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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PLP1 Gene

protein-coding   GIFtS: 62
GCID: GC0XP103028

Proteolipid Protein 1

(Previous names: spastic paraplegia 2, uncomplicated)
(Previous symbols: SPG2, PLP)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Proteolipid Protein 11 2     GPM6C2
PLP1 2 3     MMPL2
SPG21 2     PLP/DM202
HLD12 5     lipophilin2
PMD2 5     Major Myelin Proteolipid Protein2
Pelizaeus-Merzbacher Disease1     Myelin Proteolipid Protein2
Spastic Paraplegia 2, Uncomplicated1     Lipophilin3

External Ids:    HGNC: 90861   Entrez Gene: 53542   Ensembl: ENSG000001235607   OMIM: 3004015   UniProtKB: P602013   

Export aliases for PLP1 gene to outside databases

Previous GC identifers: GC0XP098333 GC0XP099940 GC0XP101064 GC0XP101803 GC0XP102837 GC0XP102918 GC0XP092687


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLP1 Gene:
This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the
central nervous system. It 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 X-linked
Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding
distinct isoforms or having different 5' UTRs, have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PLP1 Gene: 
PLP1 (proteolipid protein 1) is a protein-coding gene. Diseases associated with PLP1 include pelizaeus-merzbacher disease, and plp1-related disorders. GO annotations related to this gene include structural molecule activity and structural constituent of myelin sheath. An important paralog of this gene is GPM6A.

UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201
Function: This is the major myelin protein from the central nervous system. It plays an important role in the
formation or maintenance of the multilamellar structure of myelin

Gene Wiki entry for PLP1 (Proteolipid protein 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLP1 gene promoter:
         Nkx3-1 v2   Nkx3-1   HEN1   Nkx3-1 v1   Nkx2-5   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PLP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22   Ensembl cytogenetic band:  Xq22.2   HGNC cytogenetic band: Xq22

PLP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLP1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP103028:  view genomic region     (about GC identifiers)

Start:
103,028,647 bp from pter      End:
103,047,548 bp from pter
Size:
18,902 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201 (See protein sequence)
Recommended Name: Myelin proteolipid protein  
Size: 277 amino acids; 30077 Da
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for PLP1:
2XPG (3D)    
Secondary accessions: P04400 P06905 Q502Y1 Q6FHZ6
Alternative splicing: 2 isoforms:  P60201-1   P60201-2   

Explore the universe of human proteins at neXtProt for PLP1: NX_P60201

Explore proteomics data for PLP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P60201

  • PLP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PLP1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000524.3  NP_001122306.1  NP_955772.1  

    ENSEMBL proteins: 
     ENSP00000403335   ENSP00000399913   ENSP00000409802   ENSP00000413931   ENSP00000393391  
     ENSP00000391853   ENSP00000305152   ENSP00000354860   ENSP00000405750  

    Human Recombinant Protein Products for PLP1: 
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    Novus Biologicals PLP1 Protein
    Novus Biologicals PLP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PLP1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--
    GO:0043209myelin sheath IEA--

    PLP1 for ontologies           About GeneDecksing



    PLP1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PLP1 

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PLP1 
    Cloud-Clone Corp. CLIAs for PLP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001614 Myelin_PLP
     IPR018237 Myelin_PLP_CS

    Graphical View of Domain Structure for InterPro Entry P60201

    ProtoNet protein and cluster: P60201

    UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201
    Similarity: Belongs to the myelin proteolipid protein family


    PLP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYPR_HUMAN, P60201
    Function: This is the major myelin protein from the central nervous system. It plays an important role in the
    formation or maintenance of the multilamellar structure of myelin

         Genatlas biochemistry entry for PLP1:
    CNS myelin proteolipid protein (lipophilin),structural major protein expressed in myelin,also expressed in Schwann
    cell

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS2479017
    GO:0005515protein binding ----
    GO:0019911structural constituent of myelin sheath IEA--
         
    PLP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PLP1:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Plp1):
     behavior/neurological  cellular  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     reproductive system  vision/eye 

    PLP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PLP1: Plp1tm1Wst Plp1tm3Wst Plp1tm1Kan Plp1tm2Wst Plp1tm1Gow

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PLP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PLP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLP1 

    miRNA
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    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate PLP1 (see all 47):
    hsa-miR-26a-2* hsa-miR-29a hsa-miR-3074-3p hsa-miR-578 hsa-miR-570 hsa-miR-629* hsa-miR-30c-2* hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidPLP1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PLP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glial Cell Differentiation
    Glial Cell Differentiation
    2SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways


    2 BioSystems Pathways for PLP1
        SIDS Susceptibility Pathways
    Glial Cell Differentiation


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/13 Interacting proteins for PLP1 (P602013 ENSP000003051524) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALRP277973, ENSP000003208664I2D: score=1 STRING: ENSP00000320866
    ITGAVP067563, ENSP000002610234I2D: score=1 STRING: ENSP00000261023
    MBPP026863, ENSP000003482734I2D: score=2 STRING: ENSP00000348273
    CANXP278243, ENSP000002474614I2D: score=1 STRING: ENSP00000247461
    DLG4P783523I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007229integrin-mediated signaling pathway IEA--
    GO:0007268synaptic transmission TAS2479017
    GO:0008219cell death IEA--
    GO:0008366axon ensheathment TAS2479017
    GO:0010001glial cell differentiation ----

    PLP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PLP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PLP1 (MYPR)

    10/32 Novoseek inferred chemical compound relationships for PLP1 gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2',3'-cyclic nucleotide 80.9 12 8416742 (1), 1383426 (1), 19187445 (1), 19473295 (1) (see all 10)
    2-chloroethanol 54.8 2 7516154 (1), 1700070 (1)
    n-acetylaspartate 43.3 4 11274318 (1), 11872612 (1), 11805250 (1)
    zma 43.1 2 8012387 (1), 12210342 (1)
    dimyristoylphosphatidylcholine 42.1 4 8386549 (1), 12512771 (1), 7682453 (1), 10587458 (1)
    glatiramer acetate 35 5 8965119 (2), 9846830 (2), 8965116 (1)
    sulfatide 25.9 1 9482258 (1)
    inositol 18.1 3 8910382 (2)
    lipid 12.4 16 9858696 (4), 2223804 (2), 15670733 (2), 2161249 (1) (see all 10)
    hydroxylamine 10.8 1 1700070 (1)

    Search CenterWatch for drugs/clinical trials and news about PLP1 / MYPR

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PLP1 gene (3 alternative transcripts): 
    NM_000533.3  NM_001128834.1  NM_199478.1  

    Unigene Cluster for PLP1:

    Proteolipid protein 1
    Hs.1787  [show with all ESTs]
    Unigene Representative Sequence: NM_001128834
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000434483 ENST00000429977 ENST00000455268 ENST00000422393 ENST00000433491
    ENST00000443502 ENST00000303958(uc004elk.3 uc011msf.2 uc010nox.3)
    ENST00000361621(uc004elj.3) ENST00000464776 ENST00000494475 ENST00000465975
    ENST00000480325 ENST00000485931(uc010now.1) ENST00000495678 ENST00000479569
    ENST00000485688 ENST00000478642 ENST00000476160

    miRNA
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    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate PLP1 (see all 47):
    hsa-miR-26a-2* hsa-miR-29a hsa-miR-3074-3p hsa-miR-578 hsa-miR-570 hsa-miR-629* hsa-miR-30c-2* hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidPLP1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PLP1 (NM_001024807)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLP1
    Sirion Biotech Customized lentivirus for stable overexpression of PLP1 
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    Primer
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    Additional mRNA sequence: 

    AK128782.1 AK292728.1 AK295374.1 AK295388.1 AK308966.1 AK309239.1 AK312340.1 BC002665.1 
    BC095452.1 BT019601.1 BT019602.1 CR536542.1 M17085.1 M27110.1 M54927.1 

    24/74 DOTS entries (see all 74):

    DT.101957760  DT.449979  DT.92459596  DT.100792568  DT.100742968  DT.100792566  DT.100775555  DT.101954984 
    DT.121300866  DT.121300831  DT.100792561  DT.101976431  DT.121300943  DT.91677241  DT.121300854  DT.95197715 
    DT.121300926  DT.121300894  DT.92459588  DT.121300934  DT.92459589  DT.95113028  DT.100792567  DT.121300942 

