Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ELN contributors: mct - updated : 22-09-2017
HGNC name elastin
HGNC id 3327
Corresponding disease
ADCL1 cutis laxa autosomal dominant 1 (elastin reduced expression)
SVAS supravalvular aortic stenosis
WBS Williams Beuren syndrome
Location 7q11.23      Physical location : 73.442.426 - 73.484.234
Synonym name
  • Williams syndrome region
  • tropoelastin
  • Synonym symbol(s) ELS, FLJ43523, FLJ38671, WS
    DNA
    TYPE functioning gene
    STRUCTURE 42.14 kb     33 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   enhancer
    text structure
  • a role for the 5' end of the first exon of the elastin gene in regulating strong transcriptional activity in elastogenic cells
  • MAPPING cloned Y linked Y status confirmed
    Map cen - D7S672 - D7S653 - D7S489 - HIP1 - ELN - D7S1870 - D7S669 - D7S675 - qter
    Text see WBS1
    Physical map
    POM121 7q11.23 POM121 membrane glycoprotein (rat) WBSCR20C 7q11.23 POM121 membrane glycoprotein (rat) TRIM50C 7 tripartite motif-containing 50C LOC389516 7 hypothetical gene supported by BC002581; NM_012447 LOC389517 7 similar to Williams Beuren syndrome chromosome region 19 GTF2IP1 7q11.23 general transcription factor II, i, pseudogene 1 LOC389518 7 similar to Neutrophil cytosolic factor 1 LOC389519 7 similar to transcription factor GTF2IRD2 LOC389520 7 similar to Nuclear envelope pore membrane protein POM 121 (Pore membrane protein of 121 kDa) (P145) WBSCR20A 7q11.23 Williams Beuren syndrome chromosome region 20A TRIM50A 7q11.23 tripartite motif-containing 50A FKBP6 7q11.23 FK506 binding protein 6, 36kDa FZD9 7q11.23 frizzled homolog 9 (Drosophila) BAZ1B 7q11.23 bromodomain adjacent to zinc finger domain, 1B BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2 GTF2IRD1 7q11.23 GTF2I repeat domain containing 1 LOC389521 7 LOC389521 WBSCR23 7q11.23 Williams-Beuren syndrome chromosome region 23 GTF2I 7q11.23 general transcription factor II, i GTF2IRD2 7q11.23 transcription factor GTF2IRD2 LOC389522 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PMS2L5 7q11-q22 postmeiotic segregation increased 2-like 5 LOC389523 7 similar to opposite strand transcription unit to Stag3; Gats protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    33 - 3480 62 724 - 2007 17227755
    30 - 3339 58 677 - 2007 17227755
    31 - 3384 59 692 - 2007 17227755
    32 - 3441 61 711 - 2007 17227755
    32 - 3423 - 705 - 2007 17227755
    34 - 3967 - 786 - 2007 17227755
    33 - 3807 - 730 - 2007 17227755
    32 - 3735 - 706 - 2007 17227755
    29 - 3591 - 658 - 2007 17227755
    29 - 3546 - 643 - 2007 17227755
    31 - 3717 - 700 - 2007 17227755
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
    Nervousbrain   moderately
    Reproductivefemale systemplacenta  highly
    Respiratorylung   moderately
     respiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Lymphoid    
    Muscularsmooth   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text postnatal, during third trimester of fetal development and early postnatal years
    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