Plec plectin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Plecprovided by MGI
Official Full Name: plectinprovided by MGI
Primary source: MGI:MGI:1277961
See related: Ensembl:ENSMUSG00000022565 AllianceGenome:MGI:1277961
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PCN; EBS1; PLTN; Plec1
Summary: Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). It has been shown that the short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (human variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]
Expression: Broad expression in small intestine adult (RPKM 67.8), colon adult (RPKM 65.2) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 D3; 15 35.48 cM

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (76055174..76115578, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (76170974..76231378, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Plectin plays a role in the migration and volume regulation of astrocytes: a potential biomarker of glioblastoma.
Title: Plectin plays a role in the migration and volume regulation of astrocytes: a potential biomarker of glioblastoma.
Novel biallelic variants in the PLEC gene are associated with severe hearing loss.
Title: Novel biallelic variants in the PLEC gene are associated with severe hearing loss.
Plectin ensures intestinal epithelial integrity and protects colon against colitis.
Title: Plectin ensures intestinal epithelial integrity and protects colon against colitis.
Plectin regulates Wnt signaling mediated-skeletal muscle development by interacting with Dishevelled-2 and antagonizing autophagy.
Title: Plectin regulates Wnt signaling mediated-skeletal muscle development by interacting with Dishevelled-2 and antagonizing autophagy.
Our study shows that by maintaining proper keratin network cytoarchitecture and biliary epithelial stability, plectin plays a critical role in protecting the liver from stress elicited by cholestasis.
Title: Plectin controls biliary tree architecture and stability in cholestasis.
data demonstrate that plectin is an essential regulator of nuclear morphology in vitro and in vivo and protects the nucleus from mechanical deformation.
Title: The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes.
Data demonstrate that rodless plectin can functionally compensate for the loss of full-length plectin in mice.
Title: The rod domain is not essential for the function of plectin in maintaining tissue integrity.
results show that the depletion of distinct plectin isoforms affects mitochondrial network organization and function in different ways.
Title: Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.
Binding of calcium-calmodulin (Ca(2+)-CaM) to P1a together with phosphorylation of integrin beta 4 disrupts the complex, resulting in disassembly of hemidesmosomes.
Title: Structural insights into Ca2+-calmodulin regulation of Plectin 1a-integrin β4 interaction in hemidesmosomes.
Plectin bridges acetylcholine receptors and intermediate filaments via direct interaction with the AChR-scaffolding protein rapsyn in an isoform-specific manner.
Title: Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (9) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Plec1 (e-PCR), detects polymorphism
- UniSTS:158753

RH129479 (e-PCR)
- UniSTS:212785

RH125037 (e-PCR)
- UniSTS:161859

G46074 (e-PCR)
- UniSTS:106876

AU042537 (e-PCR)
- UniSTS:160466

RH118359 (e-PCR)
- UniSTS:160986

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables ankyrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables ankyrin binding	ISO Inferred from Sequence Orthology more info
enables cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables dystroglycan binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of cytoskeleton	ISO Inferred from Sequence Orthology more info
enables structural constituent of muscle	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of muscle	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in T cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actomyosin contractile ring assembly actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adherens junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to fluid shear stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hydrostatic pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to mechanical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fibroblast migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemidesmosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in hemidesmosome assembly	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leukocyte migration involved in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination in peripheral nervous system	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleus organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peripheral nervous system myelin maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ATP citrate synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vascular permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to food	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tight junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmission of nerve impulse	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in contractile muscle fiber	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
is_active_in hemidesmosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in hemidesmosome	IDA Inferred from Direct Assay more info	PubMed
located_in hemidesmosome	ISO Inferred from Sequence Orthology more info
colocalizes_with intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial outer membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in myelin sheath	IDA Inferred from Direct Assay more info	PubMed
is_active_in myofibril	IDA Inferred from Direct Assay more info	PubMed
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in sarcoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: plectin

Names: plectin-1; plectin-6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001163540.1 → NP_001157012.1 plectin isoform 12alpha

See identical proteins and their annotated locations for NP_001157012.1

Status: REVIEWED

Description

Transcript Variant: This variant (13), also known as 12alpha, differs in the 5' UTR and the 5' coding region, and contains an additional in-frame coding exon compared to variant 1. The resulting protein (isoform 12alpha) contains a distinct N-terminus and contains a 5 aa internal protein segment compared to isoform 1c. This variant (13) contains the same 5' coding exon as variant 6 but also contains an alternate in-frame exon so the resulting protein contains a 5aa internal segment compared to isoform 1.

