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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DTX1 Gene

protein-coding   GIFtS: 58
GCID: GC12P113495

Deltex Homolog 1 (Drosophila)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Deltex Homolog 1 (Drosophila)1 2     E3 Ubiquitin-Protein Ligase DTX12
Protein Deltex-12 3     hDx-12
hDTX12 3     Deltex13
deltex12     EC 6.3.2.-3

External Ids:    HGNC: 30601   Entrez Gene: 18402   Ensembl: ENSG000001351447   OMIM: 6025825   UniProtKB: Q86Y013   

Export aliases for DTX1 gene to outside databases

Previous GC identifers: GC12P112390 GC12P113014 GC12P113278 GC12P111907 GC12P111958 GC12P110508


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with DTX1 include noonan syndrome, and osteosarcoma, and among its related super-pathways are Notch signaling pathway and Disease. GO annotations related to this gene include transcription coactivator activity and SH3 domain binding. An important paralog of this gene is DTX4.

UniProtKB/Swiss-Prot: DTX1_HUMAN, Q86Y01
Function: Functions as an 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009775.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DTX1 gene promoter:
         Max1   AhR   Sox5   p53   AML1a   RORalpha2   Arnt   Ik-2   Sox9   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DTX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DTX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DTX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.13   Ensembl cytogenetic band:  12q24.13   HGNC cytogenetic band: 12q24

DTX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DTX1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P113495:  view genomic region     (about GC identifiers)

Start:
113,494,514 bp from pter      End:
113,535,833 bp from pter
Size:
41,320 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DTX1_HUMAN, Q86Y01 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase DTX1  
Size: 620 amino acids; 67368 Da
Subunit: Homodimer. May form a heterodimer with other members of the Deltex family. Interacts with NOTCH1 via its
N-terminus 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
Subcellular location: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Associates with endocytic vesicles.
Partially nuclear
Secondary accessions: O60630 Q9BS04

Explore the universe of human proteins at neXtProt for DTX1: NX_Q86Y01

Explore proteomics data for DTX1 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated; undergoes 'Lys-29'-linked polyubiquitination catalyzed by ITCH
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86Y01

  • DTX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DTX1 Protein Expression
    REFSEQ proteins: NP_004407.2  
    ENSEMBL proteins: 
     ENSP00000257600  
    Reactome Protein details: Q86Y01
    Human Recombinant Protein Products for DTX1: 
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    Novus Biologicals DTX1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DTX1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm TAS9590294
    GO:0005829cytosol TAS--

    DTX1 for ontologies           About GeneDecksing



    DTX1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for DTX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001841 Znf_RING
     IPR004170 WWE-dom
     IPR018123 WWE-dom_subgr
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q86Y01

    ProtoNet protein and cluster: Q86Y01

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: DTX1_HUMAN, Q86Y01
    Domain: The WWE domains are thought to mediate some protein-protein interaction, and are frequently found in
    ubiquitin ligases (By similarity)
    Similarity: Belongs to the Deltex family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 2 WWE domains


    DTX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DTX1_HUMAN, Q86Y01
    Function: Functions as an 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
    Induction: Regulated by NOTCH2

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity TAS9590294
    GO:0005112Notch binding IDA11564735
    GO:0005515protein binding IPI17028573
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
         
    DTX1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DTX1:
     Big cells 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Dtx1):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     normal  renal/urinary system  respiratory system 

    DTX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DTX1: Dtx1tm1Crey Dtx1tm1.2Mzl Dtx1tm1Mjb

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DTX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DTX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DTX1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DTX1 

    miRNA
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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate DTX1 (see all 32):
    hsa-miR-194* hsa-miR-219-1-3p hsa-miR-1321 hsa-miR-765 hsa-miR-128 hsa-miR-1276 hsa-miR-629* hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidDTX1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    GenScript: all cDNA clones in your preferred vector: DTX1 (NM_004416)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DTX1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DTX1 About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 HD Domain Mutants in Cancer
    Signaling by NOTCH1 HD Domain Mutants in Cancer1.00
    FBXW7 Mutants and NOTCH1 in Cancer1.00
    Signaling by NOTCH1.00
    Disease1.00
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer1.00
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant1.00
    Signaling by NOTCH1 in Cancer1.00
    Signaling by NOTCH11.00
    3Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH0.74
    4NOTCH2 intracellular domain regulates transcription
    Activated NOTCH1 Transmits Signal to the Nucleus0.59
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for DTX1
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Presenilin action in Notch and Wnt signaling
    Notch signaling pathway

