Gene Gene information from NCBI Gene database.
Entrez ID 28514
Gene name Delta like canonical Notch ligand 1
Gene symbol DLL1
Synonyms (NCBI Gene)
DELTA1DL1DeltaNEDBAS
Chromosome 6
Chromosome location 6q27
Summary 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]
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs371262985 C>A,T Pathogenic Missense variant, stop gained, coding sequence variant, intron variant
rs1583151308 CT>- Pathogenic Intron variant, coding sequence variant, frameshift variant
rs1583152162 G>A Pathogenic Intron variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
85
miRTarBase ID miRNA Experiments Reference
MIRT001757 hsa-miR-34a-5p ReviewLuciferase reporter assay 19461653
MIRT001757 hsa-miR-34a-5p ReviewLuciferase reporter assay 19461653
MIRT004584 hsa-miR-1-3p Review 20140609
MIRT001757 hsa-miR-34a-5p Luciferase reporter assay 20144220
MIRT001757 hsa-miR-34a-5p Luciferase reporter assay 14697198
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
143
GO ID Ontology Definition Evidence Reference
GO:0001709 Process Cell fate determination NAS 11581320
GO:0001756 Process Somitogenesis IEA
GO:0001756 Process Somitogenesis ISS
GO:0001757 Process Somite specification IEA
GO:0001947 Process Heart looping IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606582 2908 ENSG00000198719
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00548
Protein name Delta-like protein 1 (Drosophila Delta homolog 1) (Delta1) (H-Delta-1)
Protein function Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (PubMed:11006133). Following transinteraction, ligand cells produce mechanical forc
PDB 4XBM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07657 MNNL 22 92 N terminus of Notch ligand Family
PF01414 DSL 159 221 Delta serrate ligand Domain
PF00008 EGF 285 324 EGF-like domain Domain
PF00008 EGF 332 361 EGF-like domain Domain
PF00008 EGF 370 399 EGF-like domain Domain
PF00008 EGF 409 439 EGF-like domain Domain
PF00008 EGF 447 477 EGF-like domain Domain
PF12661 hEGF 490 511 Human growth factor-like EGF Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart and pancreas, with lower expression in brain and muscle and almost no expression in placenta, lung, liver and kidney.
Sequence
MGSRCALALAVLSALLCQVWSSGVFELKLQEFVNKKGLLGNRNCCRGGAGPPPCACRTFF
RVCLKHYQASVSPEPPCTYGSAVTPVLGVDSF
SLPDGGGADSAFSNPIRFPFGFTWPGTF
SLIIEALHTDSPDDLATENPERLISRLATQRHLTVGEEWSQDLHSSGRTDLKYSYRFVCD
EHYYGEGCSVFCRPRDDAFGHFTCGERGEKVCNPGWKGPYC
TEPICLPGCDEQHGFCDKP
GECKCRVGWQGRYCDECIRYPGCLHGTCQQPWQCNCQEGWGGLFCNQDLNYCTHHKPCKN
GATCTNTGQGSYTCSCRPGYTGAT
CELGIDECDPSPCKNGGSCTDLENSYSCTCPPGFYG
K
ICELSAMTCADGPCFNGGRCSDSPDGGYSCRCPVGYSGFNCEKKIDYCSSSPCSNGAKC
VDLGDAYLCRCQAGFSGRH
CDDNVDDCASSPCANGGTCRDGVNDFSCTCPPGYTGRNCSA
PVSRCEHAPCHNGATCHERGHRYVCECARGYGGPNCQFLLPELPPGPAVVDLTEKLEGQG
GPFPWVAVCAGVILVLMLLLGCAAVVVCVRLRLQKHRPPADPCRGETETMNNLANCQREK
DISVSIIGATQIKNTNKKADFHGDHSADKNGFKARYPAVDYNLVQDLKGDDTAVRDAHSK
RDTKCQPQGSSGEEKGTPTTLRGGEASERKRPDSGCSTSKDTKYQSVYVISEEKDECVIA
TEV
Sequence length 723
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Pathways in cancer
Chemical carcinogenesis - receptor activation
Breast cancer
  Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH3 Activation and Transmission of Signal to the Nucleus
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
120
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DLL1-related disorder Likely pathogenic rs2483358646, rs762743550 RCV003397689
RCV003967302
Neurodevelopmental delay Pathogenic rs2114964680 RCV002274335
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures Pathogenic; Likely pathogenic rs868738986, rs2114958269, rs2114966765, rs1248063937, rs2483348338, rs2483347067, rs760008381, rs2483363120, rs2483351391, rs2483362657, rs2483346002, rs2483352410, rs2483347423, rs2483345536, rs2483363365
View all (10 more)
RCV001787704
RCV001814738
RCV002221820
RCV002222286
RCV002290142
RCV002465385
RCV005603781
RCV002795909
RCV003151937
RCV003326677
RCV003230254
RCV003236640
RCV003314179
RCV003335821
RCV003388683
RCV003984963
RCV004556033
RCV004594745
RCV004595163
RCV000984540
RCV000984541
RCV000984542
RCV000984543
RCV000984544
RCV001261968
RCV003759038
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alobar holoprosencephaly Uncertain significance rs760189276 RCV000223770
Colon adenocarcinoma Likely benign rs139656180 RCV005925780
Holoprosencephaly sequence Benign rs573197356 RCV000223908
Prostate cancer Uncertain significance rs193920766 RCV000149173
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27196489
Adenoma Stimulate 25487926
Adenomatous Polyposis Coli Associate 25487926
Anemia Aplastic Associate 37980558
Aortic Aneurysm Thoracic Associate 23300792
Arthritis Rheumatoid Associate 37796367
Autism Spectrum Disorder Associate 28018572, 31353024
Barrett Esophagus Associate 26568294
Breast Neoplasms Associate 18681966, 31107884
Breast Neoplasms Inhibit 36008793