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FLASH GENE
Symbol DLL1 contributors: mct - updated : 06-05-2016
HGNC name delta-like 1 (Drosophila)
HGNC id 2908
Corresponding disease
DDABMV developmental delay, autism, brain malformation, vertebral segmentation defects
Location 6q27      Physical location : 170.591.295 - 170.599.697
Synonym name
  • delta-like 1 protein
  • H-Delta-1
  • Drosophila Delta homolog 1
    • Synonym symbol(s) DELTA1, DL1, Delta, Delta1
    DNA
    TYPE functioning gene
    STRUCTURE 8.40 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3366 - 723 - 2008 18676613
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Digestiveintestinelarge intestinecolon highly
    Hearing/Equilibriumear   highly
    Reproductivemale systemtestis   
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidney    
    Visualeyeanterior segment  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight EGF-like domains
  • one DSL domain
  • a Dll1 intracellular domain (Dll1 icd) that upregulates CTGF promoter activity through both direct and indirect mechanisms
    • HOMOLOGY
    Homologene
    FAMILY
  • delta/serrate/jagged family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text endogenous DLL1 located on the surface of presomitic mesoderm cells
    basic FUNCTION
  • playing a role in mediating cell fate decisions during hematopoiesis and in cell-to-cell communication
  • controls both differentiation of early myoblasts and maintenance of myogenic progenitor cells
  • provides essential signals that are required to prevent uncontrolled differentiation early and ensure sustained muscle differentiation during development
  • play dual roles as activators of Notch receptor signaling and as receptors that mediate nuclear signaling events via gamma-secretase-generated cytoplasmic domain
  • essential regulator of postnatal arteriogenesis (DLL1-mediated Notch activation regulates ephrin-B2 expression and postnatal arteriogenesis)
  • might function as a cis-acting regulatory element that induces undifferentiated cells to become goblet cells
  • DLL1- and DLL4-mediated notch signaling are required for homeostasis of intestinal stem cells
  • implicated in early patterning of the forebrain
  • DLL1 and JAG1 function redundantly and are necessary to maintain the centroacinar cells as an environmental niche in the developing pancreas
  • both NOTCH1 and its ligands DLL1 and JAG1 in B cells promote antibody production
  • importance of DLL1 in human brain development
  • oscillatory expression of DLL1 is essential for somite segmentation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NOTCH receptor ligand
  • implicated in activation of NOTCH (ubiquitination, although not required for endocytosis, is essential for DLL1 recycling and that recycling is required to acquire affinity for the receptor)
  • acting with JAG2 synergistically to regulate hair cell development in the mammalian inner ear
  • interacts with FGF signaling pathway
  • interacting with CTGF (indirect upregulation of CTGF expression by DLL1 is likely due to the ability of Dll1icd to increase Wnt signaling, a pathway that targets CTGF
  • PTF1A-induced DLL1 expression stimulates multipotent pancreatic progenitor cells (MPCs) proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels
  • SYNJ2BP, also known as ARIP2 interacted with the PDZ binding motif of DLL1 and DLL4, but not with the Notch ligand JAG1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDABMV
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in adult Down syndrome cortex
    constitutional   deletion    
    in holoprosencephaly
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dll1 haploinsufficient mice is smaller with altered fat tissue and lean mass ratio, higher energy uptake and metabolized energy, probably due to hyperactivity