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Aliases for DLL1 Gene

Aliases for DLL1 Gene

  • Delta Like Canonical Notch Ligand 1 2 3 5
  • Drosophila Delta Homolog 1 3 4
  • H-Delta-1 3 4
  • Delta1 3 4
  • Delta (Drosophila)-Like 1 2
  • Delta-Like 1 (Drosophila) 2
  • Delta-Like Protein 1 3
  • Delta 3
  • 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 Alobar Holoprosencephaly and Single Median Maxillary Central Incisor. Among its related pathways are Notch signaling pathway (KEGG) and Signaling by NOTCH1. GO annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is DLL4.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLL1 Gene

Genomics for DLL1 Gene

Regulatory Elements for DLL1 Gene

Enhancers for DLL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G170517 1 Ensembl ENCODE 10.4 -210.6 -210627 0.4 CTCF TBL1XR1 CREB3L1 MAX ZNF644 ZNF2 ZSCAN9 RAD21 ZNF143 SMC3 DLL1 FAM120B PDCD2 PIR55352 PIR48716
GH06G170521 0.9 ENCODE dbSUPER 10.4 -217.2 -217189 3.6 CTCF RAD51 POLR2A GATA2 SMARCA4 IKZF1 USF2 RAD21 PSMB1 TBP DLL1 FAM120B TCTE3 ERMARD PDCD2 PIR55352 PIR48716
GH06G170278 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.6 +26.6 26607 3.1 HDGF SIN3A FEZF1 GLI4 GLIS2 FOS KLF7 ZNF263 SP3 YY2 LOC285804 FAM120B LINC01624 DLL1 TCTE3 WDR27 TBP
GH06G170227 0.4 ENCODE 11.4 +78.7 78686 1.1 POLR2A SUPT5H FAM120B DLL1 RPL12P23 LOC154449
GH06G170387 0.4 ENCODE 10.5 -81.5 -81541 0.7 REST ENSG00000261003 DLL1 FAM120B LOC285804 LOC105378155 GC06P170340 PIR39833
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLL1 on UCSC Golden Path with GeneCards custom track

Promoters for DLL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000207298 -235 1601 HDGF HNRNPUL1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9

Genomic Location for DLL1 Gene

Chromosome:
6
Start:
170,282,200 bp from pter
End:
170,306,565 bp from pter
Size:
24,366 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 StructureGene Density

RefSeq DNA sequence for DLL1 Gene

Proteins for DLL1 Gene

  • 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 (By similarity).

    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

  • O-fucosylated. Can be elongated to a disaccharide by MFNG.
  • 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.
  • 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).
  • Glycosylation at Asn477
  • Modification sites at PhosphoSitePlus

Other Protein References for DLL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DLL1 (DLL1)
  • Abcam antibodies for DLL1

No data available for DME Specific Peptides for DLL1 Gene

Domains & Families for DLL1 Gene

Suggested Antigen Peptide Sequences for DLL1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for DLL1 Gene

Function for DLL1 Gene

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

Gene Ontology (GO) - Molecular Function for DLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005112 Notch binding IPI,IEA 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

Animal Models for DLL1 Gene

MGI Knock Outs for DLL1:

Animal Model Products

miRNA for DLL1 Gene

miRTarBase miRNAs that target DLL1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLL1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
cytosol 2
peroxisome 1
nucleus 1

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,IEA --
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

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

Transcripts for DLL1 Gene

mRNA/cDNA for DLL1 Gene

Unigene Clusters for DLL1 Gene

Delta-like 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLL1

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
DLL1

Expression for DLL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of DLL1 Gene:

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(3.7)
  • Blood(2.7)
  • Spleen(2.1)
  • Heart(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
Organs:
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

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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia DLL1 34 35
  • 89.07 (n)
cow
(Bos Taurus)
Mammalia DLL1 34 35
  • 87.75 (n)
mouse
(Mus musculus)
Mammalia Dll1 34 16 35
  • 85.3 (n)
rat
(Rattus norvegicus)
Mammalia Dll1 34
  • 85.2 (n)
oppossum
(Monodelphis domestica)
Mammalia DLL1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLL1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLL1 34 35
  • 81.96 (n)
lizard
(Anolis carolinensis)
Reptilia DLL1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dll1 34
  • 72.98 (n)
Str.15072 34
African clawed frog
(Xenopus laevis)
Amphibia MGC52561 34
zebrafish
(Danio rerio)
Actinopterygii dld 34 35
  • 70.25 (n)
dla 35
  • 60 (a)
OneToMany
dlb 35
  • 53 (a)
OneToMany
dlc 35
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3500 34
fruit fly
(Drosophila melanogaster)
Insecta Dl 36 34 35
  • 57.12 (n)
CG15388 36
  • 38 (a)
C901 36
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010265 34
  • 53.97 (n)
worm
(Caenorhabditis elegans)
Secernentea apx-1 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7799 35
  • 34 (a)
ManyToMany
-- 35
  • 25 (a)
ManyToMany
Species where no ortholog for DLL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for DLL1 Gene

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

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

Variants for DLL1 Gene

Sequence variations from dbSNP and Humsavar for DLL1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs193920766 Uncertain significance 170,283,568(-) TCCGG(A/C)TGAGG intron-variant, reference, missense
rs573197356 Uncertain significance 170,283,475(+) TGAGA(-/TGT)CCTTC intron-variant, cds-indel
rs760189276 Uncertain significance 170,283,037(+) ACACC(A/G)ACTGG reference, missense
rs1000206263 -- 170,285,197(+) ACTCC(A/G)TTCAA intron-variant
rs1000216858 -- 170,284,199(+) AATAC(A/G)AGAGG intron-variant

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)

Relevant External Links for DLL1 Gene

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

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

Disorders for DLL1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for DLL1 Gene - From: Orphanet, DISEASES, and GeneCards

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

Relevant External Links for DLL1

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

No data available for UniProtKB/Swiss-Prot and 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. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
  2. Synaptojanin-2 binding protein stabilizes the Notch ligands DLL1 and DLL4 and inhibits sprouting angiogenesis. (PMID: 24025447) Adam M.G. … Fischer A. (Circ. Res. 2013) 3 4 64
  3. 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 64
  4. Notch1 induces enhanced expression of Delta-like-1 in the U251MG glioma cell line. (PMID: 19724883) Qian C.F. … You Y.P. (Int. J. Mol. Med. 2009) 3 22 64
  5. FGFR2 is associated with hair thickness in Asian populations. (PMID: 19590514) Fujimoto A. … Ohashi J. (J. Hum. Genet. 2009) 3 46 64

Products for DLL1 Gene

  • Addgene plasmids for DLL1

Sources for DLL1 Gene

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