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Aliases for DTX1 Gene

Aliases for DTX1 Gene

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

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 Pthirus Pubis Infestation and Lice Infestation. Among its related pathways are Notch signaling pathway (KEGG) and Presenilin action in Notch and Wnt signaling. 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 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 , fRNAdb sequence ontologies and piRNA Summary for DTX1 Gene

Genomics for DTX1 Gene

Regulatory Elements for DTX1 Gene

Enhancers for DTX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G113086 1.6 FANTOM5 Ensembl ENCODE dbSUPER 23.3 +30.4 30443 2.0 BCOR CTCF HDGF ZMYM3 MAX EBF1 SCRT2 RELB IKZF2 CHD2 DTX1 CFAP73 RASAL1 GC12P113070
GH12G113098 1.5 Ensembl ENCODE dbSUPER 12.3 +41.9 41914 1.0 PKNOX1 SIN3A ZNF121 GLIS2 ELK1 ZNF143 FOS SP3 SP5 MXD4 DTX1 ENSG00000201208 DDX54 RITA1 RASAL1 GC12P113070
GH12G113082 0.9 ENCODE dbSUPER 19.2 +26.2 26161 1.1 TBP ZMYM3 EBF1 TBX21 CBX5 NBN RELB MLLT1 KDM1A EZH2 DTX1 CFAP73 GC12P113070 RASAL1
GH12G113092 1.3 Ensembl ENCODE dbSUPER 12.3 +36.8 36808 1.6 CTCF PKNOX1 KLF1 RB1 ZMYM3 RBBP5 RAD21 BCL11B ZNF239 ZNF143 DTX1 CFAP73 ENSG00000201208 DDX54 RITA1 RASAL1 GC12P113070
GH12G112976 1.3 FANTOM5 ENCODE 11.3 -77.6 -77629 5.1 HDGF ATF1 PKNOX1 WRNIP1 YY1 ZNF121 ZNF766 ZNF143 ZNF623 TBX21 OAS3 OAS2 DTX1 OAS1 SLC8B1 SDSL GC12M112972 GC12M112984
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DTX1 on UCSC Golden Path with GeneCards custom track

Promoters for DTX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000057568 191 601 CTCF MAZ MXI1 NR2F1 BACH1 NFXL1 GATAD2B RBBP5 DPF2 ZNF664

Genomic Location for DTX1 Gene

Chromosome:
12
Start:
113,056,709 bp from pter
End:
113,098,028 bp from pter
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

Protein Domains for DTX1 Gene

Suggested Antigen Peptide Sequences for DTX1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for DTX1 Gene

Function for DTX1 Gene

Molecular function for DTX1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
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 Induction:
Regulated by NOTCH2.

Enzyme Numbers (IUBMB) 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

Clone Products

  • Applied Biological Materials Clones 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 5
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm 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 from RNA polymerase II promoter 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

Unigene Clusters for DTX1 Gene

Deltex homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
DTX1

Expression for DTX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DTX1 Gene



Protein tissue co-expression partners for DTX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DTX1 Gene:

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(4.3)
genes like me logo Genes that share expression patterns with DTX1: view

Primer Products

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 34 35
  • 97.31 (n)
cow
(Bos Taurus)
Mammalia DTX1 34 35
  • 92.89 (n)
rat
(Rattus norvegicus)
Mammalia Dtx1 34
  • 88.55 (n)
mouse
(Mus musculus)
Mammalia Dtx1 34 16 35
  • 87.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DTX1 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DTX1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves DTX1 34 35
  • 80.34 (n)
lizard
(Anolis carolinensis)
Reptilia DTX1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dtx1 34
  • 68.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia dtx 34
zebrafish
(Danio rerio)
Actinopterygii DTX1 35
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dx 36 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7641 35
  • 30 (a)
OneToMany
Species where no ortholog for DTX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for DTX1 Gene

Paralogs for DTX1 Gene

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

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

Variants for DTX1 Gene

Sequence variations from dbSNP and Humsavar for DTX1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000119064 -- 113,069,922(+) TAGCA(A/G)TCCAG intron-variant
rs1000141086 -- 113,065,181(+) GGGCC(C/G)TTGGA intron-variant
rs1000290457 -- 113,071,275(+) CAGGG(A/G)CCCAG intron-variant
rs1000378221 -- 113,087,454(+) GGTGG(C/T)GGCAG intron-variant
rs1000390669 -- 113,059,053(+) ATTAA(C/T)TGGGG intron-variant

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)

Relevant External Links for DTX1 Gene

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

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

Disorders for DTX1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pthirus pubis infestation
  • crabs
lice infestation
  • infestation by pediculus
- elite association - COSMIC cancer census association via MalaCards
Search DTX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DTX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DTX1
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 M.A. (J. Biol. Chem. 2003) 2 3 4 22 64
  2. Role of Deltex-1 as a transcriptional regulator downstream of the Notch receptor. (PMID: 11564735) Yamamoto N. … Nakafuku M. (J. Biol. Chem. 2001) 3 4 22 64
  3. Human deltex is a conserved regulator of Notch signalling. (PMID: 9590294) Matsuno K. … Artavanis-Tsakonas S. (Nat. Genet. 1998) 2 3 4 64
  4. The translation initiation factor 3f (eIF3f) exhibits a deubiquitinase activity regulating Notch activation. (PMID: 21124883) Moretti J. … Brou C. (PLoS Biol. 2010) 3 4 64
  5. Deltex1 is a target of the transcription factor NFAT that promotes T cell anergy. (PMID: 19592273) Hsiao H.W. … Lai M.Z. (Immunity 2009) 3 22 64

Products for DTX1 Gene

Sources for DTX1 Gene

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