COPS3 (COP9 signalosome subunit 3)

Gene

• Entrez ID: 8533
• Gene name: COP9 signalosome subunit 3
• Gene symbol: COPS3
• Synonyms (NCBI Gene): CSN3, SGN3
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020767	hsa-miR-155-5p	Proteomics	18668040
MIRT026041	hsa-miR-196a-5p	Sequencing	20371350
MIRT051794	hsa-let-7c-5p	CLASH	23622248
MIRT050851	hsa-miR-17-5p	CLASH	23622248
MIRT050294	hsa-miR-25-3p	CLASH	23622248
MIRT043822	hsa-miR-328-3p	CLASH	23622248
MIRT043413	hsa-miR-331-3p	CLASH	23622248
MIRT043162	hsa-miR-324-5p	CLASH	23622248
MIRT041921	hsa-miR-484	CLASH	23622248
MIRT440908	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440908	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT904034	hsa-miR-1185	CLIP-seq
MIRT904035	hsa-miR-155	CLIP-seq
MIRT904036	hsa-miR-3200-5p	CLIP-seq
MIRT904037	hsa-miR-3605-5p	CLIP-seq
MIRT904038	hsa-miR-3679-5p	CLIP-seq
MIRT904039	hsa-miR-3927	CLIP-seq
MIRT904040	hsa-miR-4649-3p	CLIP-seq
MIRT904041	hsa-miR-548m	CLIP-seq
MIRT904042	hsa-miR-802	CLIP-seq
MIRT1968028	hsa-miR-1470	CLIP-seq
MIRT1968029	hsa-miR-4290	CLIP-seq
MIRT1968030	hsa-miR-4700-3p	CLIP-seq
MIRT1968031	hsa-miR-4762-3p	CLIP-seq
MIRT1968032	hsa-miR-4766-5p	CLIP-seq
MIRT2203918	hsa-miR-4438	CLIP-seq
MIRT2203919	hsa-miR-642b	CLIP-seq
MIRT2507120	hsa-miR-133a	CLIP-seq
MIRT2507121	hsa-miR-133b	CLIP-seq
MIRT1968028	hsa-miR-1470	CLIP-seq
MIRT2507122	hsa-miR-193a-3p	CLIP-seq
MIRT2507123	hsa-miR-193b	CLIP-seq
MIRT2507124	hsa-miR-2392	CLIP-seq
MIRT2507125	hsa-miR-3134	CLIP-seq
MIRT2507126	hsa-miR-3183	CLIP-seq
MIRT2507127	hsa-miR-3664-3p	CLIP-seq
MIRT2507128	hsa-miR-3909	CLIP-seq
MIRT2507129	hsa-miR-3926	CLIP-seq
MIRT1968029	hsa-miR-4290	CLIP-seq
MIRT2507130	hsa-miR-4426	CLIP-seq
MIRT2203918	hsa-miR-4438	CLIP-seq
MIRT2507131	hsa-miR-4647	CLIP-seq
MIRT2507132	hsa-miR-4662b	CLIP-seq
MIRT2507133	hsa-miR-4723-3p	CLIP-seq
MIRT2507134	hsa-miR-4753-3p	CLIP-seq
MIRT2507135	hsa-miR-4764-5p	CLIP-seq
MIRT2507136	hsa-miR-4768-5p	CLIP-seq
MIRT2507137	hsa-miR-548s	CLIP-seq
MIRT2203919	hsa-miR-642b	CLIP-seq
MIRT2507138	hsa-miR-668	CLIP-seq
MIRT2507120	hsa-miR-133a	CLIP-seq
MIRT2507121	hsa-miR-133b	CLIP-seq
MIRT1968028	hsa-miR-1470	CLIP-seq
MIRT2507122	hsa-miR-193a-3p	CLIP-seq
MIRT2507123	hsa-miR-193b	CLIP-seq
MIRT2507124	hsa-miR-2392	CLIP-seq
MIRT2507125	hsa-miR-3134	CLIP-seq
MIRT2507126	hsa-miR-3183	CLIP-seq
MIRT2507127	hsa-miR-3664-3p	CLIP-seq
MIRT2507128	hsa-miR-3909	CLIP-seq
MIRT2507129	hsa-miR-3926	CLIP-seq
MIRT1968029	hsa-miR-4290	CLIP-seq
MIRT2507130	hsa-miR-4426	CLIP-seq
MIRT2203918	hsa-miR-4438	CLIP-seq
MIRT2507131	hsa-miR-4647	CLIP-seq
MIRT2507132	hsa-miR-4662b	CLIP-seq
MIRT2507133	hsa-miR-4723-3p	CLIP-seq
MIRT2507134	hsa-miR-4753-3p	CLIP-seq
MIRT2507135	hsa-miR-4764-5p	CLIP-seq
MIRT2507136	hsa-miR-4768-5p	CLIP-seq
MIRT2507137	hsa-miR-548s	CLIP-seq
MIRT2203919	hsa-miR-642b	CLIP-seq
MIRT2507138	hsa-miR-668	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000338	Process	Protein deneddylation	IDA	19141280
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	10777491, 11418127, 12620389, 15861129, 18850735, 19615732, 20399188, 21145461, 24421388, 25043011, 25959826, 26030138, 26456823, 26496610, 27173435, 28514442, 30631038, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	24421388
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	24421388
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	TAS	9535219
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0007165	Process	Signal transduction	TAS	9535219
GO:0008180	Component	COP9 signalosome	IBA
GO:0008180	Component	COP9 signalosome	IDA	18850735
GO:0008180	Component	COP9 signalosome	IEA
GO:0008180	Component	COP9 signalosome	IPI	25043011
GO:0008180	Component	COP9 signalosome	ISS
GO:0009416	Process	Response to light stimulus	TAS	9535219
GO:0043516	Process	Regulation of DNA damage response, signal transduction by p53 class mediator	IMP	15861129
GO:0045116	Process	Protein neddylation	NAS	24421388
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15861129
GO:2000434	Process	Regulation of protein neddylation	NAS	24421388

