LOCUS       NM_000530               1951 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens myelin protein zero (MPZ), transcript variant 1, mRNA.
ACCESSION   NM_000530
VERSION     NM_000530.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1951)
  AUTHORS   Yamaguchi,Y. and Baba,H.
  TITLE     Phylogenetically Conserved Sequences Around Myelin P0 Stop Codon
            are Essential for Translational Readthrough to Produce L-MPZ
  JOURNAL   Neurochem Res 43 (1), 227-237 (2018)
   PUBMED   29081003
REFERENCE   2  (bases 1 to 1951)
  AUTHORS   Yamaguchi,Y., Hayashi,A., Campagnoni,C.W., Kimura,A., Inuzuka,T.
            and Baba,H.
  TITLE     L-MPZ, a novel isoform of myelin P0, is produced by stop codon
            readthrough
  JOURNAL   J Biol Chem 287 (21), 17765-17776 (2012)
   PUBMED   22457349
  REMARK    GeneRIF: L-MPZ, a novel isoform of myelin P0, is produced by stop
            codon readthrough.
REFERENCE   3  (bases 1 to 1951)
  AUTHORS   Luo,X., Sharma,D., Inouye,H., Lee,D., Avila,R.L., Salmona,M. and
            Kirschner,D.A.
  TITLE     Cytoplasmic domain of human myelin protein zero likely folded as
            beta-structure in compact myelin
  JOURNAL   Biophys J 92 (5), 1585-1597 (2007)
   PUBMED   17142269
  REMARK    GeneRIF: the cytoplasmic apposition (major dense line) in compact
            myelin may be stabilized via the hydrogen-bonding of beta-strands
            formed as a result of local P0-P0 aggregation.
REFERENCE   4  (bases 1 to 1951)
  AUTHORS   Shy,M.E.
  TITLE     Peripheral neuropathies caused by mutations in the myelin protein
            zero
  JOURNAL   J Neurol Sci 242 (1-2), 55-66 (2006)
   PUBMED   16414078
  REMARK    GeneRIF: Peripheral neuropathies caused by mutations in the myelin
            protein zero.
            Review article
REFERENCE   5  (bases 1 to 1951)
  AUTHORS   Beier,H. and Grimm,M.
  TITLE     Misreading of termination codons in eukaryotes by natural nonsense
            suppressor tRNAs
  JOURNAL   Nucleic Acids Res 29 (23), 4767-4782 (2001)
   PUBMED   11726686
  REMARK    Review article
REFERENCE   6  (bases 1 to 1951)
  AUTHORS   Pham-Dinh,D., Fourbil,Y., Blanquet,F., Mattei,M.G., Roeckel,N.,
            Latour,P., Chazot,G., Vandenberghe,A. and Dautigny,A.
  TITLE     The major peripheral myelin protein zero gene: structure and
            localization in the cluster of Fc gamma receptor genes on human
            chromosome 1q21.3-q23
  JOURNAL   Hum Mol Genet 2 (12), 2051-2054 (1993)
   PUBMED   7509228
REFERENCE   7  (bases 1 to 1951)
  AUTHORS   Hayasaka,K., Himoro,M., Wang,Y., Takata,M., Minoshima,S.,
            Shimizu,N., Miura,M., Uyemura,K. and Takada,G.
  TITLE     Structure and chromosomal localization of the gene encoding the
            human myelin protein zero (MPZ)
  JOURNAL   Genomics 17 (3), 755-758 (1993)
   PUBMED   7503936
REFERENCE   8  (bases 1 to 1951)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   9  (bases 1 to 1951)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   10 (bases 1 to 1951)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301384
REFERENCE   11 (bases 1 to 1951)
  AUTHORS   Hayasaka,K., Nanao,K., Tahara,M., Sato,W., Takada,G., Miura,M. and
            Uyemura,K.
  TITLE     Isolation and sequence determination of cDNA encoding the major
            structural protein of human peripheral myelin
  JOURNAL   Biochem Biophys Res Commun 180 (2), 515-518 (1991)
   PUBMED   1719967
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB210759.1, D10537.1,
            CD172418.1 and BM663255.1.
            
            On Nov 22, 2018 this sequence version replaced NM_000530.7.
            
            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].
            
