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    DTX1 deltex E3 ubiquitin ligase 1 [ Homo sapiens (human) ]

    Gene ID: 1840, updated on 25-Aug-2016
    Official Symbol
    DTX1provided by HGNC
    Official Full Name
    deltex E3 ubiquitin ligase 1provided by HGNC
    Primary source
    HGNC:HGNC:3060
    See related
    Ensembl:ENSG00000135144 HPRD:03991; MIM:602582; Vega:OTTHUMG00000169610
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hDx-1
    Summary
    Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    12q24.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (113056711..113098028)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113494514..113535833)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inner mitochondrial membrane peptidase subunit 1 pseudogene 2 Neighboring gene ribosomal protein S15a pseudogene 32 Neighboring gene RAS protein activator like 1 Neighboring gene cilia and flagella associated protein 73 Neighboring gene microRNA 7106 Neighboring gene DEAD-box helicase 54 Neighboring gene RBPJ interacting and tubulin associated 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
      Presenilin action in Notch and Wnt signaling, organism-specific biosystem
      Presenilin action in Notch and Wnt signaling
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Notch binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Notch signaling pathway TAS
    Traceable Author Statement
    more info
     
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of Notch signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of nucleic acid-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    E3 ubiquitin-protein ligase DTX1
    Names
    deltex 1
    deltex 1, E3 ubiquitin ligase
    deltex homolog 1
    deltex1
    hDTX1
    protein deltex-1

    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_004416.2NP_004407.2  E3 ubiquitin-protein ligase DTX1

      See identical proteins and their annotated locations for NP_004407.2

      Status: REVIEWED

      Source sequence(s)
      AF053700, BC005816, BC048216
      Consensus CDS
      CCDS9164.1
      UniProtKB/Swiss-Prot
      Q86Y01
      Related
      ENSP00000257600, OTTHUMP00000241684, ENST00000257600, OTTHUMT00000405045
      Conserved Domains (3) summary
      smart00678
      Location:26102
      WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
      cd09633
      Location:480612
      Deltex_C; Domain found at the C-terminus of deltex-like
      cd00162
      Location:410473
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      113056711..113098028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538009.2XP_011536311.1  

      See identical proteins and their annotated locations for XP_011536311.1

      UniProtKB/Swiss-Prot
      Q86Y01
      Conserved Domains (3) summary
      smart00678
      Location:26102
      WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis
      cd09633
      Location:480612
      Deltex_C; Domain found at the C-terminus of deltex-like
      cd00162
      Location:410473
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      113463985..113504150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)