Format

Send to:

Choose Destination

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

Gene ID: 1840, updated on 4-Nov-2018

Summary

Official Symbol
DTX1provided by HGNC
Official Full Name
deltex E3 ubiquitin ligase 1provided by HGNC
Primary source
HGNC:HGNC:3060
See related
Ensembl:ENSG00000135144 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; RNF140
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]
Expression
Broad expression in lymph node (RPKM 13.1), spleen (RPKM 9.7) and 18 other tissues See more
Orthologs

Genomic context

See DTX1 in Genome Data Viewer
Location:
12q24.13
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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. ...
  • 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 WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
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 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
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 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of Notch signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
transcription by RNA polymerase II 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 IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase DTX1
Names
RING-type E3 ubiquitin transferase DTX1
deltex 1, E3 ubiquitin ligase
deltex homolog 1
deltex1
hDTX1
protein deltex-1
NP_004407.2
XP_011536311.1

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_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
    ENSP00000257600.3, OTTHUMP00000241684, ENST00000257600.3, 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
    cd16671
    Location:408476
    RING-H2_DTX1_4; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase deltex1 (DTX1), deltex4 (DTX4), and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011538009.2XP_011536311.1  E3 ubiquitin-protein ligase DTX1 isoform X1

    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
    cd16671
    Location:408476
    RING-H2_DTX1_4; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase deltex1 (DTX1), deltex4 (DTX4), and similar proteins
Support Center