Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    MPZ myelin protein zero [ Homo sapiens (human) ]

    Gene ID: 4359, updated on 4-Jun-2017
    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]
    Orthologs
    Location:
    1q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (161303593..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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

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

    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 (nt 812-814), while the longer isoform (L-MPZ) results from UAG stop codon readthrough to the downstream UGA termination codon (nt 1004-1006). This RefSeq represents the shorter isoform.
      Source sequence(s)
      BM663255, CD172418, D10537, DB210759
      Consensus CDS
      CCDS1229.2
      UniProtKB/Swiss-Prot
      P25189
      Related
      ENSP00000432943.1, OTTHUMP00000032235, ENST00000533357.4, OTTHUMT00000082987
      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
    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 (nt 812-814), while the longer isoform (L-MPZ) results from UAG stop codon readthrough to the downstream UGA termination codon (nt 1004-1006). This RefSeq represents the longer, C-terminally extended isoform. 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      161303593..161309972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      162670753..162675990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center