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Edil3 EGF-like repeats and discoidin I-like domains 3 [ Mus musculus (house mouse) ]

Gene ID: 13612, updated on 28-May-2024

Summary

Official Symbol
Edil3provided by MGI
Official Full Name
EGF-like repeats and discoidin I-like domains 3provided by MGI
Primary source
MGI:MGI:1329025
See related
Ensembl:ENSMUSG00000034488 AllianceGenome:MGI:1329025
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Del1; Del-1; Sox2Cre; Sox2-cre; Tg(Sox2-cre)1Amc
Summary
Predicted to enable calcium ion binding activity. Acts upstream of or within positive regulation of cell-substrate adhesion. Predicted to be located in extracellular region. Is expressed in several structures, including cartilage; heart; pinna; skeletal system; and trachea. Orthologous to human EDIL3 (EGF like repeats and discoidin domains 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 12.8), cerebellum adult (RPKM 11.2) and 8 other tissues See more
Orthologs
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Genomic context

See Edil3 in Genome Data Viewer
Location:
13 C3; 13 45.3 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (88969591..89471344)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (88821472..89323225)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_35219 Neighboring gene predicted gene, 19139 Neighboring gene predicted gene, 34585 Neighboring gene enolase 2, gamma neuronal pseudogene Neighboring gene STARR-seq mESC enhancer starr_35220 Neighboring gene STARR-seq mESC enhancer starr_35221 Neighboring gene predicted gene, 38504 Neighboring gene stomatin (Epb7.2)-like 2 pseudogene Neighboring gene predicted gene, 46433 Neighboring gene STARR-seq mESC enhancer starr_35222 Neighboring gene STARR-positive B cell enhancer mm9_chr13:89593474-89593775 Neighboring gene predicted gene, 34699 Neighboring gene hyaluronan and proteoglycan link protein 1 Neighboring gene acylglycerol kinase pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
EGF-like repeat and discoidin I-like domain-containing protein 3
Names
developmental endothelial locus-1
developmentally-regulated endothelial cell locus 1 protein
integrin-binding protein DEL1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001037987.4NP_001033076.1  EGF-like repeat and discoidin I-like domain-containing protein 3 isoform a precursor

    See identical proteins and their annotated locations for NP_001033076.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC121916, AC154668, AC161244, CT010458
    Consensus CDS
    CCDS26669.1
    UniProtKB/Swiss-Prot
    O35474, O35475, Q8CBF7
    Related
    ENSMUSP00000080462.7, ENSMUST00000081769.13
    Conserved Domains (4) summary
    smart00231
    Location:157314
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00054
    Location:119155
    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 ...
    cd00057
    Location:160313
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    pfam00008
    Location:2658
    EGF; EGF-like domain
  2. NM_010103.4NP_034233.1  EGF-like repeat and discoidin I-like domain-containing protein 3 isoform b precursor

    See identical proteins and their annotated locations for NP_034233.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) is missing an internal, in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (b) missing a 10 aa protein segment compared to isoform a.
    Source sequence(s)
    AK046885, AK081003, AK139093, BY701378
    Consensus CDS
    CCDS26670.1
    UniProtKB/TrEMBL
    Q8C4U8
    Related
    ENSMUSP00000044652.7, ENSMUST00000043111.7
    Conserved Domains (4) summary
    smart00231
    Location:147304
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00054
    Location:109145
    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 ...
    cd00057
    Location:150303
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    pfam00008
    Location:2658
    EGF; EGF-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    88969591..89471344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)