Delta-like 1

Delta-like protein 1 is a protein that in humans is encoded by the DLL1 gene.^[5]

DLL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4XBM
Identifiers
Aliases	DLL1, DELTA1, DL1, Delta, Delta-like 1, delta like canonical Notch ligand 1, NEDBAS
External IDs	OMIM: 606582; MGI: 104659; HomoloGene: 4104; GeneCards: DLL1; OMA:DLL1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q27 Start 170,282,206 bp[1] End 170,306,565 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A2|17 8.95 cM Start 15,587,616 bp[2] End 15,597,134 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen ventricular zone skin of abdomen skin of leg prostate apex of heart mucosa of esophagus vagina right auricle of heart minor salivary glands Top expressed in paraxial mesoderm tail of embryo ventricular zone primitive streak ciliary body tongue muscle corneal stroma ganglionic eminence medial ganglionic eminence right lung More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding scaffold protein binding Tat protein binding Notch binding protein binding Cellular component integral component of membrane membrane adherens junction plasma membrane integral component of plasma membrane extracellular region cell junction apical plasma membrane membrane raft cytoplasmic vesicle Biological process Notch signaling pathway somitogenesis negative regulation of interleukin-10 production proximal/distal pattern formation cell differentiation negative regulation of myoblast differentiation organ growth regulation of somitogenesis regulation of cell division negative regulation of neuron differentiation loop of Henle development negative regulation of inner ear auditory receptor cell differentiation astrocyte development somite specification negative regulation of glial cell apoptotic process negative regulation of cell differentiation neuron fate specification endothelial tip cell fate specification cell-cell signaling regulation of skeletal muscle tissue growth marginal zone B cell differentiation skeletal muscle tissue growth lateral inhibition regulation of vascular endothelial growth factor signaling pathway neuronal stem cell population maintenance positive regulation of sprouting angiogenesis regulation of blood pressure heart looping cerebellar molecular layer formation cell communication positive regulation of endocytosis retina morphogenesis in camera-type eye proximal tubule development negative regulation of epidermal cell differentiation clathrin-dependent endocytosis determination of left/right symmetry regulation of cell adhesion cerebellar Purkinje cell layer structural organization compartment pattern specification positive regulation of gene expression retina development in camera-type eye skin epidermis development positive regulation of cell population proliferation nephron development spinal cord development cell fate determination inner ear development multicellular organism development regulation of growth Notch signaling pathway involved in arterial endothelial cell fate commitment type B pancreatic cell development negative regulation of epithelial cell differentiation negative regulation of myeloid cell differentiation positive regulation of skeletal muscle tissue growth regulation of neurogenesis left/right axis specification positive regulation of Notch signaling pathway negative regulation of cell population proliferation positive regulation of transcription by RNA polymerase II negative regulation of cardiac muscle cell differentiation hemopoiesis energy homeostasis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 28514 13388 Ensembl ENSG00000275555 ENSG00000198719 ENSMUSG00000014773 UniProt O00548 Q61483 RefSeq (mRNA) NM_005618 NM_007865 NM_001379042 RefSeq (protein) NP_005609 NP_031891 NP_001365971 Location (UCSC) Chr 6: 170.28 – 170.31 Mb Chr 17: 15.59 – 15.6 Mb PubMed search [3] [4]
Wikidata
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Function

DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication.^[5]

Summary

DLL1 (Delta-like canonical Notch ligand 1) is a transmembrane protein that serves as a ligand in the Notch signaling pathway, which is crucial for cell fate determination during embryonic development. DLL1 is essential for the formation of somites, the segmented precursors to the vertebral column and skeletal muscles. In mouse models, the absence of DLL1 leads to disrupted somite formation and embryonic lethality, highlighting its vital role in mesodermal segmentation. ^[6] Beyond somitogenesis, DLL1-mediated Notch signaling is critical for establishing left–right asymmetry in the developing embryo by regulating the expression of the Nodal gene. Mutations in DLL1 can result in defects in this asymmetry, leading to congenital anomalies. Furthermore, DLL1 haploinsufficiency in humans has been associated with neurodevelopmental disorders, including microcephaly and hydrocephalus, due to impaired Notch signaling during brain development. ^[7]

The multifaceted roles of DLL1 in embryonic development underscore its importance in proper organogenesis and highlight the consequences of its dysregulation in human disease.

Interactions

Delta-like 1 has been shown to interact with NOTCH2.^[8][9][10]