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Description for Protein PLP1

proteolipid protein 1
5 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 transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • PLP: Myelin proteolipid protein (PLP or lipophilin)
  • SP: Signal Peptide

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Proteolipid protein 1; Lipophilin; Proteolipid protein 1 isoform 2; Proteolipid protein 1 isoform 1; Major myelin proteolipid; PLP/DM20; SPG2; MMPL; PMD; PLP
    Approved Symbol:
    PLP1
    (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):

    None Available


    Associated Genetic Diseases:

  • Pelizaeus-Merzbacher disease(Pd);
  • Pelizaeus-Merzbacher disease, atypical(Pd);
  • Pelizaeus-Merzbacher disease, connatal(Pd);
  • Pelizaeus-Merzbacher disease, mild(Pd);
  • Spastic paraplegia 2(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 3 : 4
  • Isoform 2 : 4
  • Isoform 1 : 4
  • Additional Identifiers:

    HPRD: 02321 Entrez Gene ID: 5354 OMIM ID: 300401 Swissprot Accession: P60201A8K9L3