Plp1
Gene Detail

Symbol

Name
ID

Plp1
proteolipid protein (myelin) 1
MGI:97623

STS

DXMit9, DXNds2

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

Protein SuperFamily: myelin proteolipid protein
Gene Tree: Plp1

Human
homologs

Human Homolog		PLP1, proteolipid protein 1
NCBI Gene ID		5354
neXtProt AC		NX_P60201
Human Synonyms		GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2
Human Chr (Location)		Xq22; chrX:103776511-103792619 (+)  GRCh38
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 (3)    Mutations Annotated to Human Diseases (7)    Phenotype Images(1)

Interactions

Plp1 interacts with 376 markers (Mir1b, Mir7-1, Mir7-2, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (23 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: (95 records)

Data Summary: Results (360)    Tissues (202)    Images (36)    Tissue x Stage Matrix (view)

Assay Type	Results
Immunohistochemistry	42
RNA in situ	205
Northern blot	3
Western blot	6
RT-PCR	93
RNase protection	11

cDNA source data(74)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas

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 Knockout Project Status	Plp1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016519	VEGA Gene Model | MGI Sequence Detail	17063	C57BL/6J
transcript	OTTMUST00000039923	VEGA | MGI Sequence Detail	4699	Not Applicable
polypeptide	OTTMUSP00000017800	VEGA | MGI Sequence Detail	277	Not Applicable

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

Resource	ID	Description
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:217098 Kaukua N, et al., Glial origin of mesenchymal stem cells in a tooth model system. Nature. 2014 Sep 25;513(7519):551-4
All references(370)
Disease annotation references (5)

Other
accession IDs

MGD-MRK-11530, MGD-MRK-12562, MGD-MRK-13363, MGD-MRK-14219