Sequence in raw or FASTA format:
DLL3 delta-like 3 (Drosophila) [Homo sapiens (human)]
|Entrez Gene ID||10683|
|Full Name||delta-like 3 (Drosophila)|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3)
|hsa04330||Notch signaling pathway|
|WP268||Notch Signaling Pathway|
|WP2064||Neural Crest Differentiation|
|notch_pathway||Notch signaling pathway|
|Homo sapiens (human)||DLL3||NP_058637.1|
|Pan troglodytes (chimpanzee)||DLL3||XP_003316395.1|
|Macaca mulatta (Rhesus monkey)||DLL3||XP_001088937.2|
|Canis lupus familiaris (dog)||DLL3||XP_005616942.1|
|Bos taurus (cattle)||DLL3||NP_001179009.2|
|Mus musculus (house mouse)||Dll3||NP_031892.2|
|Rattus norvegicus (Norway rat)||Dll3||NP_446118.1|
|GO:0001501||skeletal system development||IMP|
|GO:0007219||Notch signaling pathway||IEA|
|GO:0007386||compartment pattern specification||IEA|
|GO:0048339||paraxial mesoderm development||IEA|
|GO:0050768||negative regulation of neurogenesis||IEA|
|GO:0016021||integral component of membrane||NAS|
What is the normal function of the DLL3 gene?
The DLL3 gene provides instructions for making a protein that helps control (regulate) the Notch pathway, an important pathway in embryonic development. The Notch pathway plays a critical role in the development of vertebrae. Specifically, the DLL3 protein and the Notch pathway are involved in separating future vertebrae from one another during early development, a complex process called somite segmentation. Although the exact mechanism of somite segmentation is unclear, it appears to require the activity of several proteins in the Notch pathway, including the NOTCH1 protein, to be turned on and off in a specific pattern (oscillate).
The DLL3 protein regulates the activity of the NOTCH1 protein. The DLL3 protein attaches (binds) to the inactive NOTCH1 protein and isolates (sequesters) it or marks it to be broken down so that it cannot be activated.
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