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Aliases for COP1 Gene

Aliases for COP1 Gene

  • COP1, E3 Ubiquitin Ligase 2 3
  • Constitutive Photomorphogenesis Protein 1 Homolog 3 4
  • RING-Type E3 Ubiquitin Transferase RFWD2 3 4
  • Ring Finger And WD Repeat Domain 2 2 5
  • RING Finger Protein 200 3 4
  • RNF200 3 4
  • RFWD2 3 5
  • Ring Finger And WD Repeat Domain 2, E3 Ubiquitin Protein Ligase 3
  • Constitutive Photomorphogenic Protein 1 (Arabidopsis) 2
  • RING Finger And WD Repeat Domain Protein 2 4
  • Constitutive Photomorphogenic Protein 1 3
  • E3 Ubiquitin-Protein Ligase RFWD2 3
  • Putative Ubiquitin Ligase COP1 3
  • EC 2.3.2.27 4
  • HCOP1 4

External Ids for COP1 Gene

Previous HGNC Symbols for COP1 Gene

  • RFWD2

Previous GeneCards Identifiers for COP1 Gene

  • GC01M173438
  • GC01M171342
  • GC01M172494
  • GC01M173153
  • GC01M172645
  • GC11M104419

Summaries for COP1 Gene

GeneCards Summary for COP1 Gene

COP1 (COP1, E3 Ubiquitin Ligase) is a Protein Coding gene. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Direct p53 effectors. An important paralog of this gene is RBBP4.

UniProtKB/Swiss-Prot for COP1 Gene

  • 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 transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and proteasomal degradation, leading to AKT activation and promotion of cell survival. Ubiquitinates MTA1 leading to its proteasomal degradation. Upon binding to TRIB1, ubiquitinates CEBPA, which lacks a canonical COP1-binding motif (Probable).

Gene Wiki entry for COP1 Gene

Additional gene information for COP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COP1 Gene

Genomics for COP1 Gene

GeneHancer (GH) Regulatory Elements for COP1 Gene

Promoters and enhancers for COP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I176205 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 573.9 +0.5 506 4 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 COP1 ENSG00000236021 ENSG00000228686
GH01I175220 Enhancer 1.1 Ensembl ENCODE dbSUPER 13.3 +985.5 985513 2.8 CTCF PKNOX1 NFATC3 TEAD4 HLF MAFG REST RAD21 NR2F2 ZNF395 GC01P175221 COP1 KIAA0040 RPS29P4
GH01I175839 Enhancer 1.2 Ensembl ENCODE 11.7 +366.6 366607 2.7 PKNOX1 CLOCK FOXA2 FEZF1 ZNF2 GLIS2 ZNF213 ELK1 KLF7 FOS COP1 LINC01657 TNR
GH01I176241 Enhancer 1 Ensembl ENCODE 11 -34.1 -34117 1.2 HDAC1 ATF1 BRCA1 ZNF335 SCRT2 RCOR1 FOS ATF7 CEBPB ZEB2 ENSG00000236021 COP1 RNU2-12P GC01M176243 RPL13P7
GH01I176058 Enhancer 0.6 ENCODE 4.3 +148.0 148048 1.6 SOX13 PKNOX1 SP5 ZNF384 FEZF1 ZNF507 TEAD3 BCL6 NR2F6 ENSG00000227740 COP1 ENSG00000228686
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COP1 Gene

Genomic Locations for COP1 Gene
chr1:175,944,826-176,207,493
(GRCh38/hg38)
Size:
262,668 bases
Orientation:
Minus strand
chr1:175,913,967-176,176,629
(GRCh37/hg19)

Genomic View for COP1 Gene

Genes around COP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COP1 Gene

Proteins for COP1 Gene

  • Protein details for COP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHY2-RFWD2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RFWD2
    Protein Accession:
    Q8NHY2
    Secondary Accessions:
    • E9PKI0
    • Q504W6
    • Q6H103
    • Q9H6L7
    • X5D9B4

