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] See more...

Aliases for DTX1 Gene

Aliases for DTX1 Gene

  • Deltex E3 Ubiquitin Ligase 1 2 3 5
  • RING-Type E3 Ubiquitin Transferase DTX1 3 4
  • E3 Ubiquitin-Protein Ligase DTX1 3 4
  • Protein Deltex-1 3 4
  • Deltex1 3 4
  • RNF140 2 3
  • HDx-1 2 3
  • HDTX1 3 4
  • Deltex Homolog 1 (Drosophila) 2
  • Deltex 1, E3 Ubiquitin Ligase 3
  • Deltex Homolog 1 3
  • EC 2.3.2.27 4
  • DTX1 5

External Ids for DTX1 Gene

Previous GeneCards Identifiers for DTX1 Gene

  • GC12P112390
  • GC12P113014
  • GC12P113278
  • GC12P111907
  • GC12P111958
  • GC12P113495
  • GC12P110508

Summaries for DTX1 Gene

Entrez Gene Summary for DTX1 Gene

  • 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]

GeneCards Summary for DTX1 Gene

DTX1 (Deltex E3 Ubiquitin Ligase 1) is a Protein Coding gene. Diseases associated with DTX1 include Familial Pityriasis Rubra Pilaris and Pityriasis Rubra Pilaris. Among its related pathways are Signaling by GPCR and Notch Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is DTX4.

UniProtKB/Swiss-Prot Summary for DTX1 Gene

  • Functions as a ubiquitin ligase protein in vivo, mediating ubiquitination and promoting degradation of MEKK1, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (By similarity). Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Mainly acts as a positive regulator of Notch, but it also acts as a negative regulator, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Involved in neurogenesis, lymphogenesis and myogenesis, and may also be involved in MZB (Marginal zone B) cell differentiation. Promotes B-cell development at the expense of T-cell development, suggesting that it can antagonize NOTCH1.

Gene Wiki entry for DTX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DTX1 Gene

Genomics for DTX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DTX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J113056 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.4 423 2.1 BACH1 LARP7 POLR2A ZNF341 RAD21 UBTF DPF2 GATAD2B ZBTB26 NFXL1 DTX1 lnc-DTX1-1 OAS3 piR-43104-010 RASAL1
GH12J113086 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 23.3 +30.4 30443 2 SP1 KDM1A IKZF2 SCRT2 RELB RUNX3 GATAD2B TCF12 ZNF623 BCL11A DTX1 CFAP73 RASAL1 RF00017-1283 piR-43104-010
GH12J112976 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 11.3 -77.6 -77628 5.1 REST KDM1A POLR2A ZNF143 RELA SMAD5 IKZF2 RCOR1 SP1 TRIM22 OAS2 OAS3 DTX1 OAS1 SLC8B1 SDSL ENSG00000257452 IMMP1LP2
GH12J113097 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 +41.7 41691 2 CEBPG CREB1 CTCF PRDM10 ZNF629 TFE3 RFX1 RFX5 KDM1A TARDBP DTX1 ENSG00000201208 DDX54 RITA1 RASAL1 RF00017-1283 piR-43104-010
GH12J113082 Enhancer 0.9 Ensembl ENCODE dbSUPER 19.3 +26.1 26102 1.2 RELB RUNX3 NBN TBP TBX21 ATF7 ZNF217 ZNF687 MLLT1 ZBTB33 DTX1 CFAP73 piR-43104-010 RF00017-1283 RASAL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DTX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DTX1

Top Transcription factor binding sites by QIAGEN in the DTX1 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • c-Myc
  • Ik-2
  • Max1
  • p53
  • RORalpha2
  • Sox5
  • Sox9

Genomic Locations for DTX1 Gene

Genomic Locations for DTX1 Gene
chr12:113,056,709-113,098,028
(GRCh38/hg38)
Size:
41,320 bases
Orientation:
Plus strand
chr12:113,494,514-113,535,833
(GRCh37/hg19)
Size:
41,320 bases
Orientation:
Plus strand

Genomic View for DTX1 Gene

Genes around DTX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DTX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DTX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DTX1 Gene

