DLL3
Delta-like protein 3
Also known as: DLL3_HUMAN, SCDO1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NYJ7
- Gene
- DLL3
- Ensembl
- ENSG00000090932
- Chromosome
- 19
- Canonical length
- 618 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Golgi apparatus,Plasma membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
618 residues, UniProt reviewed canonical sequence.
>Q9NYJ7|DLL3
1 MVSPRMSGLL SQTVILALIF LPQTRPAGVF ELQIHSFGPG PGPGAPRSPC SARLPCRLFF
61 RVCLKPGLSE EAAESPCALG AALSARGPVY TEQPGAPAPD LPLPDGLLQV PFRDAWPGTF
121 SFIIETWREE LGDQIGGPAW SLLARVAGRR RLAAGGPWAR DIQRAGAWEL RFSYRARCEP
181 PAVGTACTRL CRPRSAPSRC GPGLRPCAPL EDECEAPLVC RAGCSPEHGF CEQPGECRCL
241 EGWTGPLCTV PVSTSSCLSP RGPSSATTGC LVPGPGPCDG NPCANGGSCS ETPRSFECTC
301 PRGFYGLRCE VSGVTCADGP CFNGGLCVGG ADPDSAYICH CPPGFQGSNC EKRVDRCSLQ
361 PCRNGGLCLD LGHALRCRCR AGFAGPRCEH DLDDCAGRAC ANGGTCVEGG GAHRCSCALG
421 FGGRDCRERA DPCAARPCAH GGRCYAHFSG LVCACAPGYM GARCEFPVHP DGASALPAAP
481 PGLRPGDPQR YLLPPALGLL VAAGVAGAAL LLVHVRRRGH SQDAGSRLLA GTPEPSVHAL
541 PDALNNLRTQ EGSGDGPSSS VDWNRPEDVD PQGIYVISAP SIYAREVATP LFPPLHTGRA
601 GQRQHLLFPY PSSILSVKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DLL3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 27 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 27 nTPM
- basal ganglia: 11 nTPM
- amygdala: 11 nTPM
- hypothalamus: 8.3 nTPM
- hippocampal formation: 7.9 nTPM
- midbrain: 5.8 nTPM
Single-cell type
- oocytes: 97 nCPM
- oligodendrocyte progenitor cells: 49 nCPM
- differentiating spermatogonia: 46 nCPM
- undifferentiated spermatogonia: 27 nCPM
- early primary spermatocytes: 17 nCPM
- epididymal basal cells: 13 nCPM
Immune cell
- memory B-cell: 2.6 nTPM
- naive CD8 T-cell: 1.4 nTPM
- memory CD8 T-cell: 0.5 nTPM
- naive B-cell: 0.4 nTPM
- gdT-cell: 0.3 nTPM
- total PBMC: 0.2 nTPM
Brain region
- basal ganglia: 7.7 nTPM
- white matter: 7.2 nTPM
- cerebral cortex: 6 nTPM
- medulla oblongata: 6 nTPM
- amygdala: 5.7 nTPM
- midbrain: 5.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DLL3.
Disease | AllUniProt
Conditions DLL3 is implicated in, by any mechanism.
- Spondylocostal dysostosis 1, autosomal recessive (SCDO1) MIM:277300
Disease | GeneticClinVar
56 pathogenic / likely-pathogenic of 700 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spondylocostal dysostosis 1, autosomal recessive
- Hemivertebrae
- Rib fusion
- DLL3-related disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.87
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.33
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- compartment pattern specification
- negative regulation of neurogenesis
- negative regulation of Notch signaling pathway
- Notch signaling pathway
- paraxial mesoderm development
- skeletal system development
- somitogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DLL3 as an antibody target. Whether an autoantibody or antibody against DLL3 could matter depends on whether native DLL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DLL3 is annotated at the cell surface, where native DLL3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DLL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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