    24/786 AceView cDNA sequences (see all 786):

    BU154828 BG152647 CD676606 F05230 BP360646 BQ434427 AL533256 N57565 
    AV729606 BM679386 BX953157 BX952147 CR605012 F03855 AA348715 BI491298 
    N63952 AA911977 BP361231 T16553 BQ716877 BQ717999 AU120881 N75767 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for PLP1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c ^ 10a ·
    SP1:                          -     -                       -     -                 -     -     -     -     -                                         -     -   
    SP2:                          -     -                       -     -                       -     -     -     -                                         -     -   
    SP3:                          -     -                       -     -                       -     -     -     -                                                   
    SP4:                                                                                                                                                  -     -   
    SP5:                                                        -     -                       -     -     -     -                                                   

    ExUns: 10b · 10c ^ 11a · 11b · 11c · 11d
    SP1:  -                                 
    SP2:  -                                 
    SP3:                                    
    SP4:  -                                 
    SP5:                                    


    ECgene alternative splicing isoforms for PLP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PLP1 expression in normal human tissues (normalized intensities)      PLP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATACATACA
    PLP1 Expression
    About this image


    PLP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/25 selected tissues (see all 25) fully expand
     
     Brain (Nervous System)    fully expand to see all 29 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Thalamus
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             Globus Pallidus   
     
     Spinal Cord (Nervous System)    fully expand to see all 6 entries
             Myelinating Oligodendrocyte Cells Spinal Cord White Matter
             Superior Cervical Ganglion   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             Myelinating Schwann Cells Peripheral Nerve Domain
             spinal/ganglion/dorsal root ganglion   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See PLP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLP1

    SOURCE GeneReport for Unigene cluster: Hs.1787
        SABiosciences Expression via Pathway-Focused PCR Arrays including PLP1: 
              Multiple Sclerosis in human mouse rat
              Neurotoxicity in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PLP1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plp11 , 5 proteolipid protein (myelin) 11, 5 96.99(n)1
    100(a)1
      X (59.10 cM)5
    188231  NM_011123.21  NP_035253.11 
     1368226715 
    chicken
    (Gallus gallus)
    Aves PLP11 proteolipid protein 1 (Pelizaeus-Merzbacher disease, more 84(n)
    93.5(a)
      396214  NM_205277.1  NP_990608.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLP16
    proteolipid protein 1
    79(a)
    1 ↔ 1
    GL343686.1(94091-101247)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3983342 myelin proteolipid protein (PLP) 77.7(n)    Z19522.1 
    zebrafish
    (Danio rerio)
    Actinopterygii plp1a1 proteolipid protein 1a 61.2(n)
    60.5(a)
      64264  NM_175576.2  NP_783166.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta M66
    M6
    16(a)
    1 → many
    3L(21500952-21505849)


    ENSEMBL Gene Tree for PLP1 (if available)
    TreeFam Gene Tree for PLP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PLP1 gene
    GPM6A2  GPM6B2  
    3 SIMAP similar genes for PLP1 using alignment to 8 protein entries:     MYPR_HUMAN (see all proteins):
    PLP    GPM6B    GPM6A

    PLP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/387 SNPs in PLP1 are shown (see all 387)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0150374
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0150372 R G mis40--------
    VAR_0045634
    Spastic paraplegia 2, X-linked (SPG2)4--see VAR_0045632 F S mis40--------
    VAR_0150504
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0150502 G E mis40--------
    VAR_0150384
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0150382 Y C mis40--------
    VAR_0469094
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0469092 A P mis40--------
    VAR_0150334
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0150332 T N mis40--------
    VAR_0150394
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0150392 V D mis40--------
    VAR_0045624
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0045622 L P mis40--------
    VAR_0045584
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0045582 P S mis40--------
    VAR_0150324
    Leukodystrophy, hypomyelinating, 1 (HLD1)4--see VAR_0150322 W C mis40--------

    HapMap Linkage Disequilibrium report for PLP1 (103028647 - 103047548 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PLP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv7229OTHER Inversion19470904


