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FLASH GENE
Symbol EMILIN1 contributors: mct - updated : 13-12-2022
HGNC name elastin microfibril interfacer 1
HGNC id 19880
Corresponding disease
DHMN10 neuronopathy, distal hereditary motor, type X
VGTAO vasculopathy with generalized tortuosity, aneurysm and osteopenia
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, HMN10
    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
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3890 106.56 1016 - 2000 10625608
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Hearing/EquilibriumearinnercochleaCorti  Homo sapiens
    Respiratorylung    
    Skin/Tegumentskin    
    Urinarykidneynephronrenal capsuleglomerulus 
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Connectivecartilage   
    Connectivecartilageelastic  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal cysteine-rich EMI domain, with four heptad repeats
  • a long segment with high probabilty for coiled-coil structure formation
  • a short collagenous stalk
  • eight potential N glycosylation sites
  • a C-terminal gC1q domain
  • 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 extracellular
        intracellular
    intracellular,cytoplasm
    text
  • extracellular matrix
  • localizes to the interface between the fibrillin microfibril scaffold and the elastin core
  • extracellular matrix glycoprotein
  • 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
  • neutrophil elastase cleaved EMILIN1 in three/four major fragments, causing the impairment of its anti-proliferative role
  • potential involvement of EMILIN1, EMILIN2 in fibrillin-related skin disorders
  • is associated with elastin in the extracellular matrix (ECM) of arteries, lymph vasculature, and other tissues
  • EMILIN1 induces anti-tumor effects by up-regulating TSPAN9 expression in gastric cancer
  • potential role of EMILIN1 in the pathogenesis of diseases affecting the peripheral nervous system
  • EMILIN1, EMILIN2, and EMILIN3 are microfibril-associated glycoproteins known to modulate cell behaviour, growth factor activity, and ECM assembly
  • role of EMILINs in dentinogenesis, pulp biology, and inflammation
  • EMILIN1 has intrinsic tumor and metastasis suppressive-like properties reducing effective migration, cell viability, primary tumor growth, and metastasis
  • EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis
  • potential role in endochondral bone growth
  • CELLULAR PROCESS protein
    cell organization/biogenesis
    cell migration & motility
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • molecular pathway linking CNGA3, its binding partner EMILIN1 and PDE6C, which is potentially replicated in cochlear outer hair cells, given stereociliary immunolocalizations of CNGA3, EMILIN1 and PDE6C
  • 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
  • EMILIN1 produced by vascular smooth muscle cells acts as a main regulator of resting Blood Pressure levels by controlling the myogenic response in resistance arteries through TGFB1
  • peculiar activity of ELANE in disabling EMILIN1 suppressor function
  • head-to-tail interaction between C-terminal and N-terminal domains of EMILIN1 and/or EMILIN2 but also by tail-to-tail interaction between gC1q domains
  • EMILIN1 may attenuate the effects of EMILIN2 on platelet aggregation and thrombosis
  • specific roles of EMILIN1 and TGFB1 in blood pressure regulation, their synergistic interaction, and in particular the role of TGFB1 (in conjunction with ECM proteins) in other disease states altering cardiovascular homeostasis
  • EMILIN1 can synergistically boost the tumor suppressive effect of TSPAN9, which may be produced by promoting TSPAN9 expression
  • EMILIN1 interacts directly with EFEMP2 (also known as fibulin-4) and is required for proper extracellular matrix (ECM) deposition of EFEMP2
  • EMILIN1 not only assists in EFEMP2 and tropoelastin deposition onto the fibrillin microfibril (FMF) scaffold during elastogenesis, but also targets LOX via EFEMP2 to collagen fibers in order to establish critical collagen crosslinks
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DHMN10 , VGTAO
    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
    SystemTypeDisorderPubmed
    cancerdigestivestomach
    membrane proteins TSPAN9 and EMILIN1 may represent novel therapeutic targets for the treatment of gastric cancer
    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
  • Genetic ablation of Emilin1 in mice causes elastic fiber defects in aorta and skin resulting in vascular abnormalities such as increased blood pressure, increased peripheral vascular resistance, and reduced vessel size
  • genetic ablation of Emilin1 in mice causes elastic fiber defects in aorta and skin resulting in vascular abnormalities such as increased blood pressure, increased peripheral vascular resistance, and reduced vessel size