plectin

Summary
Gene Symbol
  • PLEC
Organism
Homo sapiens (human)
NCBI Gene
5339
PubChem
5339
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Actin-binding
  • Alternative splicing
  • Cell junction
  • Coiled coil
  • Cytoskeleton
  • Direct protein sequencing
  • Disease variant
  • Epidermolysis bullosa
  • Limb-girdle muscular dystrophy
  • Methylation
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • SH3 domain
Proteins
Displaying all 2 entries
UniProt Protein Name
Q15149
  • Hemidesmosomal protein 1
  • Plectin-1
A0A8I5KUE3
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Plectin
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0060736 epidermolysis bullosa simplex Ogna type
DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy
DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q
DOID:4644 epidermolysis bullosa simplex

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024