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PLEC Gene

protein-coding   GIFtS: 61
GCID: GC08M144989

Plectin

(Previous names: plectin 1, intermediate filament binding protein, 500kD,...)
(Previous symbols: EBS1, PLEC1)
  See PLEC-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)
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Aliases
plectin1 2     PCN2 3
PLEC11 2 3 5     LGMD2Q2 5
EBS11 2 5     Epidermolysis Bullosa Simplex 1 (Ogna)1
PLTN2 3 5     Plectin 1, Intermediate Filament Binding Protein, 500kD1
Plectin 1, Intermediate Filament Binding Protein 500kDa1 2     EBSO2
Hemidesmosomal Protein 12 3     PLEC1b2
HD12 3     Plectin-13

External Ids:    HGNC: 90691   Entrez Gene: 53392   Ensembl: ENSG000001782097   OMIM: 6012825   UniProtKB: Q151493   

Export aliases for PLEC gene to outside databases

Previous GC identifer: GC08M140243


(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 PLEC Gene:
Plectin is a prominent member of an important family of structurally and in part functionally related proteins,
termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins,
with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue
integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding
platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547,
11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and
tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was
named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as
'hemidesmosomal protein 1' or 'plectin 1, intermediate filament binding 500kDa'. These names were superseded by
plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777),
revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5'
transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice
directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain
(ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two
additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain
(exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse
and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the
central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human
(PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different
first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As
the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of
development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set
(proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular
cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777,
12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa
simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in
the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS
have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID:
15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position
in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first
exons, in which case the position in the respective Reference Sequence should be used. (provided by RefSeq, Aug
2011)

GeneCards Summary for PLEC Gene:
PLEC (plectin) is a protein-coding gene. Diseases associated with PLEC include epidermolysis bullosa simplex, ogna type, and epidermolysis bullosa simplex with muscular dystrophy. GO annotations related to this gene include actin binding and ankyrin binding. An important paralog of this gene is DSP.

UniProtKB/Swiss-Prot: PLEC_HUMAN, Q15149
Function: Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate
filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in
muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics.
Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofibers integrity

Gene Wiki entry for PLEC (Plectin) 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 at NCBI GenBank:
NC_000008.10  NT_008046.17  NC_018919.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PLEC
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PLEC promoter sequence
   Search Chromatin IP Primers for PLEC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEC


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

Entrez Gene cytogenetic band: 8q24   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M144989:  view genomic region     (about GC identifiers)

Start:
144,989,321 bp from pter      End:
145,050,913 bp from pter
Size:
61,593 bases      Orientation:
minus strand

1 alternative location:
Chr8-,NW_003315923 253,798-315,390     

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PLEC_HUMAN, Q15149 (See protein sequence)
Recommended Name: Plectin  
Size: 4684 amino acids; 531791 Da
Subunit: Homodimer or homotetramer. Interacts (via actin-binding domain) with SYNE3. Interacts (via CH 1 domain)
with VIM (via rod region). Interacts with FER (By similarity). Interacts with COL17A1 (via N-terminus). Interacts
(via N-terminus) with DST isoform 1 (via N-terminus)
Selected PDB 3D structures from and Proteopedia for PLEC (see all 7):
1MB8 (3D)        2ODU (3D)        2ODV (3D)        3F7P (3D)        3PDY (3D)        3PE0 (3D)    
Secondary accessions: Q15148 Q16640 Q6S376 Q6S377 Q6S378 Q6S379 Q6S380 Q6S381 Q6S382 Q6S383
Alternative splicing: 9 isoforms:  Q15149-1   Q15149-2   Q15149-3   Q15149-4   Q15149-5   Q15149-6   Q15149-7   Q15149-8   
Q15149-9   (Contains a phosphotyrosine at position 26 (By similarity). Contains a phosphoserine at position 21. Contains a phosphoserine at position 20)

Explore the universe of human proteins at neXtProt for PLEC: NX_Q15149

Explore proteomics data for PLEC at MOPED

Post-translational modifications: 

