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    DTX3L deltex E3 ubiquitin ligase 3L [ Homo sapiens (human) ]

    Gene ID: 151636, updated on 2-Nov-2024

    Summary

    Official Symbol
    DTX3Lprovided by HGNC
    Official Full Name
    deltex E3 ubiquitin ligase 3Lprovided by HGNC
    Primary source
    HGNC:HGNC:30323
    See related
    Ensembl:ENSG00000163840 MIM:613143; AllianceGenome:HGNC:30323
    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
    BBAP; RNF143
    Summary
    Enables several functions, including STAT family protein binding activity; histone H4K91 ubiquitin ligase activity; and protein ADP-ribosyltransferase-substrate adaptor activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of protein localization; and protein ubiquitination. Located in several cellular components, including early endosome; lysosome; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in appendix (RPKM 14.2), spleen (RPKM 13.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DTX3L in Genome Data Viewer
    Location:
    3q21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (122564338..122575203)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (125283584..125294443)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122283185..122294050)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984000 Neighboring gene uncharacterized LOC105374071 Neighboring gene Sharpr-MPRA regulatory region 13157 Neighboring gene poly(ADP-ribose) polymerase family member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14643 Neighboring gene poly(ADP-ribose) polymerase family member 15 Neighboring gene poly(ADP-ribose) polymerase family member 14 pseudogene Neighboring gene uncharacterized LOC124909419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20380 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:122353940-122355139 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A mega-analysis of genome-wide association studies for major depressive disorder.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables STAT family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables histone H4K91 ubiquitin ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone ubiquitin ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein ADP-ribosyltransferase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-like protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA repair-dependent chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of chromatin binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of defense response to virus by host IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to early endosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to nucleus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of receptor catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autoubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase DTX3L
    Names
    B-lymphoma- and BAL-associated protein
    RING-type E3 ubiquitin transferase DTX3L
    deltex 3 like, E3 ubiquitin ligase
    deltex 3-like
    rhysin-2
    rhysin2
    NP_612144.1

    NCBI Reference Sequences (RefSeq)

    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_138287.3NP_612144.1  E3 ubiquitin-protein ligase DTX3L

      See identical proteins and their annotated locations for NP_612144.1

      Status: VALIDATED

      Source sequence(s)
      AC092908
      Consensus CDS
      CCDS3015.1
      UniProtKB/Swiss-Prot
      B3KWH6, Q53ZZ3, Q5MJP7, Q8TDB6
      Related
      ENSP00000296161.4, ENST00000296161.9
      Conserved Domains (3) summary
      cd09633
      Location:608738
      Deltex_C; Domain found at the C-terminus of deltex-like
      cd12300
      Location:886
      RRM1_PAR14; RNA recognition motif 1 in vertebrate poly [ADP-ribose] polymerase 14 (PARP-14)
      cd16712
      Location:560600
      RING-HC_DTX3L; RING finger, HC subclass, found in protein Deltex-3-like (DTX3L) and similar proteins

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      122564338..122575203
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      125283584..125294443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)