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MPZ myelin protein zero [ Homo sapiens (human) ]

Gene ID: 4359, updated on 10-Dec-2024

Summary

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Official Symbol
MPZprovided by HGNC
Official Full Name
myelin protein zeroprovided by HGNC
Primary source
HGNC:HGNC:7225
See related
Ensembl:ENSG00000158887 MIM:159440; AllianceGenome:HGNC:7225
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P0; CHM; DSS; MPP; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB
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 this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). 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
Broad expression in fat (RPKM 6.2), prostate (RPKM 4.2) and 20 other tissues See more
Orthologs
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Genomic context

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See MPZ in Genome Data Viewer
Location:
1q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161303600..161309968, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160441004..160447413, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161274525..161279758, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985221 Neighboring gene uncharacterized LOC124904442 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161283747-161284510 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:161286037-161286798 Neighboring gene succinate dehydrogenase complex subunit C Neighboring gene ReSE screen-validated silencer GRCh37_chr1:161326501-161326699 Neighboring gene NANOG hESC enhancer GRCh37_chr1:161334969-161335471 Neighboring gene cilia and flagella associated protein 126

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. A novel MPZ gene mutation in congenital neuropathy with hypomyelination. Kochanski A, et al. Neurology, 2004 Jun 8. PMID 15184631
  2. Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine. Hryshchenko NV, et al. Tsitol Genet, 2005 Sep-Oct. PMID 16398147
  3. Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis. Rajabally YA, et al. J Peripher Nerv Syst, 2005 Dec. PMID 16279991
  4. Marked phenotypic variation in a family with a new myelin protein zero mutation. Szabo A, et al. Neuromuscul Disord, 2005 Nov. PMID 16198109
  5. Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation. Lee YC, et al. J Neurol, 2005 Feb. PMID 15729519

See all (171) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The cytoplasmic tail of myelin protein zero induces morphological changes in lipid membranes.
    Title: The cytoplasmic tail of myelin protein zero induces morphological changes in lipid membranes.
  2. Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
    Title: Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
  3. Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
    Title: Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
  4. Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
    Title: Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
  5. Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
    Title: Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
  6. Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
    Title: Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
  7. MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
    Title: MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
  8. Loss of function MPZ mutation causes milder CMT1B neuropathy.
    Title: Loss of function MPZ mutation causes milder CMT1B neuropathy.
  9. Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
    Title: Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
  10. Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
    Title: Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Submit: New GeneRIF Correction See all GeneRIFs (95)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Charcot-Marie-Tooth disease dominant intermediate D
MedGen: C1843075 OMIM: 607791 GeneReviews: Not available
Compare labs
Charcot-Marie-Tooth disease type 1B
MedGen: C0270912 OMIM: 118200 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview
Compare labs
Charcot-Marie-Tooth disease type 2I
MedGen: C3888087 OMIM: 607677 GeneReviews: Not available
Compare labs
Charcot-Marie-Tooth disease type 2J
MedGen: C1843153 OMIM: 607736 GeneReviews: Not available
Compare labs
Dejerine-Sottas disease
MedGen: C0011195 OMIM: 145900 GeneReviews: Not available
Compare labs
Neuropathy, congenital hypomyelinating, 2
MedGen: C4722277 OMIM: 618184 GeneReviews: Not available
Compare labs
Roussy-Levy syndrome
MedGen: C0205713 OMIM: 180800 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables structural molecule activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell aggregation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in myelination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in myelination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in myelin sheath 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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
myelin protein P0
Names
Charcot-Marie-Tooth neuropathy 1B
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.

Genomic

  1. NG_008055.1 RefSeqGene

    Range
    5001..10238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_256

mRNA and Protein(s)

  1. NM_000530.8 → NP_000521.2  myelin protein P0 isoform MPZ precursor

    See identical proteins and their annotated locations for NP_000521.2

    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)
    BM663255, CD172418, D10537, DB210759
    Consensus CDS
    CCDS1229.2
    UniProtKB/Swiss-Prot
    P25189, Q16072, Q5VTH4, Q92677, Q9BR67
    UniProtKB/TrEMBL
    A0A0J9YWT2
    Related
    ENSP00000432943.1, ENST00000533357.5
    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

  2. NM_001315491.2 → NP_001302420.1  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)
    BM663255, CD172418, D10537, DB210759
    Consensus CDS
    CCDS91087.1
    UniProtKB/TrEMBL
    A0A5F9ZI26
    Related
    ENSP00000500814.2, ENST00000672602.2
    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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    161303600..161309968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001321.3 → XP_016856810.1  myelin protein P0 isoform X1

    UniProtKB/TrEMBL
    Q14902

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    160441004..160447413 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336676.1 → XP_054192651.1  myelin protein P0 isoform X1

    UniProtKB/TrEMBL
    Q14902
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P25189.1 GenPept UniProtKB/Swiss-Prot:P25189

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