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

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: human all
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Genomic context

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Developmental endothelial locus-1 promotes osteogenic differentiation and alveolar bone regeneration in experimental periodontitis with type 2 diabetes mellitus.
Title: Developmental endothelial locus-1 promotes osteogenic differentiation and alveolar bone regeneration in experimental periodontitis with type 2 diabetes mellitus.
Epidermal Growth Factor-Like Repeats and Discoidin I-Like Domains 3 Deficiency Attenuates Dilated Cardiomyopathy by Inhibiting Ubiquitin Specific Peptidase 10 Dependent Smad4 Deubiquitination.
Title: Epidermal Growth Factor-Like Repeats and Discoidin I-Like Domains 3 Deficiency Attenuates Dilated Cardiomyopathy by Inhibiting Ubiquitin Specific Peptidase 10 Dependent Smad4 Deubiquitination.
Del-1 Plays a Protective Role against COPD Development by Inhibiting Inflammation and Apoptosis.
Title: Del-1 Plays a Protective Role against COPD Development by Inhibiting Inflammation and Apoptosis.
DEL-1 deficiency aggravates pressure overload-induced heart failure by promoting neutrophil infiltration and neutrophil extracellular traps formation.
Title: DEL-1 deficiency aggravates pressure overload-induced heart failure by promoting neutrophil infiltration and neutrophil extracellular traps formation.
Del1 Is a Growth Factor for Skeletal Progenitor Cells in the Fracture Callus.
Title: Del1 Is a Growth Factor for Skeletal Progenitor Cells in the Fracture Callus.
EDIL3 influenced the alphavbeta3-FAK/MEK/ERK axis of endothelial cells in psoriasis.
Title: EDIL3 influenced the αvβ3-FAK/MEK/ERK axis of endothelial cells in psoriasis.
EDIL3 deficiency ameliorates adverse cardiac remodelling by neutrophil extracellular traps (NET)-mediated macrophage polarization.
Title: EDIL3 deficiency ameliorates adverse cardiac remodelling by neutrophil extracellular traps (NET)-mediated macrophage polarization.
Developmental endothelial locus-1 protects from hypertension-induced cardiovascular remodeling via immunomodulation.
Title: Developmental endothelial locus-1 protects from hypertension-induced cardiovascular remodeling via immunomodulation.
Obesity and altered angiogenic-related gene expression in endometrial cancer.
Title: Obesity and altered angiogenic-related gene expression in endometrial cancer.
Clinically confirmed DEL-1 as a myokine attenuates lipid-induced inflammation and insulin resistance in 3T3-L1 adipocytes via AMPK/HO-1- pathway.
Title: Clinically confirmed DEL-1 as a myokine attenuates lipid-induced inflammation and insulin resistance in 3T3-L1 adipocytes via AMPK/HO-1- pathway.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Variation

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Alleles

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

Transgenic (2) 1 citation
Targeted (1) 1 citation
Endonuclease-mediated (3) 1 citation

General gene information

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Markers

Edil3 (e-PCR), detects polymorphism
- UniSTS:516399

BB096898 (e-PCR)
- UniSTS:208965

Edil3 (e-PCR), detects polymorphism
- UniSTS:536430

Edil3 (e-PCR), detects polymorphism
- UniSTS:499089

px-10_b2 (e-PCR)
- UniSTS:257248

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of cell-substrate adhesion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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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)

NM_001037987.4 → NP_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:157 → 314

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00054
Location:119 → 155

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:160 → 313

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:26 → 58

EGF; EGF-like domain
NM_010103.4 → NP_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:147 → 304

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00054
Location:109 → 145

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:150 → 303

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:26 → 58

EGF; EGF-like domain