  • Phosphorylated by CDK1; regulates dissociation from intermediate filaments during mitosis (By similarity)1
  • Ubiquitination2 at Lys1210
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (8 alternative transcripts): 
    NP_000436.2  NP_958780.1  NP_958781.1  NP_958782.1  NP_958783.1  NP_958784.1  NP_958785.1  NP_958786.1  

    ENSEMBL proteins: 
     ENSP00000344848   ENSP00000350277   ENSP00000346602   ENSP00000381756   ENSP00000323856  
     ENSP00000347044   ENSP00000348702   ENSP00000388180   ENSP00000434583   ENSP00000433982  
     ENSP00000437303   ENSP00000433557   ENSP00000434490   ENSP00000436702  
    Reactome Protein details: Q15149

    PLEC Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for PLEC
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    Novus Biologicals PLEC Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PLEC

     
    Search eBioscience for Proteins for PLEC 

    PLEC Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Cell Signaling Technology (CST) Antibodies for PLEC  (plectin 1)
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    Novus Biologicals PLEC Antibodies
    Search for Antibodies for PLEC at Abcam
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    ThermoFisher Antibodies for PLEC
    LSBio Antibodies in human, mouse, rat for PLEC

    PLEC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PLEC
    Cloud-Clone Corp. CLIAs for PLEC
    Search eBioscience for ELISAs for PLEC 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR005326 S10_plectin_N
     IPR018159 Spectrin/alpha-actinin
     IPR001101 Plectin_repeat
     IPR001715 CH-domain
     IPR001589 Actinin_actin-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q15149

    ProtoNet protein and cluster: Q15149

    5 Blocks protein domains:
    IPB001101 Plectin repeat
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB002017 Spectrin repeat
    IPB005326 Plectin/S10


    UniProtKB/Swiss-Prot: PLEC_HUMAN, Q15149
    Domain: The N-terminus interacts with actin, the C-terminus with vimentin, desmin, GFAP, cytokeratins, lamin B;
    whereas both the N- and the C-terminus can bind integrin beta-4
    Similarity: Belongs to the plakin or cytolinker family
    Similarity: Contains 1 actin-binding domain
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 33 plectin repeats
    Similarity: Contains 4 spectrin repeats


    Find genes that share domains with PLEC           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLEC_HUMAN, Q15149
    Function: Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate
    filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in
    muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics.
    Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofibers integrity

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI12482924
    GO:0008307structural constituent of muscle TAS8696340
    GO:0030506ankyrin binding IPI--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with PLEC           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for PLEC:
     Decreased TP53 protein express  Decreased focal adhesion (FA)   Decreased homologous recombina  Decreased viability with pacli 

         12 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Plec):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     nervous system  normal 

    Find genes that share phenotypes with PLEC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PLEC: Plec/Parp10Plec/tm1.1Gwi Plectm1Gwi Plectm3Gwi Plectm5Gwi Plectm6Gwi Plectm2Gwi
                                                         Plectm4.1Gwi

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLEC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PLEC

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PLEC:
    hsa-mir-769-3p (MIRT039118), hsa-mir-7-5p (MIRT004076), hsa-mir-124-3p (MIRT023142), hsa-mir-615-3p (MIRT040211), hsa-mir-16-5p (MIRT032043)

    Block miRNA regulation of human, mouse, rat PLEC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PLEC (see all 18):
    hsa-miR-3678-3p hsa-miR-330-5p hsa-miR-650 hsa-miR-124 hsa-miR-889 hsa-miR-326 hsa-miR-506 hsa-miR-3612
    SwitchGear 3'UTR luciferase reporter plasmidPLEC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PLEC
    Predesigned siRNA for gene silencing in human, mouse, rat PLEC

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

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 8): PLEC (NM_201380)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEC
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PLEC

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


    (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
    PLEC_HUMAN, Q15149: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ----
    GO:0005886plasma membrane NAS8633055
    GO:0005925focal adhesion IDA--

