Plp1 MGI Mouse Gene Detail - MGI:97623 - proteolipid protein (myelin) 1

Plp1 Gene Detail

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

Sequence Map

ChrX:136822671-136839733 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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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

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

HGNC:9086

NCBI Gene ID: 5354

neXtProt AC: NX_P60201
Chr Location

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

HomoloGene

Vertebrate Homology Class 448
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 frog, western clawed
HCOP

human homology predictions: PLP1
Protein SuperFamily

myelin proteolipid protein
Gene Tree

Plp1

Diseases

2 with Plp1 mouse models; 2 with human PLP1 associations

Human Disease

Mouse Models

Pelizaeus-Merzbacher Disease; PMD OMIM: 312080

View 7 models

Spastic Paraplegia 2, X-Linked; SPG2 OMIM: 312920

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

7 with disease annotations

References

14 with disease annotations

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Phenotype Summary

60 phenotypes from 14 alleles in 26 genetic backgrounds
47 phenotypes from multigenic genotypes
1 images
186 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

23
Gene trapped

1
Spontaneous

4
Targeted

14
Transgenic

4
Genomic Mutations

1 involving Plp1

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.

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All GO Annotations

24
GO References

14

External Resources

FuncBase

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

366
Tissues

204
cDNA Data

74
Literature Summary

103

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO
Other Vertebrate Links

Xenbase plp1

ZFIN plp1a, plp1b

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Plp1 interacts with 375 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

50
RefSeq

12
UniProt

3
CCDS

CCDS30424.1, CCDS72436.1
UniGene

1268

			Length	Strain/Species	Flank
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

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SNPs within 2kb

137 from dbSNP Build 142

PCR

5
RFLP

10

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UniProt

3 Sequences
Protein Ontology

PR:000012879 myelin proteolipid protein
InterPro Domains

IPR001614 Myelin proteolipid protein PLP

IPR018237 Myelin proteolipid protein PLP, conserved site

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All nucleic 118

Genomic 23

cDNA 77

Primer pair 13

Other 5

Microarray probesets 6

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

Summaries

All 379

Developmental Gene Expression 103

Diseases 14

Gene Ontology 14

Phenotypes 186
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:234565 He D, et al., Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination. Nat Neurosci. 2016 May;19(5):678-89

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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