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FLASH GENE
Symbol DLL3 contributors: mct/pgu - updated : 27-09-2011
HGNC name delta-like 3 (Drosophila)
HGNC id 2909
Corresponding disease
SCDO1 spondylocostal dysostosis, type 1
Location 19q13.2      Physical location : 39.989.556 - 39.999.121
Synonym name delta-like 3 protein precursor
Synonym symbol(s) SCOD1
DNA
TYPE functioning gene
STRUCTURE 9.56 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • promoter contains multiple E-boxes, the consensus binding site for bHLH factors (each E-box has distinct characteristics relative to binding of bHLH factors ASCL1, NEUROG1, and NEUROG2)
  • MAPPING cloned Y linked N status provisional
    Physical map
    MRPS12 19q13.11 mitochondrial ribosomal protein S12 FBXO26 19q13.2 F-box only protein 26 FBXO27 19q13.2 F-box only protein 27 LOC390928 19 similar to RIKEN cDNA C330005M16 LOC284321 19q13.2 hypothetical LOC284321 PAK4 19q13.2 p21(CDKN1A)-activated kinase 4 LOC342897 19q13.2 similar to F-box only protein 2 SYCN 19q13.2 syncollin IL28B 19q13.13 interleukin 28B (interferon, lambda 3) LOC390929 19 similar to Methionine-R-sulfoxide reductase (Selenoprotein X 1) (HSPC270) IL28A 19q13.13 interleukin 28A (interferon, lambda 2) IL29 19q13.13 interleukin 29 (interferon, lambda 1) KIAA1484 GMFG 19p13.2-p12 glia maturation factor, gamma FLJ10211 19q13.2 hypothetical protein FLJ10211 PD2 19q13.1 hypothetical protein F23149_1 Intersex 19q13.2 homolog of Drosophila Intersex ZFP36 19q13.1 zinc finger protein 36, C3H type, homolog (mouse) CLG 19q13.2 likely ortholog of mouse common-site lymphoma/leukemia GEF RPS16 19q13.1 ribosomal protein S16 SUPT5H 19q13 suppressor of Ty 5 homolog (S. cerevisiae) TIMM50 19q13.2 translocase of inner mitochondrial membrane 50 homolog (yeast) DLL3 19q13.1-13.3 delta-like 3 (Drosophila) SELV 19q13.2 selenoprotein V FLJ38944 19q13.2 hypothetical protein FLJ38944 MGC20452 LOC390930 19 similar to Charot-Leyden crystal protein; Charcot-Leyden crystal protein; eosinophil lysophospholipase; lysolecithin acylhydrolase; galactin-10 PP13 19q13.1 placental protein 13 LOC390931 19 similar to placental protein 13-like protein LOC148003 19q13.2 similar to placental protein 13; galectin-13 LOC390932 19 similar to Eosinophil lysophospholipase (Charcot-Leyden crystal protein homolog) (Lysolecithin acylhydrolase) (CLC) (Galectin-10) PPL13 19q13.2 placental protein 13-like protein CLC 19q13.1 Charot-Leyden crystal protein LOC342900 19q13.2 hypothetical LOC342900 DYRK1B 19q12-q13.11 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B FBL 19q13.1 fibrillarin FCGBP 19q13.1 Fc fragment of IgG binding protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2359 - 618 - 2008 18676613
    9 - 2052 - 587 - 2008 18676613
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid    
    Nervousbrain     Homo sapiens
    Respiratorylung    
    Skeletonaxial skeleton    
    Skin/Tegumentskin    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • in presomitic mesoderm
  • expressed broadly in the developing nervous system as neural progenitor cells initiate differentiation
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six EGF-like domains
  • one DSL domain
  • one transmembrane domain
  • HOMOLOGY
    Homologene
    FAMILY
  • delta protein ligand family
  • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • predominantly in the Golgi apparatus
  • co-localization of DLL3 and NOTCH1 occurs only in cytoplasmic vesicles that are likely to be late endosomes and lysosomes
  • basic FUNCTION
  • playing a role in the formation of somite boundaries during segmentation of the paraxial mesoderm
  • may be required to divert neurons along a specific differentiation pathway
  • having potential physiological functions in the Golgi network
  • required for the correct spatio-temporal activation of NOTCH1 during somitogenesis
  • ligand of Notch, inhibiting receptor signaling, cannot activate signaling
  • may alter the trafficking of full-length NOTCH1 by sequestering it to late endosome/lysosomes, thereby preventing its S1 processing
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NOTCH receptor ligand
  • interaction with HUWE1 (ubiquitin ligase HUWE1 operates upstream of the MYCN-DLL3-NOTCH1 pathway to control neural stem cell activity and promote neurogenesis)
  • interacts with the unprocessed full-length form of NOTCH1 (NOTCH1 inhibition by DLL3 implicated in abnormal vertebral segmentation in spondylocostal dysostosis)
  • cell & other
    REGULATION
    Other a complex interplay of E-box binding proteins spatially and temporally regulate DLL3 levels during neural tube development
    ASSOCIATED DISORDERS
    corresponding disease(s) SCDO1
    Susceptibility to vertebral malformations
    Variant & Polymorphism other "G" to "A" missense mutation changing glycine to arginine at codon 269, may be associated to vertebral malformations
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • targeted deletion of Dll3 in the mouse causes a developmental defect in somite segmentation, and consequently vertebral formation is severely disrupted, closely resembling human SCD