Mpz myelin protein zero [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mpzprovided by MGI
Official Full Name: myelin protein zeroprovided by MGI
Primary source: MGI:MGI:103177
See related: Ensembl:ENSMUSG00000056569 AllianceGenome:MGI:103177
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P0; Mpp; P-zero
Summary: This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in the orthologous gene in human are associated with myelinating neuropathies. A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2015]
Expression: Biased expression in mammary gland adult (RPKM 51.2), bladder adult (RPKM 7.6) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 79.05 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (170978282..170988699)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (171150713..171161130)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Upregulation of large myelin protein zero leads to Charcot-Marie-Tooth disease-like neuropathy in mice.
Title: Upregulation of large myelin protein zero leads to Charcot-Marie-Tooth disease-like neuropathy in mice.
Data show that both transgenic Wnt1-cre and P0-cre are similarly effective in deleting beta-catenin in the neural crest.
Title: β-catenin is required in the neural crest and mesencephalon for pituitary gland organogenesis.
In the absence of P0, thus, PLP also contributes to myelination by Schwann cells and to the preservation of peripheral axons
Title: Proteolipid protein modulates preservation of peripheral axons and premature death when myelin protein zero is lacking.
interaction with neurofascins impaired by mutations D6Y, D32G, and H52Y responsible for late onset forms of the human disease
Title: HDAC1/2-Dependent P0 Expression Maintains Paranodal and Nodal Integrity Independently of Myelin Stability through Interactions with Neurofascins.
while PLP can co-exist with P0 in peripheral nervous system(PNS) myelin, PLP cannot replace P0 as the major structural protein of PNS myelin.
Title: Proteolipid protein cannot replace P0 protein as the major structural protein of peripheral nervous system myelin.
Mpz-induced murine experimental autoimmune neuritis is a CD4-positive T cell-mediated monophasic axonal inflammatory neuropathy.
Title: Costimulatory molecule CD40 is essential for myelin protein 0 peptide 106-125-induced experimental autoimmune neuritis in mice.
This study demonistrated that prolonged high frequency electrical stimulation is lethal to motor axons of mice heterozygously deficient for the myelin protein P gene.
Title: Prolonged high frequency electrical stimulation is lethal to motor axons of mice heterozygously deficient for the myelin protein P₀ gene.
results provide a potential link between the accumulation of MpzR98C in the endoplasmic reticulum and a developmental delay in myelination.
Title: MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
Mutant autoimmune regulator protein-mediated central tolerance to Mpz initiates an autoimmune T helper type (Th)1 cell effector response toward peripheral nerves.
Title: Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy.
L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough.
Title: L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Variation

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Alleles

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

Spontaneous (1)
Targeted (4) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

24.MMHAP87FRH9.seq (e-PCR)
- UniSTS:123661

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell aggregation	ISO Inferred from Sequence Orthology more info
involved_in cell-cell adhesion via plasma-membrane adhesion molecules	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell-cell junction maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation 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

General protein information

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Preferred Names: myelin protein P0

Names: myelin peripheral protein

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_001315499.1 → NP_001302428.1 myelin protein P0 isoform MPZ precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MPZ, also known as P0) results from translation termination at the upstream UAG stop codon, while the longer isoform (L-MPZ) results from UAG stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (MPZ). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AA920638, AC163497, AK157960, BB849278, BY339244

Consensus CDS

CCDS15479.1

UniProtKB/Swiss-Prot

P27573, Q542C9

UniProtKB/TrEMBL

E9QK82

Related

ENSMUSP00000106966.2, ENSMUST00000111334.2

Conserved Domains (2) summary

cd05879
Location:31 → 146

Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)

pfam10570
Location:184 → 248

Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region
NM_001315500.1 → NP_001302429.1 myelin protein P0 isoform L-MPZ precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MPZ, also known as P0) results from translation termination at the upstream UAG stop codon, while the longer isoform (L-MPZ) results from UAG stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer, C-terminally extended isoform (L-MPZ). As the UAG stop codon has been reported to specify several alternative amino acids (glutamine, tyrosine and leucine), its location in the longer isoform is denoted by an 'X'.

Source sequence(s)

AA920638, AC163497, AK157960, BB849278, BY339244

Consensus CDS

CCDS87920.1

UniProtKB/TrEMBL

A0A5F8MPM4

Related

ENSMUSP00000159037.2, ENSMUST00000238908.2

Conserved Domains (3) summary

cd05879
Location:31 → 146

Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)

smart00410
Location:36 → 146

IG_like; Immunoglobulin like

pfam10570
Location:184 → 248

Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region
NM_008623.5 → NP_032649.2 myelin protein P0 isoform MPZ precursor

See identical proteins and their annotated locations for NP_032649.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has additional 5' non-coding exons compared to variant 1. Variants 1 and 2 encode the same isoform (MPZ).

Source sequence(s)

AA920638, AC163497, AK157960, BY201877, BY339244

Consensus CDS

CCDS15479.1

UniProtKB/Swiss-Prot

P27573, Q542C9

UniProtKB/TrEMBL

E9QK82

Related

ENSMUSP00000066701.4, ENSMUST00000070758.10

Conserved Domains (2) summary

cd05879
Location:31 → 146

Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)

pfam10570
Location:184 → 248

Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region