            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).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK313555.1, D10537.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: community standard
                                                (PMID:16414078)
            MANE Ensembl match               :: ENST00000533357.5/
                                                ENSP00000432943.1
            RefSeq Select criteria           :: based on conservation,
                                                expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-554               DB210759.1         6-559
            555-1121            D10537.1           535-1101
            1122-1699           CD172418.1         270-847
            1700-1951           BM663255.1         16-267              c
FEATURES             Location/Qualifiers
     source          1..1951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..1951
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="myelin protein zero"
                     /db_xref="GeneID:4359"
                     /db_xref="HGNC:HGNC:7225"
                     /db_xref="MIM:159440"
     exon            1..130
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..810
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="isoform MPZ precursor is encoded by transcript
                     variant 1; Charcot-Marie-Tooth neuropathy 1B; myelin
                     protein P0; myelin peripheral protein"
                     /codon_start=1
                     /product="myelin protein P0 isoform MPZ precursor"
                     /protein_id="NP_000521.2"
                     /db_xref="CCDS:CCDS1229.2"
                     /db_xref="GeneID:4359"
                     /db_xref="HGNC:HGNC:7225"
                     /db_xref="MIM:159440"
                     /translation="MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGS
                     RVTLHCSFWSSEWVSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWV
                     GDPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGA
                     VIGGVLGVVLLLLLLFYVVRYCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPV
                     LYAMLDHSRSTKAVSEKKAKGLGESRKDKK"
     exon            131..297
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /inference="alignment:Splign:2.1.0"
     exon            298..511
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /inference="alignment:Splign:2.1.0"
     exon            512..647
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /inference="alignment:Splign:2.1.0"
     exon            648..708
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /inference="alignment:Splign:2.1.0"
     exon            709..1951
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1929..1934
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="hexamer: AATAAA"
     polyA_site      1951
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J;
                     CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="major polyA site"
ORIGIN      
        1 agttcctggt cccccacttt ctcaacccca cagatgctcc gggcccctgc ccctgcccca
       61 gctatggctc ctggggctcc ctcatccagc cccagcccta tcctggctgt gctgctcttc
      121 tcttctttgg tgctgtcccc ggcccaggcc atcgtggttt acaccgacag ggaggtccat
      181 ggtgctgtgg gctcccgggt gaccctgcac tgctccttct ggtccagtga gtgggtctca
      241 gatgacatct ccttcacctg gcgctaccag cccgaagggg gcagagatgc catttcgatc
      301 ttccactatg ccaagggaca accctacatt gacgaggtgg ggaccttcaa agagcgcatc
      361 cagtgggtag gggaccctcg ctggaaggat ggctccattg tcatacacaa cctagactac
      421 agtgacaatg gcacgttcac ttgtgacgtc aaaaaccctc cagacatagt gggcaagacc
      481 tctcaggtca cgctgtatgt ctttgaaaaa gtgccaacta ggtacggggt cgttctggga
      541 gctgtgatcg ggggtgtcct cggggtggtg ctgttgctgc tgctgctttt ctacgtggtt
      601 cggtactgct ggctacgcag gcaggcggcc ctgcagagga ggctcagtgc tatggagaag
      661 gggaaattgc acaagccagg aaaggacgcg tcgaagcgcg ggcggcagac gccagtgctg
      721 tatgcaatgc tggaccacag cagaagcacc aaagctgtca gtgagaagaa ggccaagggg
      781 ctgggggagt ctcgcaagga taagaaatag cggttagcgg gccgggcggg ggatcggggg
      841 ttaggggtgg agtccgccaa aggcccaaag gtgatggtca tcgagatgga gctacgaaag
      901 gatgagcaga gcccggagct ccggcctgct gtcaagtccc ccagcagaac cagcctcaaa
      961 aacgccctca agaacatgat gggcctgaac tcggacaagt gatcgccacc cccccacccc
     1021 aggccctgcc agagcagggg gacctaggct cctcttaccc ccgtctaggt gctttccctc
     1081 tttgctcccc cgccctgccc tgccctcacc tccctttgag atgtaagttt cattccagaa
     1141 ttcattcccc aggcaattgt attctccccc accttcaccc ctggctttct gggagcccag
     1201 gagctaatcc tacccctcac ctgccccggg ggctgtgtgt ttggtgcctg tccacctgag
     1261 cactgagaag aaagggactt tgataccctc tgcctcaagt ccaggccacc tggcattccc
     1321 atctcctgca tcccccagcc tgtccccctg gctgtttcct ctcccgtccc tccctcccct
     1381 ctaccaggtg gcccagctcc atactctgtc cccccagcta atacccagag cacccagatc
     1441 agactctcct tcagggttta tttaggttat tattttttat tttttaatcc attctttgtt
     1501 tgtttacctg tgctcatcct ctgcccttac acccatgact gaggaccaat gacgtcatgt
     1561 ggcttttgca attcacgccc cccttaagtc cttaatgaag agccagccca agtagagggg
     1621 cccctgatcc tcacacttca gtatagcatt ggttccccct gaccactttg gagcactgtt
     1681 ctgggactcc aggtcttgag gagagagaca gagagagaga atggatcctc ataggtcagg
     1741 gagtggggga gggggcaaat gagccttaag aaatggtttt taaacaacca aacaaaaagc
     1801 aggaaaaaca aatgggaaat gggggggcgg gggggaggaa gaggctgcac tgcagccaca
     1861 ggggattctt aggatttttc tacattctgt atatttcttc tcaaacctcc aaatgtcctt
     1921 aaatgtttaa taaacactga catttccaga a
//
