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FLASH GENE

Symbol

PLEC

contributors: mct - updated : 12-11-2014

HGNC name	plectin
HGNC id	9069

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	61.59 kb     32 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	exons 2–32 are constant exons, but has eight alternative first exons that are spliced into a common exon 2 (PMID: 21109228)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000445 32 splicing 14798 NP_000436 - 4574 - 2007 17389230 also called variant 1/isoform 1c NM_201382 32 splicing 14720 NP_958784 - 4547 substantially expressed in muscle tissue 2008 18541706 also called variant 8/isoform 1b colocalizes with mitochondria, which plays a role for organelle shaping and forms a network between mitochondria and the cytoskeleton inserted into the outer mitochondrial membrane with the exon 1b-encoded N-terminal sequence serving as a mitochondrial targeting and anchoring signal NM_201380 32 splicing 15249 NP_958782 - 4684 substantially expressed in muscle tissue 2007 17389230 also called variant 6/isoform 1 NM_201381 32 splicing 14646 NP_958783 - 4515 substantially expressed in muscle tissue 2007 17389230 also called variant 7/isoform d associated with Z-disks NM_201379 32 splicing 14751 NP_958781 - 4525 - 2007 17389230 also called variant 3/isoform e NM_201378 32 splicing 14683 NP_958780 - 4533 concentrated in vinculin-positive structure at actin stress fiber ends 2010 21109228 also called variant 2/isoform 1f plays a key role in skeletal muscle function NM_201383 32 - 14689 NP_958785 - 4551 - 2007 17389230 also called variant 10/isoform g NM_201384 32 splicing 14797 NP_958786 - 4547 - 2010 21109228 also called variant 11/isoform a associates with keratin intermediate filaments in basal keratinocytes, which supports the association of plectin deficiencies with skin disorders disruption of the plectin 1f can cause the LGMD2 phenotype without any dermatologic component sarcolemma-associated isoform localized at costameres

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver         Nervous brain           spinal cord         Skin/Tegument skin       highly Homo sapiens Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Muscular striatum skeletal   lowly Homo sapiens Nervous peripherous       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a globular N terminus, with a conserved region, the plakin domain, which is formed by an array of spectrin repeats (SR) and a Src-homology 3 (SH3), and harbors binding sites for junctional proteins
	a central alpha helical coiled coil (rod) domain
	a C-terminal tail consisiting of characteristic repeat sequences, and a linker region in the C-terminal end of plectin required for the association of the protein with intermediate filaments

mono polymer

homomer , dimer , tetramer

HOMOLOGY

Homologene

FAMILY

plakin or cytolinker family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane,junction,desmosome
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,intermed filament
text	hemidesmosomes at Z-lines of striated muscles, dense plaques of smooth muscles

basic FUNCTION	involved in the structural organization of the blood-brain barrier and the leptomeninges
	versatile intermediate filament (IF)-bound cytolinker protein with a variety of differentially spliced isoforms accounting for its multiple functions
	plays an important role in CXCR4 signaling and trafficking and HIV-1 infection
	important role for mechanical properties, stress propagation, and prestress of living cells, thereby influencing their biological functions
	versatile cytoplasmic cross-linking protein that connects intermediate filaments to microfilaments, microtubules, and membrane adhesion sites
	acts as a cytolinker for the three major components of the cyotoskeleton, namely actin microfilaments, microtubules and intermediate filaments

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

nervous system

text	tissue structural organization

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	with integrin beta 4 in hemidesmosomes and with desmoplakin
	BRCA2 interacts with plectin (interaction playing an important role in the regulation of centrosome localization and displacement of the centrosome may result in genomic instability and cancer development)
	interact with CXCR4
	interaction between the FUS N-terminal and the cytolinker plectin (PLEC is important for normal FUS localization and function)
	SYNE3 is a nuclear envelope protein that connects the nucleus to intermediate filaments by interacting with PLEC
	PLEC is a molecular partner of SH3GLB2 SH3 domain

cell & other

intermediate filament binding

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBS1 , EBSMD , LGMD2Q

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS