PLEC (plectin)

2010-02-01  

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
EBS1,EBSMD,EBSND,EBSO,EBSOG,EBSPA,HD1,LGMD2Q,LGMDR17,PCN,PLEC1,PLEC1b,PLTN
FUSION GENES

Other Information

Locus ID:

NCBI: 5339
MIM: 601282
HGNC: 9069
Ensembl: ENSG00000178209

Variants:

dbSNP: 5339
ClinVar: 5339
TCGA: ENSG00000178209
COSMIC: PLEC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178209ENST00000322810Q15149
ENSG00000178209ENST00000345136Q15149
ENSG00000178209ENST00000354589Q15149
ENSG00000178209ENST00000354958Q15149
ENSG00000178209ENST00000356346Q15149
ENSG00000178209ENST00000357649Q15149
ENSG00000178209ENST00000398774Q15149
ENSG00000178209ENST00000436759Q15149
ENSG00000178209ENST00000526416E9PKG0
ENSG00000178209ENST00000527096Q15149
ENSG00000178209ENST00000527303H0YDN1
ENSG00000178209ENST00000527816E9PQ28
ENSG00000178209ENST00000528025E9PMV1
ENSG00000178209ENST00000528131E9PIA2

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Type I hemidesmosome assemblyREACTOMER-HSA-446107
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptotic cleavage of cellular proteinsREACTOMER-HSA-111465
Caspase-mediated cleavage of cytoskeletal proteinsREACTOMER-HSA-264870

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193667312009Recruitment of vimentin to the cell surface by beta3 integrin and plectin mediates adhesion strength.65
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
149661162004Plectin-RACK1 (receptor for activated C kinase 1) scaffolding: a novel mechanism to regulate protein kinase C activity.43
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
175159522007Gene expression in temporal lobe epilepsy is consistent with increased release of glutamate by astrocytes.36
127912512003Structural and functional analysis of the actin binding domain of plectin suggests alternative mechanisms for binding to F-actin and integrin beta4.34
165079042006Plectin regulates the organization of glial fibrillary acidic protein in Alexander disease.32
211092282010Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.28
217432962011Quantitative tissue proteomics of esophageal squamous cell carcinoma for novel biomarker discovery.27
242186142013Unexpected gain of function for the scaffolding protein plectin due to mislocalization in pancreatic cancer.27

Citation

Dessen P

PLEC (plectin)

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/gene/51349/plec