LOCUS       NM_000533               3011 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens proteolipid protein 1 (PLP1), transcript variant 1,
            mRNA.
ACCESSION   NM_000533
VERSION     NM_000533.5
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 3011)
  AUTHORS   Zhou,X., Wang,Y., He,R., Liu,Z., Xu,Q., Guo,J., Yan,X., Li,J.,
            Tang,B., Zeng,S. and Sun,Q.
  TITLE     Microdeletion in distal PLP1 enhancers causes hereditary spastic
            paraplegia 2
  JOURNAL   Ann Clin Transl Neurol 10 (9), 1590-1602 (2023)
   PUBMED   37475517
  REMARK    GeneRIF: Microdeletion in distal PLP1 enhancers causes hereditary
            spastic paraplegia 2.
REFERENCE   2  (bases 1 to 3011)
  AUTHORS   Sarret,C., Combes,P., Micheau,P., Gelot,A., Boespflug-Tanguy,O. and
            Vaurs-Barriere,C.
  TITLE     Novel neuronal proteolipid protein isoforms encoded by the human
            myelin proteolipid protein 1 gene
  JOURNAL   Neuroscience 166 (2), 522-538 (2010)
   PUBMED   20036320
  REMARK    GeneRIF: These results suggest for the first time that PLP may have
            functions in humans not only in oligodendrocytes but also in
            neurons and could be implicated in axono-glial communication
REFERENCE   3  (bases 1 to 3011)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE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   24501781
REFERENCE   4  (bases 1 to 3011)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   5  (bases 1 to 3011)
  AUTHORS   Wolf,N.I., van Spaendonk,R.M.L., Hobson,G.M. and Kamholz,J.
  TITLE     PLP1 Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301361
REFERENCE   6  (bases 1 to 3011)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 3011)
  AUTHORS   Pratt,V.M., Trofatter,J.A., Larsen,M.B., Hodes,M.E. and Dlouhy,S.R.
  TITLE     New variant in exon 3 of the proteolipid protein (PLP) gene in a
            family with Pelizaeus-Merzbacher disease
  JOURNAL   Am J Med Genet 43 (3), 642-646 (1992)
   PUBMED   1376553
REFERENCE   8  (bases 1 to 3011)
  AUTHORS   Simons,R., Alon,N. and Riordan,J.R.
  TITLE     Human myelin DM-20 proteolipid protein deletion defined by cDNA
            sequence
  JOURNAL   Biochem Biophys Res Commun 146 (2), 666-671 (1987)
   PUBMED   2441695
REFERENCE   9  (bases 1 to 3011)
  AUTHORS   Kronquist,K.E., Crandall,B.F., Macklin,W.B. and Campagnoni,A.T.
  TITLE     Expression of myelin proteins in the developing human spinal cord:
            cloning and sequencing of human proteolipid protein cDNA
  JOURNAL   J Neurosci Res 18 (3), 395-401 (1987)
   PUBMED   2449536
REFERENCE   10 (bases 1 to 3011)
  AUTHORS   Diehl,H.J., Schaich,M., Budzinski,R.M. and Stoffel,W.
  TITLE     Individual exons encode the integral membrane domains of human
            myelin proteolipid protein
  JOURNAL   Proc Natl Acad Sci U S A 83 (24), 9807-9811 (1986)
   PUBMED   3467339
  REMARK    Erratum:[Hum Genet. 1991 Apr;86(6):617-8. doi: 10.1007/BF00201552..
            PMID: 1709135]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA299940.1, AK292728.1 and
            BC095452.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000533.4.
            
            Summary: This gene encodes a transmembrane proteolipid protein that
            is the predominant component of myelin. The encoded protein may
            play a role in the compaction, stabilization, and maintenance of
            myelin sheaths, as well as in oligodendrocyte development and
            axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher
            disease and spastic paraplegia type 2. Alternatively splicing
            results in multiple transcript variants, including the DM20 splice
            variant. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (1, also known as PLP) encodes the
            longest isoform (1). Variants 1 and 3 encode the same isoform (1).
