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FLASH GENE
Symbol EDIL3 contributors: mct/npt - updated : 11-04-1201
HGNC name EGF-like repeats and discoidin I-like domains 3
HGNC id 3173
Location 5q14.3      Physical location : 83.238.125 - 83.680.611
Synonym name
  • development endothelial locus 1
  • developmentally-regulated endothelial cell locus 1 protein
  • integrin-binding protein DEL1
  • Synonym symbol(s) DEL1, MGC26287
    DNA
    TYPE functioning gene
    STRUCTURE 442.50 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    ZFYVE16 5p15.2-q14.3 zinc finger, FYVE domain containing 16 LOC167555 5q14.1 similar to AASA9217 LOC340120 5q14.1 similar to RIKEN cDNA 6430502M16 gene LOC389306 5 LOC389306 DBIL1 5pter-p15.32 diazepam binding inhibitor-like 1 DHFR 5q13.2 dihydrofolate reductase MSH3 5q11-q12 mutS homolog 3 (E. coli) RASGRF2 5q13 Ras protein-specific guanine nucleotide-releasing factor 2 CKMT2 5q13.3 creatine kinase, mitochondrial 2 (sarcomeric) DKFZp761J139 5q14.1 hypothetical protein DKFZp761J139 CACH-1 5q14.1 cytosolic acetyl-CoA hydrolase SSBP2 5q14.1 single-stranded DNA binding protein 2 DSS1P1 5q14 single-stranded DNA binding protein 2 APG10L 5q14.1 APG10 autophagy 10-like (S. cerevisiae) PPIP1 5q14.1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 RPS23 5q13-q14 ribosomal protein S23 LOC92270 5q14.1 hypothetical protein LOC92270 LOC389307 5 LOC389307 LOC391806 5 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein MGC23909 5q14.2 hypothetical protein MGC23909 XRCC4 5q11.2-q13.3 X-ray repair complementing defective repair in Chinese hamster cells 4 CSPG2 5q14.3 chondroitin sulfate proteoglycan 2 (versican) CRTL1 5q14.3 cartilage linking protein 1 EDIL3 5q14 EGF-like repeats and discoidin I-like domains 3 LOC391807 5 similar to peptidyl-Pro cis trans isomerase LOC391808 5 similar to ribosomal protein L5; 60S ribosomal protein L5 LOC391809 5 similar to 28 kDa heat- and acid-stable phosphoprotein (PDGF-associated protein) (PAP) (PDGFA-associated protein 1) (PAP1) MGC48637 5q14.3 hypothetical protein MGC48637 COX7C 5q14 cytochrome c oxidase subunit VIIc LOC389308 5 similar to ribosomal protein L10a FLJ11292 5q14.3 hypothetical protein FLJ11292 RASA1 5q13.3 RAS p21 protein activator (GTPase activating protein) 1 CCNH 5q13.3-q14 cyclin H
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2974 53.6 480 - Aoka (2002)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Skeletonappendicularjoint   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    cell lineage initially, in the endothelial progenitor
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text mesenchymal cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three epidermal growth factor repeats (E1-E3) at its N-terminus
  • a RGD motif
  • two discoidin domains (C1, C2) at its C-terminus, contributing to its deposition in the extracellular matrix (Hidai 2007)
  • a Del1 deposition domain (DDD), that could immobilize an enzyme in the ECM without interfering with function (Hidai 2009)
  • HOMOLOGY
    interspecies homolog to murine Del1
    Homologene
    FAMILY
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
    text
  • in the extracellular matrix (Hidai 2007)
  • organized in the extracellular matrix (ECM) via the Del1 deposition domain (DDD) (Hidai 2009)
  • basic FUNCTION
  • promoting the adhesion of endothelial cells through interaction with the AVB3 integrin receptor
  • putative regulator of vascular morphogenesis or remodeling in embryonic development
  • mediates cell attachment, migration, and activation of cytoplasmic signaling molecules in focal contacts (Aoka 2002)
  • acts as an angiogenic factor in the context of solid tumor formation and this increase in vascularization accelerates tumor growth through decreased apoptosis (Aoka 2002)
  • endogenous inhibitor of inflammatory cell recruitment that could provide a basis for targeting leukocyte-endothelial interactions in disease (Choi 2008)
  • may induce apoptosis via its epidermal growth factor motif (Kitano 2010)
  • EDIL3, AMOT and ECM1 are involved in the excessive angiogenesis and vasodilation observed in psoriasis
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • unique alpha V beta 3 integrin ligand that is produced by endothelial cells, and thus provides an autocrine signaling pathway in this cell type (Aoka 2002), and play an important role in the process of tumor cells moving from the original place (Niu 2007)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   amplification    
    recurring copy-number variants in congenital heart disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS