DLL1 Gene (Protein Coding)

Delta Like Canonical Notch Ligand 1

GC06M170282
GIFtS:
46
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] See more...

Aliases for DLL1 Gene

Aliases for DLL1 Gene

  • Delta Like Canonical Notch Ligand 1 2 3 5
  • Drosophila Delta Homolog 1 3 4
  • Delta-Like Protein 1 3 4
  • H-Delta-1 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Delta (Drosophila)-Like 1 2
  • Delta-Like 1 (Drosophila) 2
  • DELTA1 3
  • NEDBAS 3
  • Delta1 4
  • Delta 3
  • DLL1 5
  • DL1 3

External Ids for DLL1 Gene

Previous GeneCards Identifiers for DLL1 Gene

  • GC06M169786
  • GC06M170206
  • GC06M170447
  • GC06M170508
  • GC06M168099
  • GC06M170591

Summaries for DLL1 Gene

Entrez Gene Summary for DLL1 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]

GeneCards Summary for DLL1 Gene

DLL1 (Delta Like Canonical Notch Ligand 1) is a Protein Coding gene. Diseases associated with DLL1 include Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures and Alobar Holoprosencephaly. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is DLL4.

UniProtKB/Swiss-Prot Summary for DLL1 Gene

  • 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 force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain of Notch receptors (NICD) (By similarity). Is required for embryonic development and maintenance of adult stem cells in many different tissues and immune systeme; the DLL1-induced Notch signaling is mediated through an intercellular communication that regulates cell lineage, cell specification, cell patterning and morphogenesis through effects on differentiation and proliferation (PubMed:11581320). Plays a role in brain development at different level, namely by regulating neuronal differentiation of neural precursor cells via cell-cell interaction, most likely through the lateral inhibitory system in an endogenous level dependent-manner. During neocortex development, Dll1-Notch signaling transmission is mediated by dynamic interactions between intermediate neurogenic progenitors and radial glia; the cell-cell interactions are mediated via dynamic and transient elongation processes, likely to reactivate/maintain Notch activity in neighboring progenitors, and coordinate progenitor cell division and differentiation across radial and zonal boundaries. During cerebellar development, regulates Bergmann glial monolayer formation and its morphological maturation through a Notch signaling pathway. At the retina and spinal cord level, regulates neurogenesis by preventing the premature differentiation of neural progenitors and also by maintaining progenitors in spinal cord through Notch signaling pathway. Also controls neurogenesis of the neural tube in a progenitor domain-specific fashion along the dorsoventral axis. Maintains quiescence of neural stem cells and plays a role as a fate determinant that segregates asymmetrically to one daughter cell during neural stem cells mitosis, resulting in neuronal differentiation in Dll1-inheriting cell. Plays a role in immune systeme development, namely the development of all T-cells and marginal zone (MZ) B-cells (By similarity). Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (PubMed:11581320). Also plays a role during muscle development. During early development, inhibits myoblasts differentiation from the medial dermomyotomal lip and later regulates progenitor cell differentiation. Directly modulates cell adhesion and basal lamina formation in satellite cells through Notch signaling. Maintains myogenic progenitors pool by suppressing differentiation through down-regulation of MYOD1 and is required for satellite cell homing and PAX7 expression. During craniofacial and trunk myogenesis suppresses differentiation of cranial mesoderm-derived and somite-derived muscle via MYOD1 regulation but in cranial mesoderm-derived progenitors, is neither required for satellite cell homing nor for PAX7 expression. Also plays a role during pancreatic cell development. During type B pancreatic cell development, may be involved in the initiation of proximodistal patterning in the early pancreatic epithelium. Stimulates multipotent pancreatic progenitor cells proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels. During fetal stages of development, is required to maintain arterial identity and the responsiveness of arterial endothelial cells for VEGFA through regulation of KDR activation and NRP1 expression. Controls sprouting angiogenesis and subsequent vertical branch formation througth regulation on tip cell differentiation. Negatively regulates goblet cell differentiation in intestine and controls secretory fat commitment through lateral inhibition in small intestine. Plays a role during inner ear development; negatively regulates auditory hair cell differentiation. Plays a role during nephron development through Notch signaling pathway. Regulates growth, blood pressure and energy homeostasis (By similarity).

Gene Wiki entry for DLL1 Gene

Additional gene information for DLL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLL1 Gene

Genomics for DLL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DLL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLL1

Top Transcription factor binding sites by QIAGEN in the DLL1 gene promoter:
  • CBF(2)
  • E47
  • Evi-1
  • FOXD3
  • GATA-1
  • HOXA5
  • NF-1/L
  • NF-Y
  • STAT3
  • Tal-1

Genomic Locations for DLL1 Gene

Latest Assembly
chr6:170,282,200-170,306,565
(GRCh38/hg38)
Size:
24,366 bases
Orientation:
Minus strand

Previous Assembly
chr6:170,591,294-170,600,166
(GRCh37/hg19 by Entrez Gene)
Size:
8,873 bases
Orientation:
Minus strand

chr6:170,591,294-170,599,561
(GRCh37/hg19 by Ensembl)
Size:
8,268 bases
Orientation:
Minus strand

Genomic View for DLL1 Gene

Genes around DLL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DLL1 Gene

Proteins for DLL1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for DLL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00548-DLL1_HUMAN
    Recommended name:
    Delta-like protein 1
    Protein Accession:
    O00548
    Secondary Accessions:
    • B2RAK7
    • B5M0B3
    • Q9NU41
    • Q9UJV2

    Protein attributes for DLL1 Gene

    Size:
    723 amino acids
    Molecular mass:
    78056 Da
    Quaternary structure:
    • Homodimer. Interacts with TJP1. Interacts with MAGI1 (via PDZ domain); forms a complex with CTNNB1 and CDH2 and promotes recruitment to the adherens junction and stabilization on the cell surface. Interacts with PSEN1; undergoes a presenilin-dependent gamma-secretase cleavage that releases a Dll1-intracellular form. Interacts with MFAP5. Interacts with MIB1. Interacts with NEURL1B; leads to ubiquitination. Interacts with NEURL1 (By similarity). Interacts with SYNJ2BP; enhances DLL1 protein stability, and promotes Notch signaling in endothelial cells (PubMed:24025447). Interacts with MAGI1, MAGI2, MAGI3 and MPDZ (PubMed:15509766). Interacts (via ubiquitin) with EPN1 (via IUM domain); binding with NOTCH1 attached to neighboring cell, promotes ligand ubiquitination and EPN1 interaction, leading to NECD transendocytosis and Notch signaling. Interacts with NOTCH1 (By similarity) (PubMed:15509766, PubMed:24025447). Interacts with NOTCH2NLB; leading to promote Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions (PubMed:29856955).

    Three dimensional structures from OCA and Proteopedia for DLL1 Gene

    Alternative splice isoforms for DLL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLL1 Gene

Post-translational modifications for DLL1 Gene

  • Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation (By similarity). Ubiquitinated; promotes recycling back to the plasma membrane and confers a strong affinity for NOTCH1. Multi-ubiquitination of LYS-613 by MIB1 promotes both cis and trans-interaction with NOTCH1, as well as activation of Notch signaling. Ubiquitinated by NEURL1B (By similarity).
  • Phosphorylated in a membrane association-dependent manner. Phosphorylation at Ser-697 requires the presence of Ser-694, whereas phosphorylation at Ser-694 occurs independently of the other site. Phosphorylation is required for full ligand activity in vitro and affects surface presentation, ectodomain shedding, and endocytosis.
  • O-fucosylated. Can be elongated to a disaccharide by MFNG.
  • Glycosylation at Asn477
  • Ubiquitination at Lys613
  • Modification sites at PhosphoSitePlus

Other Protein References for DLL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DLL1 Gene

Domains & Families for DLL1 Gene

Gene Families for DLL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DLL1 Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • Type II EGF-like signature
  • Delta/Serrate/lag-2 (DSL) protein
  • EGF-like calcium-binding
  • Notch ligand, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for DLL1 Gene

GenScript: Design optimal peptide antigens:
  • Delta-like 1 protein (B5M0B3_HUMAN)
  • Drosophila Delta homolog 1 (DLL1_HUMAN)
genes like me logo Genes that share domains with DLL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DLL1 Gene

Function for DLL1 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for DLL1 Gene

UniProtKB/Swiss-Prot 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 force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain of Notch receptors (NICD) (By similarity). Is required for embryonic development and maintenance of adult stem cells in many different tissues and immune systeme; the DLL1-induced Notch signaling is mediated through an intercellular communication that regulates cell lineage, cell specification, cell patterning and morphogenesis through effects on differentiation and proliferation (PubMed:11581320). Plays a role in brain development at different level, namely by regulating neuronal differentiation of neural precursor cells via cell-cell interaction, most likely through the lateral inhibitory system in an endogenous level dependent-manner. During neocortex development, Dll1-Notch signaling transmission is mediated by dynamic interactions between intermediate neurogenic progenitors and radial glia; the cell-cell interactions are mediated via dynamic and transient elongation processes, likely to reactivate/maintain Notch activity in neighboring progenitors, and coordinate progenitor cell division and differentiation across radial and zonal boundaries. During cerebellar development, regulates Bergmann glial monolayer formation and its morphological maturation through a Notch signaling pathway. At the retina and spinal cord level, regulates neurogenesis by preventing the premature differentiation of neural progenitors and also by maintaining progenitors in spinal cord through Notch signaling pathway. Also controls neurogenesis of the neural tube in a progenitor domain-specific fashion along the dorsoventral axis. Maintains quiescence of neural stem cells and plays a role as a fate determinant that segregates asymmetrically to one daughter cell during neural stem cells mitosis, resulting in neuronal differentiation in Dll1-inheriting cell. Plays a role in immune systeme development, namely the development of all T-cells and marginal zone (MZ) B-cells (By similarity). Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (PubMed:11581320). Also plays a role during muscle development. During early development, inhibits myoblasts differentiation from the medial dermomyotomal lip and later regulates progenitor cell differentiation. Directly modulates cell adhesion and basal lamina formation in satellite cells through Notch signaling. Maintains myogenic progenitors pool by suppressing differentiation through down-regulation of MYOD1 and is required for satellite cell homing and PAX7 expression. During craniofacial and trunk myogenesis suppresses differentiation of cranial mesoderm-derived and somite-derived muscle via MYOD1 regulation but in cranial mesoderm-derived progenitors, is neither required for satellite cell homing nor for PAX7 expression. Also plays a role during pancreatic cell development. During type B pancreatic cell development, may be involved in the initiation of proximodistal patterning in the early pancreatic epithelium. Stimulates multipotent pancreatic progenitor cells proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels. During fetal stages of development, is required to maintain arterial identity and the responsiveness of arterial endothelial cells for VEGFA through regulation of KDR activation and NRP1 expression. Controls sprouting angiogenesis and subsequent vertical branch formation througth regulation on tip cell differentiation. Negatively regulates goblet cell differentiation in intestine and controls secretory fat commitment through lateral inhibition in small intestine. Plays a role during inner ear development; negatively regulates auditory hair cell differentiation. Plays a role during nephron development through Notch signaling pathway. Regulates growth, blood pressure and energy homeostasis (By similarity).

LifeMap Function Summary for DLL1 Gene

During embryonic development, DLL1 as signaling molecule is secreted from the following cells

Phenotypes From GWAS Catalog for DLL1 Gene

Gene Ontology (GO) - Molecular Function for DLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005112 Notch binding IBA,IPI 10079256
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10079256
GO:0030957 Tat protein binding IPI 15509766
GO:0097110 scaffold protein binding IEA --
genes like me logo Genes that share ontologies with DLL1: view
genes like me logo Genes that share phenotypes with DLL1: view

Human Phenotype Ontology for DLL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLL1 Gene

MGI Knock Outs for DLL1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLL1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DLL1 Gene

Localization for DLL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLL1 Gene

Apical cell membrane. Single-pass type I membrane protein. Cell junction, adherens junction. Membrane raft. Note=Distributed around adherens junction in the apical endfeet through interactions with MAGI1. {ECO:0000250 UniProtKB:Q61483}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLL1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytoskeleton 2
mitochondrion 2
cytosol 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 11823422
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 10079256
GO:0005912 adherens junction ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DLL1: view

Pathways & Interactions for DLL1 Gene

genes like me logo Genes that share pathways with DLL1: view

Pathways by source for DLL1 Gene

1 Sino Biological pathway for DLL1 Gene
2 GeneGo (Thomson Reuters) pathways for DLL1 Gene
  • Development Notch Signaling Pathway
  • Development NOTCH1-mediated pathway for NF-KB activity modulation
1 R&D Systems pathway for DLL1 Gene
1 Qiagen pathway for DLL1 Gene
  • Epithelial Adherens Junctions
1 Cell Signaling Technology pathway for DLL1 Gene
1 GeneTex pathway for DLL1 Gene

SIGNOR curated interactions for DLL1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for DLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001709 cell fate determination NAS 11581320
GO:0001756 somitogenesis ISS --
GO:0001757 somite specification IEA --
GO:0001947 heart looping ISS --
GO:0002315 marginal zone B cell differentiation ISS --
genes like me logo Genes that share ontologies with DLL1: view

Drugs & Compounds for DLL1 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for DLL1 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for DLL1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLL1

Alternative Splicing Database (ASD) splice patterns (SP) for DLL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: - -
SP2:
SP3:
SP4:

Relevant External Links for DLL1 Gene

GeneLoc Exon Structure for
DLL1

Expression for DLL1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLL1 Gene

mRNA expression in normal human tissues for DLL1 Gene
mRNA expression by BioGPS for DLL1 GenemRNA expression by GTEx for DLL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLL1 Gene

This gene is overexpressed in Spleen (x5.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLL1

SOURCE GeneReport for Unigene cluster for DLL1 Gene:

Hs.379912

mRNA Expression by UniProt/SwissProt for DLL1 Gene:

O00548-DLL1_HUMAN
Tissue specificity: Expressed in heart and pancreas, with lower expression in brain and muscle and almost no expression in placenta, lung, liver and kidney.

Evidence on tissue expression from TISSUES for DLL1 Gene

  • Nervous system(3.9)
  • Spleen(2.6)
  • Skin(2.6)
  • Intestine(2.4)
  • Blood(2.4)
  • Heart(2.3)
  • Bone marrow(2.2)
  • Lung(2.2)
  • Muscle(2.2)
  • Lymph node(2.2)
  • Kidney(2.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DLL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • pituitary gland
  • skull
  • tooth
General:
  • skin
genes like me logo Genes that share expression patterns with DLL1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DLL1 Gene

Orthologs for DLL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DLL1 30 31
  • 99.49 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DLL1 30 31
  • 89.07 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DLL1 30 31
  • 87.75 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dll1 30 17 31
  • 85.3 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dll1 30
  • 85.2 (n)
Oppossum
(Monodelphis domestica)
 Mammalia DLL1 31
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DLL1 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DLL1 30 31
  • 81.96 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DLL1 31
  • 67 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dll1 30
  • 72.98 (n)
Str.15072 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC52561 30
Zebrafish
(Danio rerio)
 Actinopterygii dld 30 31
  • 70.25 (n)
 OneToMany
dla 31
  • 60 (a)
 OneToMany
dlb 31
  • 53 (a)
 OneToMany
dlc 31
  • 50 (a)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3500 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Dl 30 31 32
  • 57.12 (n)
 OneToMany
CG15388 32
  • 38 (a)
C901 32
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010265 30
  • 53.97 (n)
Worm
(Caenorhabditis elegans)
 Secernentea apx-1 32
  • 32 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7799 31
  • 34 (a)
 ManyToMany
-- 31
  • 25 (a)
 ManyToMany
Species where no ortholog for DLL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DLL1 Gene

ENSEMBL:
Gene Tree for DLL1 (if available)
TreeFam:
Gene Tree for DLL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLL1: view image

Paralogs for DLL1 Gene

Paralogs for DLL1 Gene

(4) SIMAP similar genes for DLL1 Gene using alignment to 2 proteins:

  • DLL1_HUMAN
  • B5M0B3_HUMAN
genes like me logo Genes that share paralogs with DLL1: view

Variants for DLL1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLL1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
982392 Pathogenic: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 170,289,710(-) TG/T
NM_005618.4(DLL1):c.152del (p.Pro51fs) 		FRAMESHIFT
985068 Pathogenic: Inborn genetic diseases 170,283,233(-) CCT/C
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs) 		FRAMESHIFT
985102 Pathogenic: Inborn genetic diseases 170,288,307(-) TG/T
NM_005618.4(DLL1):c.601del (p.His201fs) 		FRAMESHIFT
985505 Uncertain Significance: Inborn genetic diseases 170,285,662(-) A/C
NM_005618.4(DLL1):c.769T>G (p.Cys257Gly) 		MISSENSE
987099 Likely Pathogenic: not provided 170,288,283(-) T/TC
NM_005618.4(DLL1):c.625dup (p.Glu209fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DLL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DLL1 Gene

Variant ID Type Subtype PubMed ID
esv2759497 CNV gain+loss 17122850
nsv428158 CNV gain 18775914
nsv464226 CNV loss 19166990
nsv605554 CNV loss 21841781
nsv823936 CNV gain 20364138
nsv823937 CNV gain 20364138

Variation tolerance for DLL1 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLL1 Gene

Human Gene Mutation Database (HGMD)
DLL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLL1 Gene

Disorders for DLL1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for DLL1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DLL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DLL1_HUMAN
  • Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures (NEDBAS) [MIM:618709]: An autosomal dominant disorder characterized by developmental delay, intellectual disability, seizures, autism spectrum disorder, behavioral abnormalities, and variable non-specific brain malformations. {ECO:0000269 PubMed:31353024}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DLL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DLL1: view

No data available for Genatlas for DLL1 Gene

Publications for DLL1 Gene

  1. Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors. (PMID: 11006133) Shimizu K … Hirai H (Biochemical and biophysical research communications 2000) 3 4 23
  2. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. (PMID: 31353024) Fischer-Zirnsak B … Ehmke N (American journal of human genetics 2019) 4 74
  3. Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation. (PMID: 29856955) Suzuki IK … Vanderhaeghen P (Cell 2018) 3 4
  4. Synaptojanin-2 binding protein stabilizes the Notch ligands DLL1 and DLL4 and inhibits sprouting angiogenesis. (PMID: 24025447) Adam MG … Fischer A (Circulation research 2013) 3 4
  5. Discovery of novel human transcript variants by analysis of intronic single-block EST with polyadenylation site. (PMID: 19906316) Wang P … Ma D (BMC genomics 2009) 3 4

ExternalLinks

View latest publications for DLL1 gene in Mastermind

Products for DLL1 Gene

  • Addgene plasmids for DLL1

Sources for DLL1 Gene