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; 2 zebrafish

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:103031439-103047548 (+)  GRCh37.p13
Disease Associations		(2) Diseases Associated with Human PLP1

Alleles and phenotypes

All alleles(18) : Targeted(13) Gene trapped(1) Spontaneous(4)
 

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 Using Mouse Plp1 (2)    Alleles Annotated to Human Diseases(4)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (19 annotations)

Process	axon ensheathment, cell maturation, ...
Component	integral component of membrane, membrane, ...
Function	protein binding, structural constituent of myelin sheath, ...

External Resources: FuncBase

Expression

Literature Summary: (87 records)

Data Summary: Results (360)    Tissues (195)    Images (36)
Theiler Stages: 15, 16, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

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   ArrayExpress

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
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(57) RefSeq(4) 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:198563 Chapman H, et al., The homeobox gene Gsx2 controls the timing of oligodendroglial fate specification in mouse lateral ganglionic eminence progenitors. Development. 2013 Jun;140(11):2289-98
All references(360)

Other accession IDs

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