COP1 (COP1 E3 ubiquitin ligase)

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Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64326
• Gene name: COP1 E3 ubiquitin ligase
• Gene symbol: COP1
• Synonyms (NCBI Gene): CFAP78, FAP78, RFWD2, RNF200
• Chromosome: 1
• Chromosome location: 1q25.1-q25.2

Transcription factors

Transcription factor	Regulation	Reference
RFWD2	Repression	20062082

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	14739464, 19805145, 20843328, 21572435, 21625211, 25117710, 26496610, 33961781, 35140242
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010212	Process	Response to ionizing radiation	IDA	19805145
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IDA	14739464
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	19805145
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	14739464
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	19805145

Other IDs

• MIM: 608067
• HGNC: 17440
• e!Ensembl: ENSG00000143207

Protein

• UniProt ID: Q8NHY2
• Protein 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)
• Protein function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transf
• PDB: 5HQG , 5IGQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	503 → 542	WD domain, G-beta repeat	Repeat
  PF00400	WD40	630 → 667	WD domain, G-beta repeat	Repeat
  PF00400	WD40	461 → 499	WD domain, G-beta repeat	Repeat
  PF00400	WD40	589 → 626	WD domain, G-beta repeat	Repeat
  PF00400	WD40	547 → 584	WD domain, G-beta repeat	Repeat
  PF13923	zf-C3HC4_2	135 → 173		Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed at low level. Expressed at higher level in testis, placenta, skeletal muscle and heart. {ECO:0000269|PubMed:12615916, ECO:0000269|PubMed:15103385}.
• Sequence:

  MSGSRQAGSGSAGTSPGSSAASSVTSASSSLSSSPSPPSVAVSAAALVSGGVAQAAGSGG
  LGGPVRPVLVAPAVSGSGGGAVSTGLSRHSCAARPSAGVGGSSSSLGSGSRKRPLLAPLC
  NGLINSYEDKSNDFVCPICFDMIEEAYMTKCGHSFCYKCIHQSLEDNNRCPKCNYVVDNI
  DHLYPNFLVNELILKQKQRFEEKRFKLDHSVSSTNGHRWQIFQDWLGTDQDNLDLANVNL
  MLELLVQKKKQLEAESHAAQLQILMEFLKVARRNKREQLEQIQKELSVLEEDIKRVEEMS
  GLYSPVSEDSTVPQFEAPSPSHSSIIDSTEYSQPPGFSGSSQTKKQPWYNSTLASRRKRL
  TAHFEDLEQCYFSTRMSRISDDSRTASQLDEFQECLSKFTRYNSVRPLATLSYASDLYNG
  SSIVSSIEFDRDCDYFAIAGVTKKIKVYEYDTVIQDAVDIHYPENEMTCNSKISCISWSS
  YHKNLLASSDYEGTVILWDGFTGQRSKVYQEHEKRCWSVDFNLMDPKLLASGSDDAKVKL
  WSTNLDNSVASIEAKANVCCVKFSPSSRYHLAFGCADHCVHYYDLRNTKQPIMVFKGHRK
  AVSYAKFVSGEEIVSASTDSQLKLWNVGKPYCLRSFKGHINEKNFVGLASNGDYIACGSE
  NNSLYLYYKGLSKTLLTFKFDTVKSVLDKDRKEDDTNEFVSAVCWRALPDGESNVLIAAN
  SQGTIKVLELV

• Sequence length: 731

Pathways

KEGG Pathway	Reactome Pathway
p53 signaling pathway	Autodegradation of the E3 ubiquitin ligase COP1
Ubiquitin mediated proteolysis	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 Show/Hide Unknown Diseases (16)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	38184787	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	19404257	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	31926635	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	32959083	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	36753304, 37085903, 39620219	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30718901, 31926635, 32959083, 33479212, 34924174, 36753304, 37464041, 38177345	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	36137488	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	36137488	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FAM117B 1 shared diseaseIrritable bowel syndrome 2 shared evidence sourcesGWAS catalog (Endometriosis), GWAS catalog (Irritable bowel syndrome) Related via 1 shared disease including Irritable bowel syndrome — evidence mostly GWAS catalog. MFHAS1 1 shared diseaseIrritable bowel syndrome 2 shared evidence sourcesGWAS catalog (Endometriosis), GWAS catalog (Irritable bowel syndrome) Related via 1 shared disease including Irritable bowel syndrome — evidence mostly GWAS catalog. UBE2F 2 shared pathwaysUbiquitin mediated proteolysis, Neddylation Related via 2 shared pathways including Ubiquitin mediated proteolysis, Neddylation. FBXW8 2 shared pathwaysUbiquitin mediated proteolysis, Neddylation Related via 2 shared pathways including Ubiquitin mediated proteolysis, Neddylation. FBXO4 2 shared pathwaysUbiquitin mediated proteolysis, Neddylation Related via 2 shared pathways including Ubiquitin mediated proteolysis, Neddylation.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FAM117B	1	["Irritable bowel syndrome"]	0	[]	2	["GWAS catalog (Endometriosis)","GWAS catalog (Irritable bowel syndrome)"]
MFHAS1	1	["Irritable bowel syndrome"]	0	[]	2	["GWAS catalog (Endometriosis)","GWAS catalog (Irritable bowel syndrome)"]
UBE2F	0	[]	2	["Ubiquitin mediated proteolysis","Neddylation"]	0	[]
FBXW8	0	[]	2	["Ubiquitin mediated proteolysis","Neddylation"]	0	[]
FBXO4	0	[]	2	["Ubiquitin mediated proteolysis","Neddylation"]	0	[]

Diseases Linked via Similar Genes

Asthma Linked via 2 of 5 related genesFAM117B, MFHAS1 Myocardial infarction Linked via 1 of 5 related genesFAM117B Sarcoidosis Linked via 1 of 5 related genesFAM117B Vascular dementia Linked via 1 of 5 related genesFAM117B Attention deficit hyperactivity disorder Linked via 1 of 5 related genesMFHAS1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Asthma	2	["FAM117B","MFHAS1"]
Myocardial infarction	1	["FAM117B"]
Sarcoidosis	1	["FAM117B"]
Vascular dementia	1	["FAM117B"]
Attention deficit hyperactivity disorder	1	["MFHAS1"]