Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    DLL3 delta like canonical Notch ligand 3 [ Homo sapiens (human) ]

    Gene ID: 10683, updated on 22-Apr-2017
    Official Symbol
    DLL3provided by HGNC
    Official Full Name
    delta like canonical Notch ligand 3provided by HGNC
    Primary source
    HGNC:HGNC:2909
    See related
    Ensembl:ENSG00000090932 MIM:602768; Vega:OTTHUMG00000183067
    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
    SCDO1
    Summary
    This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    19q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (39498917..39508481)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39989557..39999121)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SPT5 homolog, DSIF elongation factor subunit Neighboring gene translocase of inner mitochondrial membrane 50 Neighboring gene selenoprotein V Neighboring gene EP300 interacting inhibitor of differentiation 2B

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Breast cancer, organism-specific biosystem (from KEGG)
      Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
    • Breast cancer, conserved biosystem (from KEGG)
      Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
    • Canonical and Non-canonical Notch signaling, organism-specific biosystem (from WikiPathways)
      Canonical and Non-canonical Notch signaling, organism-specific biosystemThis pathway is based on figure 1 of "Alteration of Notch signaling in skeletal development and disease" (see bibliography). In the NOTCH signaling pathway, mammals have 11 ligands (JAG, DLL, DLK, et...
    • Endocrine resistance, organism-specific biosystem (from KEGG)
      Endocrine resistance, organism-specific biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
    • Endocrine resistance, conserved biosystem (from KEGG)
      Endocrine resistance, conserved biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
    • NOTCH1 regulation of human endothelial cell calcification, organism-specific biosystem (from WikiPathways)
      NOTCH1 regulation of human endothelial cell calcification, organism-specific biosystemModel of NOTCH1 regulation of human endothelial cell calcification.
    • 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 Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
    • 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...
    • Th1 and Th2 cell differentiation, organism-specific biosystem (from KEGG)
      Th1 and Th2 cell differentiation, organism-specific biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
    • Th1 and Th2 cell differentiation, conserved biosystem (from KEGG)
      Th1 and Th2 cell differentiation, conserved biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Notch binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    compartment pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    paraxial mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    delta-like protein 3
    Names
    delta-like 3
    delta3
    drosophila Delta homolog 3

    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_008256.1 RefSeqGene

      Range
      5001..14565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016941.3NP_058637.1  delta-like protein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_058637.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA865362, BC000218, DB035825
      Consensus CDS
      CCDS12538.1
      UniProtKB/Swiss-Prot
      Q9NYJ7
      Related
      ENSP00000205143.3, OTTHUMP00000270793, ENST00000205143.4, OTTHUMT00000464958
      Conserved Domains (4) summary
      cd00054
      Location:279310
      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 ...
      pfam00008
      Location:316349
      EGF; EGF-like domain
      pfam07657
      Location:2784
      MNNL; N terminus of Notch ligand
      cl19567
      Location:158248
      DSL; Delta serrate ligand
    2. NM_203486.2NP_982353.1  delta-like protein 3 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a different splicing pattern at the 3' end compared to transcript variant 1. This results in an isoform (2) with a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AA865362, AK075302, BC000218, DB035825
      Consensus CDS
      CCDS12537.1
      UniProtKB/Swiss-Prot
      Q9NYJ7
      Related
      ENSP00000348810.4, OTTHUMP00000270791, ENST00000356433.9, OTTHUMT00000464955
      Conserved Domains (4) summary
      cd00054
      Location:279310
      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 ...
      pfam00008
      Location:316349
      EGF; EGF-like domain
      pfam07657
      Location:2784
      MNNL; N terminus of Notch ligand
      cl19567
      Location:158248
      DSL; Delta serrate ligand

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      39498917..39508481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      39990197..39999736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center