Plec MGI Mouse Gene Detail - MGI:1277961

Symbol

Plec
Name

plectin
Synonyms

Plec1

Feature Type

protein coding gene
IDs

MGI:1277961
NCBI Gene: 18810
Alliance

gene page
Transcription Start Sites

33 TSS

Sequence Map

Chr15:76055174-76115578 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 35.48 cM
Mapping Data

4 experiments

SNPs within 2kb

1125 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1277961	protein coding gene	Chr15:76055174-76116774 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0021977	protein coding gene	Chr15:76230135-76296098 (-)
A/J	MGP_AJ_G0021935	protein coding gene	Chr15:73455817-73517419 (-)
AKR/J	MGP_AKRJ_G0021918	protein coding gene	Chr15:75446886-75511738 (-)
BALB/cJ	MGP_BALBcJ_G0021944	protein coding gene	Chr15:73475806-73540373 (-)
C3H/HeJ	MGP_C3HHeJ_G0021716	protein coding gene	Chr15:75496912-75558582 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0022384	protein coding gene	Chr15:79077465-79143224 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019913	protein coding gene	Chr15:70116526-70181177 (-)
CAST/EiJ	MGP_CASTEiJ_G0021235	protein coding gene	Chr15:76296005-76358255 (-)
CBA/J	MGP_CBAJ_G0021683	protein coding gene	Chr15:81582522-81646756 (-)
DBA/2J	MGP_DBA2J_G0021808	protein coding gene	Chr15:72994699-73056821 (-)
FVB/NJ	MGP_FVBNJ_G0021789	protein coding gene	Chr15:72041431-72103143 (-)
LP/J	MGP_LPJ_G0021879	protein coding gene	Chr15:76322380-76386888 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021813	protein coding gene	Chr15:86886616-86965057 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022404	protein coding gene	Chr15:75694246-75755689 (-)
PWK/PhJ	MGP_PWKPhJ_G0020976	protein coding gene	Chr15:73138622-73201912 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020816	protein coding gene	Chr15:75415681-75477425 (-)
WSB/EiJ	MGP_WSBEiJ_G0021287	protein coding gene	Chr15:75782919-75846204 (-)

Human Ortholog

PLEC, plectin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PLEC, plectin
Synonyms

EBS1, EBS5A, EBS5B, EBS5C, EBS5D, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN, PLEC1, PLEC1b, PLTN
Links

HGNC:9069

NCBI Gene ID: 5339

neXtProt AC: NX_Q15149

UniProt: Q15149
Chr Location

8q24.3; chr8:143915153-143976745 (-) GRCh38

MGI Vertebrate Homology

Plec stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PLEC
Gene Tree

Plec

Diseases

2 with Plec mouse models; 4 with human PLEC associations

Human Disease

Mouse Models

epidermolysis bullosa simplex Ogna type

IDs

View 4 models

epidermolysis bullosa simplex with muscular dystrophy

IDs

View 2 models

autosomal recessive limb-girdle muscular dystrophy type 2Q

IDs

epidermolysis bullosa simplex

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

3 with disease annotations

References

3 with disease annotations

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Phenotype Summary

54 phenotypes from 11 alleles in 12 genetic backgrounds
3 images
48 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

36
Chemically induced (other)

3
Endonuclease-mediated

5
Gene trapped

16
Radiation induced

2
Targeted

10
Genomic Mutations

5 involving Plec
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

174 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

115
GO References

32

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

731
Tissues

19
cDNA Data

12
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase plec

ZFIN pleca

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All Sequences

158
RefSeq

30
UniProt

20
CCDS

CCDS37113.1, CCDS37114.1, CCDS37115.1, CCDS37116.1, CCDS37117.2, CCDS49644.1, CCDS49645.1, CCDS49646.1, CCDS49647.1, CCDS49648.1, CCDS49649.1

