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Aliases for PLEC Gene

Aliases for PLEC Gene

  • Plectin 2 3 5
  • Plectin 1, Intermediate Filament Binding Protein 500kDa 2 3
  • Hemidesmosomal Protein 1 3 4
  • PLEC1 3 4
  • PLTN 3 4
  • HD1 3 4
  • PCN 3 4
  • Plectin 1, Intermediate Filament Binding Protein, 500kD 2
  • Epidermolysis Bullosa Simplex 1 (Ogna) 2
  • Plectin-1 4
  • LGMD2Q 3
  • PLEC1b 3
  • EBSMD 3
  • EBSND 3
  • EBSOG 3
  • EBSPA 3
  • EBSO 3
  • EBS1 3

External Ids for PLEC Gene

Previous HGNC Symbols for PLEC Gene

  • EBS1
  • PLEC1

Previous GeneCards Identifiers for PLEC Gene

  • GC08M144989
  • GC08M140243

Summaries for PLEC Gene

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 These names were superseded by plectin.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. Among its related pathways are Cell junction organization and Apoptotic cleavage of cellular proteins. GO annotations related to this gene include poly(A) RNA binding and structural constituent of muscle. An important paralog of this gene is DST.

UniProtKB/Swiss-Prot for PLEC Gene

  • 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 myofiber integrity.

Gene Wiki entry for PLEC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEC Gene

Genomics for PLEC Gene

Regulatory Elements for PLEC Gene

Enhancers for PLEC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PLEC on UCSC Golden Path with GeneCards custom track

Promoters for PLEC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PLEC on UCSC Golden Path with GeneCards custom track

Genomic Location for PLEC Gene

Chromosome:
8
Start:
143,915,147 bp from pter
End:
143,976,792 bp from pter
Size:
61,646 bases
Orientation:
Minus strand

Genomic View for PLEC Gene

Genes around PLEC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEC Gene

Proteins for PLEC Gene

  • Protein details for PLEC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15149-PLEC_HUMAN
    Recommended name:
    Plectin
    Protein Accession:
    Q15149
    Secondary Accessions:
    • Q15148
    • Q16640
    • Q6S376
    • Q6S377
    • Q6S378
    • Q6S379
    • Q6S380
    • Q6S381
    • Q6S382
    • Q6S383

    Protein attributes for PLEC Gene

    Size:
    4684 amino acids
    Molecular mass:
    531791 Da
    Quaternary structure:
    • Homodimer or homotetramer. Interacts (via actin-binding domain) with SYNE3. Interacts (via CH 1 domain) with VIM (via rod region) (By similarity). Interacts (via N-terminus) with DST isoform 2 (via N-terminus) (PubMed:19932097). Interacts with FER. Interacts with TOR1A (PubMed:18827015). Interacts with ANK3 (PubMed:21223964). Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity). Interacts with COL17A1 (PubMed:12482924).

    Three dimensional structures from OCA and Proteopedia for PLEC Gene

    Alternative splice isoforms for PLEC Gene

neXtProt entry for PLEC Gene

Proteomics data for PLEC Gene at MOPED

Post-translational modifications for PLEC Gene

  • Phosphorylated by CDK1; regulates dissociation from intermediate filaments during mitosis.
  • Ubiquitination at Lys 1210
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PLEC (Plectin-1)

No data available for DME Specific Peptides for PLEC Gene

Domains & Families for PLEC Gene

Gene Families for PLEC Gene

Graphical View of Domain Structure for InterPro Entry

Q15149

UniProtKB/Swiss-Prot:

PLEC_HUMAN :
  • 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.
  • Belongs to the plakin or cytolinker family.
  • Contains 33 plectin repeats.
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.
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
Family:
  • Belongs to the plakin or cytolinker family.
Similarity:
  • Contains 33 plectin repeats.
  • Contains 4 spectrin repeats.
genes like me logo Genes that share domains with PLEC: view

Function for PLEC Gene

Molecular function for PLEC Gene

UniProtKB/Swiss-Prot 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 myofiber integrity.

Gene Ontology (GO) - Molecular Function for PLEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 12482924
genes like me logo Genes that share ontologies with PLEC: view
genes like me logo Genes that share phenotypes with PLEC: view

Human Phenotype Ontology for PLEC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLEC Gene

MGI Knock Outs for PLEC:

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PLEC Gene

Localization for PLEC Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEC Gene

Cytoplasm, cytoskeleton. Cell junction, hemidesmosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEC Gene COMPARTMENTS Subcellular localization image for PLEC gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
plasma membrane 5
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PLEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane NAS 8633055
GO:0005903 brush border IEA --
GO:0030056 hemidesmosome IDA 12482924
GO:0043292 contractile fiber IEA --
genes like me logo Genes that share ontologies with PLEC: view

Pathways & Interactions for PLEC Gene

genes like me logo Genes that share pathways with PLEC: view

SIGNOR curated interactions for PLEC Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PLEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS --
genes like me logo Genes that share ontologies with PLEC: view

Drugs & Compounds for PLEC Gene

No Compound Related Data Available

Transcripts for PLEC Gene

Unigene Clusters for PLEC Gene

Plectin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLEC Gene

No ASD Table

Relevant External Links for PLEC Gene

GeneLoc Exon Structure for
PLEC
ECgene alternative splicing isoforms for
PLEC

Expression for PLEC Gene

mRNA expression in normal human tissues for PLEC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEC Gene

This gene is overexpressed in Bone marrow stromal cell (24.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLEC Gene



