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

    Gene ID: 13612, updated on 9-Dec-2024

    Summary

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    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; cerebral cortex; heart; skeletal system; and trachea. Orthologous to human EDIL3 (EGF like repeats and discoidin domains 3). [provided by Alliance of Genome Resources, Dec 2024]
    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

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Cell-Cycle-Dependent ERK Signaling Dynamics Direct Fate Specification in the Mammalian Preimplantation Embryo. Pokrass MJ, et al. Dev Cell, 2020 Nov 9. PMID 33091369, Free PMC Article
    2. Developmental endothelial locus-1 promotes osteogenic differentiation and alveolar bone regeneration in experimental periodontitis with type 2 diabetes mellitus. Ma Q, et al. J Periodontal Res, 2024 Apr. PMID 38102743
    3. Development of the anterior-posterior axis is a self-organizing process in the absence of maternal cues in the mouse embryo. Bedzhov I, et al. Cell Res, 2015 Dec. PMID 26337800, Free PMC Article
    4. DEL-1 deficiency aggravates pressure overload-induced heart failure by promoting neutrophil infiltration and neutrophil extracellular traps formation. Zhao M, et al. Biochem Pharmacol, 2023 Dec. PMID 37956894
    5. The secreted protein DEL-1 activates a β3 integrin-FAK-ERK1/2-RUNX2 pathway and promotes osteogenic differentiation and bone regeneration. Yuh DY, et al. J Biol Chem, 2020 May 22. PMID 32280065, Free PMC Article

    See all (597) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Obesity and altered angiogenic-related gene expression in endometrial cancer.
      Title: Obesity and altered angiogenic-related gene expression in endometrial cancer.
    10. 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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion 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)

    1. 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

    2. 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

    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)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O35474.2 GenPept UniProtKB/Swiss-Prot:O35474

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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