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FLASH GENE
Symbol PLP1 contributors: mct - updated : 20-01-2015
HGNC name proteolipid protein 1
HGNC id 9086
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • hydrophobic membrane protein with four putative membrane spanning domains (4TM)
  • two extracellular loop regions, EC1 and EC2, that interact with the opposing membrane in myelin
    • HOMOLOGY
    interspecies homolog to murine Plp
    Homologene
    FAMILY
  • myelin proteolipid protein family
  • tetraspan membrane protein family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • VAMP3 and VAMP7 colocalize with the major myelin proteolipid protein (PLP1) in recycling endosomes and late endosomes/lysosomes, respectively
    • basic FUNCTION
  • tetraspanin, major myelin protein from the central nervous system
  • playing an important role in the formation or maintenance of the multilamellar structure of myelin
  • involved in axonal-glial interactions
  • may have functions not only in oligodendrocytes but also in neurons and could be implicated in axono-glial communication
  • inhibits oligodendrocyte precursor cells (OPCs) differentiation and its effect is mediated through the ERK signaling cascade
  • inhibits OPC differentiation through the ERK cascade, possibly leading to dysmyelination
  • while PLP1 can co-exist with MPZ in peripheral nervous system (PNS) myelin, PLP1 cannot replace MPZ as the major structural protein of PNS myelin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • developmental changes in HNRNPH2/HNRNPF associated with oligodendrocytes (OLs) differentiation synergistically regulate PLP1 alternative splicing and a G-rich enhancer participates in the regulation
  • HNRNPH2 and HNRNPF regulate PLP1 splicing by recruiting U1snRNP and HNRNPH2 plays a primary role in PLP1 splice site selection
  • interaction of PLP1 and MAL2 in oligodendrocytic cells
  • interaction with VAMP7 (VAMP7 controls exocytosis of PLP1 from late endosomal/lysosomal organelles as part of a transcytosis pathway)
  • ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (PLP1), atlastin-1 (SPG3A), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PMDX , SPG2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in neuroaxonal injury with neurologic deficit
    constitutional       loss of function
    in axonal degeneration
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • myelin-deficient (MD) rats, which carry a mutation in the Plp gene, exhibit lethal hypoxic ventilatory depression
  • lowering toxic Plp1 overexpression via a progesterone antagonist ameliorates axonal loss and the disease phenotype in Plp1 transgenic mice
  • mice with Plp1 gene duplication model the most common form of Pelizaeus-Merzbacher disease (PMD), a CNS disease in which patients may suffer respiratory complications