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    RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase [ Homo sapiens ]

    Gene ID: 64326, updated on 11-May-2012
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    Summary

    Official Symbol
    RFWD2provided by HGNC
    Official Full Name
    ring finger and WD repeat domain 2, E3 ubiquitin protein ligaseprovided by HGNC
    Primary source
    HGNC:17440
    Locus tag
    RP11-318C24.3
    See related
    Ensembl:ENSG00000143207; HPRD:07455; MIM:608067; Vega:OTTHUMG00000034986
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COP1; RNF200; FLJ10416; RP11-318C24.3
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    Genomic context

    Location :
    1q25.1-q25.2
    Sequence :
    Chromosome: 1; NC_000001.10 (175913967..176176370, complement)
    See RFWD2 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene tenascin R (restrictin, janusin) Neighboring gene ribosomal protein S29 pseudogene 5 Neighboring gene small Cajal body-specific RNA 3 Neighboring gene zinc finger, AN1-type domain 1 pseudogene Neighboring gene ribosomal protein L13 pseudogene 7

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. COP9 signalosome subunit 6 stabilizes COP1, which functions as an E3 ubiquitin ligase for 14-3-3σ. Choi HH, et al. Oncogene, 2011 Dec 1. PMID 21625211.
    3. COP1 is a tumour suppressor that causes degradation of ETS transcription factors. Vitari AC, et al. Nature, 2011 May 15. PMID 21572435.
    4. Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1. Leikauf GD, et al. Am J Respir Crit Care Med, 2011 Jun 1. PMID 21297076.
    5. 14-3-3sigma exerts tumor-suppressor activity mediated by regulation of COP1 stability. Su CH, et al. Cancer Res, 2011 Feb 1. PMID 21135113.

    See all (30) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. data suggest that the CSN6-COP1 axis is involved in 14-3-3sigma degradation, and that deregulation of this axis will promote cell growth and tumorigenicity
      Title: COP9 signalosome subunit 6 stabilizes COP1, which functions as an E3 ubiquitin ligase for 14-3-3σ.
    2. the ubiquitin ligase COP1 (also known as RFWD2) is a tumour suppressor that negatively regulates ETV1, ETV4 and ETV5; ETV1, which is mutated in prostate cancer more often, was degraded after being ubiquitinated by COP1
      Title: COP1 is a tumour suppressor that causes degradation of ETS transcription factors.
    3. MDM2, MDMX, Pirh2 and COP1 might inhibit p53 activity synergistically in vivo.
      Title: Interplay between MDM2, MDMX, Pirh2 and COP1: the negative regulators of p53.
    4. RFWD2 is associated with acute lung injury in mice
      Title: Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.
    5. Data define the subcellular localization and regulation of COP1 after DNA damage and provide a mechanistic explanation for the notion that 14-3-3sigma's impact on the inhibition of p53 E3 ligases is an important step for p53 stabilization after DNA dam...
      Title: Nuclear export regulation of COP1 by 14-3-3σ in response to DNA damage.
    6. Increased COP1 is associated with hepatocellular carcinoma.
      Title: Definition of ubiquitination modulator COP1 as a novel therapeutic target in human hepatocellular carcinoma.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. COP1 contributes to UVB-induced signaling in human keratinocytes
      Title: COP1 contributes to UVB-induced signaling in human keratinocytes.
    10. Disruption of the COP1-mediated proteolysis by ionizing radiation leads to MTA1 stabilization.
      Title: E3 ubiquitin ligase COP1 regulates the stability and functions of MTA1.
    Submit: New GeneRIF Correction See all (17)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_071902.2 NP_060466.2 DET1    BIND  PubMed hDET1 interacts with the coiled coil domain of hCOP1. 
    NP_071902.2 NP_002219.1 JUN    BIND  PubMed The carboxy-terminal WD-40 repeat region of hCOP1 interacts with c-jun. 
    NP_071902.2 NP_000537.2 TP53    BIND  PubMed The ubiquitin ligase COP1 interacts with p53 to cause p53 degradation. 
    Q8NHY2 Q7L5Y6 DET1    HPRD  PubMed  
    Q8NHY2 P05412 JUN    HPRD  PubMed  
    Q8NHY2 P17535 JUND    HPRD  PubMed  
    Q8NHY2 Q8NHY2 RFWD2    HPRD  PubMed  
    Q8NHY2 Q96FS4 SIPA1    HPRD  PubMed  
    Q8NHY2 P04637 TP53    HPRD  PubMed  
    BioGRID:122136 BioGRID:115827 CCT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:113054 CCT3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:115826 CCT4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:116603 CCT5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:107346 CCT6A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:115825 CCT7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:115933 CCT8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:114729 COPS2    BioGRID  PubMed Co-fractionation 
    BioGRID:122136 BioGRID:116124 COPS8    BioGRID  PubMed Co-fractionation 
    BioGRID:122136 BioGRID:128308 CRTC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:114029 CUL4A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:114028 CUL4B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122136 BioGRID:120387 DET1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122136 BioGRID:108416 ETV1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122136 BioGRID:108419 ETV4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122136 BioGRID:108420 ETV5    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122136 BioGRID:108597 FOXO1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:109538 HSPA2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:109542 HSPA6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:109544 HSPA8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:109928 JUN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:109930 JUND    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:110358 MDM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:110359 MDM4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:115301 RBX1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:117406 RCHY1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:122136 RFWD2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:122136 BioGRID:112385 SIPA1    BioGRID  PubMed Two-hybrid 
    BioGRID:122136 BioGRID:112810 TCP1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation 
    BioGRID:122136 BioGRID:113010 TP53    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:121756 TRIB3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122136 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122136 BioGRID:116272 WDR5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122136 BioGRID:113361 YWHAB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:122136 BioGRID:113366 YWHAZ    BioGRID  PubMed Affinity Capture-Western; Co-localization; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Autodegradation of the E3 ubiquitin ligase COP1, organism-specific biosystem (from REACTOME)
      Autodegradation of the E3 ubiquitin ligase COP1, organism-specific biosystemCOP1 is one of several E3 ubiquitin ligases responsible for the tight regulation of p53 abundance. Following DNA damage, COP1 dissociates from p53 and is inactivated by autodegradation via a path...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • G1/S DNA Damage Checkpoints, organism-specific biosystem (from REACTOME)
      G1/S DNA Damage Checkpoints, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding ...
    • Stabilization of p53, organism-specific biosystem (from REACTOME)
      Stabilization of p53, organism-specific biosystemLater studies pin-pointed that a single serine (Ser-15) was phosphorylated by ATM and phosphorylation of Ser-15 was rapidly-induced in IR-treated cells and this response was ATM-dependent (Canman et ...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53-Dependent G1 DNA Damage Response, organism-specific biosystem (from REACTOME)
      p53-Dependent G1 DNA Damage Response, organism-specific biosystemMost of the damage-induced modifications of p53 are dependent on the ATM kinase. The first link between ATM and p53 was predicted based on the earlier studies that showed that AT cells exhibit a redu...
    • p53-Dependent G1/S DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      p53-Dependent G1/S DNA damage checkpoint, organism-specific biosystemThe arrest at G1/S checkpoint is mediated by the action of a widely known tumor suppressor protein, p53. Loss of p53 functions, as a result of mutations in cancer prevent the G1/S checkpoint (Kuerbi...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
    Traceable Author Statement
    more info
    		  
