• Gene id: 8533

Gene Summary

• Gene Symbol: COPS3   Gene   UCSC   Ensembl
• Aliases: CSN3, SGN3
• Gene name: COP9 signalosome subunit 3
• Alternate names: COP9 signalosome complex subunit 3, COP9 complex subunit 3, COP9 constitutive photomorphogenic homolog subunit 3, JAB1-containing signalosome subunit 3, signalosome subunit 3,
• Gene location: 17p11.2 (6588638: 6654981)     Exons: 5     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is locat
• OMIM: 604665

Protein Summary

• Protein general information: Q9UNS2  
  • Name: COP9 signalosome complex subunit 3 (SGN3) (Signalosome subunit 3) (JAB1 containing signalosome subunit 3)
  • Length: 423  
  • Mass: 47873
  • Tissue specificity: Widely expressed. Expressed at high level in heart and skeletal muscle. {ECO
• Sequence:

  MASALEQFVNSVRQLSAQGQMTQLCELINKSGELLAKNLSHLDTVLGALDVQEHSLGVLAVLFVKFSMPSVPDFE
  TLFSQVQLFISTCNGEHIRYATDTFAGLCHQLTNALVERKQPLRGIGILKQAIDKMQMNTNQLTSIHADLCQLCL
  LAKCFKPALPYLDVDMMDICKENGAYDAKHFLCYYYYGGMIYTGLKNFERALYFYEQAITTPAMAVSHIMLESYK
  KYILVSLILLGKVQQLPKYTSQIVGRFIKPLSNAYHELAQVYSTNNPSELRNLVNKHSETFTRDNNMGLVKQCLS
  SLYKKNIQRLTKTFLTLSLQDMASRVQLSGPQEAEKYVLHMIEDGEIFASINQKDGMVSFHDNPEKYNNPAMLHN
  IDQEMLKCIELDERLKAMDQEITVNPQFVQKSMGSQEDDSGNKPSSYS

• Structural information:
  • Protein Domains: (197..36-)
    (/note="PCI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01185"-)
  • Interpro: IPR037753  IPR000717  IPR036388  IPR036390  
  • Prosite: PS50250
  • PDB: 4D10 4D18 4WSN 6R6H 6R7F 6R7H 6R7I 6R7N
  • PDBsum: 4D10 4D18 4WSN 6R6H 6R7F 6R7H 6R7I 6R7N
  • DIP: 32478
  • STRING: ENSP00000268717
• Other Databases: GeneCards:  COPS3  Malacards:  COPS3

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray