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

Gene ID: 28514, updated on 17-May-2016
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 HPRD:05957; MIM:606582; Vega:OTTHUMG00000016078
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
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]
Orthologs
Location:
6q27
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (170282200..170306555, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (170591288..170599815, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC154449 Neighboring gene uncharacterized LOC285804 Neighboring gene long intergenic non-protein coding RNA 1624 Neighboring gene family with sequence similarity 120B Neighboring gene microRNA 4644 Neighboring gene uncharacterized LOC105378156 Neighboring gene uncharacterized LOC105378155

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
NHGRI GWA Catalog
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
NHGRI GWA Catalog
  • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
    Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
  • Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystemThe heterodimerization (HD) domain of NOTCH1, responsible for association of NOTCH1 extracellular and transmembrane regions after furin-mediated cleavage of NOTCH1 precursor, is one of the hotspots f...
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
  • Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemNOTCH1 t(7;9)(NOTCH1:M1580_K2555) mutant is expressed in a small subset of T-cell acute lymphoblastic leukemia (T-ALL) patients. This mutant protein results from a translocation that joins a portion ...
  • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystem (from REACTOME)
    NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystemSimilar to NOTCH1, NOTCH2 is activated by Delta-like and Jagged ligands (DLL/JAG) expressed in trans on a neighboring cell (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch signaling, organism-specific biosystem (from KEGG)
    Notch signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Notch signaling, conserved biosystem (from KEGG)
    Notch signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Notch signaling pathway, organism-specific biosystem (from KEGG)
    Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Notch signaling pathway, organism-specific biosystem
    Notch signaling pathway
  • Notch signaling pathway, conserved biosystem (from KEGG)
    Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
    Presenilin action in Notch and Wnt signaling, organism-specific biosystem
    Presenilin action in Notch and Wnt signaling
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
  • Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystemNOTCH1 heterodimerization domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL) (Weng et al. 2004) and result in constitutive activity of NOTCH1 mutants (Malecki et al....
  • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
  • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
  • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
  • Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The tran...
  • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...
  • Signaling by NOTCH3, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH3, organism-specific biosystemSimilar to NOTCH1, NOTCH3 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH3, first by ADAM10 at the S2 cleav...
  • Signaling by NOTCH4, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH4, organism-specific biosystemSimilar to NOTCH1, NOTCH4 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH4, first by ADAM10 at the S2 cleav...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Notch binding IPI
Inferred from Physical Interaction
more info
PubMed 
Tat protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scaffold protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Notch receptor processing TAS
Traceable Author Statement
more info
 
Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Notch signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
Notch signaling pathway involved in arterial endothelial cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
astrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation TAS
Traceable Author Statement
more info
PubMed 
cell fate determination NAS
Non-traceable Author Statement
more info
PubMed 
cerebellar Purkinje cell layer structural organization ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebellar molecular layer formation ISS
Inferred from Sequence or Structural Similarity
more info
 
clathrin-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
compartment pattern specification IEA
Inferred from Electronic Annotation
more info
 
determination of left/right symmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial tip cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
hemopoiesis NAS
Non-traceable Author Statement
more info
PubMed 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
lateral inhibition ISS
Inferred from Sequence or Structural Similarity
more info
 
left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
loop of Henle development IEA
Inferred from Electronic Annotation
more info
 
marginal zone B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epidermal cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of glial cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of interleukin-10 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
nephron development ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal stem cell population maintenance IEP
Inferred from Expression Pattern
more info
PubMed 
neuronal stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
organ growth ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of skeletal muscle tissue growth ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
proximal tubule development IEA
Inferred from Electronic Annotation
more info
 
proximal/distal pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell adhesion TAS
Traceable Author Statement
more info
PubMed 
regulation of cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of energy homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of growth ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of skeletal muscle tissue growth ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of somitogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of vascular endothelial growth factor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
retina development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
retina morphogenesis in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle tissue growth ISS
Inferred from Sequence or Structural Similarity
more info
 
skin epidermis development ISS
Inferred from Sequence or Structural Similarity
more info
 
somite specification IEA
Inferred from Electronic Annotation
more info
 
somitogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord development ISS
Inferred from Sequence or Structural Similarity
more info
 
type B pancreatic cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
delta-like protein 1
Names
H-Delta-1
drosophila Delta homolog 1

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

  1. NG_027940.1 RefSeqGene

    Range
    5001..13404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_005609.3

    Status: REVIEWED

    Source sequence(s)
    AY358892, DA243552, DR000029
    Consensus CDS
    CCDS5313.1
    UniProtKB/Swiss-Prot
    O00548
    Related
    ENSP00000355718, OTTHUMP00000017690, ENST00000366756, OTTHUMT00000043254
    Conserved Domains (3) summary
    pfam01414
    Location:159221
    DSL; Delta serrate ligand
    cd00054
    Location:329364
    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:2195
    MNNL; N terminus of Notch ligand

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    170282200..170306555 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535758.1XP_011534060.1  

    See identical proteins and their annotated locations for XP_011534060.1

    UniProtKB/Swiss-Prot
    O00548
    Conserved Domains (3) summary
    pfam01414
    Location:159221
    DSL; Delta serrate ligand
    cd00054
    Location:329364
    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:2195
    MNNL; N terminus of Notch ligand
  2. XM_005266934.2XP_005266991.1  

    See identical proteins and their annotated locations for XP_005266991.1

    Conserved Domains (3) summary
    pfam01414
    Location:159221
    DSL; Delta serrate ligand
    cd00054
    Location:329364
    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:2195
    MNNL; N terminus of Notch ligand

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187553.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    9438..33793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011546480.1XP_011544782.1  

    See identical proteins and their annotated locations for XP_011544782.1

    UniProtKB/Swiss-Prot
    O00548
    Conserved Domains (3) summary
    pfam01414
    Location:159221
    DSL; Delta serrate ligand
    cd00054
    Location:329364
    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:2195
    MNNL; N terminus of Notch ligand
  2. XM_006725014.2XP_006725077.1  

    See identical proteins and their annotated locations for XP_006725077.1

    Conserved Domains (3) summary
    pfam01414
    Location:159221
    DSL; Delta serrate ligand
    cd00054
    Location:329364
    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:2195
    MNNL; N terminus of Notch ligand

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    170851870..170860273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)