Human Gene DLL3 (ENST00000205143.4) from GENCODE V44
Description: Homo sapiens delta like canonical Notch ligand 3 (DLL3), transcript variant 1, mRNA. (from RefSeq NM_016941) RefSeq Summary (NM_016941): 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]. Gencode Transcript: ENST00000205143.4 Gencode Gene: ENSG00000090932.11 Transcript (Including UTRs) Position: hg38 chr19:39,498,968-39,508,481 Size: 9,514 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr19:39,498,975-39,508,013 Size: 9,039 Coding Exon Count: 8
ID:DLL3_HUMAN DESCRIPTION: RecName: Full=Delta-like protein 3; AltName: Full=Drosophila Delta homolog 3; Short=Delta3; Flags: Precursor; 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). SUBUNIT: Can bind and activate Notch-1 or another Notch receptor (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Probable). DOMAIN: The DSL domain is required for binding to the Notch receptor. PTM: Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation (By similarity). DISEASE: Defects in DLL3 are the cause of spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]. An autosomal recessive 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. SIMILARITY: Contains 1 DSL domain. SIMILARITY: Contains 6 EGF-like domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DLL3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00008 - EGF-like domain PF12661 - Human growth factor-like EGF PF07657 - N terminus of Notch ligand
ModBase Predicted Comparative 3D Structure on Q9NYJ7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
