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Plp1 Gene Detail
Summary
  • Symbol
    Plp1
  • Name
    proteolipid protein (myelin) 1
  • Synonyms
    DM20, Plp
  • Feature Type
    protein coding gene
  • IDs
    MGI:97623
    NCBI Gene: 18823
  • Gene Overview
    MyGene.info: PLP1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    ChrX:136822671-136839733 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      17063 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 59.10 cM, cytoband F1-F2
  • Mapping Data
    64 experiments
  • Sequence Tags
    DXMit9, DXNds2
Homology
more
  • Human Ortholog
    PLP1, proteolipid protein 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PLP1, proteolipid protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2
  • Links
    NCBI Gene ID: 5354
    neXtProt AC: NX_P60201
    UniProt: P60201

  • Chr Location
    Xq22.2; chrX:103776506-103792619 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with Plp1 mouse models; 2 with human PLP1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 7 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 16 alleles in 29 genetic backgrounds
    49 phenotypes from multigenic genotypes
    1 images
    194 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Males hemizygous for X-linked missense and partially deleted mutations typically exhibit central nervous system demyelination, loss of oligodendrocytes, tremors, convulsions, and lethality, but targeted null mutants are essentially normal and fertile.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    25
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    374
  • Tissues
    205
  • cDNA Data
    75
  • Literature Summary
    113
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000016519 VEGA Gene Model | MGI Sequence Detail 17063 C57BL/6J ±  kb
    transcript OTTMUST00000039923 VEGA | MGI Sequence Detail 4699 Not Applicable  
    polypeptide OTTMUSP00000017800 VEGA | MGI Sequence Detail 277 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      137 from dbSNP Build 142
    • PCR
      5
    • RFLP
      10
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 119
      Genomic 23
      cDNA 78
      Primer pair 13
      Other 5

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11530, MGD-MRK-12562, MGD-MRK-13363, MGD-MRK-14219
    References
    more
    • Summaries
      All 431
      Developmental Gene Expression 113
      Diseases 10
      Gene Ontology 14
      Phenotypes 194
    • Earliest
      J:288 Phillips RJS, Jimpy, a new totally sexlinked gene in the house mouse. Z Indukt Abstamm Vererbungsl. 1954;86(3):322-6
    • Latest
      J:260791 Truch K, et al., Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease. Hum Mol Genet. 2018 Mar 15;27(6):1078-1092
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    07/31/2018
    MGI 6.12     		The Jackson Laboratory