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    DET1 de-etiolated homolog 1 (Arabidopsis) [ Homo sapiens ]

    Gene ID: 55070, updated on 11-May-2012
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    Summary

    Official Symbol
    DET1provided by HGNC
    Official Full Name
    de-etiolated homolog 1 (Arabidopsis)provided by HGNC
    Primary source
    HGNC:25477
    See related
    Ensembl:ENSG00000140543; HPRD:13140; MIM:608727; Vega:OTTHUMG00000171851
    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
    FLJ10103; MGC126156; MGC126157
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    Genomic context

    Location :
    15q25.3
    Sequence :
    Chromosome: 15; NC_000015.9 (89055714..89089912, complement)
    See DET1 in Epigenomics, MapViewer

    Chromosome 15 - NC_000015.9Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L46 Neighboring gene mitochondrial ribosomal protein S11 Neighboring gene microRNA 1179 Neighboring gene microRNA 3529 Neighboring gene microRNA 7-2

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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. COP1 is a tumour suppressor that causes degradation of ETS transcription factors. Vitari AC, et al. Nature, 2011 May 15. PMID 21572435.
    2. Mammalian DET1 regulates Cul4A activity and forms stable complexes with E2 ubiquitin-conjugating enzymes. Pick E, et al. Mol Cell Biol, 2007 Jul. PMID 17452440.
    3. Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase machinery. Angers S, et al. Nature, 2006 Oct 5. PMID 16964240.
    4. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. Jin J, et al. Mol Cell, 2006 Sep 1. PMID 16949367.
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.

    See all (9) 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. These findings demonstrate that the conserved DET1 complex modulates Cul4A functions by a novel mechanism.
      Title: Mammalian DET1 regulates Cul4A activity and forms stable complexes with E2 ubiquitin-conjugating enzymes.
    2. promotes ubiquitination and degradation of c-Jun by assembling a multisubunit ubiquitin ligase containing DNA Damage Binding Protein-1 (DDB1), cullin 4A (CUL4A), Regulator of Cullins-1 (ROC1), and constitutively photomorphogenic-1
      Title: Human De-etiolated-1 regulates c-Jun by assembling a CUL4A ubiquitin ligase.
    Submit: New GeneRIF Correction
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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_060466.2 NP_001914.2 DDB1    BIND  PubMed hDET1 interacts with DDB1. 
    NP_060466.2 NP_071902.2 RFWD2    BIND  PubMed hDET1 interacts with the coiled coil domain of hCOP1. 
    Q7L5Y6 Q16531 DDB1    HPRD  PubMed  
    Q7L5Y6 Q8NHY2 RFWD2    HPRD  PubMed  
    BioGRID:120387 BioGRID:114029 CUL4A    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:120387 BioGRID:114028 CUL4B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120387 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:120387 BioGRID:115301 RBX1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120387 BioGRID:122136 RFWD2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • 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...

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    DET1 homolog
    Names
    DET1 homolog
    de-etiolated 1
    de-etiolated-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_001144074.1 → NP_001137546.1  DET1 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks the alternate exon containing the translation start site in variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK054603, BC109060, DA655836
      Consensus CDS
      CCDS45344.1
      UniProtKB/Swiss-Prot
      Q7L5Y6
      Related
      ENSP00000268148, OTTHUMP00000246969, ENST00000268148, OTTHUMT00000415442
      Conserved Domains (1) summary
      pfam09737
      Location:142 – 547
      Blast Score: 1565
      Det1; De-etiolated protein 1 Det1

    2. NM_017996.3 → NP_060466.2  DET1 homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK054603, DA655836
      Consensus CDS
      CCDS45343.1
      UniProtKB/Swiss-Prot
      Q7L5Y6
      Related
      ENSP00000456340, OTTHUMP00000254630, ENST00000564406, OTTHUMT00000432801
      Conserved Domains (1) summary
      pfam09737
      Location:153 – 558
      Blast Score: 1568
      Det1; De-etiolated protein 1 Det1

    RNA

    1. NR_026645.1 RNA Sequence

      Description
      Transcript Variant: This variant (3) lacks a segment of a coding exon compared to variant 1, that causes a frameshift. This variant is unlikely to encode a protein.
      Source sequence(s)
      BC064591, DA655836

    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_000015.9 Reference GRCh37.p5 Primary Assembly

      Range
      89055714..89089912, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000147.1 Alternate HuRef

      Range
      65167746..65201951, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC013489.17 (87009..121179) None
    genomic CH471101.1 EAX02003.1
      EAX02004.1
      EAX02005.1
      EAX02006.1
    mRNA AB073887.1 None
    mRNA AK000965.1 BAA91447.1
    mRNA AK054603.1 BAG51398.1
    mRNA BC001242.2 AAH01242.2
    mRNA BC064591.1 None
    mRNA BC073867.1 None
    mRNA BC109060.1 AAI09061.1
    mRNA BC109061.1 AAI09062.1
    mRNA DA655836.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L5Y6.2 GenPept UniProtKB/Swiss-Prot:Q7L5Y6
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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.

    Chemical Information
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    Tools
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      Supplemental Content

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