    Find genes that share ontologies with PLEC           About GenesLikeMe


    (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 PLEC About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Alpha6-Beta4 Integrin Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway
    Type I hemidesmosome assembly0.00
    2Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Caspase-mediated cleavage of cytoskeletal proteins0.00
    Apoptotic execution phase0.74
    3Collagen biosynthesis and modifying enzymes
    Collagen formation0.75
    Assembly of collagen fibrils and other multimeric structures0.62
    4Cell junction organization
    Cell junction organization0.70
    Cell-Cell communication0.64
    5CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.38


    Find genes that share SuperPaths with PLEC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for PLEC
        Cytoskeletal Signaling
    Adhesion

    2 GeneGo (Thomson Reuters) Pathways for PLEC
        Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Neurofilaments

    2 BioSystems Pathways for PLEC
        EGFR1 Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway

    3 Reactome Pathways for PLEC
        Type I hemidesmosome assembly
    Assembly of collagen fibrils and other multimeric structures
    Caspase-mediated cleavage of cytoskeletal proteins


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PLEC: 
              Cell Junction PathwayFinder in human mouse rat
              Focal Adhesions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PLEC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PLEC (Q151491, 2, 3 ENSP000003238564) via UniProtKB, MINT, STRING, and/or I2D (see all 919)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGB4P161441, 2, 3, ENSP000002001814EBI-297903,EBI-948678 MINT-7234231 MINT-7234308 MINT-7234276 MINT-7234245 MINT-7234341 MINT-7234186 MINT-7234259 MINT-7234326 MINT-7234292 MINT-7234199 MINT-7234217 I2D: score=2 STRING: ENSP00000200181
    RANBP2P497922, 3MINT-7947479 MINT-7945693 I2D: score=2 
    SQSTM1Q135012, 3, ENSP000003744554MINT-7945693 I2D: score=2 STRING: ENSP00000374455
    FUSP356371, 2EBI-297903,EBI-400434 MINT-7947479 MINT-7945693
    SMAD9O151982, 3MINT-62106 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0031581hemidesmosome assembly TAS--
    GO:0034329cell junction assembly TAS--

    Find genes that share ontologies with PLEC           About GenesLikeMe



    (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 PLEC



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PLEC gene (8 alternative transcripts): 
    NM_000445.4  NM_201378.3  NM_201379.2  NM_201380.3  NM_201381.2  NM_201382.3  NM_201383.2  NM_201384.2  

    Unigene Cluster for PLEC:

    Plectin
    Hs.434248  [show with all ESTs]
    Unigene Representative Sequence: NM_201380
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000345136(uc003zab.1) ENST00000357649(uc003zac.1) ENST00000354589(uc003zad.2)
    ENST00000398774(uc003zae.1) ENST00000322810(uc003zaf.1) ENST00000354958(uc003zag.1)
    ENST00000356346(uc003zah.2) ENST00000436759(uc003zaj.2) ENST00000527096
    ENST00000527303 ENST00000528025 ENST00000526416 ENST00000527816 ENST00000528131
    ENST00000532346
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PLEC (see all 18):
    hsa-miR-3678-3p hsa-miR-330-5p hsa-miR-650 hsa-miR-124 hsa-miR-889 hsa-miR-326 hsa-miR-506 hsa-miR-3612
    SwitchGear 3'UTR luciferase reporter plasmidPLEC 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PLEC
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): PLEC (NM_201380)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PLEC
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PLEC
      QuantiFast Probe-based Assays in human, mouse, rat PLEC

    Additional mRNA sequence: 

    AF330791.1 AF330792.1 AY480044.1 AY480045.1 AY480046.1 AY480047.1 AY480048.1 AY480049.1 
    AY480050.1 AY480051.1 BC007597.1 BC013206.1 U53204.1 X97053.1 

    20 DOTS entries:

    DT.95338061  DT.102834067  DT.102834068  DT.95122503  DT.86837117  DT.102834069  DT.102834066  DT.449006 
    DT.95249182  DT.95223594  DT.100039070  DT.100039065  DT.100804196  DT.100820182  DT.87017549  DT.92450822 
    DT.92450823  DT.95249167  DT.86839709  DT.91907870 