    cell cycle checkpoint TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase RFWD2
    Names
    E3 ubiquitin-protein ligase RFWD2
    hCOP1
    RING finger protein 200
    putative ubiquitin ligase COP1
    RING finger and WD repeat domain protein 2
    constitutive photomorphogenic protein (COP1)
    constitutive photomorphogenesis protein 1 homolog
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001001740.2 → NP_001001740.1  E3 ubiquitin-protein ligase RFWD2 isoform d24

      Status: VALIDATED

      Source sequence(s)
      AY509921, BC020845, BC039723, CD101686
      Consensus CDS
      CCDS44279.1
      UniProtKB/TrEMBL
      Q05CT6
      UniProtKB/Swiss-Prot
      Q8NHY2
      Related
      ENSP00000310943, OTTHUMP00000235258, ENST00000308769, OTTHUMT00000393314
      Conserved Domains (3) summary
      cd00162
      Location:136 – 177
      Blast Score: 115
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd00200
      Location:397 – 703
      Blast Score: 347
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      pfam13923
      Location:132 – 175
      Blast Score: 137
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    2. NM_022457.5 → NP_071902.2  E3 ubiquitin-protein ligase RFWD2 isoform a

      Status: VALIDATED

      Source sequence(s)
      AF508940, AY509921, BC020845, BC039723, CD101686
      Consensus CDS
      CCDS30944.1
      UniProtKB/TrEMBL
      Q05CT6
      UniProtKB/TrEMBL
      Q504W6
      UniProtKB/Swiss-Prot
      Q8NHY2
      Related
      ENSP00000356641, OTTHUMP00000032911, ENST00000367669, OTTHUMT00000084672
      Conserved Domains (3) summary
      cd00162
      Location:136 – 177
      Blast Score: 116
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd00200
      Location:421 – 727
      Blast Score: 349
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      pfam13923
      Location:132 – 175
      Blast Score: 138
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      175913967..176176370, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      147140664..147403100, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL162736.20 CAH73623.1
      CAH73624.1
      CAH73625.1
    genomic AL359265.8 CAH71138.1
      CAH71139.1
      CAH71140.1
    genomic AL513329.6 CAH72422.1
      CAH72423.1
      CAH72425.1
    genomic AL590723.13 CAI14641.1
      CAI14642.1
      CAI14643.1
    genomic BK000438.1 DAA01050.1
    genomic CH471067.1 EAW90999.1
      EAW91000.1
      EAW91001.1
      EAW91002.1
    mRNA AF508940.1 AAM34692.1
    mRNA AF527539.1 AAQ08989.1
    mRNA AK001278.1 BAG50884.1
    mRNA AK314750.1 BAG37289.1
    mRNA AY509921.1 AAS82851.1
    mRNA BC020845.1 AAH20845.1
    mRNA BC039723.1 None
    mRNA BC094728.1 AAH94728.1
    mRNA BX537932.1 None
    mRNA CD101686.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05CT6 GenPept UniProtKB/TrEMBL:Q05CT6
    Q8NHY2.1 GenPept UniProtKB/Swiss-Prot:Q8NHY2
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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