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

Gene ID: 10683, updated on 13-Mar-2020

Summary

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
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]
Expression
Restricted expression toward brain (RPKM 16.1) See more
Orthologs

Genomic context

See DLL3 in Genome Data Viewer
Location:
19q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (39498947..39508469)
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 small nucleolar RNA, C/D box 175 Neighboring gene translocase of inner mitochondrial membrane 50 Neighboring gene selenoprotein V Neighboring gene EP300 interacting inhibitor of differentiation 2B

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?

Pathways from PubChem

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Notch binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
compartment pattern specification IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
delta-like protein 3
Names
delta-like 3
delta3
drosophila Delta homolog 3

NCBI Reference Sequences (RefSeq)

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
    5031..14553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016941.4NP_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)
    BC000218, DB035825
    Consensus CDS
    CCDS12538.1
    UniProtKB/Swiss-Prot
    Q9NYJ7
    Related
    ENSP00000205143.3, ENST00000205143.4
    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_203486.3NP_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, ENST00000356433.10
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    39498947..39508469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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