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Description for Protein EFEMP1

EGF-containing fibulin-like extracellular matrix protein 1
7 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • EGFCA: Calcium-binding EGF-like domain
  • EGFL: EGF domain, unclasssified subfamily
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    EGF containing fibulin like extracellular matrix protein 1; FBNL; FBNL3; Fibrillin like protein; Extracellular protein S1-5; DHRD; S1-5; FIBL-3; DRAD; MLVT; EGF-containing fibulin-like extracellular matrix protein 1 precursor
    Approved Symbol:
    EFEMP1
    (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):

    None Available

    Associated Genetic Diseases:

  • Malattia leventinese(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03331 Entrez Gene ID: 2202 OMIM ID: 601548 Swissprot Accession: Q12805;