    Selected AceView cDNA sequences (see all 561):

    BM021879 BM725065 BE311658 BQ889180 NM_201379 NM_201384 BF765692 BM678729 
    BM830944 BU149861 BI909235 BU148502 BU196297 BQ016349 BI917219 BM769794 
    NM_201378 BI029089 AI522324 BP363136 BC013206 AY480044 BU741966 CD608554 

    GeneLoc Exon Structure


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


    PLEC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
     
     Epidermis (Integumentary System)
     
     Fibroblasts (Uncategorized)
    PLEC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLEC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.434248

    UniProtKB/Swiss-Prot: PLEC_HUMAN, Q15149
    Tissue specificity: Widely expressed with highest levels in muscle, heart, placenta and spinal cord

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    (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 eukaryotes.

    Orthologs for PLEC gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plec1 , 5 plectin1, 5 87(n)1
    93.87(a)1
      15 (35.48 cM)5
    188101  NM_001163542.11  NP_001157014.11 
     761709755 
    lizard
    (Anolis carolinensis)
    Reptilia PLEC6
    plectin
    75(a)
    1 ↔ 1
    GL343975.1(634-51728)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985872 similar to plectin 76.65(n)    BC048220.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pleca1 plectin a 62.29(n)
    64.47(a)
      567639  NM_001100032.1  NP_001093502.1 
    rice
    (Oryza sativa)
    Liliopsida AK120588.12   -- 69.28(n)    AK120588.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLEC gene
    DSP2  MACF12  EVPLL2  EVPL2  EPPK12  PPL2  DST2  
    16 SIMAP similar genes for PLEC using alignment to 6 protein entries:     PLEC_HUMAN (see all proteins):
    PLEC1    DST    ACF7    MACF1    HSpTB1    SPTBN2
    DMD    CLMN    ACTN1    FLNA    DKFZp434G0719    SYNE1
    RPS10    SYNE2    RPS10P5    SPTBN1

    Find genes that share paralogs with PLEC           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for PLEC
    PGOHUM00000250536 PGOHUM00000245872


    (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 PLEC (see all 2342)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0158174
    Epidermolysis bullosa simplex, Ogna type (O-EBS)4--see VAR_0158172 R W mis40--------
    rs803387561,2
    Cpathogenic1145259231(-) GGCAGC/TGGCAG 16 R W mis10--------
    rs1464069791,2
    Cuntested1145255080(+) ACCCCA/GGAAGC 16 S syn10--------
    rs737155611,2
    C,F--140259645(+) CCTCAT/CTCCCC 8 -- int16Minor allele frequency- C:0.42WA CSA 128
    rs625225561,2
    C,F--140259654(+) CCCCTT/CGGCTG 8 -- int14Minor allele frequency- C:0.27NA EA 244
    rs1466588751,2
    --140259707(+) CTCCAA/GTTGCC 8 -- int10--------
    rs3768537841,2
    C--140259892(+) GCACA-/CCCCCC 8 -- int10--------
    rs1432938501,2
    C--140267368(+) GCAGT-/CTCCCC 8 -- int10--------
    rs58957921,2
    C--140268191(-) TCCCC-/CTGTGTC 7 -- int10--------
    rs1433089931,2
    --140280215(+) CCTGG-/CCCCAG 3 -- int10--------

    HapMap Linkage Disequilibrium report for PLEC (144989321 - 145050913 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLEC (see all 32):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658236CNV Deletion23128226
    esv2738044CNV Deletion23290073
    esv2738045CNV Deletion23290073
    nsv6445CNV Insertion18451855
    dgv7949n71CNV Loss21882294
    dgv7950n71CNV Loss21882294
    dgv906n27CNV Loss19166990
    nsv819867CNV Loss19587683
    dgv7939n71CNV Loss21882294
    dgv7947n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): PLEC
    Locus Specific Mutation Databases (LSDB): PLEC

