About   Help   FAQ
Plp1
Gene Detail
Symbol

Name
ID
Plp1
proteolipid protein (myelin) 1
MGI:97623
STS
Synonyms
DM20, Plp
Feature Type
protein coding gene
Genetic Map
Chromosome X
59.10 cM, cytoband F1-F2
Detailed Genetic Map ± 1 cM


Mapping data(64)
Sequence Map
ChrX:136822671-136839733 bp, + strand
From VEGA annotation of GRCm38

  17063 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:448  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: PLP1
Protein SuperFamily: myelin proteolipid protein
Gene Tree: Plp1

Human
homologs
PLP1, proteolipid protein 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5354
neXtProt AC: NX_P60201

Human Synonyms: GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2

Human Chr (Location): Xq22; chrX:103776506-103792619 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human PLP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(21) : Gene trapped(1) Spontaneous(4) Targeted(14) Transgenic(2)
Genomic Mutations involving Plp1 (1)
 
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.
 
Human Diseases Modeled in Mice Using Plp1 (2)    Mutations Annotated to Human Diseases (7)    Phenotype Images(1)
Interactions
Plp1 interacts with 375 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process astrocyte development, axon development, ...
Component integral component of membrane, membrane, ...
Function protein binding, structural constituent of myelin sheath, ...
External Resources: FuncBase
Expression
Literature Summary: (97 records)
Data Summary: Results (360)    Tissues (202)    Images (36)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 42
RNA in situ 205
Northern blot 3
Western blot 6
RT-PCR 93
RNase protection 11
cDNA source data(74)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase plp1 ; ZFIN plp1a, plp1b    NEW 
Molecular
reagents
All nucleic(118) Genomic(23) cDNA(77) Primer pair(13) Other(5)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000016519 (Evidence)
Ensembl Gene Model ENSMUSG00000031425 (Evidence)
Entrez Gene 18823 (Evidence)
UniGene 1268
DFCI TC1571971, TC1587231, TC1595741, TC1647914
DoTS DT.101134424, DT.101393494, DT.91344137, DT.94347953, DT.97340795
NIA Mouse Gene Index U020231
Consensus CDS Project CCDS30424.1, CCDS72436.1
International Mouse Phenotyping Consortium Status Plp1
Sequences
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 sequences
All sequences(60) RefSeq(6) UniProt(3)
Polymorphisms
All PCR and RFLP(15) : PCR(5) RFLP(10) SNPs within 2kb(144 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001614 Myelin proteolipid protein PLP
InterPro IPR018237 Myelin proteolipid protein PLP, conserved site
Protein Ontology PR:000012879 myelin proteolipid protein
References
(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:221126 Lee HK, et al., Daam2-PIP5K is a regulatory pathway for Wnt signaling and therapeutic target for remyelination in the CNS. Neuron. 2015 Mar 18;85(6):1227-43
All references(370)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-11530, MGD-MRK-12562, MGD-MRK-13363, MGD-MRK-14219

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/21/2015
MGI 5.22
The Jackson Laboratory