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; 2 zebrafish

Gene Tree: Plec

Human homologs

Human Homolog		PLEC, plectin
NCBI Gene ID		5339
neXtProt AC		NX_Q15149
Human Synonyms		EBS1, EBSO, HD1, LGMD2Q, PCN, PLEC1, PLEC1b, PLTN
Human Chr (Location)		8q24; chr8:144989321-145050913 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human PLEC

Alleles and phenotypes

All alleles(28) : Targeted(10) Gene trapped(18)
 

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 Using Mouse Plec (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (25 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 (7)   
Theiler Stages: 22, 24, 26, 28

Assay Type	Results
Immunohistochemistry	2
RNA in situ	11

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

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	1SH5, 1SH6
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 Knockout Project Status	Plec

Sequences

Length	Strain/Species
genomic	OTTMUSG00000035240	VEGA Gene Model | MGI Sequence Detail	61600	C57BL/6J
transcript	OTTMUST00000089827	VEGA | MGI Sequence Detail	15439	Not Applicable
polypeptide	OTTMUSP00000049128	VEGA | MGI Sequence Detail	4686	Not Applicable

All sequences(179) RefSeq(31) UniProt(25)

Polymorphisms

PCR(1) : SNPs(95 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191641 Oommen S, et al., Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function. PLoS One. 2012;7(9):e43857
All references(59)

Other accession IDs

MGI:2145924, MGI:2146153