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601282   
    OMIM disorders: 226670  131950  612138  613723  
    UniProtKB/Swiss-Prot: PLEC_HUMAN, Q15149
  • Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:612138]: Autosomal recessive
    genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually
    occurs in infancy. This disorder is allelic to MD-EBS. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Epidermolysis bullosa simplex, with muscular dystrophy (MD-EBS) [MIM:226670]: A form of epidermolysis
    bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset
    muscular dystrophy. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Epidermolysis bullosa simplex, Ogna type (O-EBS) [MIM:131950]: A form of intraepidermal epidermolysis
    bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small
    hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS,
    WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal
    hemidesmosome intracellular attachment plates. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Limb-girdle muscular dystrophy 2Q (LGMD2Q) [MIM:613723]: A form of limb-girdle muscular dystrophy
    characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are
    characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical
    quadriceps femoris and biceps brachii atrophy. Note=The disease is caused by mutations affecting the gene
    represented in this entry. A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in
    limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and
    disorganization of the myofibers, without any effect on the skin

  • 9 diseases for PLEC:    
    About MalaCards
    epidermolysis bullosa simplex, ogna type    epidermolysis bullosa simplex with muscular dystrophy    plec1-related epidermolysis bullosa with pyloric atresia    epidermolysis bullosa simplex with pyloric atresia
    limb-girdle muscular dystrophy type 2q    epidermolysis bullosa with pyloric atresia    epidermolysis bullosa simplex    alexander disease
    epidermolysis bullosa

    2 diseases from the University of Copenhagen DISEASES database for PLEC:
    Epidermolysis bullosa     Muscular dystrophy

    Find genes that share disorders with PLEC           About GenesLikeMe

    9 Novoseek inferred disease relationships for PLEC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    md-ebs 98.6 8 8981021 (2), 8636409 (1), 10652002 (1), 8894687 (1) (see all 6)
    epidermolysis bullosa simplex 93.3 8 20016501 (1), 15681471 (1), 8894687 (1), 9470905 (1) (see all 8)
    epidermolysis bullosa 90.9 6 14675180 (1), 15206692 (1), 10652002 (1), 9886273 (1) (see all 6)
    pyloric atresia 89 3 15681471 (2), 20052759 (1)
    eb simplex 87.7 3 15810881 (1), 20052759 (1)
    muscular dystrophies 85.4 15 9470905 (2), 20016501 (1), 8981021 (1), 15206692 (1) (see all 14)
    pemphigoid bullous 44.1 3 10809861 (1), 8983017 (1)
    skin diseases 29.9 1 17989727 (1)
    carcinoma 9.09 1 7778688 (1)

    Genetic Association Database (GAD): PLEC

    Export disorders for PLEC 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 PLEC gene, integrated from 10 sources (see all 167):
    (articles sorted by number of sources associating them with PLEC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24). (PubMed id 8633055)1, 2, 3 Liu C.-G.... Wiche G. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    2. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. (PubMed id 8894687)1, 2, 9 Pulkkinen L.... Uitto J. (Hum. Mol. Genet. 1996)
    3. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. (PubMed id 8698233)1, 2, 9 McLean W.H.I....Uitto J. (Genes Dev. 1996)
    4. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (Nature 2011)
    5. Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. (PubMed id 20665883)1, 2 Natsuga K.... Shimizu H. (Hum. Mutat. 2010)
    6. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    7. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. (PubMed id 21109228)1, 2 Gundesli H.... Dincer P. (Am. J. Hum. Genet. 2010)
    8. BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin. (PubMed id 19932097)1, 2 Steiner-Champliaud M.F....Borradori L. (Exp. Cell Res. 2010)
    9. The structure of a tandem pair of spectrin repeats of plectin reveals a modular organization of the plakin domain. (PubMed id 17397861)1, 2 Sonnenberg A.... de Pereda J.M. (J. Mol. Biol. 2007)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (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: 5339 HGNC: 9069 AceView: PLEC1 Ensembl:ENSG00000178209 euGenes: HUgn5339
    ECgene: PLEC H-InvDB: PLEC

    (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 PLEC Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Plectin

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

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



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