• Gene id: 51283

Gene Summary

• Gene Symbol: BFAR   Gene   UCSC   Ensembl
• Aliases: BAR, RNF47
• Gene name: bifunctional apoptosis regulator
• Alternate names: bifunctional apoptosis regulator, RING finger protein 47, bifunctional apoptosis inhibitor,
• Gene location: 16p13.12 (14632830: 14669235)     Exons: 8     NC_000016.10
• OMIM: 603155

Protein Summary

• Protein general information: Q9NZS9  
  • Name: Bifunctional apoptosis regulator (RING finger protein 47)
  • Length: 450  
  • Mass: 52738
  • 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. {ECO
• Sequence:

  MEEPQKSYVNTMDLERDEPLKSTGPQISVSEFSCHCCYDILVNPTTLNCGHSFCRHCLALWWASSKKTECPECRE
  KWEGFPKVSILLRDAIEKLFPDAIRLRFEDIQQNNDIVQSLAAFQKYGNDQIPLAPNTGRANQQMGGGFFSGVLT
  ALTGVAVVLLVYHWSSRESEHDLLVHKAVAKWTAEEVVLWLEQLGPWASLYRERFLSERVNGRLLLTLTEEEFSK
  TPYTIENSSHRRAILMELERVKALGVKPPQNLWEYKAVNPGRSLFLLYALKSSPRLSLLYLYLFDYTDTFLPFIH
  TICPLQEDSSGEDIVTKLLDLKEPTWKQWREFLVKYSFLPYQLIAEFAWDWLEVHYWTSRFLIINAMLLSVLELF
  SFWRIWSRSELKTVPQRMWSHFWKVSTQGLFVAMFWPLIPQFVCNCLFYWALYFNPIINIDLVVKELRRLETQVL

• Structural information:
  • Protein Domains: (182..24-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR001660  IPR013761  IPR001841  IPR013083  IPR017907  
  • Prosite: PS50105 PS00518 PS50089
  • STRING: ENSP00000261658
• Other Databases: GeneCards:  BFAR  Malacards:  BFAR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0089720	caspase binding	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0030674	protein-macromolecule adaptor activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0070534	protein K63-linked ubiquitination	IDA	biological process
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1903895	negative regulation of IRE1-mediated unfolded protein response	IMP	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq