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FLASH GENE

Symbol

DLL3

contributors: mct/pgu - updated : 27-09-2011

HGNC name	delta-like 3 (Drosophila)
HGNC id	2909

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016941 8 - 2359 NP_058637 - 618 - 2008 18676613 NM_203486 9 - 2052 NP_982353 - 587 - 2008 18676613

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid         Nervous brain         Homo sapiens Respiratory lung         Skeleton axial skeleton         Skin/Tegument skin         Visual eye

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