    5/22        Reactome Pathways for DTX1 (see all 22)
        FBXW7 Mutants and NOTCH1 in Cancer
    Signaling by NOTCH
    Signaling by NOTCH1 HD Domain Mutants in Cancer
    Signaling by NOTCH1 in Cancer
    Disease


    1         Kegg Pathway  (Kegg details for DTX1):
        Notch signaling pathway

    UniProtKB/Swiss-Prot: DTX1_HUMAN, Q86Y01
    Pathway: Protein modification; protein ubiquitination


    DTX1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DTX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/36 Interacting proteins for DTX1 (Q86Y012, 3 ENSP000002576004) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITCHQ96J022, 3, ENSP000003639984MINT-3381104 MINT-3381037 I2D: score=2 STRING: ENSP00000363998
    UBCP0CG482, 3, ENSP000003448184MINT-3381152 MINT-3381175 I2D: score=1 STRING: ENSP00000344818
    CRKP461083, ENSP000003005744I2D: score=2 STRING: ENSP00000300574
    UBE2D2P628373, ENSP000003817174I2D: score=2 STRING: ENSP00000381717
    UBE2D3P610773, ENSP000003497224I2D: score=2 STRING: ENSP00000349722
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent NAS11564735
    GO:0006366transcription from RNA polymerase II promoter TAS9590294
    GO:0007166cell surface receptor signaling pathway TAS9590294
    GO:0007219Notch signaling pathway TAS--
    GO:0008593regulation of Notch signaling pathway IGI11564735

    DTX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DTX1

    Search CenterWatch for drugs/clinical trials and news about DTX1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DTX1 gene: 
    NM_004416.2  

    Unigene Cluster for DTX1:

    Deltex homolog 1 (Drosophila)
    Hs.372152  [show with all ESTs]
    Unigene Representative Sequence: NM_004416
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548759 ENST00000257600(uc001tuk.1) ENST00000547974 ENST00000553140
    ENST00000547730
    miRNA
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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate DTX1 (see all 32):
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    SwitchGear 3'UTR luciferase reporter plasmidDTX1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DTX1

    Additional mRNA sequence: 

    AF053700.1 BC005816.2 BC008321.1 BC048216.1 

    6 DOTS entries:

    DT.411502  DT.409220  DT.92420400  DT.40191795  DT.86855175  DT.92420401 

    24/87 AceView cDNA sequences (see all 87):

    BX281251 AW291600 AA810980 BU726168 BQ061257 BQ057477 AW408513 AW408836 
    BC005816 CR620865 NM_004416 AA721092 BE396937 BM690009 BM464695 BG546217 
    BC008321 BI837442 AW403335 BG757235 BU189608 BX350250 N62052 AI623352 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DTX1 expression in normal human tissues (normalized intensities)      DTX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTGGAAGC
    DTX1 Expression
    About this image


    DTX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Eye (Sensory Organs)
             Retina
     
     Lymph (Hematopoietic System)
             LYMPH NODE   

    See DTX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DTX1

    SOURCE GeneReport for Unigene cluster: Hs.372152

    UniProtKB/Swiss-Prot: DTX1_HUMAN, Q86Y01
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including DTX1: 
              Notch Signaling Targets in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DTX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DTX1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DTX1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dtx11 , 5 deltex 1 homolog (Drosophila)1, 5 88.66(n)1
    96.94(a)1
      5 (60.64 cM)5
    143571  NM_008052.31  NP_032078.21 
     1206802025 
    chicken
    (Gallus gallus)
    Aves DTX11 deltex homolog 1 (Drosophila) 80.8(n)
    84.49(a)
      770657  XM_001233993.2  XP_001233994.2 
    lizard
    (Anolis carolinensis)
    Reptilia DTX16
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343338.1(729223-752994)
    African clawed frog
    (Xenopus laevis)
    Amphibia dtx2 hypothetical protein 74.7(n)    AJ431211.1 
    zebrafish
    (Danio rerio)
    Actinopterygii DTX16
    deltex homolog 1 (Drosophila)
    77(a)
    1 ↔ 1
    Zv9_NA771(12736-43326)
    fruit fly
    (Drosophila melanogaster)
    Insecta dx3 N receptor signaling pathway SH3-domain
    binding
    42(a)     --