    Protein attributes for COP1 Gene

    Size:
    731 amino acids
    Molecular mass:
    80474 Da
    Quaternary structure:
    • Homodimer. Homodimerization is mediated by the coiled coil domain. Component of the DCX DET1-COP1 ubiquitin ligase complex at least composed of RBX1, DET1, DDB1, CUL4A and COP1. Isoform 2 does not interact with CUL4A but still binds to RBX1, suggesting that the interaction may be mediated by another cullin protein. Isoform 1 and isoform 2 interact with CUL5 but not with CUL1, CUL2 not CUL3. Interacts with bZIP transcription factors JUN, JUNB and JUND but not with FOS, ATF2 nor XBP1. Interacts with p53 (TP53). Interacts with COPS6; this interaction stabilizes RFWD2 through reducing its auto-ubiquitination and decelerating its turnover rate. Interacts with SFN; this interaction leads to SFN degradation. Isoform 4 forms heterodimers with isoform 1, preventing its association with DET1. Interacts with p53/TP53 and MTA1. Interacts with TRIB1 (via C-terminus) and TRIB2 (PubMed:20410507, PubMed:27041596).

    Three dimensional structures from OCA and Proteopedia for COP1 Gene

    Alternative splice isoforms for COP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COP1 Gene

Post-translational modifications for COP1 Gene

  • Autoubiquitinated. MTA1 destabilizes it by promoting its autoubiquitination.

No data available for DME Specific Peptides for COP1 Gene

Domains & Families for COP1 Gene

Gene Families for COP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NHY2

UniProtKB/Swiss-Prot:

RFWD2_HUMAN :
  • The RING finger domain, in addition to its role in ubiquitination, functions as a structural scaffold to bring two clusters of positive-charged residues within spatial proximity to mimic a bipartite nuclear localization signal (NLS) (By similarity).
  • Belongs to the COP1 family.
Domain:
  • The RING finger domain, in addition to its role in ubiquitination, functions as a structural scaffold to bring two clusters of positive-charged residues within spatial proximity to mimic a bipartite nuclear localization signal (NLS) (By similarity).
  • The WD40 domain (386-731) is necessary and sufficient for TRIB1 binding (PubMed:27041596).
Family:
  • Belongs to the COP1 family.
genes like me logo Genes that share domains with COP1: view

Function for COP1 Gene

Molecular function for COP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot EnzymeRegulation:
TRIB1 competes with substrates for RFWD2 binding.
UniProtKB/Swiss-Prot 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 transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and proteasomal degradation, leading to AKT activation and promotion of cell survival. Ubiquitinates MTA1 leading to its proteasomal degradation. Upon binding to TRIB1, ubiquitinates CEBPA, which lacks a canonical COP1-binding motif (Probable).
UniProtKB/Swiss-Prot Induction:
By p53/TP53.

Enzyme Numbers (IUBMB) for COP1 Gene

Phenotypes From GWAS Catalog for COP1 Gene

Gene Ontology (GO) - Molecular Function for COP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 14739464
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IMP 19805145
genes like me logo Genes that share ontologies with COP1: view
genes like me logo Genes that share phenotypes with COP1: view

Animal Models for COP1 Gene

MGI Knock Outs for COP1:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COP1 Gene

Localization for COP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COP1 Gene

Nucleus speckle. Cytoplasm. Note=In the nucleus, it forms nuclear speckles.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COP1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for COP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with COP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COP1 Gene

Pathways & Interactions for COP1 Gene

genes like me logo Genes that share pathways with COP1: view

UniProtKB/Swiss-Prot Q8NHY2-RFWD2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for COP1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for COP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010212 response to ionizing radiation IDA 19805145
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 19805145
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IMP 14739464
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with COP1: view

Drugs & Compounds for COP1 Gene

No Compound Related Data Available

Transcripts for COP1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COP1 Gene

No ASD Table

Relevant External Links for COP1 Gene

GeneLoc Exon Structure for
COP1
ECgene alternative splicing isoforms for
COP1

Expression for COP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of COP1 Gene:

COP1

mRNA Expression by UniProt/SwissProt for COP1 Gene:

Q8NHY2-RFWD2_HUMAN
Tissue specificity: Ubiquitously expressed at low level. Expressed at higher level in testis, placenta, skeletal muscle and heart.

