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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
  • Transcription Start Sites
    32 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:136822166-136838582 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 59.10 cM, cytoband F1-F2
  • Mapping Data
    64 experiments
  • Sequence Tags
Strain
Comparison
more
  • SNPs within 2kb
    134 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97623
protein coding gene ChrX:136822166-136839733 (.)
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
    196 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
  • GO References
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18823 NCBI Gene Model | MGI Sequence Detail 16417 C57BL/6J ±  kb
    transcript NM_001359117 RefSeq | MGI Sequence Detail 3736 C57BL/6  
    polypeptide P60202 UniProt | EBI | MGI Sequence Detail 277 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 120
      Genomic 23
      cDNA 79
      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 435
      Developmental Gene Expression 114
      Diseases 10
      Gene Ontology 16
      Phenotypes 196
    • 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:264150 Gould EA, et al., Mild myelin disruption elicits early alteration in behavior and proliferation in the subventricular zone. Elife. 2018 Feb 13;7

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory