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MPZ myelin protein zero [ Homo sapiens (human) ]

Gene ID: 4359, updated on 12-Aug-2018

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; Vega:OTTHUMG00000034341
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; 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

Genomic context

See MPZ in Genome Data Viewer
Location:
1q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (161303594..161309972, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161274525..161279762, 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell adhesion via plasma-membrane adhesion molecules IMP
Inferred from Mutant Phenotype
more info
PubMed 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
rough endoplasmic reticulum 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)

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_000530.7NP_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, OTTHUMP00000032235, ENST00000533357.4, OTTHUMT00000082987
    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_001315491.1NP_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
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    161303594..161309972 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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