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

Gene ID: 55070, updated on 11-Apr-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 ligase-substrate adaptor activity and ubiquitin protein ligase binding 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, Apr 2022]
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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Location:
15q26.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88501919..88546703, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86256518..86301304, complement)
105.20220307 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
  • 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. Mutant p53 protects ETS2 from non-canonical COP1/DET1 dependent degradation. Carrero ZI, et al. Oncotarget, 2016 Mar 15. PMID 26871468, Free PMC Article
  3. 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
  4. 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
  5. Dynamic ubiquitylation of Sox2 regulates proteostasis and governs neural progenitor cell differentiation. Cui CP, et al. Nat Commun, 2018 Nov 7. PMID 30405104, Free PMC Article

See all (28) 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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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_2023_10

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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