            
            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 :: SRR3476690.1043899.1,
                                           SRR3476690.844864.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621218.5/ ENSP00000484450.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-514               DA299940.1         49-562
            515-1058            AK292728.1         644-1187
            1059-2524           BC095452.1         990-2455
            2525-3011           BC095452.1         2457-2943
FEATURES             Location/Qualifiers
     source          1..3011
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     gene            1..3011
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /note="proteolipid protein 1"
                     /db_xref="GeneID:5354"
                     /db_xref="HGNC:HGNC:9086"
                     /db_xref="MIM:300401"
     exon            1..160
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             157..990
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     lipophilin; myelin proteolipid protein; major myelin
                     proteolipid protein"
                     /codon_start=1
                     /product="myelin proteolipid protein isoform 1"
                     /protein_id="NP_000524.3"
                     /db_xref="CCDS:CCDS14513.1"
                     /db_xref="GeneID:5354"
                     /db_xref="HGNC:HGNC:9086"
                     /db_xref="MIM:300401"
                     /translation="MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTE
                     KLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFG
                     DYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT
                     VVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGK
                     VCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTK
                     F"
     exon            161..347
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /inference="alignment:Splign:2.1.0"
     exon            348..609
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /inference="alignment:Splign:2.1.0"
     exon            610..778
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /inference="alignment:Splign:2.1.0"
     exon            779..852
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /inference="alignment:Splign:2.1.0"
     exon            853..918
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /inference="alignment:Splign:2.1.0"
     exon            919..3011
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2984..2989
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /note="hexamer: AATAAA"
     polyA_site      3011
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /note="major polyA site"
ORIGIN      
        1 cttttcattg caggagaaga ggacaaagat actcagagag aaaaagtaaa agaccgaaga
       61 aggaggctgg agagaccagg atccttccag ctgaacaaag tcagccacaa agcagactag
      121 ccagccggct acaattggag tcagagtccc aaagacatgg gcttgttaga gtgctgtgca
      181 agatgtctgg taggggcccc ctttgcttcc ctggtggcca ctggattgtg tttctttggg
      241 gtggcactgt tctgtggctg tggacatgaa gccctcactg gcacagaaaa gctaattgag
      301 acctatttct ccaaaaacta ccaagactat gagtatctca tcaatgtgat ccatgccttc
      361 cagtatgtca tctatggaac tgcctctttc ttcttccttt atggggccct cctgctggct
      421 gagggcttct acaccaccgg cgcagtcagg cagatctttg gcgactacaa gaccaccatc
      481 tgcggcaagg gcctgagcgc aacggtaaca gggggccaga aggggagggg ttccagaggc
      541 caacatcaag ctcattcttt ggagcgggtg tgtcattgtt tgggaaaatg gctaggacat
      601 cccgacaagt ttgtgggcat cacctatgcc ctgaccgttg tgtggctcct ggtgtttgcc
      661 tgctctgctg tgcctgtgta catttacttc aacacctgga ccacctgcca gtctattgcc
      721 ttccccagca agacctctgc cagtataggc agtctctgtg ctgatgccag aatgtatggt
      781 gttctcccat ggaatgcttt ccctggcaag gtttgtggct ccaaccttct gtccatctgc
      841 aaaacagctg agttccaaat gaccttccac ctgtttattg ctgcatttgt gggggctgca
      901 gctacactgg tttccctgct caccttcatg attgctgcca cttacaactt tgccgtcctt
      961 aaactcatgg gccgaggcac caagttctga tcccccgtag aaatccccct ttctctaata
     1021 gcgaggctct aaccacacag cctacaatgc tgcgtctccc atcttaactc tttgcctttg
     1081 ccaccaactg gccctcttct tacttgatga gtgtaacaag aaaggagagt cttgcagtga
     1141 ttaaggtctc tctttggact ctcccctctt atgtacctct tttagtcatt ttgcttcata
     1201 gctggttcct gctagaaatg ggaaatgcct aagaagatga cttcccaact gcaagtcaca
     1261 aaggaatgga ggctctaatt gaattttcaa gcatctcctg aggatcagaa agtaatttct
     1321 tctcaaaggg tacttccact gatggaaaca aagtggaagg aaagatgctc aggtacagag
     1381 aaggaatgtc tttggtcctc ttgccatcta taggggccaa atatattctc tttggtgtac
     1441 aaaatggaat tcattctggt ctctctatta ccactgaaga tagaagaaaa aagaatgtca
     1501 gaaaaacaat aagagcgttt gcccaaatct gcctattgca gctgggagaa gggggtcaaa
     1561 gcaaggatct ttcacccaca gaaagagagc actgaccccg atggcgatgg actactgaag
     1621 ccctaactca gccaacctta cttacagcat aagggagcgt agaatctgtg tagacgaagg
     1681 gggcatctgg ccttacacct cgttagggaa gagaaacagg gtgttgtcag catcttctca
     1741 ctcccttctc cttgataaca gctaccatga caaccctgtg gtttccaagg agctgagaat
     1801 agaaggaaac tagcttacat gagaacagac tggcctgagg agcagcagtt gctggtggct
     1861 aatggtgtaa cctgagatgg ccctctggta gacacaggat agataactct ttggatagca
     1921 tgtctttttt tctgttaatt agttgtgtac tctggcctct gtcatatctt cacaatggtg
     1981 ctcatttcat ggggtattat ccattcagtc atcgtaggtg atttgaaggt cttgatttgt
     2041 tttagaatga tgcacatttc atgtattcca gtttgtttat tacttatttg gggttgcatc
     2101 agaaatgtct ggagaataat tctttgatta tgactgtttt ttaaactagg aaaattggac
     2161 attaagcatc acaaatgata ttaaaaattg gctagttgaa tctattggga ttttctacaa
     2221 gtattctgcc tttgcagaaa cagatttggt gaatttgaat ctcaatttga gtaatctgat
     2281 cgttctttct agctaatgga aaatgatttt acttagcaat gttatcttgg tgtgttaaga
     2341 gttaggttta acataaaggt tattttctcc tgatatagat cacataacag aatgcaccag
     2401 tcatcagcta ttcagttggt aagcttccag gaaaaaggac aggcagaaag agtttgagac
     2461 ctgaatagct cccagatttc agtcttttcc tgtttttgtt aactttgggt taaaaaaaaa
     2521 aaaagtctga ttggttttaa ttgaaggaaa gatttgtact acagttcttt tgttgtaaag
     2581 agttgtgttg ttcttttccc ccaaagtggt ttcagcaata tttaaggaga tgtaagagct
     2641 ttacaaaaag acacttgata cttgttttca aaccagtata caagataagc ttccaggctg
     2701 catagaagga ggagagggaa aatgttttgt aagaaaccaa tcaagataaa ggacagtgaa
     2761 gtaatccgta ccttgtgttt tgttttgatt taataacata acaaataacc aacccttccc
     2821 tgaaaacctc acatgcatac atacacatat atacacacac aaagagagtt aatcaactga
     2881 aagtgtttcc ttcatttctg atatagaatt gcaattttaa cacacataaa ggataaactt
     2941 ttagaaactt atcttacaaa gtgtatttta taaaattaaa gaaaataaaa ttaagaatgt
     3001 tctcaatcaa a
//
