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COP1 (COP1, E3 ubiquitin ligase)

Identity

Other aliasRFWD2
RNF200
HGNC (Hugo) COP1
LocusID (NCBI) 64326
Atlas_Id 57360
Location 1q25.1  [Link to chromosome band 1q25]
Location_base_pair Starts at 175944826 and ends at 176207244 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;1)(q25;q25) COP1/TNFSF18


External links

Nomenclature
HGNC (Hugo)COP1   17440
Cards
Entrez_Gene (NCBI)COP1  64326  COP1, E3 ubiquitin ligase
AliasesRFWD2; RNF200
GeneCards (Weizmann)COP1
Ensembl hg19 (Hinxton)ENSG00000143207 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143207 [Gene_View]  ENSG00000143207 [Sequence]  chr1:175944826-176207244 [Contig_View]  COP1 [Vega]
ICGC DataPortalENSG00000143207
TCGA cBioPortalCOP1
AceView (NCBI)COP1
Genatlas (Paris)COP1
WikiGenes64326
SOURCE (Princeton)COP1
Genetics Home Reference (NIH)COP1
Genomic and cartography
GoldenPath hg38 (UCSC)COP1  -     chr1:175944826-176207244 -  1q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COP1  -     1q25.1   [Description]    (hg19-Feb_2009)
EnsemblCOP1 - 1q25.1 [CytoView hg19]  COP1 - 1q25.1 [CytoView hg38]
Mapping of homologs : NCBICOP1 [Mapview hg19]  COP1 [Mapview hg38]
OMIM608067   
Gene and transcription
Genbank (Entrez)AF508940 AF527539 AK001278 AK314750 AY509921
RefSeq transcript (Entrez)NM_001001740 NM_001286644 NM_022457
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COP1
Cluster EST : UnigeneHs.523744 [ NCBI ]
CGAP (NCI)Hs.523744
Alternative Splicing GalleryENSG00000143207
Gene ExpressionCOP1 [ NCBI-GEO ]   COP1 [ EBI - ARRAY_EXPRESS ]   COP1 [ SEEK ]   COP1 [ MEM ]
Gene Expression Viewer (FireBrowse)COP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64326
GTEX Portal (Tissue expression)COP1
Human Protein AtlasENSG00000143207-COP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NHY2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NHY2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NHY2
Splice isoforms : SwissVarQ8NHY2
PhosPhoSitePlusQ8NHY2
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)RING (SM00184)  WD40 (SM00320)  
Conserved Domain (NCBI)COP1
DMDM Disease mutations64326
Blocks (Seattle)COP1
PDB (SRS)5HQG    5IGQ   
PDB (PDBSum)5HQG    5IGQ   
PDB (IMB)5HQG    5IGQ   
PDB (RSDB)5HQG    5IGQ   
Structural Biology KnowledgeBase5HQG    5IGQ   
SCOP (Structural Classification of Proteins)5HQG    5IGQ   
CATH (Classification of proteins structures)5HQG    5IGQ   
SuperfamilyQ8NHY2
Human Protein Atlas [tissue]ENSG00000143207-COP1 [tissue]
Peptide AtlasQ8NHY2
IPIIPI00171771   IPI00431955   IPI00184865   IPI00974420   IPI00940623   IPI00644382   IPI00978479   IPI00980524   IPI00979234   
Protein Interaction databases
DIP (DOE-UCLA)Q8NHY2
IntAct (EBI)Q8NHY2
FunCoupENSG00000143207
BioGRIDCOP1
STRING (EMBL)COP1
ZODIACCOP1
Ontologies - Pathways
QuickGOQ8NHY2
Ontology : AmiGOGolgi membrane  ubiquitin-protein transferase activity  protein binding  nucleoplasm  cytosol  response to ionizing radiation  protein ubiquitination  nuclear speck  Cul4A-RING E3 ubiquitin ligase complex  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  post-translational protein modification  metal ion binding  ubiquitin protein ligase activity  
Ontology : EGO-EBIGolgi membrane  ubiquitin-protein transferase activity  protein binding  nucleoplasm  cytosol  response to ionizing radiation  protein ubiquitination  nuclear speck  Cul4A-RING E3 ubiquitin ligase complex  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  post-translational protein modification  metal ion binding  ubiquitin protein ligase activity  
NDEx NetworkCOP1
Atlas of Cancer Signalling NetworkCOP1
Wikipedia pathwaysCOP1
Orthology - Evolution
OrthoDB64326
GeneTree (enSembl)ENSG00000143207
Phylogenetic Trees/Animal Genes : TreeFamCOP1
HOVERGENQ8NHY2
HOGENOMQ8NHY2
Homologs : HomoloGeneCOP1
Homology/Alignments : Family Browser (UCSC)COP1
Gene fusions - Rearrangements
Fusion : QuiverCOP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COP1
dbVarCOP1
ClinVarCOP1
1000_GenomesCOP1 
Exome Variant ServerCOP1
ExAC (Exome Aggregation Consortium)ENSG00000143207
GNOMAD BrowserENSG00000143207
Varsome BrowserCOP1
Genetic variants : HAPMAP64326
Genomic Variants (DGV)COP1 [DGVbeta]
DECIPHERCOP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOP1 
Mutations
ICGC Data PortalCOP1 
TCGA Data PortalCOP1 
Broad Tumor PortalCOP1
OASIS PortalCOP1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCOP1
BioMutasearch COP1
DgiDB (Drug Gene Interaction Database)COP1
DoCM (Curated mutations)COP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COP1 (select a term)
intoGenCOP1
Cancer3DCOP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608067   
Orphanet
DisGeNETCOP1
MedgenCOP1
Genetic Testing Registry COP1
NextProtQ8NHY2 [Medical]
TSGene64326
GENETestsCOP1
Target ValidationCOP1
Huge Navigator COP1 [HugePedia]
snp3D : Map Gene to Disease64326
BioCentury BCIQCOP1
ClinGenCOP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64326
Chemical/Pharm GKB GenePA134952161
Clinical trialCOP1
Miscellaneous
canSAR (ICR)COP1 (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOP1
EVEXCOP1
GoPubMedCOP1
iHOPCOP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:59:34 CET 2018

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