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FLASH GENE
Symbol EMILIN3 contributors: mct - updated : 28-11-2013
HGNC name elastin microfibril interfacer 3
HGNC id 16123
Location 20q12      Physical location : 39.988.605 - 39.995.498
Synonym name
  • elastin microfibril interfacer 5
  • chromosome 20 open reading frame 130
  • elastin microfibril interface located protein-5
  • Synonym symbol(s) EMILIN5, C20orf130
    DNA
    TYPE functioning gene
    STRUCTURE 6.89 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3827 - 766 - 2004 14706625
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus     Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text perichondrium cells of developing limbs
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a characteristic N-terminal cysteine-rich EMI domain , spanning &
  • 8764;80 amino acids and characterized by the presence of highly conserved cysteine residues located at regular positions
  • lacking the gC1q domain in its C-terminal region
  • HOMOLOGY
    Homologene
    FAMILY (EMILIN)/Multimerin family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • playing a significant role in the process of osteogenesis and in skeletal development
  • might play important roles in carcinogenesis of esophageal cancer
  • may potentially participate in the modulation in the extracellular space of the availability and distribution of other secreted factors known to be regulated by heparan sulfate proteoglycans
  • EMILIN3 modulates the availability of HH ligands by interacting with the permissive factor SCUBE2 in the notochord sheath
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component forms disulfide-bonded homotrimers and higher order oligomers
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds heparin with high affinity and that this binding is mediated by the EMI domain (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS