InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DLL3

Summary

InnateDB Protein

IDBP-50588.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DLL3

Protein Name

delta-like 3 (Drosophila)

Synonyms

SCDO1;

Species

Homo sapiens

Ensembl Protein

ENSP00000205143

InnateDB Gene

IDBG-50586 (DLL3)

Protein Structure

UniProt Annotation

Function

Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300]: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf- like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. {ECO:0000269PubMed:10742114}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005112	Notch binding
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0001501	skeletal system development
GO:0001756	somitogenesis
GO:0007219	Notch signaling pathway
GO:0007275	multicellular organismal development
GO:0007386	compartment pattern specification
GO:0009888	tissue development
GO:0048339	paraxial mesoderm development
GO:0050768	negative regulation of neurogenesis

Cellular Component

GO:0016021

integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR011651 Notch ligand, N-terminal
IPR013111 EGF-like domain, extracellular

PFAM

PF00008
PF07645
PF07657
PF07974

PRINTS

PIRSF

SMART

SM00181
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NYJ7