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    MPZ myelin protein zero [ Homo sapiens (human) ]

    Gene ID: 4359, updated on 3-Apr-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MPZ in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161303600..161309968, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160441004..160447413, complement)
    105.20220307 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

    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 1B Compare labs
    Charcot-Marie-Tooth disease type 2I
    MedGen: C3888087 OMIM: 607677 GeneReviews: Not available
    not available
    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
    not available

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q16072, Q5VTH4, Q92677, Q9BR67
      UniProtKB/TrEMBL
      A0A0J9YWT2
      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
      Consensus CDS
      CCDS91087.1
      UniProtKB/TrEMBL
      A0A5F9ZI26
      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: GCF_000001405.40-RS_2023_10

    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_017001321.3XP_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_054336676.1XP_054192651.1  myelin protein P0 isoform X1