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

Gene ID: 10085, updated on 26-May-2016
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 HPRD:09350; MIM:606018; Vega:OTTHUMG00000119047
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]
Orthologs
Location:
5q14
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (83940595..84384867, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (83236414..83680685, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L13a pseudogene 14 Neighboring gene zona pellucida glycoprotein 3 (sperm receptor) pseudogene Neighboring gene uncharacterized LOC105379058 Neighboring gene uncharacterized LOC105379057 Neighboring gene uncharacterized LOC105379056 Neighboring gene uncharacterized LOC105379059

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

Markers

Homology

Clone Names

  • FLJ50929, MGC26287

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicle IDA
Inferred from Direct Assay
more info
PubMed 
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

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, OTTHUMP00000222402, ENST00000380138, OTTHUMT00000369774
    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_005711.4NP_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)
    AC093296, BC030828, BQ101116, ES308783, U70312
    Consensus CDS
    CCDS4062.1
    UniProtKB/Swiss-Prot
    O43854
    Related
    ENSP00000296591, OTTHUMP00000147588, ENST00000296591, OTTHUMT00000239258
    Conserved Domains (2) summary
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    83940595..84384867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543089.1XP_011541391.1  

    Conserved Domains (1) summary
    cd00057
    Location:98252
    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. XM_011543088.1XP_011541390.1  

    Conserved Domains (3) summary
    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.
    cl19067
    Location:321379
    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.

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    82669378..83113659 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)