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Description for Protein ELN

elastin
18 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Elastin isoform b; Elastin isoform c; Elastin isoform e; Elastin isoform a; Elastin isoform d; Tropoelastin
    Approved Symbol:
    ELN
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites

    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Rofecoxib(db)


    Associated Genetic Diseases:

  • Cutis laxa, autosomal dominant(Pd);
  • Supravalvular aortic stenosis(Pd)
  • Predicted Transmembrane Domains:
    00556_5(11)
  • Isoform 4 : 5
    00556_3(11)
    00556_2(11)
  • Isoform 1 : 5
  • Additional Identifiers:

    HPRD: 00556 Entrez Gene ID: 2006 OMIM ID: 130160 Swissprot Accession: P15502B3KTS6B3KRT8