Human Gene PLEC (uc003zae.1) Description and Page Index
  Description: Homo sapiens plectin (PLEC), transcript variant 7, mRNA.
RefSeq Summary (NM_201381): 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 These names were superseded by plectin.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].
Transcript (Including UTRs)
   Position: hg19 chr8:144,989,321-145,018,905 Size: 29,585 Total Exon Count: 32 Strand: -
Coding Region
   Position: hg19 chr8:144,990,345-145,018,831 Size: 28,487 Coding Exon Count: 32 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:144,989,321-145,018,905)mRNA (may differ from genome)Protein (4515 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCETreefamUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: PLEC
Diseases sorted by gene-association score: epidermolysis bullosa simplex, ogna type* (1680), muscular dystrophy, limb-girdle, type 2q* (1667), epidermolysis bullosa simplex with muscular dystrophy* (1413), epidermolysis bullosa simplex with pyloric atresia* (1270), epidermolysis bullosa simplex with nail dystrophy* (969), epidermolysa bullosa simplex with muscular dystrophy* (400), epidermolysis bullosa, junctional, with pyloric stenosis* (240), epidermolysis bullosa with pyloric atresia* (119), plec-related epidermolysis bullosa with pyloric atresia* (100), epidermolysis bullosa simplex (49), epidermolysis bullosa (42), muscular dystrophy (16), epithelial basement membrane dystrophy (12), alexander disease (12), bullous pemphigoid (9), vesiculobullous skin disease (9), autoimmune disease of skin and connective tissue (8), epithelial and subepithelial dystrophy (7), epidermolysis bullosa, junctional, non-herlitz type (6), herpes gestationis (4), white sponge nevus 1 (4), ichthyosis bullosa of siemens (4), congenital myasthenic syndrome (2), left ventricular noncompaction (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 82.66 RPKM in Nerve - Tibial
Total median expression: 1620.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.6074-0.305 Picture PostScript Text
3' UTR -451.601024-0.441 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF00681 - Plectin repeat

SCOP Domains:
47576 - Calponin-homology domain, CH-domain
46966 - Spectrin repeat
75399 - Plakin repeat

ModBase Predicted Comparative 3D Structure on Q15149-7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  BC013206 - Homo sapiens plectin 1, intermediate filament binding protein 500kDa, mRNA (cDNA clone IMAGE:4155706).
BC007597 - Homo sapiens, Similar to plectin 1, intermediate filament binding protein, 500kD, clone IMAGE:3346810, mRNA, partial cds.
AY480051 - Homo sapiens plectin 11 mRNA, complete cds.
AY480050 - Homo sapiens plectin 10 mRNA, complete cds.
AY480049 - Homo sapiens plectin 8 mRNA, complete cds.
AY480048 - Homo sapiens plectin 7 mRNA, complete cds.
AY480047 - Homo sapiens plectin 6 mRNA, complete cds.
AY480046 - Homo sapiens plectin 3 mRNA, complete cds.
AY480045 - Homo sapiens plectin 2 mRNA, complete cds.
AY480044 - Homo sapiens plectin 1 mRNA, complete cds.
U53204 - Human plectin (PLEC1) mRNA, complete cds.
JD392818 - Sequence 373842 from Patent EP1572962.
JD256262 - Sequence 237286 from Patent EP1572962.
JD104137 - Sequence 85161 from Patent EP1572962.
JD191173 - Sequence 172197 from Patent EP1572962.
JD122772 - Sequence 103796 from Patent EP1572962.
JD222073 - Sequence 203097 from Patent EP1572962.
JD191439 - Sequence 172463 from Patent EP1572962.
JD276756 - Sequence 257780 from Patent EP1572962.
JD394856 - Sequence 375880 from Patent EP1572962.
JD554130 - Sequence 535154 from Patent EP1572962.
JD498651 - Sequence 479675 from Patent EP1572962.
JD107142 - Sequence 88166 from Patent EP1572962.
JD056791 - Sequence 37815 from Patent EP1572962.
JD124887 - Sequence 105911 from Patent EP1572962.
JD394089 - Sequence 375113 from Patent EP1572962.
JD129220 - Sequence 110244 from Patent EP1572962.
JD260995 - Sequence 242019 from Patent EP1572962.
Z36817 - H.sapiens (xs165) mRNA, 400bp.
DQ570422 - Homo sapiens piRNA piR-30534, complete sequence.
DQ591092 - Homo sapiens piRNA piR-58204, complete sequence.
DQ581291 - Homo sapiens piRNA piR-49403, complete sequence.
JD370503 - Sequence 351527 from Patent EP1572962.
X97053 - H.sapiens mRNA for plectin.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15149 (Reactome details) participates in the following event(s):

R-HSA-201637 Caspase-mediated cleavage of plectin-1
R-HSA-432909 Interaction of Plectin with Integrin beta 4
R-HSA-432952 BP180 interacts intracellularly with plectin and integrin beta4
R-HSA-2213192 Hemidesmosome formation
R-HSA-446089 BP180 interacts extracellularly with Laminin 332
R-HSA-432956 BP230 is recruited to the hemidesmosome
R-HSA-446083 CD151 interacts with BP180 and the integrin alpha 6 subunit
R-HSA-446077 BP230 interacts with keretin K5/K14
R-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins
R-HSA-446107 Type I hemidesmosome assembly
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-446728 Cell junction organization
R-HSA-1474290 Collagen formation
R-HSA-75153 Apoptotic execution phase
R-HSA-1500931 Cell-Cell communication
R-HSA-1474244 Extracellular matrix organization
R-HSA-109581 Apoptosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: NM_201381, NP_958783, PLEC1, Q15149-7
UCSC ID: uc003zae.1
RefSeq Accession: NM_201381
Protein: Q15149-7, splice isoform of Q15149 CCDS: CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PLEC:
cms (Congenital Myasthenic Syndromes)
eb-pa (Epidermolysis Bullosa with Pyloric Atresia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_201381.1
exon count: 32CDS single in 3' UTR: no RNA size: 14646
ORF size: 13548CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 27164.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.