Source sequence(s)

AF188008, AI464512, AY480033, CN669707

Consensus CDS

CCDS49647.1

UniProtKB/Swiss-Prot

E9QN87, Q6S384, Q6S389, Q6S394, Q9CS65, Q9QUT2, Q9QXQ8, Q9QXQ9, Q9QXR0, Q9QXR1, Q9QXR2, Q9QXR3, Q9QXR4, Q9QXR5, Q9QXR6, Q9QXR7, Q9QXR8, Q9QXR9, Q9QXS0, Q9QXS1, Q9QXS2, Q9QXS3

UniProtKB/TrEMBL

Q6S388

Related

ENSMUSP00000073124.7, ENSMUST00000073418.13

Conserved Domains (12) summary

smart00150
Location:667 → 761

SPEC; Spectrin repeats

smart00250
Location:3238 → 3274

PLEC; Plectin repeat

cd00014
Location:186 → 293

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:763 → 941

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:308 → 406

CH; Calponin homology (CH) domain

pfam00681
Location:2948 → 2989

Plectin; Plectin repeat

pfam01576
Location:1526 → 2713

Myosin_tail_1; Myosin tail

pfam03501
Location:7 → 101

S10_plectin; Plectin/S10 domain

cd16269
Location:2477 → 2490

GBP_C; coiled coil [structural motif]

cl02488
Location:1871 → 2046

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:2326 → 2510

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1620 → 1743

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001163542.1 → NP_001157014.1 plectin isoform 1c2alpha3alpha

Status: REVIEWED

Description

Transcript Variant: This variant (15), also known as 1c2alpha3alpha, contains two alternate in-frame exons compared to variant 1. This results in a protein (isoform 1c2alpha3alpha) with two internal protein segments (5 and 12 aa, respectively) compared to isoform 1c.

Source sequence(s)

AF188013, AI464512, AY480033, CN669707

Consensus CDS

CCDS49649.1

UniProtKB/TrEMBL

Q6S392

Related

ENSMUSP00000087037.4, ENSMUST00000089610.10

Conserved Domains (10) summary

smart00150
Location:565 → 659

SPEC; Spectrin repeats

smart00250
Location:3136 → 3172

PLEC; Plectin repeat

cd00014
Location:72 → 191

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:661 → 839

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:206 → 304

CH; Calponin homology (CH) domain

pfam00681
Location:2846 → 2887

Plectin; Plectin repeat

pfam01576
Location:1424 → 2611

Myosin_tail_1; Myosin tail

cd16269
Location:2375 → 2388

GBP_C; coiled coil [structural motif]

cl20817
Location:2224 → 2408

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1518 → 1641

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001163549.1 → NP_001157021.1 plectin isoform 1b2alpha

Status: REVIEWED

Description

Transcript Variant: This variant (14), also known as 1b2alpha, differs in the 5' UTR and the 5' coding region, and contains an additional in-frame coding exon compared to variant 1. The resulting protein (isoform 1b2alpha) contains a distinct N-terminus and contains a 5 aa internal protein segment compared to isoform 1c. This variant (14) contains the same 5' coding exon as variant 8 but also contains an alternate in-frame exon so the resulting protein contains a 5aa internal segment compared to isoform 1b.

Source sequence(s)

AF188011, AI464512, AY480033, CN669707

Consensus CDS

CCDS49645.1

UniProtKB/TrEMBL

Q6S387

Related

ENSMUSP00000057158.8, ENSMUST00000054449.14

Conserved Domains (10) summary

smart00150
Location:524 → 618

SPEC; Spectrin repeats

smart00250
Location:3095 → 3131

PLEC; Plectin repeat

cd00014
Location:43 → 150

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:620 → 798

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:165 → 263

CH; Calponin homology (CH) domain

pfam00681
Location:2805 → 2846

Plectin; Plectin repeat

pfam01576
Location:1383 → 2570

Myosin_tail_1; Myosin tail

cd16269
Location:2334 → 2347

GBP_C; coiled coil [structural motif]

cl20817
Location:2183 → 2367

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1477 → 1600

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001164203.1 → NP_001157675.1 plectin isoform 1hij

See identical proteins and their annotated locations for NP_001157675.1

Status: REVIEWED

Description

Transcript Variant: This variant (12), also known as 1j2alpha3alpha, contains an alternate 5' terminal exon and additional exons which result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The resulting protein (isoform 1hij) has a shorter N-terminus compared to isoform 1c. Variants 4, 5, 9 and 12 encode the same protein. Support for the use of the alternate downstream start codon can be found in PMID:14559777.

Source sequence(s)

AC110211, AF188023, AY480037

Consensus CDS

CCDS37117.2

UniProtKB/TrEMBL

E9Q3W4, Q6S390

Related

ENSMUSP00000079668.6, ENSMUST00000080857.12

Conserved Domains (9) summary

smart00150
Location:362 → 456

SPEC; Spectrin repeats

smart00250
Location:2933 → 2969

PLEC; Plectin repeat

cd00176
Location:458 → 636

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:3 → 101

CH; Calponin homology (CH) domain

pfam00681
Location:2643 → 2684

Plectin; Plectin repeat

pfam01576
Location:1221 → 2408

Myosin_tail_1; Myosin tail

cd16269
Location:2172 → 2185

GBP_C; coiled coil [structural motif]

cl20817
Location:2088 → 2205

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1315 → 1438

ATP-synt_B; ATP synthase B/B' CF(0)
NM_011117.2 → NP_035247.2 plectin isoform 1c

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains the 5'-most coding exon (exon 1c) and encodes isoform 1c.

Source sequence(s)

AI464512, AY480033, CN669707

UniProtKB/TrEMBL

Q6S392

Conserved Domains (10) summary

smart00150
Location:548 → 642

SPEC; Spectrin repeats

smart00250
Location:3119 → 3155

PLEC; Plectin repeat

cd00014
Location:72 → 174

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:644 → 822

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:189 → 287

CH; Calponin homology (CH) domain

pfam00681
Location:2829 → 2870

Plectin; Plectin repeat

pfam01576
Location:1407 → 2594

Myosin_tail_1; Myosin tail

cd16269
Location:2358 → 2371

GBP_C; coiled coil [structural motif]

cl20817
Location:2207 → 2391

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1501 → 1624

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201385.2 → NP_958787.2 plectin isoform 1f

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as 1f, differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1f) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AI464512, AY480034, CN669707

Consensus CDS

CCDS37113.1

UniProtKB/TrEMBL

Q6S393

Related

ENSMUSP00000074383.6, ENSMUST00000074834.12

Conserved Domains (10) summary

smart00150
Location:510 → 604

SPEC; Spectrin repeats

smart00250
Location:3081 → 3117

PLEC; Plectin repeat

cd00014
Location:34 → 136

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:606 → 784

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:151 → 249

CH; Calponin homology (CH) domain

pfam00681
Location:2791 → 2832

Plectin; Plectin repeat

pfam01576
Location:1369 → 2556

Myosin_tail_1; Myosin tail

cd16269
Location:2320 → 2333

GBP_C; coiled coil [structural motif]

cl20817
Location:2169 → 2353

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1463 → 1586

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201386.2 → NP_958788.2 plectin isoform 1e

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as 1e, differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1e) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AC110211, AY480035

Consensus CDS

CCDS49648.1

UniProtKB/TrEMBL

Q6S392

Related

ENSMUSP00000071765.6, ENSMUST00000071869.12

Conserved Domains (10) summary

smart00150
Location:497 → 591

SPEC; Spectrin repeats

smart00250
Location:3068 → 3104

PLEC; Plectin repeat

cd00014
Location:21 → 123

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:593 → 771

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:138 → 236

CH; Calponin homology (CH) domain

pfam00681
Location:2778 → 2819

Plectin; Plectin repeat

pfam01576
Location:1356 → 2543

Myosin_tail_1; Myosin tail

cd16269
Location:2307 → 2320

GBP_C; coiled coil [structural motif]

cl20817
Location:2156 → 2340

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1450 → 1573

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201387.3 → NP_958789.3 plectin isoform 1hij

See identical proteins and their annotated locations for NP_958789.3

Status: REVIEWED

Description

Transcript Variant: This variant (4), also known as 1i, contains an alternate 5' terminal exon which results in a distinct 5' UTR and causes translation initiation at a downstream start codon compared to variant 1. The resulting protein (isoform 1hij) has a shorter N-terminus compared to isoform 1c. Variants 4, 5, 9 and 12 encode the same protein. Support for the use of the alternate downstream start codon can be found in PMID:14559777.