    ENSEMBL Gene Tree for DTX1 (if available)
    TreeFam Gene Tree for DTX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DTX1 gene
    DTX42  DTX3L2  DTX32  DTX22  
    2 SIMAP similar genes for DTX1 using alignment to 1 protein entry:     DTX1_HUMAN:
    DTX4    DTX2

    DTX1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/892 SNPs in DTX1 are shown (see all 892)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1177412381,2
    F--113493692(+) CCCCCC/GTCCCA 1 -- us2k11Minor allele frequency- G:0.07NA 120
    rs1924950941,2
    --113493734(+) CTGGAA/GGACAG 1 -- us2k10--------
    rs1839278221,2
    --113493846(+) CAGGTG/TGCTGT 1 -- us2k10--------
    rs73065761,2
    C,F--113493916(+) GTCCCC/TTCCCC 1 -- us2k1 tfbs3 trp38Minor allele frequency- T:0.07WA CSA NA EA 367
    rs1444601741,2
    --113494010(+) TCAGAC/TCGGGG 1 -- us2k10--------
    rs734277181,2
    C,F--113494012(+) AGATCG/AGGGTT 1 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1859014691,2
    --113494044(+) GCTTTC/TGTGAT 1 -- us2k10--------
    rs22547701,2
    C,F,H--113494323(-) GTCACC/GGGCTT 1 -- us2k117Minor allele frequency- G:0.19NS EA NA 2222
    rs1395474881,2
    C--113494610(+) GGAAA-/TTTC  
            
    GCTCG
    1 -- us2k10--------
    rs1898010141,2
    --113494759(+) GAACGA/CGGGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DTX1 (113494514 - 113535833 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for DTX1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv899527CNV Loss21882294
    dgv1493n71CNV Loss21882294
    nsv899528CNV Loss21882294
    nsv899525CNV Loss21882294
    nsv519540CNV Gain+Loss19592680
    esv259551OTHER Complex20981092
    esv260035OTHER Complex20981092

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602582    OMIM disorders: --

    3 diseases for DTX1:    About MalaCards
    noonan syndrome    osteosarcoma    neuronitis


    DTX1 for disorders           About GeneDecksing


    Export disorders for DTX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DTX1 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with DTX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human deltex is a conserved regulator of Notch signalling. (PubMed id 9590294)1, 2, 3 Matsuno K.... Artavanis-Tsakonas S. (1998)
    2. Role of Deltex-1 as a transcriptional regulator downstream of the Notch receptor. (PubMed id 11564735)1, 2, 9 Yamamoto N....Nakafuku M. (2001)
    3. The BAL-binding protein BBAP and related Deltex family members exhibit ubiquitin-protein isopeptide ligase activity. (PubMed id 12670957)1, 2, 9 Takeyama K.... Shipp M.A. (2003)
    4. The translation initiation factor 3f (eIF3f) exhibits a deubiquitinase activity regulating Notch activation. (PubMed id 21124883)1, 2 Moretti J....Brou C. (2010)
    5. Itch/AIP4 mediates Deltex degradation through the formation of K29-linked polyubiquitin chains. (PubMed id 17028573)1, 2 Chastagner P....Brou C. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Notch2 is preferentially expressed in mature B cells and indispensable for marginal zone B lineage development. (PubMed id 12753744)1, 2 Saito T.... Hirai H. (2003)
    8. Deltex1 redirects lymphoid progenitors to the B cell lineage by antagonizing Notch1. (PubMed id 11869684)1, 2 Izon D.J.... Pear W.S. (2002)
    9. Deltex1 is a target of the transcription factor NFAT that promotes T cell anergy. (PubMed id 19592273)1, 9 Hsiao H.W....Lai M.Z. (2009)
    10. New partner proteins containing novel internal recogni tion motif for human glutaminase interacting protein (hGIP). (PubMed id 23395680)1 Zencir S....Mohanty S. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1840 HGNC: 3060 AceView: DTX1 Ensembl:ENSG00000135144 euGenes: HUgn1840
    ECgene: DTX1 Kegg: 1840 H-InvDB: DTX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DTX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DTX1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DTX1 gene:
    Search GeneIP for patents involving DTX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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