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    PLP1 proteolipid protein 1 [ Homo sapiens (human) ]

    Gene ID: 5354, updated on 26-Jun-2015
    Official Symbol
    PLP1provided by HGNC
    Official Full Name
    proteolipid protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9086
    See related
    Ensembl:ENSG00000123560; HPRD:02321; MIM:300401; Vega:OTTHUMG00000022111
    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
    PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20
    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]
    Orthologs
    See PLP1 in Epigenomics, MapViewer
    Location:
    Xq22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (103776506..103792619)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103031439..103047548)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mortality factor 4 like 2 Neighboring gene MORF4L2 antisense RNA 1 Neighboring gene glycine receptor, alpha 4 Neighboring gene transmembrane protein 31 Neighboring gene uncharacterized LOC101928286 Neighboring gene RAB9B, member RAS oncogene family Neighboring gene RNA, 5S ribosomal pseudogene 511

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Pelizaeus-Merzbacher disease
    MedGen: C0205711 OMIM: 312080 GeneReviews: PLP1-Related Disorders
    Compare labs
    Spastic paraplegia 2
    MedGen: C1839264 OMIM: 312920 GeneReviews: PLP1-Related Disorders
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

    ClinGen Genome Curation Page
    Triplosensitivity

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

    ClinGen Genome Curation Page
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    astrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    axon development IEA
    Inferred from Electronic Annotation
    more info
     
    axon ensheathment TAS
    Traceable Author Statement
    more info
    PubMed 
    cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system myelination IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    long-chain fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    substantia nigra development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane 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 
    Preferred Names
    myelin proteolipid protein
    Names
    myelin proteolipid protein
    lipophilin
    major myelin proteolipid 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_008863.2 RefSeqGene

      Range
      4996..21109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000533.4NP_000524.3  myelin proteolipid protein isoform 1

      See identical proteins and their annotated locations for NP_000524.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as PLP) encodes the longest isoform (1). Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AK292728, BC095452, DA299940
      Consensus CDS
      CCDS14513.1
      UniProtKB/TrEMBL
      A8K9L3
      UniProtKB/Swiss-Prot
      P60201
      Related
      ENSP00000484450, OTTHUMP00000276744, ENST00000621218, OTTHUMT00000057743
      Conserved Domains (1) summary
      pfam01275
      Location:2277
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
    2. NM_001128834.2NP_001122306.1  myelin proteolipid protein isoform 1

      See identical proteins and their annotated locations for NP_001122306.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AK292728, BC095452, DC342197
      Consensus CDS
      CCDS14513.1
      UniProtKB/TrEMBL
      A8K9L3
      UniProtKB/Swiss-Prot
      P60201
      Related
      ENSP00000481006, ENST00000612423
      Conserved Domains (1) summary
      pfam01275
      Location:2277
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
    3. NM_001305004.1NP_001291933.1  myelin proteolipid protein isoform 3

      See identical proteins and their annotated locations for NP_001291933.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has a shorter 5' UTR and uses an alternate in-frame acceptor site compared to variant 1. It encodes a shorter isoform (3) than isoform 1.
      Source sequence(s)
      AK292728, AK295388, BC095452, DC342996
      Conserved Domains (1) summary
      cl02417
      Location:1222
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
    4. NM_199478.2NP_955772.1  myelin proteolipid protein isoform 2

      See identical proteins and their annotated locations for NP_955772.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as DM20) uses an alternate in-frame donor splice site compared to variant 1. It encodes a shorter isoform (2) than isoform 1.
      Source sequence(s)
      AK292728, BC095452, DA299940
      Consensus CDS
      CCDS14514.1
      UniProtKB/TrEMBL
      A8K9L3
      UniProtKB/Swiss-Prot
      P60201
      Related
      ENSP00000477619, OTTHUMP00000276745, ENST00000619236, OTTHUMT00000057744
      Conserved Domains (1) summary
      pfam01275
      Location:2242
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      103776506..103792619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      102924421..102940535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)