DLL3 Gene Summary [Human]
This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | DLL3 |
| Official Name | delta like canonical Notch ligand 3 [Source:HGNC Symbol;Acc:HGNC:2909] |
| Ensembl ID | ENSG00000090932 |
| Bio databases IDs | |
| Aliases | delta like canonical Notch ligand 3 |
| Synonyms | delta like canonical Notch ligand 3, pu, pudgy, SCDO1, δ like canonical Notch ligand 3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DLL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N terminus of Notch ligand C2-like domain
- protein binding
- Delta serrate ligand
- EGF_CA
- notch binding
Pathways
Biological processes and signaling networks where the DLL3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- extensive stage small cell lung cancer
- small cell lung cancer
- colon adenocarcinoma
- spondylocostal dysostosis type 1
- advanced small cell lung cancer
- metastatic small cell lung cancer
- colon epithelial cancer
- recurrent small cell lung cancer
- dysplasia
- autosomal recessive spondylocostal dysostosis
role in cell
- differentiation
- fate determination
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cellular membrane
- Plasma Membrane
- endosomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DLL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Notch signaling pathway
- skeletal system development
- somitogenesis
- cell differentiation
- paraxial mesoderm development
- negative regulation of neurogenesis
- compartment pattern specification
- negative regulation of Notch signaling pathway
Cellular Component
Where in the cell the gene product is active
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- calcium ion binding
- Notch binding