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Description for Protein FBN1

fibrillin 1
11 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • EGFCA: Calcium-binding EGF-like domain
  • EGF: Epidermal growth factor-like domain.
  • EGFL: EGF domain, unclasssified subfamily
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06825
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    FBN
    Approved Symbol:
    FBN1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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):

    None Available

    Associated Genetic Diseases:

  • Ectopia lentis, familial(Pd);
  • Marfan syndrome(Pd);
  • Marfan syndrome, atypical(Pd);
  • Marfan syndrome, classic(Pd);
  • Marfan syndrome, mild(Pd);
  • Marfan syndrome, mild variable(Pd);
  • Marfan syndrome, neonatal(Pd);
  • Marfan syndrome, severe classic(Pd);
  • Marfan syndrome, subdiagnostic variant of(Pd);
  • Marfanoid skeletal syndrome(Pd);
  • Mass syndrome(Pd);
  • Shprintzen-goldberg syndrome(Pd);
  • Weill-Marchesani syndrome, autosomal dominant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00618 Entrez Gene ID: 2200 OMIM ID: 134797 Swissprot Accession: D2JYH6; P35555;