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FLASH GENE
Symbol ELN contributors: mct - updated : 22-09-2017
HGNC name elastin
HGNC id 3327
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • role of the Asp-72 site in stabilizing the N-terminal segment of ELN and the importance of this region in facilitating elastic fiber assembly
  • elastic N-terminal coil region and a cell-interactive C-terminal foot region linked together by a highly exposed bridge region
  • seven transmembrane segments
  • C-terminus having sequences that define both cell and matrix interactions, and also plays a critical but unknown role in the assembly and crosslinking of tropoelastin during elastic fiber maturation , and critical role of the C-terminal region of tropoelastin in elastic fiber assembly, suggesting tissue-specific differences in the elastin assembly pathway
    • HOMOLOGY
    interspecies homolog to murine Eln
    Homologene
    FAMILY
  • elastin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • extracellular matrix
  • within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus, and in the large arteries
    • basic FUNCTION
  • major structural protein of tissues such as aorta and nuchal ligament
  • stabilizing arterial structure by regulating
  • though present in equal quantities in the old group, becomes dysfunctional with aging
  • proliferation and organization of vascular smooth muscle
  • involved with LIMK1 in the actin polymerization signaling pathway
  • extracellular matrix protein in vertebrates that provides elastic recoil to blood vessels, the lung, and skin
  • having likely an an active role in vascular remodeling
  • protein that provides the unusual properties of extensibility and elastic recoil to tissues
  • is an extracellular matrix protein that assembles into elastic fibers that provide elasticity and strength to vertebrate tissues
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding of ELN fragments to FBLN5 was directly proportional to their propensity to coacervate
  • ability of FKBP10 to modulate the self-assembly of ELN is independent of its enzymatic activity to promote the cis-trans isomerization of proline residues in proteins
    • cell & other
    REGULATION
    Other ELN expression level correlated with poly(A) tail length, suggesting that maintenance of poly(A) tail and deadenylation of ELN mRNA might be general mechanisms involved in the regulation of ELN expression
    ASSOCIATED DISORDERS
    corresponding disease(s) ADCL1 , SVAS , WBS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    contributing to increased proliferation of fetal aortic smooth muscle cells and arterial stenoses (in WBS or SVAS)
    tumoral fusion      
    fused with PAX5 by t(7;9)(q11;p13) translocation in B-cell acute lymphoblastic leukemia (B-ALL) (Bousquet 2007)
    constitutional     --over  
    enhanced alveolar elastin expression in very severe in chronic obstructive pulmonary disease
    constitutional       loss of function
    causes vascular stiffening, a leading risk for hypertension and chronic kidney disease (CKD)
    constitutional       loss of function
    causes augmented AGT -induced vasoconstriction in part through a novel mechanism that facilitates contraction evoked by AGTR2 and altered G protein signaling
    Susceptibility
  • to intracranial aneurysm (IA)
  • to neovascular age-related macular degeneration (AMD)
    • Variant & Polymorphism SNP
  • 3'-UTR G(+659)C SNP has the strongest association to intracranial aneurysm
  • ELN variant INT20 1315T > C is implicated in the development of IA
  • significant association was detected between the rs2301995 SNP and AMD
    • Candidate gene
    Marker
    Therapy target FBLN5 and ELN are potential targets for the regeneration of elastic fibers
    ANIMAL & CELL MODELS
  • murine Eln(-)(/)(-) aorta has a smaller unloaded diameter and thicker wall because of smooth muscle cell overproliferation and has greatly reduced compliance