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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
  • Transcription Start Sites
    32 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:136822671-136839733 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 59.10 cM, cytoband F1-F2
  • Mapping Data
    64 experiments
  • Sequence Tags
    DXMit9, DXNds2
Strain
Comparison
more
  • SNPs within 2kb
    137 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    5
  • RFLP
    10
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97623
 protein coding gene ChrX:136820148-136839733 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036105
 protein coding gene ChrX:134234645-134251366 (+)
A/J MGP_AJ_G0036086
 protein coding gene ChrX:133631545-133649092 (+)
AKR/J MGP_AKRJ_G0036010
 protein coding gene ChrX:137905102-137925229 (+)
BALB/cJ MGP_BALBcJ_G0036075
 protein coding gene ChrX:132029902-132047621 (+)
C3H/HeJ MGP_C3HHeJ_G0035784
 protein coding gene ChrX:134272416-134295652 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036599
 protein coding gene ChrX:138131567-138150371 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033426
 protein coding gene ChrX:125560790-125595673 (+)
CAST/EiJ MGP_CASTEiJ_G0035072
 protein coding gene ChrX:115069520-115086540 (+)
CBA/J MGP_CBAJ_G0035760
 protein coding gene ChrX:142390370-142411458 (+)
DBA/2J MGP_DBA2J_G0035917
 protein coding gene ChrX:132937089-132955463 (+)
FVB/NJ MGP_FVBNJ_G0035851
 protein coding gene ChrX:132137839-132155079 (+)
LP/J MGP_LPJ_G0036011
 protein coding gene ChrX:135204496-135225441 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035887
 protein coding gene ChrX:149673559-149694428 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036636
 protein coding gene ChrX:133611497-133630449 (+)
PWK/PhJ MGP_PWKPhJ_G0034765
 protein coding gene ChrX:112093228-112110367 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034593
 protein coding gene ChrX:115692390-115709104 (+)
WSB/EiJ MGP_WSBEiJ_G0035207
 protein coding gene ChrX:131921666-131939633 (+)



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
    204 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
less
  • All GO Annotations
    34
  • GO References
    16
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 population 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
less
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
    1263
  • Tissues
    312
  • cDNA Data
    75
  • Literature Summary
    125
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031425 Ensembl Gene Model | MGI Sequence Detail 17063 C57BL/6J ±  kb
    transcript ENSMUST00000033800 Ensembl | MGI Sequence Detail 4699 Not Applicable  
    polypeptide ENSMUSP00000033800 Ensembl | MGI Sequence Detail 277 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 122
      Genomic 23
      cDNA 79
      Primer pair 15
      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 454
      Developmental Gene Expression 125
      Diseases 10
      Gene Ontology 16
      Phenotypes 204
    • 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:296979 Elitt MS, et al., Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease. Nature. 2020 Sep;585(7825):397-403
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    01/12/2021
    MGI 6.16     		The Jackson Laboratory