• Gene id: 64326

Gene Summary

• Gene Symbol: COP1   Gene   UCSC   Ensembl
• Aliases: CFAP78, FAP78, RFWD2, RNF200
• Gene name: COP1 E3 ubiquitin ligase
• Alternate names: E3 ubiquitin-protein ligase COP1, E3 ubiquitin-protein ligase RFWD2, RING finger protein 200, RING-type E3 ubiquitin transferase RFWD2, constitutive photomorphogenesis protein 1 homolog, constitutive photomorphogenic protein 1, putative ubiquitin ligase COP1, ri,
• Gene location: 1q25.1-q25.2 (176209086: 175944825)     Exons: 23     NC_000001.11
• OMIM: 608067

Protein Summary

• Protein general information: Q8NHY2  
  • Name: E3 ubiquitin protein ligase COP1 (EC 2.3.2.27) (Constitutive photomorphogenesis protein 1 homolog) (hCOP1) (RING finger and WD repeat domain protein 2) (RING finger protein 200) (RING type E3 ubiquitin transferase RFWD2)
  • Length: 731  
  • Mass: 80474
  • Tissue specificity: Ubiquitously expressed at low level. Expressed at higher level in testis, placenta, skeletal muscle and heart. {ECO
• Sequence:

  MSGSRQAGSGSAGTSPGSSAASSVTSASSSLSSSPSPPSVAVSAAALVSGGVAQAAGSGGLGGPVRPVLVAPAVS
  GSGGGAVSTGLSRHSCAARPSAGVGGSSSSLGSGSRKRPLLAPLCNGLINSYEDKSNDFVCPICFDMIEEAYMTK
  CGHSFCYKCIHQSLEDNNRCPKCNYVVDNIDHLYPNFLVNELILKQKQRFEEKRFKLDHSVSSTNGHRWQIFQDW
  LGTDQDNLDLANVNLMLELLVQKKKQLEAESHAAQLQILMEFLKVARRNKREQLEQIQKELSVLEEDIKRVEEMS
  GLYSPVSEDSTVPQFEAPSPSHSSIIDSTEYSQPPGFSGSSQTKKQPWYNSTLASRRKRLTAHFEDLEQCYFSTR
  MSRISDDSRTASQLDEFQECLSKFTRYNSVRPLATLSYASDLYNGSSIVSSIEFDRDCDYFAIAGVTKKIKVYEY
  DTVIQDAVDIHYPENEMTCNSKISCISWSSYHKNLLASSDYEGTVILWDGFTGQRSKVYQEHEKRCWSVDFNLMD
  PKLLASGSDDAKVKLWSTNLDNSVASIEAKANVCCVKFSPSSRYHLAFGCADHCVHYYDLRNTKQPIMVFKGHRK
  AVSYAKFVSGEEIVSASTDSQLKLWNVGKPYCLRSFKGHINEKNFVGLASNGDYIACGSENNSLYLYYKGLSKTL
  LTFKFDTVKSVLDKDRKEDDTNEFVSAVCWRALPDGESNVLIAANSQGTIKVLELV

• Structural information:
  • Interpro: IPR042755  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  IPR001841  IPR013083  IPR017907  
  • Prosite: PS00678 PS50082 PS50294 PS00518 PS50089
  • PDB: 5HQG 5IGQ
  • PDBsum: 5HQG 5IGQ
  • DIP: 36661
  • STRING: ENSP00000356641
• Other Databases: GeneCards:  COP1  Malacards:  COP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis
hsa04115	p53 signaling pathway

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