Other IDs

• MIM: 604665
• HGNC: 2239
• e!Ensembl: ENSG00000141030

Protein

• UniProt ID: Q9UNS2
• Protein name: COP9 signalosome complex subunit 3 (SGN3) (Signalosome subunit 3) (JAB1-containing signalosome subunit 3)
• Protein function: Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the culli
• PDB: 4D10, 4D18, 4WSN, 6R6H, 6R7F, 6R7H, 6R7I, 6R7N, 8H38, 8H3A, 8H3F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01399	PCI	258 → 362	PCI domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at high level in heart and skeletal muscle. {ECO:0000269|PubMed:10191102}.
• Sequence:

  MASALEQFVNSVRQLSAQGQMTQLCELINKSGELLAKNLSHLDTVLGALDVQEHSLGVLA
  VLFVKFSMPSVPDFETLFSQVQLFISTCNGEHIRYATDTFAGLCHQLTNALVERKQPLRG
  IGILKQAIDKMQMNTNQLTSIHADLCQLCLLAKCFKPALPYLDVDMMDICKENGAYDAKH
  FLCYYYYGGMIYTGLKNFERALYFYEQAITTPAMAVSHIMLESYKKYILVSLILLGKVQQ
  LPKYTSQIVGRFIKPLSNAYHELAQVYSTNNPSELRNLVNKHSETFTRDNNMGLVKQCLS
  SLYKKNIQRLTKTFLTLSLQDMASRVQLSGPQEAEKYVLHMIEDGEIFASINQKDGMVSF
  HDNPEKYNNPAMLHNIDQEMLKCIELDERLKAMDQEITVNPQFVQKSMGSQEDDSGNKPS
  SYS

• Sequence length: 423

Pathways

Reactome:

DNA Damage Recognition in GG-NER
Formation of TC-NER Pre-Incision Complex
Cargo recognition for clathrin-mediated endocytosis
Neddylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	3489755		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31408975	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22631635		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20043229		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	22536414	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	23695280	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	22237956		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29477618		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29305679	Associate	★☆☆☆☆ Found in Text Mining only
Fish-Eye Disease	Fish-Eye Disease	BEFREE	17044772		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22237956, 31509289		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	22237956		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22631635	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	29477618		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22631635		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31509289		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29477618		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35045690	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17785846		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17044772, 17366602, 22237956		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12917637, 15193436, 15325100, 17366602, 21436869, 22237956, 22292074, 22631635, 29970115, 31509289		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17366602, 21436869, 22292074, 22631635	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31509289		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36430833	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	29477618		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	36232302	Associate	★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	10588842		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33530209, 37174723	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	22536414	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	29305679	Associate	★☆☆☆☆ Found in Text Mining only