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PLEC

GENERAL INFORMATION

Gene name

 PLEC

Gene description

 Plectin

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 14
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Membranous and cytoplasmic expression in almost all cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA025967 , HPA029906 , CAB003847
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 5339

UniProt

 Q15149 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15149

Antibodypedia

 PLEC antibodies

PROTEIN BROWSER
«
PLEC-001
PLEC-002
PLEC-003
PLEC-004
PLEC-005
PLEC-006
PLEC-007
PLEC-008
PLEC-009
PLEC-010
PLEC-013
PLEC-014
PLEC-015
PLEC-016
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PLEC-001
ENSP00000323856
ENST00000322810
Q15149 [Direct mapping]
Plectin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005903 [brush border]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0043292 [contractile fiber]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4684 aa
531.8 kDa 		No 0
PLEC-002
ENSP00000388180
ENST00000436759
Q15149 [Direct mapping]
Plectin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4574 aa
518.5 kDa 		No 0
PLEC-003
ENSP00000434583
ENST00000527096
Q15149 [Direct mapping]
Plectin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4570 aa
518 kDa 		No 0
PLEC-004
ENSP00000344848
ENST00000345136
Q15149 [Direct mapping]
Plectin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4547 aa
516.2 kDa 		No 0
PLEC-005
ENSP00000346602
ENST00000354589
Q15149 [Direct mapping]
Plectin
Show all
   Phobius predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4547 aa
516.3 kDa 		No 0
PLEC-006
ENSP00000350277
ENST00000357649
Q15149 [Direct mapping]
Plectin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4551 aa
516.5 kDa 		No 0
PLEC-007
ENSP00000381756
ENST00000398774
Q15149 [Direct mapping]
Plectin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4515 aa
512.6 kDa 		No 0
PLEC-008
ENSP00000347044
ENST00000354958
Q15149 [Direct mapping]
Plectin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4525 aa
513.7 kDa 		No 0
PLEC-009
ENSP00000348702
ENST00000356346
Q15149 [Direct mapping]
Plectin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0008307 [structural constituent of muscle]
GO:0012501 [programmed cell death]
GO:0016528 [sarcoplasm]
GO:0030056 [hemidesmosome]
GO:0030198 [extracellular matrix organization]
GO:0030506 [ankyrin binding]
GO:0031581 [hemidesmosome assembly]
GO:0034329 [cell junction assembly]
GO:0042383 [sarcolemma]
GO:0043034 [costamere]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
GO:0070062 [extracellular exosome]
Show all
 4533 aa
514.8 kDa 		No 0
PLEC-010
ENSP00000437303
ENST00000528025
E9PMV1 [Direct mapping]
Plectin
Show all
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005856 [cytoskeleton]
Show all
 703 aa
80.8 kDa 		No 0
PLEC-013
ENSP00000436702
ENST00000528131
E9PIA2 [Direct mapping]
Plectin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005856 [cytoskeleton]
Show all
 174 aa
19.7 kDa 		No 0
PLEC-014
ENSP00000434490
ENST00000527816
E9PQ28 [Direct mapping]
Plectin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005856 [cytoskeleton]
GO:0008092 [cytoskeletal protein binding]
Show all
 83 aa
9.7 kDa 		No 0
PLEC-015
ENSP00000433557
ENST00000526416
E9PKG0 [Direct mapping]
Plectin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005856 [cytoskeleton]
Show all
 190 aa
22.5 kDa 		No 0
PLEC-016
ENSP00000433982
ENST00000527303
H0YDN1 [Direct mapping]
Plectin
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005856 [cytoskeleton]
GO:0008092 [cytoskeletal protein binding]
Show all
 200 aa
23.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.