• Gene id: 84650

Gene Summary

• Gene Symbol: EBPL   Gene   UCSC   Ensembl
• Aliases: EBRP
• Gene name: EBP like
• Alternate names: emopamil-binding protein-like, emopamil binding protein like, emopamil binding related protein, delta8-delta7 sterol isomerase related protein, emopamil-binding-related protein,
• Gene location: 13q14.2 (49691486: 49660673)     Exons: 6     NC_000013.11
• OMIM: 312861

Protein Summary

• Protein general information: Q9BY08  
  • Name: Emopamil binding protein like (Emopamil binding related protein)
  • Length: 206  
  • Mass: 23204
  • Tissue specificity: Widely expressed with highest levels in liver, lung and kidney. {ECO
• Sequence:

  MGAEWELGAEAGGSLLLCAALLAAGCALGLRLGRGQGAADRGALIWLCYDALVHFALEGPFVYLSLVGNVANSDG
  LIASLWKEYGKADARWVYFDPTIVSVEILTVALDGSLALFLIYAIVKEKYYRHFLQITLCVCELYGCWMTFLPEW
  LTRSPNLNTSNWLYCWLYLFFFNGVWVLIPGLLLWQSWLELKKMHQKETSSVKKFQ

• Structural information:
  • Protein Domains: (39..18-)
    (/note="EXPERA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01087"-)
  • Interpro: IPR007905  IPR033118  
  • Prosite: PS51751
  • STRING: ENSP00000242827
• Other Databases: GeneCards:  EBPL  Malacards:  EBPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016125	sterol metabolic process	IEA	biological process
GO:0047750	cholestenol delta-isomerase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881