DLL1 Gene - Delta Like Canonical Notch Ligand 1
Comprehensive genomic and functional analysis of DLL1 in development and disease
Gene Information Card
| Symbol | DLL1 |
|---|---|
| Full Name | Delta Like Canonical Notch Ligand 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 28514 ncbi.nlm.nih.gov/gene/28514 |
| Ensembl ID | ENSG00000198719 |
| UniProt ID | O00548 |
| OMIM ID | 606582 |
| HGNC ID | 2908 |
| Aliases | Delta, DL1, Delta-like 1, H-Delta-1 |
Description
DLL1 (Delta Like Canonical Notch Ligand 1) is a protein-coding gene that encodes a transmembrane ligand for Notch receptors. It plays a critical role in cell-cell signaling during development, particularly in neurogenesis, somitogenesis, and vascular development. DLL1 activates Notch signaling in neighboring cells, regulating cell fate determination, differentiation, and proliferation. Mutations and dysregulation of DLL1 are associated with neurodevelopmental disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with spasticity and poor growth | Loss-of-function mutations impair Notch signaling, disrupting neuronal differentiation | ClinVar, OMIM |
| Spondylocostal dysostosis 1 | DLL1 mutations disrupt somitogenesis, leading to vertebral and rib malformations | OMIM |
| Alagille syndrome (rare) | DLL1 variants may contribute to Notch pathway dysfunction in bile duct and heart development | ClinVar |
| Cancer (various) | DLL1 overexpression or silencing alters Notch signaling, promoting tumor growth or suppression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 2.4 | Not detected |
| Kidney | 5.7 | Low |
| Testis | 15.2 | Medium |
| Spleen | 4.8 | Low |
| Pancreas | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | High expression |
| HUVEC (endothelial) | 22.3 | High expression |
| HeLa (cervical) | 7.2 | Low expression |
| MCF7 (breast) | 5.1 | Low expression |
| A549 (lung) | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.676C>T (p.Arg226*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired ligand-receptor binding |
| c.1567_1568del (p.Leu523fs) | Frameshift | Rare | Loss of function; disrupted transmembrane domain |
| c.88C>T (p.Arg30Cys) | Missense | Rare | Reduced Notch activation |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that truncate or destabilize the protein, reducing Notch signaling.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may act as gain-of-function.
Dominant Negative (DN)
Missense mutations that produce a non-functional ligand that competes with wild-type DLL1.
View complete mutation data：
Gene Ontology (GO)
| • Notch binding | • calcium ion binding |
| • plasma membrane | • integral component of membrane |
| • cell differentiation | • nervous system development |
| • somitogenesis | • angiogenesis |
| • positive regulation of Notch signaling pathway |
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Developmental biology (Reactome: R-HSA-1266738)
• Signaling by Notch (Reactome: R-HSA-157118)
Protein Summary
DLL1 is a 723-amino acid transmembrane protein with an extracellular Delta/Serrate/Lag-2 (DSL) domain essential for Notch receptor binding. It undergoes proteolytic processing and is expressed on the cell surface, where it mediates juxtacrine signaling. The protein is involved in cell fate decisions, particularly in neural and vascular development. Post-translational modifications include glycosylation and ubiquitination, regulating its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLL1 Knockout HEK293 Cell Line | EDJ-KQ415 | Human | 28514 | Details Get a Quote |
| DLL1 Knockout HCT 116 Cell Line | EDJ-KQ17995 | Human | 28514 | Details Get a Quote |
| DLL1 Knockout HeLa Cell Line | EDJ-KQ56075 | Human | 28514 | Details Get a Quote |
| DLL1 Knockout A-549 Cell Line | EDJ-KQ64558 | Human | 28514 | Details Get a Quote |
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