HUMAN
DESCRIPTION: RecName: Full=Bifunctional apoptosis regulator; AltName: Full=RING finger protein 47;
FUNCTION: Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.
SUBUNIT: Interacts with CASP8, BCL2 and BCL2L1 through SAM domain and also with HIP1, IFT57, ESRRBL1 and BCAP31.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
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.
SIMILARITY: Contains 1 RING-type zinc finger.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BFAR
CDC HuGE Published Literature: BFAR

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.13 RPKM in Cells - Transformed fibroblasts
Total median expression: 481.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -101.14281-0.360 Picture PostScript Text
3' UTR -456.321409-0.324 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF00536 - SAM domain (Sterile alpha motif)
PF07647 - SAM domain (Sterile alpha motif)
PF13445 - RING-type zinc-finger
PF13923 - Zinc finger, C3HC4 type (RING finger)
PF15227 - zinc finger of C3HC4-type, RING

SCOP Domains:
47769 - SAM/Pointed domain
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q9NZS9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030674 protein binding, bridging
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity
GO:0089720 caspase binding

Biological Process:
GO:0000209 protein polyubiquitination
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006915 apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0051865 protein autoubiquitination
GO:0070534 protein K63-linked ubiquitination
GO:0070936 protein K48-linked ubiquitination
GO:1903895 negative regulation of IRE1-mediated unfolded protein response

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  KJ893871 - Synthetic construct Homo sapiens clone ccsbBroadEn_03265 BFAR gene, encodes complete protein.
AF173003 - Homo sapiens apoptosis regulator (BAR) mRNA, complete cds.
JD418472 - Sequence 399496 from Patent EP1572962.
BC003054 - Homo sapiens bifunctional apoptosis regulator, mRNA (cDNA clone MGC:837 IMAGE:3537783), complete cds.
AK297067 - Homo sapiens cDNA FLJ56680 complete cds, highly similar to Bifunctional apoptosis regulator.
AK291114 - Homo sapiens cDNA FLJ78092 complete cds, highly similar to Homo sapiens bifunctional apoptosis regulator, mRNA.
AK313890 - Homo sapiens cDNA, FLJ94525, highly similar to Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.
AK300778 - Homo sapiens cDNA FLJ58979 complete cds, highly similar to Bifunctional apoptosis regulator.
AB590367 - Synthetic construct DNA, clone: pFN21AE1544, Homo sapiens BFAR gene for bifunctional apoptosis regulator, without stop codon, in Flexi system.
DQ890648 - Synthetic construct clone IMAGE:100003278; FLH164767.01X; RZPDo839B09158D bifunctional apoptosis regulator (BFAR) gene, encodes complete protein.
DQ893828 - Synthetic construct Homo sapiens clone IMAGE:100008288; FLH164763.01L; RZPDo839B09157D bifunctional apoptosis regulator (BFAR) gene, encodes complete protein.
JD501951 - Sequence 482975 from Patent EP1572962.
JD479380 - Sequence 460404 from Patent EP1572962.
JD334455 - Sequence 315479 from Patent EP1572962.
JD095489 - Sequence 76513 from Patent EP1572962.
JD131919 - Sequence 112943 from Patent EP1572962.
JD346297 - Sequence 327321 from Patent EP1572962.
JD557717 - Sequence 538741 from Patent EP1572962.
JD530943 - Sequence 511967 from Patent EP1572962.
JD064714 - Sequence 45738 from Patent EP1572962.
JD176362 - Sequence 157386 from Patent EP1572962.
JD221661 - Sequence 202685 from Patent EP1572962.
JD131474 - Sequence 112498 from Patent EP1572962.
JD413136 - Sequence 394160 from Patent EP1572962.
JD223931 - Sequence 204955 from Patent EP1572962.
JD557656 - Sequence 538680 from Patent EP1572962.
JD530296 - Sequence 511320 from Patent EP1572962.
JD114298 - Sequence 95322 from Patent EP1572962.
JD232940 - Sequence 213964 from Patent EP1572962.
JD281674 - Sequence 262698 from Patent EP1572962.
JD098983 - Sequence 80007 from Patent EP1572962.
JD351653 - Sequence 332677 from Patent EP1572962.
JD133641 - Sequence 114665 from Patent EP1572962.
JD154823 - Sequence 135847 from Patent EP1572962.
JD321081 - Sequence 302105 from Patent EP1572962.
JD340245 - Sequence 321269 from Patent EP1572962.
JD204850 - Sequence 185874 from Patent EP1572962.
JD368464 - Sequence 349488 from Patent EP1572962.
JD287879 - Sequence 268903 from Patent EP1572962.
JD517946 - Sequence 498970 from Patent EP1572962.
JD219995 - Sequence 201019 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4Z9, BAR, BFAR_HUMAN, D3DUG8, NM_016561, NP_057645, Q9NZS9, RNF47
UCSC ID: uc002dco.3
RefSeq Accession: NM_016561
Protein: Q9NZS9 (aka BFAR_HUMAN)
CCDS: CCDS10554.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016561.2
exon count: 8CDS single in 3' UTR: no RNA size: 3060
ORF size: 1353CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2748.00frame shift in genome: no % Coverage: 99.44
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.