• Gene id: 55070

Gene Summary

• Gene Symbol: DET1   Gene   UCSC   Ensembl
• Gene name: DET1 partner of COP1 E3 ubiquitin ligase
• Alternate names: DET1 homolog, DET1, COP1 ubiquitin ligase partner, de-etiolated homolog 1,
• Gene location: 15q26.1 (88546702: 88501918)     Exons: 25     NC_000015.10
• OMIM: 608727

Protein Summary

• Protein general information: Q7L5Y6  
  • Name: DET1 homolog (De etiolated 1 homolog)
  • Length: 550  
  • Mass: 63848
  • Tissue specificity: Highly expressed in the ovary, some lymphoid organs and resting leukocytes. {ECO
• Sequence:

  MDHHVSTIKPRRIQNQNVIHRLERRRISSGKAGTHWHQVRVFHQNVFPNFTVVNVEKPPCFLRKFSPDGRYFIAF
  SSDQTSLEIYEYQGCQAAEDLLQGYEGEILSNGNDQRSVNIRGRLFERFFVLLHITNVAANGEHLNRECSLFTDD
  CRCVIVGSAAYLPDEPHPPFFEVYRNSESVTPNPRSPLEDYSLHIIDLHTGRLCDTRTFKCDKVVLSHNQGLYLY
  KNILAILSVQQQTIHVFQVTPEGTFIDVRTIGRFCYEDDLLTVSAVFPEVQRDSQTGMANPFRDPFINSLKHRLL
  VYLWRRAEQDGSAMAKRRFFQYFDQLRQLRMWKMQLLDENHLFIKYTSEDVVTLRVTDPSQASFFVVYNMVTTEV
  IAVFENTSDELLELFENFCDLFRNATLHSEVQFPCSASSNNFARQIQRRFKDTIINAKYGGHTEAVRRLLGQLPI
  SAQSYSGSPYLDLSLFSYDDKWVSVMERPKTCGDHPIRFYARDSGLLKFEIQAGLLGRPINHTVRRLVAFTFHPF
  EPFAISVQRTNAEYVVNFHMRHCCT

• Structural information:
  • Interpro: IPR019138  
  • STRING: ENSP00000456340
• Other Databases: GeneCards:  DET1  Malacards:  DET1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IPI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IMP	molecular function
GO:1990756	ubiquitin ligase-substrate adaptor activity	IPI	molecular function
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IPI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq