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FLASH GENE

Symbol

DLL1

contributors: mct - updated : 06-05-2016

HGNC name	delta-like 1 (Drosophila)
HGNC id	2908

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005618 11 - 3366 NP_005609 - 723 - 2008 18676613

EXPRESSION

Type

widely

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 Cardiovascular vessel         Digestive intestine large intestine colon   highly Hearing/Equilibrium ear       highly Reproductive male system testis       Respiratory respiratory tract trachea     highly Urinary kidney         Visual eye anterior segment     highly

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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