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

Gene ID: 10085, updated on 5-Sep-2021

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
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
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Genomic context

See EDIL3 in Genome Data Viewer
Location:
5q14.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (83940554..84384880, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (83236373..83680698, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986386 Neighboring gene ZP3 pseudogene 1 Neighboring gene RNA, U6 small nuclear 448, pseudogene Neighboring gene EDIL3 divergent transcript Neighboring gene uncharacterized LOC105379059 Neighboring gene peptidylprolyl isomerase A pseudogene 79

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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
GeneReviews: Not available
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
GeneReviews: Not available
Chemerin, a novel adipokine in the regulation of angiogenesis.
GeneReviews: Not available
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
GeneReviews: Not available
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ50929, MGC26287

General protein information

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)

  1. NM_001278642.1NP_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: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.
  2. NM_005711.5NP_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
    O43854
    Related
    ENSP00000296591.4, ENST00000296591.10
    Conserved Domains (3) 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.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    83940554..84384880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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