SOURCE GeneReport for Unigene cluster for PLEC Gene Hs.434248

mRNA Expression by UniProt/SwissProt for PLEC Gene

Q15149-PLEC_HUMAN
Tissue specificity: Widely expressed with highest levels in muscle, heart, placenta and spinal cord.
genes like me logo Genes that share expression patterns with PLEC: view

Protein tissue co-expression partners for PLEC Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for PLEC Gene

Orthologs for PLEC Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC786966 35
  • 89.18 (n)
  • 92.91 (a)
PLEC 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEC 35
  • 89.44 (n)
  • 92.76 (a)
PLEC 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plec 35
  • 87 (n)
  • 93.87 (a)
Plec 16
Plec 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLEC 35
  • 98.91 (n)
  • 99.22 (a)
PLEC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plec 35
  • 86.81 (n)
  • 93.8 (a)
oppossum
(Monodelphis domestica)
Mammalia PLEC 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia PLEC 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plec 35
  • 67.97 (n)
  • 70.58 (a)
Str.10171 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398587 35
zebrafish
(Danio rerio)
Actinopterygii pleca 35
  • 62.29 (n)
  • 64.47 (a)
pleca 36
  • 61 (a)
OneToMany
plecb 36
  • 64 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9945 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for PLEC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLEC Gene

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

Paralogs for PLEC Gene

Paralogs for PLEC Gene

Pseudogenes.org Pseudogenes for PLEC Gene

genes like me logo Genes that share paralogs with PLEC: view

Variants for PLEC Gene

Sequence variations from dbSNP and Humsavar for PLEC Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_015817 Epidermolysis bullosa simplex, Ogna type (O-EBS)
rs11136336 - 143,933,019(+) CCTGG(A/G)CCACC reference, missense
rs34893635 - 143,923,892(-) TCGAG(C/G/T)GGCTG intron-variant, reference, missense
rs7002002 - 143,923,759(+) GCACC(A/G)CGAAG intron-variant, reference, missense
rs7833924 - 143,921,861(+) AGCTG(A/G)CACCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PLEC Gene

Variant ID Type Subtype PubMed ID
dgv7935n71 CNV Loss 21882294
dgv7939n71 CNV Loss 21882294
dgv7940n71 CNV Loss 21882294
dgv7943n71 CNV Loss 21882294
nsv891766 CNV Loss 21882294
dgv906n27 CNV Loss 19166990
nsv470249 CNV Loss 18288195
dgv7947n71 CNV Loss 21882294
dgv7948n71 CNV Loss 21882294
dgv7949n71 CNV Loss 21882294
dgv7950n71 CNV Loss 21882294
dgv7951n71 CNV Gain+Loss 21882294
nsv891787 CNV Gain+Loss 21882294
nsv515809 CNV Gain+Loss 19592680
dgv7952n71 CNV Loss 21882294
dgv7953n71 CNV Loss 21882294
nsv824793 CNV Gain 20364138
nsv824794 CNV Gain 20364138
nsv824795 CNV Gain 20364138
nsv891798 CNV Loss 21882294
nsv470250 CNV Gain 18288195
nsv891801 CNV Loss 21882294
nsv824796 CNV Loss 20364138
esv2738044 CNV Deletion 23290073
esv2738045 CNV Deletion 23290073
esv2658236 CNV Deletion 23128226
nsv818664 CNV Loss 17921354
nsv824798 CNV Loss 20364138
nsv819867 CNV Loss 19587683
dgv1206n67 CNV Gain 20364138
nsv6445 CNV Insertion 18451855
nsv891804 CNV Loss 21882294

Variation tolerance for PLEC Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 27.47; 99.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEC Gene

Human Gene Mutation Database (HGMD)
PLEC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEC Gene

Disorders for PLEC Gene

MalaCards: The human disease database

(18) MalaCards diseases for PLEC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PLEC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLEC_HUMAN
  • Epidermolysis bullosa simplex with nail dystrophy (EBSND) [MIM:616487]: A form of epidermolysis bullosa, a dermatologic disorder characterized by skin blistering. EBSND patients also manifest nail dystrophy. {ECO:0000269 PubMed:25712130}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:14675180, ECO:0000269 PubMed:20665883}. 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. {ECO:0000269 PubMed:11851880}. 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. {ECO:0000269 PubMed:11159198, ECO:0000269 PubMed:21263134, ECO:0000269 PubMed:8894687}. 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. {ECO:0000269 PubMed:21109228}. 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.

Relevant External Links for PLEC

Genetic Association Database (GAD)
PLEC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEC
genes like me logo Genes that share disorders with PLEC: view

No data available for Genatlas for PLEC Gene

Publications for PLEC Gene

  1. Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24). (PMID: 8633055) Liu C.-G. … Wiche G. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 67
  2. PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. (PMID: 20016501) Bolling M.C. … Jonkman M.F. (J. Invest. Dermatol. 2010) 3 23
  3. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. (PMID: 20052759) Natsuga K. … Shimizu H. (Hum. Mutat. 2010) 3 23
  4. Plectin regulates the signaling and trafficking of the HIV-1 co-receptor CXCR4 and plays a role in HIV-1 infection. (PMID: 18155192) Ding Y. … Fan G.H. (Exp. Cell Res. 2008) 3 23
  5. Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. (PMID: 17389230) Rezniczek G.A. … Wiche G. (J. Cell Biol. 2007) 3 23

Products for PLEC Gene

Sources for PLEC Gene

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