    Human Gene Mutation Database (HGMD): PLP1

    Locus Specific Mutation Databases (LSDB): PLP1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300401   
    OMIM disorders: 312080  312920  
    UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201
  • Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]: A X-linked recessive disorder of the central
    nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic
    quadriplegia, ataxia, and developmental delay. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]: A form of spastic paraplegia, a neurodegenerative
    disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of
    progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with
    balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of
    the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to
    other parts of the body. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating
    features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 20/65 diseases for PLP1 (see all 65):    About MalaCards
    pelizaeus-merzbacher disease    plp1-related disorders    spastic paraplegia 2    arena syndrome
    spastic quadriplegia    null syndrome    pelizaeus-merzbacher disease in female carriers    pelizaeus-merzbacher disease, classic form
    pelizaeus-merzbacher disease, transitional form    quadriplegia    pelizaeus-merzbacher disease, connatal form    charcot-marie-tooth disease type x
    cocaine abuse    optic neuritis    allergic encephalomyelitis    neuritis
    melancholia    acid sphingomyelinase deficiency    guillain-barre syndrome    paraplegia

    3 diseases from the University of Copenhagen DISEASES database for PLP1:
    Pelizaeus-Merzbacher disease     Paraplegia     Multiple sclerosis

    PLP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/41 Novoseek inferred disease relationships for PLP1 gene (see all 41)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pelizaeus-merzbacher disease 98.6 147 7574457 (3), 1376553 (2), 7684886 (2), 16774974 (2) (see all 99)
    spastic paraplegia 90.7 31 16374829 (2), 7541901 (1), 9268109 (1), 16287154 (1) (see all 25)
    leukodystrophy 85.3 19 1376966 (2), 19562355 (1), 10401787 (1), 18470932 (1) (see all 12)
    multiple sclerosis 80.8 66 7515411 (3), 1711538 (3), 10613824 (2), 1374422 (2) (see all 43)
    encephalomyelitis 78.4 27 8965116 (1), 10613824 (1), 7532182 (1), 1462126 (1) (see all 20)
    demyelinating diseases 75.5 12 1701788 (1), 10493736 (1), 12355425 (1), 1462126 (1) (see all 10)
    demyelination 72.6 9 7528355 (2), 9590558 (1), 7545859 (1), 10683517 (1) (see all 7)
    optic neuritis 57.6 8 7515411 (2), 1373123 (2), 7510787 (1), 7510098 (1) (see all 5)
    spastic quadriplegia 55.3 1 18437021 (1)
    spastic paraplegia hereditary 55.1 3 7643352 (1), 19955111 (1)

    GeneTests: PLP1
    GeneReviews: PLP1
    Genetic Association Database (GAD): PLP1
    Human Genome Epidemiology (HuGE) Navigator: PLP1 (4 documents)

    Export disorders for PLP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PLP1 gene, integrated from 9 sources (see all 425):
    (articles sorted by number of sources associating them with PLP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. (PubMed id 16416265)1, 4, 9 Combes P....Vaurs-Barriere C. (2006)
    2. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. (PubMed id 9633722)1, 2, 9 Sistermans E.A.... Van Oost B.A. (1998)
    3. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PubMed id 15712223)1, 2, 9 Huebner C.A.... Gal A. (2005)
    4. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. (PubMed id 15450775)1, 2, 9 Lee E.S....Hobson G.M. (2004)
    5. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. (PubMed id 11093273)1, 2, 9 Cailloux F.... Voit T. (2000)
    6. Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred. (PubMed id 7684886)1, 2, 9 Pratt V.M....Dlouhy S.R. (1993)
    7. Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein 'PLP' gene. (PubMed id 9747038)1, 2, 9 Nagao M. and Kadowaki J. (1998)
    8. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. (PubMed id 1376966)1, 2, 9 Doll R.... Smith F.I. (1992)
    9. A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. (PubMed id 1707231)1, 2, 9 Pratt V.M....Hodes M.E. (1991)
    10. Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. (PubMed id 17438221)1, 2, 9 Gorman M.P.... Eksioglu Y.Z. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5354 HGNC: 9086 AceView: PLP1 Ensembl:ENSG00000123560 euGenes: HUgn5354
    ECgene: PLP1 H-InvDB: PLP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PLP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PLP1 gene:
    Search GeneIP for patents involving PLP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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