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

    Gene ID: 28514, updated on 5-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DLL1 in Genome Data Viewer
    Location:
    6q27
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (170282206..170291078, complement)
    RS_2023_10 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_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC154449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:170575708-170576284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:170576285-170576861 Neighboring gene uncharacterized LOC285804 Neighboring gene long intergenic non-protein coding RNA 1624 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:170591232-170592431 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:170604755-170605382 Neighboring gene family with sequence similarity 120 member B Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91390 Neighboring gene microRNA 4644 Neighboring gene NANOG hESC enhancer GRCh37_chr6:170664768-170665298 Neighboring gene uncharacterized LOC124901474 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:170695897-170697096

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Notch binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 receptor ligand activity IDA
    Inferred from Direct Assay
    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
     
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    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 inhibition of neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear auditory receptor cell differentiation 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 myeloid cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 hemocyte differentiation IEA
    Inferred from Electronic Annotation
    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 neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    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
     
    acts_upstream_of positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 receptor signaling pathway 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 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
     
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    delta-like protein 1
    Names
    H-Delta-1
    drosophila Delta homolog 1
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4532..13404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005618.4NP_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
      B2RAK7, B5M0B3, O00548, Q9NU41, Q9UJV2
      UniProtKB/TrEMBL
      A0A384P5C6
      Related
      ENSP00000355718.3, ENST00000366756.4
      Conserved Domains (3) summary
      smart00051
      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:2292
      MNNL; N terminus of Notch ligand

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      170282206..170291078 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266934.5XP_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: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 ...
      pfam01414
      Location:159221
      DSL; Delta serrate ligand
      pfam07657
      Location:2291
      MNNL; N terminus of Notch ligand

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187553.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      9444..18316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328684.1XP_054184659.1  delta-like protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      171640900..171649769 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355224.1XP_054211199.1  delta-like protein 1 isoform X1