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FLASH GENE
Symbol DTX1 contributors: mct/npt - updated : 07-05-2008
HGNC name deltex homolog 1 (Drosophila)
HGNC id 3060
Location 12q24.13      Physical location : 113.495.661 - 113.535.833
Synonym name protein deltex-1
Synonym symbol(s) hDx-1, Deltex1
DNA
TYPE functioning gene
STRUCTURE 40.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned N linked N status provisional
Map cen - D12S330 - D12S1613 - D12S84 - D12S105 - D12S1838 - D12S1888 - DTX1 - D12S1863 - D12S1884 - D12S129 - D12S1341 - D12S354 - D12S369 - qter
Authors Lee (00)
regionally located Noonan syndrome critical region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 3317 67.4 620 - Matsuno, Takeyama (2003)
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunelymph node   highly
 tonsils   highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text blood vessels, nervous system, pancreas, lung, digestive tube, muscles
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three WWE domains separated by glutamine-rich sequences at the N-terminus
  • domain 1 binding to NOTCH
  • domain 2, intermediate, containing a putative SH3 binding domain
  • C terminal domain 3 containing a RING-H2 zinc finger motif
  • HOMOLOGY
    interspecies homolog to Drosophila Deltex 1
    Homologene
    FAMILY
  • deltex family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • cytosolic effector of Notch signaling thought to bind through its N-terminal domain to the Notch receptor
  • may playing a role in marginal zone B (MZB) cell differentiation
  • function as E3 ligases based on its capacity for self-ubiquitination (Takeyama 2003)
  • can act as a negative regulator of Notch signals in T cells but that endogenous levels of DTX1 and DTX2 are not important for regulating Notch signals during thymocyte development
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NOTCH (binding the ankyrin repeat of)
  • BRB2 (SH3-domain containing protein)
  • cell & other
    REGULATION
    activated by in T-cell progenitors can block Notch signals, suggesting that Deltex1 may play an important role in regulating Notch signals during T-cell development
    induced by highly induced by Notch signaling in thymocytes
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for Noonan syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS