ID:PLEC_HUMAN DESCRIPTION: RecName: Full=Plectin; Short=PCN; Short=PLTN; AltName: Full=Hemidesmosomal protein 1; Short=HD1; AltName: Full=Plectin-1; 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. SUBUNIT: Homodimer or homotetramer. Interacts (via actin-binding domain) with Nesprin-3. 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). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome. TISSUE SPECIFICITY: Widely expressed with highest levels in muscle, heart, placenta and spinal cord. 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. PTM: Phosphorylated by CDK1; regulates dissociation from intermediate filaments during mitosis (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in PLEC are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:612138]. EBS-PA is an 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. DISEASE: Defects in PLEC are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM:226670]. MD-EBS is an autosomal recessive disorder characterized by epidermal blister formation at the level of the hemidesmosome and associated with late-onset muscular dystrophy. DISEASE: Defects in PLEC are the cause of epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950]; also called epidermolysis bullosa simplex 1. O-EBS is 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. DISEASE: Defects in PLEC are the cause of limb-girdle muscular dystrophy type 2Q (LGMD2Q) [MIM:613723]. An autosomal recessive degenerative myopathy characterized by early childhood onset of proximal muscle weakness. Note=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. 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. WEB RESOURCE: Name=Wikipedia; Note=Plectin entry; URL="http://en.wikipedia.org/wiki/Plectin";
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.
ModBase Predicted Comparative 3D Structure on Q15149
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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.
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
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
