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

Gene ID: 10683, updated on 17-May-2016
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 HPRD:04140; 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
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...

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, OTTHUMP00000270793, ENST00000205143, OTTHUMT00000464958
    Conserved Domains (3) 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 ...
    pfam07657
    Location:2695
    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, OTTHUMP00000270791, ENST00000356433, OTTHUMT00000464955
    Conserved Domains (3) 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 ...
    pfam07657
    Location:2695
    MNNL; N terminus of Notch ligand
    cl19567
    Location:158248
    DSL; Delta serrate 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_000019.10 Reference GRCh38.p2 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)