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

Gene ID: 55070, updated on 5-Apr-2020

Summary

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 Ensembl:ENSG00000173867 MIM:608727
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
Expression
Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See DET1 in Genome Data Viewer
Location:
15q26.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (88501919..88546703, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89036449..89089934, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L46 Neighboring gene mitochondrial ribosomal protein S11 Neighboring gene long intergenic non-protein coding RNA 1586 Neighboring gene microRNA 1179 Neighboring gene apoptosis enhancing nuclease

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MRPL46

Homology

Clone Names

  • FLJ10103, FLJ33447, MGC126156, MGC126157

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging involved in substrate recognition for ubiquitination IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IPI
Inferred from Physical Interaction
more info
PubMed 
protein ubiquitination IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Cul4-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
Cul4A-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_001144074.3NP_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
    Q7L5Y6
    UniProtKB/TrEMBL
    A0A024RC56
    Related
    ENSP00000268148.8, ENST00000268148.12
    Conserved Domains (1) summary
    pfam09737
    Location:142546
    Det1; De-etiolated protein 1 Det1
  2. NM_001321594.1NP_001308523.1  DET1 homolog isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC013489
    Conserved Domains (1) summary
    pfam09737
    Location:108512
    Det1; De-etiolated protein 1 Det1
  3. NM_001321596.1NP_001308525.1  DET1 homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC013489
    Consensus CDS
    CCDS45344.1
    UniProtKB/Swiss-Prot
    Q7L5Y6
    UniProtKB/TrEMBL
    A0A024RC56
    Related
    ENSP00000497509.1, ENST00000649547.1
    Conserved Domains (1) summary
    pfam09737
    Location:142546
    Det1; De-etiolated protein 1 Det1
  4. NM_017996.4NP_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:153557
    Det1; De-etiolated protein 1 Det1

RNA

  1. NR_026645.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL707845, BC001242, BC064591
    Related
    ENST00000557837.1
  2. NR_135739.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL707845, BC073867
    Related
    ENST00000557842.6
  3. NR_135740.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AL707845, BC001242, BU856989
  4. NR_135741.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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