Plp1 proteolipid protein (myelin) 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Plp1provided by MGI
Official Full Name: proteolipid protein (myelin) 1provided by MGI
Primary source: MGI:MGI:97623
See related: Ensembl:ENSMUSG00000031425 AllianceGenome:MGI:97623
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: jp; Plp; msd; rsh; DM20; jimpy
Summary: Predicted to enable identical protein binding activity. Predicted to be a structural constituent of myelin sheath. Involved in positive regulation of gene expression. Acts upstream of or within inflammatory response; long-chain fatty acid biosynthetic process; and neurogenesis. Located in myelin sheath. Is expressed in several structures, including alimentary system; integumental system; musculature; nervous system; and sensory organ. Used to study Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2. Human ortholog(s) of this gene implicated in Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2. Orthologous to human PLP1 (proteolipid protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 410.7), cortex adult (RPKM 272.7) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: X F1; X 59.1 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (135720897..135739331)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (136820148..136838582)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Microglia-mediated demyelination protects against CD8[+] T cell-driven axon degeneration in mice carrying PLP defects.
Title: Microglia-mediated demyelination protects against CD8(+) T cell-driven axon degeneration in mice carrying PLP defects.
Proteolipid protein 1 is involved in the regulation of intestinal motility and barrier function in the mouse.
Title: Proteolipid protein 1 is involved in the regulation of intestinal motility and barrier function in the mouse.
Focused ion beam-scanning electron microscopy links pathological myelin outfoldings to axonal changes in mice lacking Plp1 or Mag.
Title: Focused ion beam-scanning electron microscopy links pathological myelin outfoldings to axonal changes in mice lacking Plp1 or Mag.
Identifying oligodendrocyte enhancers governing Plp1 expression.
Title: Identifying oligodendrocyte enhancers governing Plp1 expression.
Identity and lineage fate of proteolipid protein 1 gene (Plp1)-expressing cells in the embryonic murine spinal cord.
Title: Identity and lineage fate of proteolipid protein 1 gene (Plp1)-expressing cells in the embryonic murine spinal cord.
Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.
Title: Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.
Young adult Plp1-null mice exhibited subtle but substantial behavioral alterations, indicative of an early impact of mild myelin disruption.
Title: Mild myelin disruption elicits early alteration in behavior and proliferation in the subventricular zone.
This report the mouse model in which maintenance of high proteolipid protein level in adult central nervous system myelin is required to preserve the integrity of myelin and axons.
Title: Maintenance of high proteolipid protein level in adult central nervous system myelin is required to preserve the integrity of myelin and axons.
These results suggest that colitis promotes rapid enteric neurogenesis in adult mice and humans through differentiation of Sox2- and PLP1-expressing cells, which represent enteric glia and/or neural progenitors
Title: Colitis promotes neuronal differentiation of Sox2+ and PLP1+ enteric cells.
This study demonstrated that Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2.
Title: Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Spontaneous (5) 1 citation
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Plp1 (e-PCR), detects polymorphism
- UniSTS:507161

M37335 (e-PCR)
- UniSTS:124953

Plp1 (e-PCR), detects polymorphism
- UniSTS:536615

Plp1 (e-PCR), detects polymorphism
- UniSTS:536616

DXNds2 (e-PCR), detects polymorphism
- UniSTS:142913

Plp1 (e-PCR), detects polymorphism
- UniSTS:507978

Plp (e-PCR), detects polymorphism
- UniSTS:144223

Plp (e-PCR), detects polymorphism
- UniSTS:144224

DXMit9 (e-PCR), detects polymorphism
- UniSTS:132197

Plp (e-PCR), detects polymorphism
- UniSTS:265582

D573 (e-PCR)
- UniSTS:124840

PMC311008P1 (e-PCR)
- UniSTS:272836

Plp1 (e-PCR), detects polymorphism
- UniSTS:531423

Plp1 (e-PCR), detects polymorphism
- UniSTS:495850

Plp1 (e-PCR), detects polymorphism
- UniSTS:495851

Plp1 (e-PCR), detects polymorphism
- UniSTS:495852

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of myelin sheath	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of myelin sheath	IEA Inferred from Electronic Annotation more info
enables structural constituent of myelin sheath	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in AMPA selective glutamate receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in AMPA selective glutamate receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within astrocyte development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within axon development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axon ensheathment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in central nervous system myelination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within central nervous system myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glial cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inflammatory response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within long-chain fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myelination	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of integrin alphav-beta3 complex	IEA Inferred from Electronic Annotation more info
part_of integrin alphav-beta3 complex	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
is_active_in myelin sheath	IBA Inferred from Biological aspect of Ancestor more info
located_in myelin sheath	IDA Inferred from Direct Assay more info	PubMed
located_in myelin sheath	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: myelin proteolipid protein

Names: lipophilin; myelin synthesis deficiency; rump shaker

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290561.2 → NP_001277490.1 myelin proteolipid protein isoform 2

See identical proteins and their annotated locations for NP_001277490.1

Status: VALIDATED

Source sequence(s)

AK160872, AL672008, BC027010

Consensus CDS

CCDS72436.1

UniProtKB/Swiss-Prot

P60202

UniProtKB/TrEMBL

Q3UYM8

Related

ENSMUSP00000108708.2, ENSMUST00000113085.2

Conserved Domains (1) summary

pfam01275
Location:5 → 238

Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
NM_001359117.1 → NP_001346046.1 myelin proteolipid protein isoform 1

Status: VALIDATED

Source sequence(s)

AL671887, AL672008

Consensus CDS

CCDS30424.1

UniProtKB/Swiss-Prot

P60202, Q9WUS9

UniProtKB/TrEMBL

Q3UYM8

Conserved Domains (1) summary

pfam01275
Location:5 → 273

Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
NM_001359118.1 → NP_001346047.1 myelin proteolipid protein isoform 2

Status: VALIDATED

Source sequence(s)

AL671887, AL672008

Consensus CDS

CCDS72436.1

Conserved Domains (1) summary

pfam01275
Location:5 → 238

Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
NM_001359119.1 → NP_001346048.1 myelin proteolipid protein isoform 1

Status: VALIDATED

Source sequence(s)

AL671887, AL672008

Consensus CDS

CCDS30424.1

UniProtKB/Swiss-Prot

P60202, Q9WUS9

UniProtKB/TrEMBL

Q3UYM8

Conserved Domains (1) summary

pfam01275
Location:5 → 273

Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
NM_001359120.1 → NP_001346049.1 myelin proteolipid protein isoform 1

Status: VALIDATED

Source sequence(s)

AL671887, AL672008

Consensus CDS

CCDS30424.1

UniProtKB/Swiss-Prot

P60202, Q9WUS9

UniProtKB/TrEMBL

Q3UYM8

Conserved Domains (1) summary

pfam01275
Location:5 → 273

Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
NM_011123.4 → NP_035253.1 myelin proteolipid protein isoform 1

See identical proteins and their annotated locations for NP_035253.1

Status: VALIDATED

Source sequence(s)

AK160872, AL672008, BC027010

Consensus CDS

CCDS30424.1

UniProtKB/Swiss-Prot

P60202, Q9WUS9

UniProtKB/TrEMBL

Q3UYM8

Related

ENSMUSP00000033800.7, ENSMUST00000033800.13

Conserved Domains (1) summary

pfam01275
Location:5 → 273

Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

135720897..135739331

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001290562.1: Suppressed sequence

Description

NM_001290562.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.