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Description for Protein LEMD3

LEM domain containing 3
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. (PubMed Links)
Domains and Motifs:
  • 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:
    Integral inner nuclear membrane protein; MAN1
    Approved Symbol:
    LEMD3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 28
    Human (de-) phosphorylation sites: 28; 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:

  • Buschke-Ollendorff syndrome(Pd);
  • Melorheostosis with osteopoikilosis(Pd);
  • Osteopoikilosis(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 09704 Entrez Gene ID: 23592 OMIM ID: 607844 Swissprot Accession: Q9Y2U8;