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MPZ myelin protein zero [ Homo sapiens (human) ]

Gene ID: 4359, updated on 19-Jul-2021

Summary

Official Symbol
MPZprovided by HGNC
Official Full Name
myelin protein zeroprovided by HGNC
Primary source
HGNC:HGNC:7225
See related
Ensembl:ENSG00000158887 MIM:159440
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

See MPZ in Genome Data Viewer
Location:
1q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161303594..161309969, complement)
105.20201022 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 Purkinje cell protein 4 like 1 Neighboring gene uncharacterized LOC105371472 Neighboring gene uncharacterized LOC107985221 Neighboring gene succinate dehydrogenase complex subunit C Neighboring gene cilia and flagella associated protein 126 Neighboring gene ribonucleotide reductase M2 polypeptide pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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 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
Charcot-Marie-Tooth disease, demyelinating, type 1b Compare labs
Congenital hypomyelinating neuropathy 2
MedGen: C4722277 OMIM: 618184 GeneReviews: Not available
Compare labs
Dejerine-Sottas disease
MedGen: C0011195 OMIM: 145900 GeneReviews: Not available
Compare labs
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Roussy-Levy syndrome
MedGen: C0205713 OMIM: 180800 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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
PubMed 
involved_in myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_000530.8NP_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
    Related
    ENSP00000432943.1, ENST00000533357.5
    Conserved Domains (2) summary
    cd05879
    Location:31146
    Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)
    pfam10570
    Location:184248
    Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region
  2. NM_001315491.2NP_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
    UniProtKB/Swiss-Prot
    P25189
    Related
    ENSP00000500814.2, ENST00000672602.2
    Conserved Domains (3) summary
    cd05879
    Location:31146
    Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)
    smart00410
    Location:36146
    IG_like; Immunoglobulin like
    pfam10570
    Location:184248
    Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    161303594..161309969 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001321.2XP_016856810.1  myelin protein P0 isoform X1

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