Source sequence(s)

AC110211, AY480036

Consensus CDS

CCDS37117.2

UniProtKB/TrEMBL

E9Q3W4, Q6S390

Related

ENSMUSP00000129543.2, ENSMUST00000171562.8

Conserved Domains (9) summary

smart00150
Location:362 → 456

SPEC; Spectrin repeats

smart00250
Location:2933 → 2969

PLEC; Plectin repeat

cd00176
Location:458 → 636

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:3 → 101

CH; Calponin homology (CH) domain

pfam00681
Location:2643 → 2684

Plectin; Plectin repeat

pfam01576
Location:1221 → 2408

Myosin_tail_1; Myosin tail

cd16269
Location:2172 → 2185

GBP_C; coiled coil [structural motif]

cl20817
Location:2088 → 2205

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1315 → 1438

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201388.2 → NP_958790.2 plectin isoform 1hij

See identical proteins and their annotated locations for NP_958790.2

Status: REVIEWED

Description

Transcript Variant: This variant (5), also known as 1j, contains an alternate 5' terminal exon which results in a distinct 5' UTR and causes translation initiation at a downstream start codon compared to variant 1. The resulting protein (isoform 1hij) has a shorter N-terminus compared to isoform 1c. Variants 4, 5, 9 and 12 encode the same protein. Support for the use of the alternate downstream start codon can be found in PMID:14559777.

Source sequence(s)

AC110211, AY480037

Consensus CDS

CCDS37117.2

UniProtKB/TrEMBL

E9Q3W4, Q6S390

Conserved Domains (9) summary

smart00150
Location:362 → 456

SPEC; Spectrin repeats

smart00250
Location:2933 → 2969

PLEC; Plectin repeat

cd00176
Location:458 → 636

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:3 → 101

CH; Calponin homology (CH) domain

pfam00681
Location:2643 → 2684

Plectin; Plectin repeat

pfam01576
Location:1221 → 2408

Myosin_tail_1; Myosin tail

cd16269
Location:2172 → 2185

GBP_C; coiled coil [structural motif]

cl20817
Location:2088 → 2205

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1315 → 1438

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201389.2 → NP_958791.2 plectin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AI464512, AY480038, CN669707

Consensus CDS

CCDS37114.1

UniProtKB/TrEMBL

Q6S388

Related

ENSMUSP00000075772.6, ENSMUST00000076442.12

Conserved Domains (12) summary

smart00150
Location:662 → 756

SPEC; Spectrin repeats

smart00250
Location:3233 → 3269

PLEC; Plectin repeat

cd00014
Location:186 → 288

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:758 → 936

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:303 → 401

CH; Calponin homology (CH) domain

pfam00681
Location:2943 → 2984

Plectin; Plectin repeat

pfam01576
Location:1521 → 2708

Myosin_tail_1; Myosin tail

pfam03501
Location:7 → 101

S10_plectin; Plectin/S10 domain

cd16269
Location:2472 → 2485

GBP_C; coiled coil [structural motif]

cl02488
Location:1866 → 2041

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:2321 → 2505

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1615 → 1738

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201390.2 → NP_958792.2 plectin isoform 1d

Status: REVIEWED

Description

Transcript Variant: This variant (7), also known as 1d, differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1d) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AI464512, AY480039, CN669707

Consensus CDS

CCDS49646.1

UniProtKB/TrEMBL

Q6S388

Related

ENSMUSP00000126068.2, ENSMUST00000169108.8

Conserved Domains (10) summary

smart00150
Location:487 → 581

SPEC; Spectrin repeats

smart00250
Location:3058 → 3094

PLEC; Plectin repeat

cd00014
Location:11 → 113

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:583 → 761

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:128 → 226

CH; Calponin homology (CH) domain

pfam00681
Location:2768 → 2809

Plectin; Plectin repeat

pfam01576
Location:1346 → 2533

Myosin_tail_1; Myosin tail

cd16269
Location:2297 → 2310

GBP_C; coiled coil [structural motif]

cl20817
Location:2213 → 2330

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1440 → 1563

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201391.2 → NP_958793.2 plectin isoform 1b

Status: REVIEWED

Description

Transcript Variant: This variant (8), also known as 1b, differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1b) contains a distinct N-terminus compared to isoform 1c. Plectin isoform 1b has been found to associate exclusively with mitochondria (PMID: 18541706, 14559777).

