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Gene: PLEC (plectin) Homo sapiens
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Symbol: PLEC
Name: plectin
Description: Exhibits ankyrin binding activity. Involved in hemidesmosome assembly. Localizes to several cellular components, including the focal adhesion; hemidesmosome; and sarcolemma. Predicted to colocalize with the intermediate filament. Implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EBS1; EBSMD; EBSND; EBSO; EBSOG; EBSPA; epidermolysis bullosa simplex 1 (Ogna); HD1; hemidesmosomal protein 1; LGMD2Q; LGMDR17; PCN; PLEC1; PLEC1b; plectin 1, intermediate filament binding protein 500kDa; plectin-1; PLTN
Orthologs:
Mus musculus (house mouse) : Plec (plectin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Plec (plectin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Plec (plectin)
Pan paniscus (bonobo/pygmy chimpanzee) : PLEC (plectin)
Canis lupus familiaris (dog) : PLEC (plectin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : LOC101957084 (plectin)
Sus scrofa (pig) : PLEC (plectin)
Chlorocebus sabaeus (African green monkey) : PLEC (plectin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl8143,915,147 - 143,976,734 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,915,153 - 143,976,800 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,989,321 - 145,050,913 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,061,309 - 145,121,531 (-)NCBINCBI36hg18NCBI36
Build 348145,061,308 - 145,121,531NCBI
Celera8141,303,490 - 141,364,268 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,243,473 - 140,304,261 (-)NCBIHuRef
CHM1_18145,029,540 - 145,091,031 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
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