Mpz myelin protein zero [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mpzprovided by RGD
Official Full Name: myelin protein zeroprovided by RGD
Primary source: RGD:3109
See related: Ensembl:ENSRNOG00000003171 AllianceGenome:RGD:3109
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: P0; MPP
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. [provided by RefSeq, Oct 2015]
Expression: Biased expression in Muscle (RPKM 933.3) and Lung (RPKM 72.7) See more
Orthologs: all
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Genomic context

Location:: 13q24

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	13	NC_086031.1 (86103290..86109156)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	13	NC_051348.1 (83570811..83576680)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	13	NC_005112.4 (89524204..89530070)

Chromosome 13 - NC_086031.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the findings of this study indicate that treatment with 4ASA reduced the ER stress and Schwann cell death caused by 2 different MPZ mutants and suggest that ASA may be a potential therapeutic agent for CharcotMarieTooth disease .
Title: Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations.
that phylogenetic emergence of L-MPZ in amphibians may be related to particular distribution and/or function in the PNS myelin
Title: Phylogenetically Conserved Sequences Around Myelin P0 Stop Codon are Essential for Translational Readthrough to Produce L-MPZ.
steady-state levels of insulin receptor mRNA increase during development and after postnatal day 10, when the peak of myelin structural gene (P0) expression occurs, increasing further in parallel with the growth of the myelin sheath
Title: Developmental regulation of insulin receptor gene in sciatic nerves and role of insulin on glycoprotein P0 in the Schwann cells.
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.
The P0 in sciatic nerve of rats could be destroyed by 2,5-hexanedione and P0 expression level decreased with the time of 2,5-hexanedione administration.
Title: [Effect of 2,5-hexanedione on myelin protein zero in sciatic nerve and its antibody in serum of rats at different time points].
a rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo
Title: A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
These results provided interesting experimental evidence for understanding the mechanism of demyelinating neuropathies caused by MPZ gene malfunction.
Title: Mpz gene suppression by shRNA increases Schwann cell apoptosis in vitro.
Our results suggest that this loss of adhesion may be due, at least in part, to a failure of sufficient MPZ to reach the cell surface and that this impaired trafficking is associated with deficient serine phosphorylation in the cytoplasmic domain.
Title: Myelin protein zero: mutations in the cytoplasmic domain interfere with its cellular trafficking.
Data show that steroid receptor coactivator-1 (SRC-1) overexpressing cells are more responsive to Po mRNA induction by dihydroprogesterone (DHP) than SRC-1-deficient cells, and that DHP treatment increases not only Po but also SRC-1 mRNA levels.
Title: SRC-1 is involved in the control of the gene expression of myelin protein Po.
Myelin protein zero (P0) contains a hierarchy of targeting signals which may contribute to P0 localization in myelinating Schwann cells and disease pathogenesis.
Title: A dual tyrosine-leucine motif mediates myelin protein P0 targeting in MDCK cells.

Submit: New GeneRIF Correction See all GeneRIFs (12)

General gene information

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Gene Ontology Provided by RGD

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

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
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 protein P0

Names: myelin peripheral protein; myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)

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_001314068.1 → NP_001300997.1 myelin protein P0 isoform L-MPZ precursor

Status: REVIEWED

Description

Transcript Variant: This transcript (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)

BC078859, CB608173

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_017027.2 → NP_058723.2 myelin protein P0 isoform MPZ precursor

Status: REVIEWED

Description

Transcript Variant: This transcript (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).

Source sequence(s)

BC078859, CB608173

UniProtKB/Swiss-Prot

P06907

UniProtKB/TrEMBL

A0A8I6GLD0, A6JFU2

Related

ENSRNOP00000004279.4, ENSRNOT00000004279.7

Conserved Domains (2) summary

pfam10570
Location:184 → 248

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

cd05879
Location:30 → 146

IgV_P0; Immunoglobulin (Ig)-like domain of protein zero (P0)