Source sequence(s)

AI464512, AY480040, CN669707

Consensus CDS

CCDS49644.1

UniProtKB/TrEMBL

Q6S387

Related

ENSMUSP00000126526.2, ENSMUST00000169714.8

Conserved Domains (10) summary

smart00150
Location:519 → 613

SPEC; Spectrin repeats

smart00250
Location:3090 → 3126

PLEC; Plectin repeat

cd00014
Location:43 → 145

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:615 → 793

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:160 → 258

CH; Calponin homology (CH) domain

pfam00681
Location:2800 → 2841

Plectin; Plectin repeat

pfam01576
Location:1378 → 2565

Myosin_tail_1; Myosin tail

cd16269
Location:2329 → 2342

GBP_C; coiled coil [structural motif]

cl20817
Location:2178 → 2362

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1472 → 1595

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201392.2 → NP_958794.2 plectin isoform 1hij

See identical proteins and their annotated locations for NP_958794.2

Status: REVIEWED

Description

Transcript Variant: This variant (9), also known as 1h, contains an alternate 5' terminal exon which results in a distinct 5' UTR and causes translation initiation at a downstream start codon compared to variant 1. The resulting protein (isoform 1hij) has a shorter N-terminus compared to isoform 1c. Variants 4, 5, 9 and 12 encode the same protein. Support for the use of the alternate downstream start codon can be found in PMID:14559777.

Source sequence(s)

AC110211, AY480041

Consensus CDS

CCDS37117.2

UniProtKB/TrEMBL

E9Q3W4, Q6S390

Related

ENSMUSP00000127261.2, ENSMUST00000169438.8

Conserved Domains (9) summary

smart00150
Location:362 → 456

SPEC; Spectrin repeats

smart00250
Location:2933 → 2969

PLEC; Plectin repeat

cd00176
Location:458 → 636

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:3 → 101

CH; Calponin homology (CH) domain

pfam00681
Location:2643 → 2684

Plectin; Plectin repeat

pfam01576
Location:1221 → 2408

Myosin_tail_1; Myosin tail

cd16269
Location:2172 → 2185

GBP_C; coiled coil [structural motif]

cl20817
Location:2088 → 2205

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1315 → 1438

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201393.2 → NP_958795.2 plectin isoform 1g

Status: REVIEWED

Description

Transcript Variant: This variant (10), also known as 1g, differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1g) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AI464512, AY480042, CN669707

Consensus CDS

CCDS37115.1

UniProtKB/TrEMBL

Q6S385

Related

ENSMUSP00000072478.5, ENSMUST00000072692.11

Conserved Domains (10) summary

smart00150
Location:526 → 620

SPEC; Spectrin repeats

smart00250
Location:3097 → 3133

PLEC; Plectin repeat

cd00014
Location:50 → 152

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:622 → 800

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:167 → 265

CH; Calponin homology (CH) domain

pfam00681
Location:2807 → 2848

Plectin; Plectin repeat

pfam01576
Location:1385 → 2572

Myosin_tail_1; Myosin tail

cd16269
Location:2336 → 2349

GBP_C; coiled coil [structural motif]

cl20817
Location:2185 → 2369

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1479 → 1602

ATP-synt_B; ATP synthase B/B' CF(0)
NM_201394.2 → NP_958796.2 plectin isoform 1a

Status: REVIEWED

Description

Transcript Variant: This variant (11), also known as 1a, differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1a) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AI464512, AY480043, CN669707

Consensus CDS

CCDS37116.1

UniProtKB/TrEMBL

Q6S388

Related

ENSMUSP00000023226.7, ENSMUST00000023226.13

Conserved Domains (10) summary

smart00150
Location:519 → 613

SPEC; Spectrin repeats

smart00250
Location:3090 → 3126

PLEC; Plectin repeat

cd00014
Location:43 → 145

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:615 → 793

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:160 → 258

CH; Calponin homology (CH) domain

pfam00681
Location:2800 → 2841

Plectin; Plectin repeat

pfam01576
Location:1378 → 2565

Myosin_tail_1; Myosin tail

cd16269
Location:2329 → 2342

GBP_C; coiled coil [structural motif]

cl20817
Location:2178 → 2362

GBP_C; Guanylate-binding protein, C-terminal domain

cl21478
Location:1472 → 1595

ATP-synt_B; ATP synthase B/B' CF(0)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

76055174..76115578 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_028117.1: Suppressed sequence

Description

NR_028117.1: This RefSeq was permanently suppressed because there is support for the transcript as protein coding.