• Gene id: 10683

Gene Summary

• Gene Symbol: DLL3   Gene   UCSC   Ensembl
• Aliases: SCDO1
• Gene name: delta like canonical Notch ligand 3
• Alternate names: delta-like protein 3, delta-like 3, delta3, drosophila Delta homolog 3,
• Gene location: 19q13.2 (39498946: 39508468)     Exons: 8     NC_000019.10
• Gene summary(Entrez): 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 dysostos
• OMIM: 615088

Protein Summary

• Protein general information: Q9NYJ7  
  • Name: Delta like protein 3 (Drosophila Delta homolog 3) (Delta3)
  • Length: 618  
  • Mass: 64618
• Sequence:

  MVSPRMSGLLSQTVILALIFLPQTRPAGVFELQIHSFGPGPGPGAPRSPCSARLPCRLFFRVCLKPGLSEEAAES
  PCALGAALSARGPVYTEQPGAPAPDLPLPDGLLQVPFRDAWPGTFSFIIETWREELGDQIGGPAWSLLARVAGRR
  RLAAGGPWARDIQRAGAWELRFSYRARCEPPAVGTACTRLCRPRSAPSRCGPGLRPCAPLEDECEAPLVCRAGCS
  PEHGFCEQPGECRCLEGWTGPLCTVPVSTSSCLSPRGPSSATTGCLVPGPGPCDGNPCANGGSCSETPRSFECTC
  PRGFYGLRCEVSGVTCADGPCFNGGLCVGGADPDSAYICHCPPGFQGSNCEKRVDRCSLQPCRNGGLCLDLGHAL
  RCRCRAGFAGPRCEHDLDDCAGRACANGGTCVEGGGAHRCSCALGFGGRDCRERADPCAARPCAHGGRCYAHFSG
  LVCACAPGYMGARCEFPVHPDGASALPAAPPGLRPGDPQRYLLPPALGLLVAAGVAGAALLLVHVRRRGHSQDAG
  SRLLAGTPEPSVHALPDALNNLRTQEGSGDGPSSSVDWNRPEDVDPQGIYVISAPSIYAREVATPLFPPLHTGRA
  GQRQHLLFPYPSSILSVK

• Structural information:
  • Protein Domains: (176..21-)
    (/note="DSL-)
    (216..24-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (274..31-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (312..35-)
    (/note="EGF-like-3)
    (/eviden-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR009030  
  • Prosite: PS00022 PS01186 PS50026
  • STRING: ENSP00000205143
• Other Databases: GeneCards:  DLL3  Malacards:  DLL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045746	negative regulation of Notch signaling pathway	IBA	biological process
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0005112	Notch binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0007386	compartment pattern specification	IEA	biological process
GO:0009888	tissue development	IEA	biological process
GO:0048339	paraxial mesoderm development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0001501	skeletal system development	IMP	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005112	Notch binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05224	Breast cancer
hsa04658	Th1 and Th2 cell differentiation
hsa01522	Endocrine resistance
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Spondylocostal dysostosis	KEGG:H00517
Spondylocostal dysostosis	KEGG:H00517
Dysostosis	PMID:10742114
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray