InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PLEC

Summary

InnateDB Protein

IDBP-39388.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PLEC

Protein Name

plectin

Synonyms

EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1; PLEC1b; PLTN;

Species

Homo sapiens

Ensembl Protein

ENSP00000347044

InnateDB Gene

IDBG-39382 (PLEC)

Protein Structure

UniProt Annotation

Function

Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofibers integrity. {ECO:0000269PubMed:12482924, ECO:0000269PubMed:21109228}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:12482924}. Cell junction, hemidesmosome {ECO:0000269PubMed:12482924}.

Disease Associations

Epidermolysis bullosa simplex with pyloric atresia (EBS- PA) [MIM:612138]: Autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD- EBS. {ECO:0000269PubMed:14675180, ECO:0000269PubMed:20665883}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa simplex, with muscular dystrophy (MD-EBS) [MIM:226670]: A form of epidermolysis bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset muscular dystrophy. {ECO:0000269PubMed:11159198, ECO:0000269PubMed:8894687}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa simplex, Ogna type (O-EBS) [MIM:131950]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. {ECO:0000269PubMed:11851880}. Note=The disease is caused by mutations affecting the gene represented in this entry.Limb-girdle muscular dystrophy 2Q (LGMD2Q) [MIM:613723]: A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269PubMed:21109228}. Note=The disease is caused by mutations affecting the gene represented in this entry. A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.

Tissue Specificity

Widely expressed with highest levels in muscle, heart, placenta and spinal cord.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 72 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	72 [view]
Protein-Protein	72 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0008307	structural constituent of muscle
GO:0030506	ankyrin binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006915	apoptotic process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis
GO:0030198	extracellular matrix organization
GO:0031581	hemidesmosome assembly
GO:0034329	cell junction assembly
GO:0045087	innate immune response (InnateDB)
GO:0046417	chorismate metabolic process

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0005925	focal adhesion
GO:0016528	sarcoplasm
GO:0030056	hemidesmosome
GO:0042383	sarcolemma
GO:0043034	costamere
GO:0045111	intermediate filament cytoskeleton
GO:0070062	extracellular vesicular exosome