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Description for Protein LEPRE1

leucine proline-enriched proteoglycan (leprecan) 1
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 6)
Summary:
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Two alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • P4HC: Prolyl 4-hydroxylase alpha subunit homologues.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08134
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Leucine proline enriched proteoglycan (leprecan) 1; GROS1; Hypothetical protein FLJ14742; P3H1; Growth suppressor 1
    Approved Symbol:
    LEPRE1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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):

  • L-Proline(db);
  • Succinic acid(db);
  • Vitamin C(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 11227 Entrez Gene ID: 64175 OMIM ID: 610339 Swissprot Accession: Q32P28;