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Details on Person UniProt:Q15149 PLEC
| Class:Id | ReferenceGeneProduct:69847 |
|---|---|
| _chainChangeLog | chain:1-4684 added on Fri February 6 2015 |
| _displayName | UniProt:Q15149 PLEC |
| _timestamp | 2024-11-03 19:57:59 |
| chain | chain:1-4684 |
| checksum | 04772E4F70A304C8 |
| comment | 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.SUBUNIT Homodimer or homotetramer. Interacts (via actin-binding domain) with SYNE3. Interacts (via calponin-homology (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).SUBUNIT Interacts with KRT14, heterodimers consisting of KRT8 and KRT18, heterodimers consisting of KRT5 and KRT14, heterodimers consisting of KRT14 and KRT15, and heterodimers consisting of KRT1 and KRT10 (PubMed:24940650). Interacts with DES and VIM (PubMed:24940650).INTERACTION Localized to the cortex of myotube podosomes.ALTERNATIVE PRODUCTS 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the plakin or cytolinker family.ONLINE INFORMATION Plectin entry |
| description | recommendedName: Plectin shortName: PCN shortName: PLTN alternativeName: Hemidesmosomal protein 1 shortName: HD1 alternativeName: Plectin-1 |
| geneName | PLEC PLEC1 |
| identifier | Q15149 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Actin-binding Alternative splicing Cell junction Cell projection Coiled coil Cytoplasm Cytoskeleton Direct protein sequencing Disease variant Epidermolysis bullosa Limb-girdle muscular dystrophy Methylation Phosphoprotein Proteomics identification Reference proteome Repeat SH3 domain |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | PLEC |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8960164] ENSEMBL:ENSG00000178209 PLEC [Homo sapiens] |
| secondaryIdentifier | PLEC_HUMAN Q15148 Q16640 Q6S376 Q6S377 Q6S378 Q6S379 Q6S380 Q6S381 Q6S382 Q6S383 |
| sequenceLength | 4684 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:152218] UniProt:Q15149-2 PLEC [Homo sapiens] [ReferenceIsoform:152219] UniProt:Q15149-3 PLEC [Homo sapiens] [ReferenceIsoform:243204] UniProt:Q15149-4 PLEC [Homo sapiens] [ReferenceIsoform:405828] UniProt:Q15149-1 PLEC [Homo sapiens] [ReferenceIsoform:423420] UniProt:Q15149-5 PLEC [Homo sapiens] [ReferenceIsoform:423421] UniProt:Q15149-6 PLEC [Homo sapiens] [ReferenceIsoform:423422] UniProt:Q15149-7 PLEC [Homo sapiens] [ReferenceIsoform:423423] UniProt:Q15149-8 PLEC [Homo sapiens] [ReferenceIsoform:423424] UniProt:Q15149-9 PLEC [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:201575] PLEC [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:350618] PLEC(2396-4684) [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:350638] PLEC(1-2395) [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:8960657] PLEC [extracellular region] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q15149 PLEC (69847)
