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FLASH GENE
Symbol EMILIN1 contributors: mct - updated : 11-12-2014
HGNC name elastin microfibril interfacer 1
HGNC id 19880
Location 2p23.3      Physical location : 27.301.434 - 27.309.263
Synonym name
  • TNF elastin microfibril interface located protein
  • elastin microfibril interface located protein
  • Synonym symbol(s) EMILIN, GP115, DKFZp586M121, EMI
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping, gene in gene
    STRUCTURE 7.77 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure overlapping by its 3' end with the 5' end promoter of the ketokinase gene (KHK) )
    MAPPING cloned Y linked N status confirmed
    Physical map
    KCNK3 2p24.1-p23.1 potassium channel, subfamily K, member 3 FLJ20555 CENPA 2p23.1-p22.3 centromere protein A, 17kDa DPYSL5 2p23-p21 dihydropyrimidinase-like 5 MAPRE3 2p23.3-p23.1 microtubule-associated protein, RP/EB family, member 3 FLJ20254 2p23.3 hypothetical protein FLJ20254 FLJ21839 2p23.3 hypothetical protein FLJ21839 EMILIN1 2p23.3-p23.2 elastin microfibril interfacer 1 KHK 2p23.3-p23.2 ketohexokinase (fructokinase) CGREF1 2p23.3 cell growth regulator with EF hand domain 1 ABHD1 2p23.3 abhydrolase domain containing 1 PREB 2p23 prolactin regulatory element binding MGC44505 2p23.3 hypothetical protein MGC44505 LOC391360 2 similar to class II basic helix-loop-helix protein TCF23 SLC5A6 2p23 solute carrier family 5 (sodium-dependent vitamin transporter), member 6 APR-3 2p23.3 solute carrier family 5 (sodium-dependent vitamin transporter), member 6 CAD 2p22-p21 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase SLC30A3 2p23.3 solute carrier family 30 (zinc transporter), member 3 FLJ40417 2p23.3 gamma cysteine string protein RNF30 2p23.3 ring finger protein 30 UCN 2p23-p21 urocortin MPV17 2p23 MpV17 transgene, murine homolog, glomerulosclerosis GTF3C2 2p23.3 general transcription factor IIIC, polypeptide 2, beta 110kDa EIF2B4 2p23.3 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa SNX17 2p23-p22 sorting nexin 17 ZNF513 2p23.3 zinc finger protein 513 PPM1G 2p33.3 protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3959 106.56 1016 - 2000 10625608
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Respiratorylung    
    Skin/Tegumentskin    
    Urinarykidneynephronrenal capsuleglomerulus 
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Connectivecartilage   
    Connectivecartilageelastic  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C1q-like globular domain at the C terminus a short collagenous stalk
  • a region with two leucine zippers (EMI domain)
  • a region with four heptad repeats, with a high potential to form coiled-coil alpha helices
  • C-terminal domain essential for the formation of trimers that finally assemble into large EMILIN multimers
  • conjugated GlycoP
    mono polymer homomer , trimer
    isoforms Precursor cysteine-rich sequence at the N terminus
    HOMOLOGY
    interspecies homolog to murine Emilin1
    Homologene
    FAMILY
    CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle
    text extracellular matrix
    basic FUNCTION
  • involved in the process of elastin deposition
  • may regulate elastogenesis and vascular cell maintenance by stabilizing molecular interactions between elastic fiber components and by endowing elastic fibers with specific cell adhesion properties
  • may inhibit TGF-beta signaling by binding specifically to the proTGF-beta precursor and preventing its maturation by furin convertases in the extracellular space
  • promoting cell movement
  • activating ATR which is a crucial steph in the initiation of ATR-dependent signaling processes
  • important roles in regulating blood pressure, homeostasis, cell adhesion and cell migration
  • major stromal element determining human trophoblast invasion of the uterine wall
  • glycoprotein of elastic tissues, involved in the regulation of the growth and in the maintenance of the integrity of lymphatic vessels, a fundamental requirement for efficient function
  • local regulator of lymphangiogenesis
  • implicated in maintaining blood pressure homeostasis via the N-terminal elastin microfibril interface domain and in trophoblast invasion of the uterine wall via the globular C1q (gC1q) domain
  • negative regulator of the transforming growth factor-beta (TGF-beta) signaling, which is involved in blood pressure (BP) homeostasis
  • CELLULAR PROCESS protein
    cell organization/biogenesis
    cell migration & motility
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • EMILIN / multimerin / EMILIN 2
  • homotrimer associated through a moderately stable interaction of the C-terminal globular C1q domains, allowing the nucleation of the triple helix and then a further quaternary assembly to higher order polymers via intermolecular disulfide bonds
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with elastin into multimers
  • EMILIN 2
  • binding to elastin and fibulin-5
  • novel ligand for keratinocyte ITGA9, suggesting prospective roles for this receptor-ligand pair in skin homeostasis
  • peculiar activity of ELANE in disabling EMILIN1 suppressor function
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    caused dermal and epidermal hyperproliferation and accelerated wound closure
    Susceptibility to essential hypertension
    Variant & Polymorphism other frequency of the G-G-T haplotype (established by rs2536512, rs2016116, rs17881426) was significantly higher in essential hypertension
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Homozygous animals for disrupted emilin1 gene were fertile and showed no obvious abnormalities; however, histologic and ultrastructural examination revealed alterations of the elastic fibers in aorta and skin
  • Emilin1 knockout animals display increased blood pressure, increased peripheral vascular resistance, and reduced vessel size