Proteins for DTX1 Gene

  • Protein details for DTX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y01-DTX1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase DTX1
    Protein Accession:
    Q86Y01
    Secondary Accessions:
    • O60630
    • Q9BS04

    Protein attributes for DTX1 Gene

    Size:
    620 amino acids
    Molecular mass:
    67368 Da
    Quaternary structure:
    • Homodimer. May form a heterodimer with other members of the Deltex family. Interacts with NOTCH1 via its N-terminal region and EIF3F, the interaction is required for NOTCH1 deubiquitination. Interacts with EP300. Forms a heterodimer with BBAP; the heterodimerization leading to an increase of in vitro ubiquitin ligase activity. Interacts with ITCH.

neXtProt entry for DTX1 Gene

Post-translational modifications for DTX1 Gene

  • Ubiquitinated; undergoes 'Lys-29'-linked polyubiquitination catalyzed by ITCH.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DTX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DTX1 Gene

Domains & Families for DTX1 Gene

Gene Families for DTX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DTX1 Gene

Suggested Antigen Peptide Sequences for DTX1 Gene

GenScript: Design optimal peptide antigens:
  • Protein deltex-1 (DTX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86Y01

UniProtKB/Swiss-Prot:

DTX1_HUMAN :
  • The WWE domains are thought to mediate some protein-protein interaction, and are frequently found in ubiquitin ligases.
  • Belongs to the Deltex family.
Domain:
  • The WWE domains are thought to mediate some protein-protein interaction, and are frequently found in ubiquitin ligases.
Family:
  • Belongs to the Deltex family.
genes like me logo Genes that share domains with DTX1: view

Function for DTX1 Gene

Molecular function for DTX1 Gene

UniProtKB/Swiss-Prot Function:
Functions as a ubiquitin ligase protein in vivo, mediating ubiquitination and promoting degradation of MEKK1, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (By similarity). Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Mainly acts as a positive regulator of Notch, but it also acts as a negative regulator, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Involved in neurogenesis, lymphogenesis and myogenesis, and may also be involved in MZB (Marginal zone B) cell differentiation. Promotes B-cell development at the expense of T-cell development, suggesting that it can antagonize NOTCH1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000250|UniProtKB:Q61010};.
UniProtKB/Swiss-Prot Induction:
Regulated by NOTCH2.

Enzyme Numbers (IUBMB) for DTX1 Gene

Phenotypes From GWAS Catalog for DTX1 Gene

Gene Ontology (GO) - Molecular Function for DTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity TAS 9590294
GO:0005112 Notch binding IDA 11564735
GO:0005515 protein binding IPI 7671825
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with DTX1: view
genes like me logo Genes that share phenotypes with DTX1: view

Animal Models for DTX1 Gene

MGI Knock Outs for DTX1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTX1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DTX1 Gene

Localization for DTX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DTX1 Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Associates with endocytic vesicles. Partially nuclear.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DTX1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IBA,IDA --
GO:0005737 cytoplasm TAS 9590294
GO:0005829 cytosol TAS --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with DTX1: view

Pathways & Interactions for DTX1 Gene

genes like me logo Genes that share pathways with DTX1: view

Pathways by source for DTX1 Gene

UniProtKB/Swiss-Prot Q86Y01-DTX1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for DTX1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated NAS 11564735
GO:0006366 transcription by RNA polymerase II TAS 9590294
GO:0007166 cell surface receptor signaling pathway TAS 9590294
GO:0007219 Notch signaling pathway TAS --
GO:0008593 regulation of Notch signaling pathway IGI 11564735
genes like me logo Genes that share ontologies with DTX1: view

Drugs & Compounds for DTX1 Gene

No Compound Related Data Available

Transcripts for DTX1 Gene

mRNA/cDNA for DTX1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTX1

Alternative Splicing Database (ASD) splice patterns (SP) for DTX1 Gene

No ASD Table

Relevant External Links for DTX1 Gene

GeneLoc Exon Structure for
DTX1

Expression for DTX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DTX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DTX1 Gene

This gene is overexpressed in Pancreatic juice (64.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DTX1 Gene



Protein tissue co-expression partners for DTX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DTX1

SOURCE GeneReport for Unigene cluster for DTX1 Gene:

Hs.372152

mRNA Expression by UniProt/SwissProt for DTX1 Gene:

Q86Y01-DTX1_HUMAN
Tissue specificity: Widely expressed. Strongly expressed in blood vessel. Also expressed in embryonic nervous system, pancreas, lung, adrenal gland, digestive tube and muscles. Expressed in MZB cells and developing B- and T-cells.

Evidence on tissue expression from TISSUES for DTX1 Gene

  • Nervous system(4.5)
  • Spleen(2.4)
  • Lymph node(2.4)
  • Intestine(2.3)
  • Kidney(2.1)
  • Liver(2.1)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with DTX1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DTX1 Gene

Orthologs for DTX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DTX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DTX1 30 31
  • 97.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DTX1 30 31
  • 92.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dtx1 30
  • 88.55 (n)
Mouse
(Mus musculus)
Mammalia Dtx1 30 17 31
  • 87.8 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DTX1 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DTX1 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DTX1 30 31
  • 80.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DTX1 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dtx1 30
  • 68.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia dtx 30
Zebrafish
(Danio rerio)
Actinopterygii DTX1 31
  • 78 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta dx 31 32
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7641 31
  • 30 (a)
OneToMany
Species where no ortholog for DTX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DTX1 Gene

ENSEMBL:
Gene Tree for DTX1 (if available)
TreeFam:
Gene Tree for DTX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DTX1: view image

Paralogs for DTX1 Gene

Paralogs for DTX1 Gene

(2) SIMAP similar genes for DTX1 Gene using alignment to 1 proteins:

  • DTX1_HUMAN
genes like me logo Genes that share paralogs with DTX1: view

Variants for DTX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DTX1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
768587 Benign: not provided 113,077,467(+) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DTX1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DTX1 Gene

Variant ID Type Subtype PubMed ID
dgv913e59 CNV tandem duplication 20981092
esv3384765 CNV duplication 20981092
esv3630792 CNV gain 21293372
nsv1120268 CNV tandem duplication 24896259
nsv476555 CNV novel sequence insertion 20440878
nsv519540 CNV gain+loss 19592680
nsv560264 CNV loss 21841781
nsv560265 CNV loss 21841781
nsv560266 CNV loss 21841781

Variation tolerance for DTX1 Gene

Residual Variation Intolerance Score: 5.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DTX1 Gene

Human Gene Mutation Database (HGMD)
DTX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DTX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DTX1 Gene

Disorders for DTX1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DTX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
familial pityriasis rubra pilaris
  • familial prp
pityriasis rubra pilaris
  • prp
lung cancer
  • adenocarcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search DTX1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with DTX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DTX1 Gene

Publications for DTX1 Gene

  1. The BAL-binding protein BBAP and related Deltex family members exhibit ubiquitin-protein isopeptide ligase activity. (PMID: 12670957) Takeyama K … Shipp MA (The Journal of biological chemistry 2003) 2 3 4 23
  2. Role of Deltex-1 as a transcriptional regulator downstream of the Notch receptor. (PMID: 11564735) Yamamoto N … Nakafuku M (The Journal of biological chemistry 2001) 3 4 23
  3. Human deltex is a conserved regulator of Notch signalling. (PMID: 9590294) Matsuno K … Artavanis-Tsakonas S (Nature genetics 1998) 2 3 4
  4. The translation initiation factor 3f (eIF3f) exhibits a deubiquitinase activity regulating Notch activation. (PMID: 21124883) Moretti J … Brou C (PLoS biology 2010) 3 4
  5. Deltex1 is a target of the transcription factor NFAT that promotes T cell anergy. (PMID: 19592273) Hsiao HW … Lai MZ (Immunity 2009) 3 23

Products for DTX1 Gene

  • Addgene plasmids for DTX1
  • Signalway ELISA kits for DTX1
  • Signalway Proteins for DTX1

Sources for DTX1 Gene