EDIL3 EGF like repeats and discoidin domains 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EDIL3provided by HGNC
Official Full Name: EGF like repeats and discoidin domains 3provided by HGNC
Primary source: HGNC:HGNC:3173
See related: Ensembl:ENSG00000164176 MIM:606018; AllianceGenome:HGNC:3173
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: DEL1
Summary: The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 53.2), gall bladder (RPKM 22.9) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (83940554..84384880, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (84429063..84873508, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (83236373..83680698, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In silico analysis of DEL-1 and inflammation-related genes in lung squamous cell carcinoma.
Title: In silico analysis of DEL-1 and inflammation-related genes in lung squamous cell carcinoma.
Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.
Title: Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.
Exploration of MELK as a downstream of Del-1 and druggable targets in triple-negative breast cancer.
Title: Exploration of MELK as a downstream of Del-1 and druggable targets in triple-negative breast cancer.
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.
An IL-10/DEL-1 axis supports granulopoiesis and survival from sepsis in early life.
Title: An IL-10/DEL-1 axis supports granulopoiesis and survival from sepsis in early life.
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.
Del-1 in Psoriasis Induced the Expression of alphavbeta3 and alpha5beta1 in Endothelial Cells.
Title: Del-1 in Psoriasis Induced the Expression of αvβ3 and α5β1 in Endothelial Cells.
Obesity and altered angiogenic-related gene expression in endometrial cancer.
Title: Obesity and altered angiogenic-related gene expression in endometrial cancer.
Regulatory role of local tissue signal Del-1 in cancer and inflammation: a review.
Title: Regulatory role of local tissue signal Del-1 in cancer and inflammation: a review.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Chemerin, a novel adipokine in the regulation of angiogenesis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-14406 (e-PCR)
- UniSTS:74010

SHGC-153373 (e-PCR)
- UniSTS:177708

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

D5S450E (e-PCR)
- UniSTS:147511

G10681 (e-PCR)
- UniSTS:54844

D5S2641 (e-PCR)
- UniSTS:55114

D5S1498 (e-PCR)
- UniSTS:36940

SHGC-107388 (e-PCR)
- UniSTS:170328

D5S459 (e-PCR), detects polymorphism
- UniSTS:30830

RH78282 (e-PCR)
- UniSTS:29302

G10695 (e-PCR)
- UniSTS:70017

SHGC-106458 (e-PCR)
- UniSTS:169863

D5S1716 (e-PCR), detects polymorphism
- UniSTS:43179

SHGC-104015 (e-PCR)
- UniSTS:183980

SHGC-142009 (e-PCR)
- UniSTS:171191

RH48797 (e-PCR)
- UniSTS:67529

1404 (e-PCR)
- UniSTS:53744

D5S107 (e-PCR), detects polymorphism
- UniSTS:45567

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables integrin binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell-substrate adhesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular vesicle	HDA more info	PubMed

General protein information

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Preferred Names: EGF-like repeat and discoidin I-like domain-containing protein 3

Names: EGF-like repeats and discoidin I-like domains 3; 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_001278642.1 → NP_001265571.1 EGF-like repeat and discoidin I-like domain-containing protein 3 isoform 2 precursor

See identical proteins and their annotated locations for NP_001265571.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC093296, BC030828, BC053656, BQ101116, DB504385, ES308783

Consensus CDS

CCDS64195.1

UniProtKB/Swiss-Prot

O43854

Related

ENSP00000369483.3, ENST00000380138.3

Conserved Domains (2) summary

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.
NM_005711.5 → NP_005702.3 EGF-like repeat and discoidin I-like domain-containing protein 3 isoform 1 precursor

See identical proteins and their annotated locations for NP_005702.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC026440, AC093296, BC030828, BQ101116, ES308783, U70312

Consensus CDS

CCDS4062.1

UniProtKB/Swiss-Prot

B2R763, O43854, O43855, Q5D094, Q8N610

Related

ENSP00000296591.4, ENST00000296591.10

Conserved Domains (3) 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.