PLEC

GENERAL INFORMATION

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Gene name

PLEC

Gene description

Plectin

Protein class

Cancer-related genes
Cytoskeleton related proteins
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

14
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Membranous and cytoplasmic expression in almost all cell types.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA025967 , HPA029906 , CAB003847
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

PLEC (HGNC Symbol)

Synonyms

EBS1, PCN, PLEC1, PLTN

Description

Plectin (HGNC Symbol)

Entrez gene summary

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]

Chromosome

8

Cytoband

q24.3

Chromosome location (bp)

143915147 - 143976734

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000178209 (version 78.38)

Entrez gene

5339

UniProt

Q15149 (UniProt - Evidence at protein level)

neXtProt

NX_Q15149

Antibodypedia

PLEC antibodies


PROTEIN BROWSER

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 « 
 
ENST00000322810
 
ENST00000345136
 
ENST00000354589
 
ENST00000354958
 
ENST00000356346
 
ENST00000357649
 
ENST00000398774
 
ENST00000436759
 
ENST00000526416
 
ENST00000527096
 
ENST00000527303
 
ENST00000527816
 
ENST00000528025
 
ENST00000528131
 
 » 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PLEC-001 ENSP00000323856
ENST00000322810
Q15149
Show all »
Show » Show » 4684 531.8 No 0
PLEC-002 ENSP00000388180
ENST00000436759
Q15149
Show all »
Show » Show » 4574 518.5 No 0
PLEC-003 ENSP00000434583
ENST00000527096
Q15149
Show all »
Show » Show » 4570 518 No 0
PLEC-004 ENSP00000344848
ENST00000345136
Q15149
Show all »
Show » Show » 4547 516.2 No 0
PLEC-005 ENSP00000346602
ENST00000354589
Q15149
Show all »
Show » Show » 4547 516.3 No 0
PLEC-006 ENSP00000350277
ENST00000357649
Q15149
Show all »
Show » Show » 4551 516.5 No 0
PLEC-007 ENSP00000381756
ENST00000398774
Q15149
Show all »
Show » Show » 4515 512.6 No 0
PLEC-008 ENSP00000347044
ENST00000354958
Q15149
Show all »
Show » Show » 4525 513.7 No 0
PLEC-009 ENSP00000348702
ENST00000356346
Q15149
Show all »
Show » Show » 4533 514.8 No 0
PLEC-010 ENSP00000437303
ENST00000528025
E9PMV1
Show all »
Show » Show » 703 80.8 No 0
PLEC-013 ENSP00000436702
ENST00000528131
E9PIA2
Show all »
Show » Show » 174 19.7 No 0
PLEC-014 ENSP00000434490
ENST00000527816
E9PQ28
Show all »
Show » Show » 83 9.7 No 0
PLEC-015 ENSP00000433557
ENST00000526416
E9PKG0
Show all »
Show » Show » 190 22.5 No 0
PLEC-016 ENSP00000433982
ENST00000527303
Show » 200 23.8 No 0