DLL1
Delta-like protein 1
Also known as: DLL1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00548
- Gene
- DLL1
- Ensembl
- ENSG00000198719
- Chromosome
- 6
- Canonical length
- 723 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Plasma membrane
- Quaternary structure
- Homodimer
OverviewNCBI Gene
DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
723 residues, UniProt reviewed canonical sequence.
>O00548|DLL1
1 MGSRCALALA VLSALLCQVW SSGVFELKLQ EFVNKKGLLG NRNCCRGGAG PPPCACRTFF
61 RVCLKHYQAS VSPEPPCTYG SAVTPVLGVD SFSLPDGGGA DSAFSNPIRF PFGFTWPGTF
121 SLIIEALHTD SPDDLATENP ERLISRLATQ RHLTVGEEWS QDLHSSGRTD LKYSYRFVCD
181 EHYYGEGCSV FCRPRDDAFG HFTCGERGEK VCNPGWKGPY CTEPICLPGC DEQHGFCDKP
241 GECKCRVGWQ GRYCDECIRY PGCLHGTCQQ PWQCNCQEGW GGLFCNQDLN YCTHHKPCKN
301 GATCTNTGQG SYTCSCRPGY TGATCELGID ECDPSPCKNG GSCTDLENSY SCTCPPGFYG
361 KICELSAMTC ADGPCFNGGR CSDSPDGGYS CRCPVGYSGF NCEKKIDYCS SSPCSNGAKC
421 VDLGDAYLCR CQAGFSGRHC DDNVDDCASS PCANGGTCRD GVNDFSCTCP PGYTGRNCSA
481 PVSRCEHAPC HNGATCHERG HRYVCECARG YGGPNCQFLL PELPPGPAVV DLTEKLEGQG
541 GPFPWVAVCA GVILVLMLLL GCAAVVVCVR LRLQKHRPPA DPCRGETETM NNLANCQREK
601 DISVSIIGAT QIKNTNKKAD FHGDHSADKN GFKARYPAVD YNLVQDLKGD DTAVRDAHSK
661 RDTKCQPQGS SGEEKGTPTT LRGGEASERK RPDSGCSTSK DTKYQSVYVI SEEKDECVIA
721 TEVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DLL1 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)
- 0.45
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- spleen: 43 nTPM
- prostate: 23 nTPM
- skin: 21 nTPM
- vagina: 18 nTPM
- esophagus: 17 nTPM
- adipose tissue: 16 nTPM
Single-cell type
- ependymal cells: 61 nCPM
- renal collecting duct intercalated cells: 48 nCPM
- oligodendrocyte progenitor cells: 37 nCPM
- oligodendrocytes: 26 nCPM
- bergmann glia: 24 nCPM
- astrocytes: 23 nCPM
Immune cell
- NK-cell: 3.3 nTPM
- non-classical monocyte: 0.4 nTPM
- intermediate monocyte: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
- total PBMC: 0.1 nTPM
Brain region
- white matter: 32 nTPM
- basal ganglia: 23 nTPM
- medulla oblongata: 22 nTPM
- midbrain: 20 nTPM
- pons: 19 nTPM
- cerebral cortex: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DLL1.
Disease | AllUniProt
Conditions DLL1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures (NEDBAS) MIM:618709
Disease | GeneticClinVar
64 pathogenic / likely-pathogenic of 703 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
- Inborn genetic diseases
- DLL1-related disorder
- Neurodevelopmental delay
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)
- 0.1
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.82
- DepMap mean gene effect
- -0.05
- 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
- astrocyte development
- cell differentiation
- cell fate determination
- cerebellar Purkinje cell layer structural organization
- clathrin-dependent endocytosis
- compartment pattern specification
- determination of left/right symmetry
- endothelial tip cell fate specification
- energy homeostasis
- heart looping
- hemopoiesis
- inhibition of neuroepithelial cell differentiation
- inner ear auditory receptor cell differentiation
- lateral inhibition
- left/right axis specification
- loop of Henle development
- marginal zone B cell differentiation
- myeloid cell differentiation
- negative regulation of cardiac muscle cell differentiation
- negative regulation of cell differentiation
- negative regulation of cell population proliferation
- negative regulation of epidermal cell differentiation
- negative regulation of epithelial cell differentiation
- negative regulation of glial cell apoptotic process
- negative regulation of inner ear auditory receptor cell differentiation
- negative regulation of interleukin-10 production
- negative regulation of myeloid cell differentiation
- negative regulation of myoblast differentiation
- negative regulation of neuron differentiation
- negative regulation of Notch signaling pathway
- nephron development
- neuroepithelial cell differentiation
- neuron fate specification
- neuronal stem cell population maintenance
- Notch signaling pathway
- organ growth
- positive regulation of cell population proliferation
- positive regulation of endocytosis
- positive regulation of gene expression
- positive regulation of Notch signaling pathway
- positive regulation of skeletal muscle tissue growth
- positive regulation of sprouting angiogenesis
- positive regulation of transcription by RNA polymerase II
- proximal tubule development
- proximal/distal pattern formation
- regulation of blood pressure
- regulation of cell adhesion
- regulation of cell division
- regulation of growth
- regulation of neurogenesis
- regulation of somitogenesis
- regulation of vascular endothelial growth factor receptor signaling pathway
- regulation of vascular endothelial growth factor signaling pathway
- retina development in camera-type eye
- retina morphogenesis in camera-type eye
- skeletal muscle tissue growth
- skin epidermis development
- somite specification
- somitogenesis
- spinal cord development
- type B pancreatic cell development
- cerebellar molecular layer formation
- Notch signaling pathway involved in arterial endothelial cell fate commitment
- regulation of skeletal muscle tissue growth
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- EGF-type aspartate/asparagine hydroxylation site
- EGF-like domain
- Delta/Serrate/lag-2 (DSL) protein
- EGF-like calcium-binding domain
- Growth factor receptor cysteine-rich domain superfamily
- Notch ligand, N-terminal domain
- EGF-like calcium-binding, conserved site
- EGF-like domain
- Delta serrate ligand
- N terminus of Notch ligand C2-like domain
- Delta-like/Jagged, EGF-like domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DLL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DLL1 as an antibody target. Whether an autoantibody or antibody against DLL1 could matter depends on whether native DLL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DLL1 is annotated at the cell surface, where native DLL1 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 DLL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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