Evidence on tissue expression from TISSUES for COP1 Gene

  • Spleen(4.3)
  • Nervous system(4.3)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for COP1 Gene

Orthologs for COP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFWD2 34 33
  • 99.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFWD2 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RFWD2 33 34
  • 94.16 (n)
oppossum
(Monodelphis domestica)
Mammalia RFWD2 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfwd2 33
  • 92.76 (n)
mouse
(Mus musculus)
Mammalia Rfwd2 34 33
  • 92.66 (n)
OneToOne
Cop1 16
dog
(Canis familiaris)
Mammalia RFWD2 33 34
  • 92.16 (n)
chicken
(Gallus gallus)
Aves RFWD2 34 33
  • 83.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFWD2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfwd2 33
  • 78.95 (n)
Str.6916 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5221 33
zebrafish
(Danio rerio)
Actinopterygii rfwd2 33 34
  • 73.53 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HAT2 34
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons COP1 33
  • 52.44 (n)
rice
(Oryza sativa)
Liliopsida Os02g0771100 33
  • 52.47 (n)
Os.3433 33
barley
(Hordeum vulgare)
Liliopsida Hv.8969 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6275 33
Species where no ortholog for COP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COP1 Gene

ENSEMBL:
Gene Tree for COP1 (if available)
TreeFam:
Gene Tree for COP1 (if available)

Paralogs for COP1 Gene

Paralogs for COP1 Gene

Pseudogenes.org Pseudogenes for COP1 Gene

genes like me logo Genes that share paralogs with COP1: view

Variants for COP1 Gene

Sequence variations from dbSNP and Humsavar for COP1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000017122 -- 176,090,804(-) A/C intron_variant
rs1000019723 -- 176,053,061(-) T/A intron_variant
rs1000019936 -- 176,050,029(-) T/C intron_variant
rs1000072284 -- 176,086,664(-) T/C intron_variant
rs1000075685 -- 176,171,613(-) T/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COP1 Gene

Variant ID Type Subtype PubMed ID
nsv947452 CNV duplication 23825009
nsv8558 CNV loss 18304495
nsv548246 CNV loss 21841781
nsv483037 CNV gain 15286789
nsv1122422 CNV deletion 24896259
esv3890782 CNV loss 25118596
esv3587998 CNV loss 21293372
esv3587996 CNV loss 21293372
esv3578282 CNV loss 25503493
esv2719762 CNV deletion 23290073
esv2719751 CNV deletion 23290073
esv2719740 CNV deletion 23290073
esv2719684 CNV deletion 23290073
esv2576730 CNV deletion 19546169
esv1757113 CNV deletion 17803354
dgv40e201 CNV deletion 23290073
dgv39e201 CNV deletion 23290073

Variation tolerance for COP1 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COP1 Gene

Disorders for COP1 Gene

Additional Disease Information for COP1

No disorders were found for COP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COP1 Gene

Publications for COP1 Gene

  1. E3 ubiquitin ligase COP1 regulates the stability and functions of MTA1. (PMID: 19805145) Li DQ … Kumar R (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 58
  2. Characterization of human constitutive photomorphogenesis protein 1, a RING finger ubiquitin ligase that interacts with Jun transcription factors and modulates their transcriptional activity. (PMID: 12615916) Bianchi E … Pardi R (The Journal of biological chemistry 2003) 3 4 22 58
  3. An initial biochemical and cell biological characterization of the mammalian homologue of a central plant developmental switch, COP1. (PMID: 12466024) Yi C … Deng XW (BMC cell biology 2002) 3 4 22 58
  4. Structural Basis for Substrate Selectivity of the E3 Ligase COP1. (PMID: 27041596) Uljon S … Blacklow SC (Structure (London, England : 1993) 2016) 3 4 58
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 4 58

Products for COP1 Gene

Sources for COP1 Gene

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