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    DET1 DET1 partner of COP1 E3 ubiquitin ligase [ Homo sapiens (human) ]

    Gene ID: 55070, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DET1provided by HGNC
    Official Full Name
    DET1 partner of COP1 E3 ubiquitin ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:25477
    See related
    Ensembl:ENSG00000140543 MIM:608727; AllianceGenome:HGNC:25477
    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
    Summary
    Enables ubiquitin protein ligase binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; and protein-containing complex assembly. Part of Cul4A-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 3.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See DET1 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88501919..88546703, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86256518..86301304, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89045150..89089934, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:89008954-89010153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10027 Neighboring gene mitochondrial ribosomal protein L46 Neighboring gene mitochondrial ribosomal protein S11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89027733-89028522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89031074-89031591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89031592-89032108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89034431-89034930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89039910-89040410 Neighboring gene NANOG hESC enhancer GRCh37_chr15:89045662-89046192 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:89047351-89048125 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89081925-89082504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89084239-89084817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89084818-89085395 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89085416-89085617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6789 Neighboring gene uncharacterized LOC124903547 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:89090642-89091516 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:89104975-89105595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89111661-89112160 Neighboring gene long intergenic non-protein coding RNA 1586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89147601-89148307 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89149021-89149458 Neighboring gene microRNA 1179 Neighboring gene apoptosis enhancing nuclease

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. COP1/DET1/ETS axis regulates ERK transcriptome and sensitivity to MAPK inhibitors. Xie Y, et al. J Clin Invest, 2018 Apr 2. PMID 29360641, Free PMC Article
    2. COP1D, an alternatively spliced constitutive photomorphogenic-1 (COP1) product, stabilizes UV stress-induced c-Jun through inhibition of full-length COP1. Savio MG, et al. Oncogene, 2008 Apr 10. PMID 17968316
    3. Mutant p53 protects ETS2 from non-canonical COP1/DET1 dependent degradation. Carrero ZI, et al. Oncotarget, 2016 Mar 15. PMID 26871468, Free PMC Article
    4. Erk1/2 inactivation promotes a rapid redistribution of COP1 and degradation of COP1 substrates. Ouyang W, et al. Proc Natl Acad Sci U S A, 2020 Feb 25. PMID 32041890, Free PMC Article
    5. The pseudokinase TRIB1 toggles an intramolecular switch to regulate COP1 nuclear export. Kung JE, et al. EMBO J, 2019 Feb 15. PMID 30692133, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MRPL46

    Homology

    Clone Names

    • FLJ10103, FLJ33447, MGC126156, MGC126157

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-like ligase-substrate adaptor activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of cullin-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DET1 homolog
    Names
    DET1, COP1 ubiquitin ligase partner
    de-etiolated homolog 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001144074.3 → NP_001137546.1  DET1 homolog isoform 2

      See identical proteins and their annotated locations for NP_001137546.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' region compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK054603, AL707845, BC001242, BC109060
      Consensus CDS
      CCDS45344.1
      UniProtKB/Swiss-Prot
      B3KNN6, Q2VPC0, Q7L5Y6, Q9NWD5
      Related
      ENSP00000268148.8, ENST00000268148.13
      Conserved Domains (1) summary
      pfam09737
      Location:142 → 546
      Det1; De-etiolated protein 1 Det1

    2. NM_001321594.2 → NP_001308523.1  DET1 homolog isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC013489
      Conserved Domains (1) summary
      pfam09737
      Location:108 → 512
      Det1; De-etiolated protein 1 Det1

    3. NM_001321596.1 → NP_001308525.1  DET1 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC013489
      Consensus CDS
      CCDS45344.1
      UniProtKB/Swiss-Prot
      B3KNN6, Q2VPC0, Q7L5Y6, Q9NWD5
      Conserved Domains (1) summary
      pfam09737
      Location:142 → 546
      Det1; De-etiolated protein 1 Det1

    4. NM_017996.5 → NP_060466.2  DET1 homolog isoform 1

      See identical proteins and their annotated locations for NP_060466.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK054603, AL707845, BC001242
      Consensus CDS
      CCDS45343.1
      UniProtKB/Swiss-Prot
      Q7L5Y6
      Related
      ENSP00000456340.1, ENST00000564406.5
      Conserved Domains (1) summary
      pfam09737
      Location:153 → 557
      Det1; De-etiolated protein 1 Det1

    RNA

    1. NR_026645.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL707845, BC001242, BC064591
      Related
      ENST00000557837.1

    2. NR_135739.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL707845, BC073867
      Related
      ENST00000557842.6

    3. NR_135740.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL707845, BC001242, BU856989

    4. NR_135741.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL707845, BC001242, BG116971

    5. NR_135742.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC013489

    6. NR_135743.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC013489

    7. NR_135744.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC013489

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      88501919..88546703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      86256518..86301304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L5Y6.2 GenPept UniProtKB/Swiss-Prot:Q7L5Y6

    Gene LinkOut

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

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