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    Plp1 proteolipid protein (myelin) 1 [ Mus musculus (house mouse) ]

    Gene ID: 18823, updated on 12-May-2024

    Summary

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    Official Symbol
    Plp1provided by MGI
    Official Full Name
    proteolipid protein (myelin) 1provided by MGI
    Primary source
    MGI:MGI:97623
    See related
    Ensembl:ENSMUSG00000031425 AllianceGenome:MGI:97623
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    jp; Plp; msd; rsh; DM20; jimpy
    Summary
    Predicted to enable identical protein binding activity. Predicted to be a structural constituent of myelin sheath. Involved in positive regulation of gene expression. Acts upstream of or within several processes, including cell maturation; long-chain fatty acid biosynthetic process; and neurogenesis. Located in myelin sheath. Is expressed in several structures, including alimentary system; cardiovascular system; musculature; nervous system; and sensory organ. Used to study Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2. Human ortholog(s) of this gene implicated in Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2. Orthologous to human PLP1 (proteolipid protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cerebellum adult (RPKM 410.7), cortex adult (RPKM 272.7) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X F1; X 59.1 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (135720897..135739331)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (136820148..136838582)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3262 Neighboring gene mortality factor 4 like 2 Neighboring gene STARR-positive B cell enhancer ABC_E11056 Neighboring gene cDNA sequence BC065397 Neighboring gene glycine receptor, alpha 4 subunit Neighboring gene predicted gene, 54085 Neighboring gene STARR-seq mESC enhancer starr_47979 Neighboring gene RAB9B, member RAS oncogene family Neighboring gene predicted gene 15026

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Proteolipid protein 1 is involved in the regulation of intestinal motility and barrier function in the mouse. Woods C, et al. Am J Physiol Gastrointest Liver Physiol, 2023 Feb 1. PMID 36511517
    2. TRPV2: A Key Player in Myelination Disorders of the Central Nervous System. Enrich-Bengoa J, et al. Int J Mol Sci, 2022 Mar 25. PMID 35408977, Free PMC Article
    3. Structural myelin defects are associated with low axonal ATP levels but rapid recovery from energy deprivation in a mouse model of spastic paraplegia. Trevisiol A, et al. PLoS Biol, 2020 Nov. PMID 33196637, Free PMC Article
    4. Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease. Elitt MS, et al. Nature, 2020 Sep. PMID 32610343, Free PMC Article
    5. Maintenance of high proteolipid protein level in adult central nervous system myelin is required to preserve the integrity of myelin and axons. Lüders KA, et al. Glia, 2019 Apr. PMID 30637801

    See all (472) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Microglia-mediated demyelination protects against CD8[+] T cell-driven axon degeneration in mice carrying PLP defects.
      Title: Microglia-mediated demyelination protects against CD8(+) T cell-driven axon degeneration in mice carrying PLP defects.
    2. Proteolipid protein 1 is involved in the regulation of intestinal motility and barrier function in the mouse.
      Title: Proteolipid protein 1 is involved in the regulation of intestinal motility and barrier function in the mouse.
    3. Focused ion beam-scanning electron microscopy links pathological myelin outfoldings to axonal changes in mice lacking Plp1 or Mag.
      Title: Focused ion beam-scanning electron microscopy links pathological myelin outfoldings to axonal changes in mice lacking Plp1 or Mag.
    4. Identifying oligodendrocyte enhancers governing Plp1 expression.
      Title: Identifying oligodendrocyte enhancers governing Plp1 expression.
    5. Identity and lineage fate of proteolipid protein 1 gene (Plp1)-expressing cells in the embryonic murine spinal cord.
      Title: Identity and lineage fate of proteolipid protein 1 gene (Plp1)-expressing cells in the embryonic murine spinal cord.
    6. Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.
      Title: Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.
    7. Young adult Plp1-null mice exhibited subtle but substantial behavioral alterations, indicative of an early impact of mild myelin disruption.
      Title: Mild myelin disruption elicits early alteration in behavior and proliferation in the subventricular zone.
    8. This report the mouse model in which maintenance of high proteolipid protein level in adult central nervous system myelin is required to preserve the integrity of myelin and axons.
      Title: Maintenance of high proteolipid protein level in adult central nervous system myelin is required to preserve the integrity of myelin and axons.
    9. These results suggest that colitis promotes rapid enteric neurogenesis in adult mice and humans through differentiation of Sox2- and PLP1-expressing cells, which represent enteric glia and/or neural progenitors
      Title: Colitis promotes neuronal differentiation of Sox2+ and PLP1+ enteric cells.
    10. This study demonstrated that Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2.
      Title: Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2.
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables structural constituent of myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of myelin sheath ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in AMPA selective glutamate receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within astrocyte development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within axon development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within axon ensheathment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in central nervous system myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within central nervous system myelination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glial cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within long-chain fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within myelination IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within myelination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in myelination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within myelination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of integrin alphav-beta3 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in myelin sheath HDA PubMed 
    is_active_in myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in myelin sheath IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in myelin sheath ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    myelin proteolipid protein
    Names
    lipophilin
    myelin synthesis deficiency
    rump shaker

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001290561.2 → NP_001277490.1  myelin proteolipid protein isoform 2

      See identical proteins and their annotated locations for NP_001277490.1

      Status: VALIDATED

      Source sequence(s)
      AK160872, AL672008, BC027010
      Consensus CDS
      CCDS72436.1
      UniProtKB/Swiss-Prot
      P60202
      UniProtKB/TrEMBL
      Q3UYM8
      Related
      ENSMUSP00000108708.2, ENSMUST00000113085.2
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 238
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    2. NM_001359117.1 → NP_001346046.1  myelin proteolipid protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL671887, AL672008
      Consensus CDS
      CCDS30424.1
      UniProtKB/Swiss-Prot
      P60202, Q9WUS9
      UniProtKB/TrEMBL
      Q3UYM8
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 273
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    3. NM_001359118.1 → NP_001346047.1  myelin proteolipid protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL671887, AL672008
      Consensus CDS
      CCDS72436.1
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 238
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    4. NM_001359119.1 → NP_001346048.1  myelin proteolipid protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL671887, AL672008
      Consensus CDS
      CCDS30424.1
      UniProtKB/Swiss-Prot
      P60202, Q9WUS9
      UniProtKB/TrEMBL
      Q3UYM8
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 273
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    5. NM_001359120.1 → NP_001346049.1  myelin proteolipid protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL671887, AL672008
      Consensus CDS
      CCDS30424.1
      UniProtKB/Swiss-Prot
      P60202, Q9WUS9
      UniProtKB/TrEMBL
      Q3UYM8
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 273
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    6. NM_011123.4 → NP_035253.1  myelin proteolipid protein isoform 1

      See identical proteins and their annotated locations for NP_035253.1

      Status: VALIDATED

      Source sequence(s)
      AK160872, AL672008, BC027010
      Consensus CDS
      CCDS30424.1
      UniProtKB/Swiss-Prot
      P60202, Q9WUS9
      UniProtKB/TrEMBL
      Q3UYM8
      Related
      ENSMUSP00000033800.7, ENSMUST00000033800.13
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 273
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      135720897..135739331
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001290562.1: Suppressed sequence

      Description
      NM_001290562.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60202.2 GenPept UniProtKB/Swiss-Prot:P60202

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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