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Symbol PLP1 contributors: mct - updated : 20-01-2015
HGNC name proteolipid protein 1
HGNC id 9086
Corresponding disease
PMDX Pelizaeus-Merzbacher disease, type 1
SPG2 spastic paraplegia 2
Location Xq22.2      Physical location : 103.031.438 - 103.047.545
Synonym name
  • lipophilin
  • major myelin proteolipid protein
  • Synonym symbol(s) PLP, PMD, SPG2, PLP/DM20
    TYPE functioning gene
    STRUCTURE 16.11 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • promoter is responsible for driving expression of one of the major components of myelin--PLP and its splice variant DM-20 (
  • PLP1promoter activity is not restricted to the myelinating cell lineage, but rather, has widespread activity both during embryonic and early postnatal development in the CNS (
  • MAPPING cloned Y linked Y status confirmed
    Map see DXS178
    Physical map
    TMSNB Xq21.33-q22.3 thymosin, beta, identified in neuroblastoma cells LOC139707 Xq22.1 similar to checkpoint suppressor 1 NXF4 Xq22 nuclear RNA export factor 4 FLJ12969 Xq22.1-q22.3 hypothetical protein FLJ12969 GASP Xq22.1 G protein-coupled receptor-associated sorting protein LOC114928 Xq22.1 hypothetical protein BC013576 KIAA1701 Xq23 KIAA1701 protein MTND2P2 Xq22.2 NADH dehydrogenase 2 pseudogene 2 LOC286526 Xq22.2 Ras-like GTPase-like BEX1 Xq21-q23 brain expressed, X-linked 1 NXF3 Xq22-q23 nuclear RNA export factor 3 FLJ10097 Xq22.1-q22.3 hypothetical protein FLJ10097 MGC45400 Xq22.2 hypothetical protein MGC45400 LOC340543 Xq22.2 similar to hypothetical protein MGC15737 DJ79P11.1 Xq22 X-linked protein MGC23947 Xq22.1 hypothetical protein MGC23947 LOC51186 Xq22.2 pp21 homolog NGFRAP1 Xq22.1 nerve growth factor receptor (TNFRSF16) associated protein 1 RAB40A Xq22.1 RAB40A, member RAS oncogene family FLJ21174 Xq22.2 hypothetical protein FLJ21174 MGC15737 Xq22.2 hypothetical protein MGC15737 TCEAL1 Xq22.1 transcription elongation factor A (SII)-like 1 LOC139779 Xq22.2 similar to hypothetical protein FLJ38101 MORF4L2 Xq22 mortality factor 4 like 2 MGC39655 Xq22.2 hypothetical protein MGC39655 PLP1 Xq22.2 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) RAB9B Xq22.1-q22.3 RAB9B, member RAS oncogene family LOC347393 Xq22.2 similar to bA370B6.1 (similar to histone H2B) LOC170242 Xq22.2 similar to mitochondrial carrier triple repeat 1 MGC39900 Xq22.2 hypothetical protein MGC39900 LOC158983 Xq22.2 hypothetical protein LOC158983 LOC286436 Xq22.2 hypothetical protein LOC286436 LOC392512 X similar to histone H2B-related protein LOC392513 X similar to mitochondrial carrier triple repeat 1 LOC392514 X similar to cU46H11.1 (novel protein) LOC139231 Xq22.2 hypothetical protein BC016683 ESX1L Xq22.1-q22.3 extraembryonic, spermatogenesis, homeobox 1-like LOC392515 X similar to prohibitin
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 2933 - 242 express predominantly in oligodendrocytes 2011 21572962
  • also called DM20
  • deletion of part of exon 3
  • DM20 is found mainly as a monomer
  • presence of a 35 AA sequence within the intracellular loop of PLP that is absent in DM20
  • 7 splicing 3038 - 277 - 2006 16774974
  • also called PLP
  • exists as both a monomer and a disulfide-linked dimer
  • presence of a 35 AA sequence within the intracellular loop of PLP that is absent in DM20
  • 8 - 3148 - 277 - 2006 16774974
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  moderately
    Nervousbrain   highly Homo sapiens
    Reproductivemale systemtestis  moderately Homo sapiens
    Skin/Tegumentskin   moderately
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentralwhite matter   Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    Nervousoligodendrocyte Homo sapiens
    ReproductiveLeydig cell Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • 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
    interspecies homolog to murine Plp
  • myelin proteolipid protein family
  • tetraspan membrane protein family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
  • 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
    signaling sensory transduction/vision
    a component
    small molecule
  • 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
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • 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