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PLP1 Gene

protein-coding   GIFtS: 61
GCID: GC0XP103028

Proteolipid Protein 1

(Previous names: spastic paraplegia 2, uncomplicated)
(Previous symbols: SPG2, PLP)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Proteolipid Protein 11 2     GPM6C2
PLP1 2 3     MMPL2
SPG21 2 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 spastic quadriplegia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011651.18  
Regulatory elements:
   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 Chromatin IP Primers for PLP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201 (See protein sequence)
Recommended Name: Myelin proteolipid protein  
Size: 277 amino acids; 30077 Da
Sequence caution: Sequence=AAA60350.1; Type=Miscellaneous discrepancy; Note=The submitted sequence only contains
the last exon but the authors annotated a CDS including all exons of that gene; Sequence=AAD13880.1;
Type=Erroneous gene model prediction;
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PLP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    PLP1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate 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

    PLP1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PLP1
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    Abcam antibodies for PLP1
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    ThermoFisher Antibodies for PLP1
    LSBio Antibodies in human, mouse, rat for PLP1

    PLP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PLP1
    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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 

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

    PLP1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLP1
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       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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    Block miRNA regulation of human, mouse, rat PLP1 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for PLP1
    Predesigned siRNA for gene silencing in human, mouse, rat PLP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PLP1

    Clone
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    OriGene clones in human, mouse for PLP1 (see all 16)
    OriGene ORF clones in mouse, rat for PLP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PLP1 (NM_001024807)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLP1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PLP1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYPR_HUMAN, P60201: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    cytoskeleton1
    endosome1
    extracellular1
    golgi apparatus1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA--
    GO:0016021integral component of membrane IEA--
    GO:0043209myelin sheath IEA--

    PLP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PLP1 About                                                                                                See pathways by source

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


    2 BioSystems Pathways for PLP1
        SIDS Susceptibility Pathways
    Glial Cell Differentiation


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PLP1: 
              Multiple Sclerosis in human mouse rat
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PLP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for PLP1 (P602013 ENSP000003051524) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    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): Selected biological process terms (see all 11):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PLP1 (MYPR)

    Selected 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)



    PLP1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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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    Block miRNA regulation of human, mouse, rat PLP1 using miScript Target Protectors
    Selected qRT-PCR 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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    OriGene RNAi products in human, mouse, rat for PLP1
    Predesigned siRNA for gene silencing in human, mouse, rat PLP1
    Clone
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    OriGene clones in human, mouse for PLP1 (see all 16)
    OriGene ORF clones in mouse, rat for PLP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLP1
      QuantiTect SYBR Green Assays in human, mouse, rat PLP1
      QuantiFast Probe-based Assays in human, mouse, rat PLP1

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 786):

    AV726432 CB155008 BU150524 N68041 BU150440 F04208 NM_000533 F02244 
    AI073400 F08566 BE856291 BU190631 N63147 F02296 BM463036 N63333 
    F04773 AA393380 W35405 N79361 BQ722840 BM449743 BE389821 BQ425069 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
             B27-induced oligodendrocyte-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 5 entries
             Myelinating Oligodendrocyte Cells Spinal Cord White Matter
             B27-induced oligodendrocyte-like cells
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             Immature Schwann Cells Peripheral Nerve Domain
             Schwann-like cells
     
     Oligodendrocytes (Nervous System)    fully expand to see all 4 entries
             B27-induced oligodendrocyte-like cells
     
     Schwann Cells (Nervous System)    fully expand to see all 2 entries
             Schwann-like cells
    PLP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1787
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PLP1: 
              Multiple Sclerosis in human mouse rat
              Neurotoxicity in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PLP1
    OriGene qSTAR qPCR primer pairs in human, mouse for PLP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLP1
    QuantiTect SYBR Green Assays in human, mouse, rat PLP1
    QuantiFast Probe-based Assays in human, mouse, rat PLP1
    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PLP1 gene from Selected species (see all 15)    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 84(n)
    93.5(a)
      396214  NM_205277.1  NP_990608.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLP16
    proteolipid protein 1
    80(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 plp1a6
    plp1b6
    proteolipid protein 1b
    59(a)
    44(a)
    1 ↔ many
    1 ↔ many
    14(18477230-18496683) ENSDARG00000057770
    5(24937056-24949033) ENSDARG00000011929
    fruit fly
    (Drosophila melanogaster)
    Insecta M66
    M6
    17(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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PLP1 (see all 388)    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLP1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLP1

    (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.)
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    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

  • Selected diseases for PLP1 (see all 73):    About MalaCards
    pelizaeus-merzbacher disease    spastic quadriplegia    null syndrome    spastic paraplegia 2
    spastic paraplegia 2, x-linked    pelizaeus-merzbacher disease in female carriers    arena syndrome    pelizaeus-merzbacher disease, classic form
    plp1-related disorders    pelizaeus-merzbacher disease, transitional form    pelizaeus-merzbacher disease, connatal form    quadriplegia
    charcot-marie-tooth disease type x    optic neuritis    primary progressive multiple sclerosis    allergic encephalomyelitis
    cocaine abuse    autoimmune encephalitis    melancholia    neuritis

    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

    Selected 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)
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    PubMed articles for PLP1 gene, integrated from 10 sources (see all 427):
    (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-BarriA"re C. (Neurogenetics 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. (Neurology 1998)
    3. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PubMed id 15712223)1, 2, 9 Huebner C.A.... Gal A. (Hum. Mutat. 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. (J. Neurol. Sci. 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. (Eur. J. Hum. Genet. 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. (Am. J. Hum. Genet. 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. (J. Hum. Genet. 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. (Am. J. Hum. Genet. 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. (Am. J. Med. Genet. 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. (Neurology 2007)

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

      Query String
    PubMed
    OMIM
    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)
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    Entrez Gene: 5354 HGNC: 9086 AceView: PLP1 Ensembl:ENSG00000123560 euGenes: HUgn5354
    ECgene: PLP1 H-InvDB: PLP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PLP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PLP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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