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Plec
Gene Detail
Symbol

Name
ID
Plec
plectin
MGI:1277961
Synonyms
Plec1
Feature Type
protein coding gene
Genetic Map
Chromosome 15
35.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr15:76170975-76232574 bp, - strand
From VEGA annotation of GRCm38

  61600 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:384  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PLEC
Gene Tree: Plec

Human
homologs
PLEC, plectin
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5339
neXtProt AC: NX_Q15149

Human Synonyms: EBS1, EBSO, HD1, LGMD2Q, PCN, PLEC1, PLEC1b, PLTN

Human Chr (Location): 8q24; chr8:143915147-143976792 (-)  GRCh38.p2

Disease Associations: (5) Diseases Associated with Human PLEC

Mutations,
alleles, and
phenotypes
All mutations/alleles(29) : Gene trapped(18) Radiation induced(1) Targeted(10)
Genomic Mutations involving Plec (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Targeted mutations of this gene result in neonatal death, skin blistering, impaired myofibril integrity, reduced hemidesmosome number, and disintegration of intercalated disks in the heart. Mice lacking isoform 1 are viable with no skin blistering but leukocyte recruitment to wounds is impaired.
 
Human Diseases Modeled in Mice Using Plec (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(5)
Interactions
Plec interacts with 268 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process hemidesmosome assembly, response to nutrient
Component apical plasma membrane, basal plasma membrane, ...
Function actin binding, ankyrin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (13)    Tissues (8)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 11
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase plec ; ZFIN pleca    NEW 
Molecular
reagents
All nucleic(14) cDNA(12) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000035240 (Evidence)
Ensembl Gene Model ENSMUSG00000022565 (Evidence)
Entrez Gene 18810 (Evidence)
PDB 4Q57, 1SH6, 1SH5
Consensus CDS Project CCDS37113.1, CCDS37114.1, CCDS37115.1, CCDS37116.1, CCDS37117.2, CCDS49644.1, CCDS49645.1, CCDS49646.1, CCDS49647.1, CCDS49648.1, CCDS49649.1
International Mouse Phenotyping Consortium Status Plec
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035240 VEGA Gene Model | MGI Sequence Detail 61600 C57BL/6J ±  kb
transcript OTTMUST00000089827 VEGA | MGI Sequence Detail 15439 Not Applicable 
polypeptide OTTMUSP00000049128 VEGA | MGI Sequence Detail 4686 Not Applicable 

For the selected sequences
All sequences(172) RefSeq(31) UniProt(17)
Polymorphisms
PCR(1) : SNPs within 2kb(97 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR001101 Plectin repeat
InterPro IPR005326 Plectin/S10, N-terminal
InterPro IPR018159 Spectrin/alpha-actinin
Protein Ontology PR:000012850 plectin-1
References
(Earliest) J:59000 Andra K, et al., Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes Dev. 1997 Dec 1;11(23):3143-56
(Latest) J:209429 Winter L, et al., Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle. J Clin Invest. 2014 Mar 3;124(3):1144-57
All references(62)
Disease annotation references (2)
Other
accession IDs
MGI:2145924, MGI:2146153

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory