COP1 (COP1 E3 ubiquitin ligase)

Gene
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64326
Gene name Gene Name - the full gene name approved by the HGNC.
COP1 E3 ubiquitin ligase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COP1
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP78, FAP78, RFWD2, RNF200
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.1-q25.2
Transcription factors
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
RFWD2 Repression 20062082
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
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
GO:0005654 Component Nucleoplasm TAS
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608067 17440 ENSG00000143207
Protein
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
PF13923 zf-C3HC4_2 135 → 173 Domain
PF00400 WD40 461 → 499 WD domain, G-beta repeat Repeat
PF00400 WD40 503 → 542 WD domain, G-beta repeat Repeat
PF00400 WD40 547 → 584 WD domain, G-beta repeat Repeat
PF00400 WD40 589 → 626 WD domain, G-beta repeat Repeat
PF00400 WD40 630 → 667 WD domain, G-beta repeat Repeat
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  p53 signaling pathway
Ubiquitin mediated proteolysis 		  Autodegradation of the E3 ubiquitin ligase COP1
Neddylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)		 19404257
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Neuroticism Neuroticism GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining
Disease Name Relationship Type References
Autistic Disorder Associate 19404257
Carcinogenesis Stimulate 37025097
Neoplasms Associate 15919663, 24875049, 26871468
Neoplasms Stimulate 23091414
Neoplasms Inhibit 25884720, 36251994
Prostatic Neoplasms Inhibit 36251994
Schizophrenia Associate 28117656
Stomach Neoplasms Associate 23091414
Stomach Neoplasms Stimulate 37025097
Triple Negative Breast Neoplasms Associate 25884720