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    PLP1 proteolipid protein 1 [ Homo sapiens (human) ]

    Gene ID: 5354, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PLP1provided by HGNC
    Official Full Name
    proteolipid protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9086
    See related
    Ensembl:ENSG00000123560 MIM:300401; AllianceGenome:HGNC:9086
    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]
    Expression
    Restricted expression toward brain (RPKM 1259.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See PLP1 in Genome Data Viewer
    Location:
    Xq22.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103776506..103792619)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102223463..102239585)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103031434..103047548)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MORF4L2 antisense RNA 1 Neighboring gene mortality factor 4 like 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:102951966-102952716 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:102952717-102953467 Neighboring gene glycine receptor alpha 4 (pseudogene) Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102985791-102986664 Neighboring gene transmembrane protein 31 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102996691-102997226 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102997227-102997764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103009420-103009920 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103020819-103021470 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:103022123-103022774 Neighboring gene RAB9B, member RAS oncogene family Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:103061708-103062907 Neighboring gene RNA, 5S ribosomal pseudogene 511 Neighboring gene TMSB15B antisense RNA 1 Neighboring gene H2B histone pseudogene 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2). Hodes ME, et al. Am J Med Genet, 1999 Jan 15. PMID 9934976
    2. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Inoue K, et al. Am J Hum Genet, 2002 Oct. PMID 12297985, Free PMC Article
    3. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene. Seeman P, et al. Int J Mol Med, 2002 Feb. PMID 11786921
    4. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Inoue K, et al. Ann Neurol, 2001 Dec. PMID 11761472
    5. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Cailloux F, et al. Eur J Hum Genet, 2000 Nov. PMID 11093273

    See all (190) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
      Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    2. PLP1 gene mutations cause spastic paraplegia type 2 in three families.
      Title: PLP1 gene mutations cause spastic paraplegia type 2 in three families.
    3. Identifying oligodendrocyte enhancers governing Plp1 expression.
      Title: Identifying oligodendrocyte enhancers governing Plp1 expression.
    4. Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.
      Title: Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.
    5. Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types.
      Title: Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types.
    6. These findings support the assumption that genetic variation in PLP1 affects white matter myelination in the healthy human brain.
      Title: Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1.
    7. demonstrate for the first time that the wmN1 enhancer region: (1) is functional in hPLP1
      Title: The wmN1 enhancer region in intron 1 is required for expression of human PLP1.
    8. PLP1 mutation is associated with hereditary spastic paraplegia.
      Title: Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
    9. Findings suggest that PLP1 and CNTN1 gene variations modulate specific aspects of callosal microstructure that are in line with their gene function.
      Title: PLP1 and CNTN1 gene variation modulates the microstructure of human white matter in the corpus callosum.
    10. three single nucleotide polymorphisms in PLP1 that were associated with interhemispheric integration via the corpus callosum in a previous study also are relevant for functional hemispheric asymmetries.
      Title: PLP1 Gene Variation Modulates Leftward and Rightward Functional Hemispheric Asymmetries.
    Submit: New GeneRIF Correction See all GeneRIFs (82)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in AMPA selective glutamate receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in astrocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axon ensheathment TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in central nervous system myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in long-chain fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    part_of integrin alphav-beta3 complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    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 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myelin proteolipid protein
    Names
    lipophilin
    major myelin proteolipid protein

    NCBI Reference Sequences (RefSeq)

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    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
      5330..21109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000533.5 → NP_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/Swiss-Prot
      P04400, P06905, P60201, Q502Y1, Q6FHZ6
      UniProtKB/TrEMBL
      A8K9L3, B4DI21, E7EMV6
      Related
      ENSP00000484450.1, ENST00000621218.5
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 273
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    2. NM_001128834.3 → NP_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/Swiss-Prot
      P04400, P06905, P60201, Q502Y1, Q6FHZ6
      UniProtKB/TrEMBL
      A8K9L3, B4DI21, E7EMV6
      Related
      ENSP00000481006.1, ENST00000612423.4
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 273
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    3. NM_001305004.1 → NP_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
      UniProtKB/TrEMBL
      B4DI30
      Conserved Domains (1) summary
      pfam01275
      Location:2 → 218
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    4. NM_199478.3 → NP_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
      A0A0S2Z4D4, Q5U0F2, Q5U0F3
      Related
      ENSP00000477619.1, ENST00000619236.1
      Conserved Domains (1) summary
      pfam01275
      Location:5 → 238
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      102223463..102239585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60201.2 GenPept UniProtKB/Swiss-Prot:P60201

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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