Human Gene PLEC (ENST00000354589.7) from GENCODE V44
Description: Homo sapiens plectin (PLEC), transcript variant 8, mRNA. (from RefSeq NM_201382) RefSeq Summary (NM_201382): 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 These names were superseded by plectin.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]. Gencode Transcript: ENST00000354589.7 Gencode Gene: ENSG00000178209.17 Transcript (Including UTRs) Position: hg38 chr8:143,915,153-143,943,958 Size: 28,806 Total Exon Count: 32 Strand: - Coding Region Position: hg38 chr8:143,916,177-143,943,890 Size: 27,714 Coding Exon Count: 32
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. Z36817 - H.sapiens (xs165) mRNA, 400bp. 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. 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. AF330792 - Homo sapiens plectin isoform 1b (PLEC1) mRNA, partial cds, alternatively spliced.
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
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