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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
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 1 model
IDs
 View 7 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    64 phenotypes from 15 alleles in 28 genetic backgrounds
    47 phenotypes from multigenic genotypes
    1 images
    189 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    24
  • GO References
    14
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
    367
  • Tissues
    204
  • cDNA Data
    74
  • Literature Summary
    106
Interactions
less
Sequences &
Gene Models
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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
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  • SNPs within 2kb
    137 from dbSNP Build 142
  • PCR
    5
  • RFLP
    10
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 118
    Genomic 23
    cDNA 77
    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 413
    Developmental Gene Expression 106
    Diseases 9
    Gene Ontology 14
    Phenotypes 189
  • 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:242754 Frohlich D, et al., In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL. Neurobiol Dis. 2017 Jan;97(Pt A):24-35
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
09/12/2017
MGI 6.10 		The Jackson Laboratory