DLL1 delta like canonical Notch ligand 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DLL1provided by HGNC
Official Full Name: delta like canonical Notch ligand 1provided by HGNC
Primary source: HGNC:HGNC:2908
See related: Ensembl:ENSG00000198719 MIM:606582; AllianceGenome:HGNC:2908
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DL1; Delta; DELTA1; NEDBAS
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]
Expression: Ubiquitous expression in spleen (RPKM 12.9), brain (RPKM 6.2) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q27

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (170282206..170291078, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (171640900..171649769, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (170591294..170600166, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association Between Soluble Notch Ligand Delta-like Ligand 1 and Bleeding Complications in Patients With Dengue Fever Infection.
Title: Association Between Soluble Notch Ligand Delta-like Ligand 1 and Bleeding Complications in Patients With Dengue Fever Infection.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Title: Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score.
Title: Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score.
The potential mechanism of miR-130b on promotion of the invasion and metastasis of hepatocellular carcinoma by inhibiting Notch-Dll1.
Title: The potential mechanism of miR-130b on promotion of the invasion and metastasis of hepatocellular carcinoma by inhibiting Notch-Dll1.
DLL1 is a novel host-derived biomarker for the diagnosis of sepsis with a better performance compared to established ones, most likely due to its high robustness in non-infectious inflammatory responses.
Title: Host-Derived <i>Delta-Like Canonical Notch Ligand 1</i> as a Novel Diagnostic Biomarker for Bacterial Sepsis-Results From a Combinational Secondary Analysis.
Knockdown of DLL1 could promote the cardiomyocyte differentiation.
Title: MIR148A family regulates cardiomyocyte differentiation of human embryonic stem cells by inhibiting the DLL1-mediated NOTCH signaling pathway.
DLL1 is a potent suppressor of pancreatic cancer metastasis. Understanding correlation between expression and function of DLL1 might contribute to our knowledge of the complicated mechanism of pancreatic cancer metastasis.
Title: Silencing Delta-like 1 Expression Induces Migratory Features in Pancreatic Cancer Cells Through Stimulation of Src and p38 Signalling Pathway.
The dissimilar effects of DLL1 downregulation observed amongst MCF-7, BT474, and MDA-MB-231 cells is likely due to their distinctive genetic and biologic characteristics, suggesting that DLL1 contributes to breast cancer through various mechanisms
Title: The Notch ligand DLL1 exerts carcinogenic features in human breast cancer cells.
DLL1 locus was marginally associated with TgAb levels in females.
Title: Genome-wide meta-analysis identifies novel gender specific loci associated with thyroid antibodies level in Croatians.
This study reveals NFIA as a pro-endocrine factor in the pancreas, acting to repress Mib1, inhibit Dll1 endocytosis and thus promote escape from Notch activation.
Title: Pancreatic Cell Fate Determination Relies on Notch Ligand Trafficking by NFIA.

Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures MedGen: C5231470 OMIM: 618709 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-03-09) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-09) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dll1 (e-PCR), detects polymorphism
- UniSTS:142854

DLL1_1441 (e-PCR)
- UniSTS:277165

DLL1_v480 (e-PCR)
- UniSTS:277165

Homology

Homologs of the DLL1 gene: The DLL1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 308 organisms have orthologs with human gene DLL1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables Notch binding	IPI Inferred from Physical Interaction more info	PubMed
enables Tat protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables scaffold protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in Notch signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in Notch signaling pathway involved in arterial endothelial cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in astrocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in cell fate determination	NAS Non-traceable Author Statement more info	PubMed
involved_in cerebellar Purkinje cell layer structural organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebellar molecular layer formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in clathrin-dependent endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in compartment pattern specification	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right symmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial tip cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in energy homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in hemopoiesis	NAS Non-traceable Author Statement more info	PubMed
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in lateral inhibition	ISS Inferred from Sequence or Structural Similarity more info
involved_in left/right axis specification	IEA Inferred from Electronic Annotation more info
involved_in loop of Henle development	IEA Inferred from Electronic Annotation more info
involved_in marginal zone B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of cardiac muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of epidermal cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of glial cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-10 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in nephron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron fate specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuronal stem cell population maintenance	IEP Inferred from Expression Pattern more info	PubMed
involved_in neuronal stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in organ growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of skeletal muscle tissue growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in proximal tubule development	IEA Inferred from Electronic Annotation more info
involved_in proximal/distal pattern formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of skeletal muscle tissue growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of somitogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of vascular endothelial growth factor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina morphogenesis in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle tissue growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in skin epidermis development	ISS Inferred from Sequence or Structural Similarity more info
involved_in somite specification	IEA Inferred from Electronic Annotation more info
involved_in somitogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in spinal cord development	ISS Inferred from Sequence or Structural Similarity more info
involved_in type B pancreatic cell development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in adherens junction	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in integral component of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane raft	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: delta-like protein 1

Names: H-Delta-1; drosophila Delta homolog 1; epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027940.1 RefSeqGene

Range

4532..13404

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005618.4 → NP_005609.3 delta-like protein 1 precursor

See identical proteins and their annotated locations for NP_005609.3

Status: REVIEWED

Source sequence(s)

AL078605, AY358892, DA243552, DR000029

Consensus CDS

CCDS5313.1

UniProtKB/Swiss-Prot

O00548

Related

ENSP00000355718.3, ENST00000366756.4

Conserved Domains (3) summary

smart00051
Location:159 → 221

DSL; delta serrate ligand

cd00054
Location:329 → 364

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam07657
Location:22 → 92

MNNL; N terminus of Notch ligand

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

170282206..170291078 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005266934.5 → XP_005266991.1 delta-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_005266991.1

Conserved Domains (3) summary

cd00054
Location:329 → 364

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam01414
Location:159 → 221

DSL; Delta serrate ligand

pfam07657
Location:22 → 91

MNNL; N terminus of Notch ligand