Ensembl

ENSMUSG00000022565 (Evidence)
NCBI Gene

18810

			Length	Strain/Species	Flank
genomic	18810	NCBI Gene Model \| MGI Sequence Detail	60405	C57BL/6J	± kb
transcript	NM_001163540	RefSeq \| MGI Sequence Detail	15455	ZRU/MplStud
polypeptide	Q9QXS1	UniProt \| EBI \| MGI Sequence Detail	4691	Not Applicable

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UniProt

20 Sequences
Protein Ontology

PR:000012850 plectin-1

(term hierarchy)
PDB

1SH5, 1SH6, 4Q57
InterPro Domains

IPR001589 Actinin-type actin-binding domain, conserved site

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR041615 Desmoplakin, SH3 domain

IPR041573 Desmoplakin, spectrin-like domain

IPR043197 Plakin

IPR035915 Plakin repeat superfamily

IPR005326 Plectin/eS10, N-terminal

IPR049538 Plectin-like, spectrin-like repeat

IPR001101 Plectin repeat

IPR001452 SH3 domain

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat

IPR036388 Winged helix-like DNA-binding domain superfamily
GlyGen

Q9QXS1 6 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (4 sites)

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All nucleic 17

cDNA 13

Primer pair 2

Other 2

Microarray probesets 4

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MGI:2145924, MGI:2146153

Summaries

All 113

Developmental Gene Expression 9

Diseases 3

Gene Ontology 32

Phenotypes 48
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:350103 Kantaputra P, et al., Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain. Int J Mol Sci. 2024 Jun 8;25(12)

TSS for Plec:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr134949	Chr15:76116754-76116834 (-)	-1,216 bp
Tssr134948	Chr15:76116279-76116296 (-)	-710 bp
Tssr134947	Chr15:76116261-76116276 (-)	-691 bp
Tssr134946	Chr15:76116246-76116254 (-)	-672 bp
Tssr134945	Chr15:76113722-76113740 (-)	1,847 bp
Tssr134944	Chr15:76113692-76113711 (-)	1,876 bp
Tssr134943	Chr15:76093256-76093326 (-)	22,287 bp
Tssr134942	Chr15:76090509-76090557 (-)	25,045 bp
Tssr134941	Chr15:76090497-76090502 (-)	25,078 bp
Tssr134940	Chr15:76090435-76090443 (-)	25,139 bp
Tssr134939	Chr15:76086461-76086474 (-)	29,110 bp
Tssr134938	Chr15:76086428-76086446 (-)	29,141 bp
Tssr134937	Chr15:76084823-76084834 (-)	30,749 bp
Tssr134936	Chr15:76084777-76084821 (-)	30,779 bp
Tssr134935	Chr15:76084767-76084776 (-)	30,806 bp
Tssr134934	Chr15:76084752-76084763 (-)	30,820 bp
Tssr134933	Chr15:76084158-76084172 (-)	31,413 bp
Tssr134932	Chr15:76084062-76084094 (-)	31,500 bp
Tssr134931	Chr15:76084035-76084059 (-)	31,531 bp
Tssr134930	Chr15:76084012-76084031 (-)	31,556 bp
Tssr4634	Chr15:76083575-76083595 (-)	31,993 bp
Tssr4633	Chr15:76082625-76082636 (-)	32,947 bp
Tssr134929	Chr15:76082418-76082427 (-)	33,155 bp
Tssr134928	Chr15:76082347-76082404 (-)	33,202 bp
Tssr134927	Chr15:76080806-76080824 (-)	34,763 bp
Tssr134926	Chr15:76079912-76079917 (-)	35,663 bp
Tssr134925	Chr15:76079891-76079906 (-)	35,679 bp
Tssr134924	Chr15:76079866-76079877 (-)	35,706 bp
Tssr134923	Chr15:76074499-76074515 (-)	41,071 bp
Tssr134922	Chr15:76074373-76074382 (-)	41,200 bp
Tssr134921	Chr15:76073166-76073178 (-)	42,406 bp
Tssr134920	Chr15:76064867-76064889 (-)	50,700 bp
Tssr134919	Chr15:76056267-76056277 (-)	59,306 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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