Seroatlas · Human Serome Atlas

MPZ

Myelin protein P0

Also known as: CMT1, CMT1B, CMT2I, CMT2J, HMSNIB, MYP0_HUMAN, P0

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P25189
Gene
MPZ
Ensembl
ENSG00000158887
Chromosome
1
Canonical length
248 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

248 residues, UniProt reviewed canonical sequence.

>P25189|MPZ
     1  MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD
    61  DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS
   121  DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR
   181  YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL
   241  GESRKDKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MPZ can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.46
Highest tissue expression
31 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 31 nTPM
  • blood vessel: 20 nTPM
  • tongue: 17 nTPM
  • colon: 15 nTPM
  • adipose tissue: 14 nTPM
  • salivary gland: 11 nTPM

Single-cell type

  • schwann cells: 787 nCPM
  • epididymal clear cells: 63 nCPM
  • neutrophils: 19 nCPM
  • salivary myoepithelial cells: 19 nCPM
  • hepatic stellate cells: 13 nCPM
  • pericytes: 9.4 nCPM

Immune cell

  • eosinophil: 0.2 nTPM
  • neutrophil: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • pons: 20 nTPM
  • hypothalamus: 7 nTPM
  • spinal cord: 5.7 nTPM
  • basal ganglia: 4.9 nTPM
  • cerebral cortex: 4.9 nTPM
  • medulla oblongata: 4.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MPZ.

Disease | AllUniProt

Conditions MPZ is implicated in, by any mechanism.

  • Charcot-Marie-Tooth disease, demyelinating, type 1B (CMT1B) MIM:118200
  • Charcot-Marie-Tooth disease, axonal, type 2I (CMT2I) MIM:607677
  • Charcot-Marie-Tooth disease, axonal, type 2J (CMT2J) MIM:607736
  • Adie pupil (ADIEP) MIM:103100
  • Charcot-Marie-Tooth disease, dominant intermediate D (CMTDID) MIM:607791
  • Dejerine-Sottas syndrome (DSS) MIM:145900
  • Roussy-Levy syndrome (ROULS) MIM:180800
  • Neuropathy, congenital hypomyelinating, 2 (CHN2) MIM:618184

Disease | GeneticClinVar

198 pathogenic / likely-pathogenic of 713 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on MPZ was assayed in.

  • chronic inflammatory demyelinating polyradiculoneuropathy B and T cell
  • Guillain-Barre syndrome T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.64
gnomAD pLI
0.27
gnomAD missense Z
0.99
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MPZ as an antibody target. Whether an autoantibody or antibody against MPZ could matter depends on whether native MPZ is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MPZ is annotated at the cell surface, where native MPZ is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MPZ as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MPZ. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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