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PLEC plectin [ Homo sapiens (human) ]

Gene ID: 5339, updated on 24-Nov-2020

Summary

Official Symbol
PLECprovided by HGNC
Official Full Name
plectinprovided by HGNC
Primary source
HGNC:HGNC:9069
See related
Ensembl:ENSG00000178209 MIM:601282
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HD1; PCN; EBS1; EBSO; PLTN; EBSMD; EBSND; EBSOG; EBSPA; PLEC1; LGMD2Q; PLEC1b; LGMDR17
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, and 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 These names were superseded by plectin.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). 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 (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
Ubiquitous expression in skin (RPKM 18.0), colon (RPKM 16.2) and 25 other tissues See more
Orthologs

Genomic context

See PLEC in Genome Data Viewer
Location:
8q24.3
Exon count:
43
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (143915153..143976800, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144989321..145050913, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding protein 2 Neighboring gene microRNA 6845 Neighboring gene epiplakin 1 Neighboring gene microRNA 661 Neighboring gene poly(ADP-ribose) polymerase family member 10 Neighboring gene glutamate ionotropic receptor NMDA type subunit associated protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Epidermolysis bullosa junctionalis with pyloric atresia Compare labs
Epidermolysis bullosa simplex with muscular dystrophy
MedGen: C2931072 OMIM: 226670 GeneReviews: Not available
Compare labs
Epidermolysis bullosa simplex with nail dystrophy
MedGen: C4225309 OMIM: 616487 GeneReviews: Not available
Compare labs
Epidermolysis bullosa simplex with pyloric atresia
MedGen: C2677349 OMIM: 612138 GeneReviews: Not available
Compare labs
Epidermolysis bullosa simplex, Ogna type
MedGen: C0432317 OMIM: 131950 GeneReviews: Not available
Compare labs
Limb-girdle muscular dystrophy, type 2Q
MedGen: C3150989 OMIM: 613723 GeneReviews: Not available
Compare labs
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif Variants of HIV-1 Vif have been shown to form perinuclear aggregates and relocalize plectin to these structures PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of plectin (PLEC) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
ankyrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ankyrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of muscle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
hemidesmosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemidesmosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
hemidesmosome assembly TAS
Traceable Author Statement
more info
 
intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
wound healing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
brush border IEA
Inferred from Electronic Annotation
more info
 
costamere TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
focal adhesion HDA PubMed 
focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
 
hemidesmosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemidesmosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
plectin
Names
hemidesmosomal protein 1
plectin 1, intermediate filament binding protein 500kDa

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012492.1 RefSeqGene

    Range
    5001..66593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000445.5NP_000436.2  plectin isoform 1c

    See identical proteins and their annotated locations for NP_000436.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains the 5'-most coding exon (exon 1c) and encodes isoform 1c.
    Source sequence(s)
    AY480044, BP312608
    Consensus CDS
    CCDS43769.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000388180.2, ENST00000436759.6
    Conserved Domains (10) summary
    smart00250
    Location:31213157
    PLEC; Plectin repeat
    cd00014
    Location:70172
    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:645834
    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:187285
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40684109
    Plectin; Plectin repeat
    pfam01576
    Location:13702493
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14701481
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17531955
    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:13791506
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:15051625
    ATP-synt_B; ATP synthase B/B' CF(0)
  2. NM_201378.4NP_958780.1  plectin isoform 1f

    See identical proteins and their annotated locations for NP_958780.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) 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. Plectin isoform 1f has been found to be concentrated in vinculin-positive structures at actin stress fiber ends (PMID: 14559777).
    Source sequence(s)
    AY480045, BP315878
    Consensus CDS
    CCDS43770.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000348702.3, ENST00000356346.7
    Conserved Domains (10) summary
    smart00250
    Location:30803116
    PLEC; Plectin repeat
    cd00014
    Location:29131
    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:604793
    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:146244
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40274068
    Plectin; Plectin repeat
    pfam01576
    Location:13292452
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14291440
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17121914
    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:13381465
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14641584
    ATP-synt_B; ATP synthase B/B' CF(0)
  3. NM_201379.3NP_958781.1  plectin isoform 1e

    See identical proteins and their annotated locations for NP_958781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) 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)
    AY480046
    Consensus CDS
    CCDS43771.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000347044.2, ENST00000354958.6
    Conserved Domains (10) summary
    smart00250
    Location:30723108
    PLEC; Plectin repeat
    cd00014
    Location:21123
    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:596785
    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:138236
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40194060
    Plectin; Plectin repeat
    pfam01576
    Location:13212444
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14211432
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17041906
    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:13301457
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14561576
    ATP-synt_B; ATP synthase B/B' CF(0)
  4. NM_201380.4NP_958782.1  plectin isoform 1

    See identical proteins and their annotated locations for NP_958782.1

    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)
    AC109322, AY480047
    Consensus CDS
    CCDS43772.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000323856.4, ENST00000322810.8
    Conserved Domains (11) summary
    smart00250
    Location:32313267
    PLEC; Plectin repeat
    cd00014
    Location:180282
    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:755944
    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:297395
    CH; Calponin homology (CH) domain
    pfam00681
    Location:41784219
    Plectin; Plectin repeat
    pfam01576
    Location:14802603
    Myosin_tail_1; Myosin tail
    pfam03501
    Location:7101
    S10_plectin; Plectin/S10 domain
    cd16269
    Location:15801591
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:18632065
    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:14891616
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:16151735
    ATP-synt_B; ATP synthase B/B' CF(0)
  5. NM_201381.3NP_958783.1  plectin isoform 1d

    See identical proteins and their annotated locations for NP_958783.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) 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. Plectin isoform 1d has been found associated with Z-disks in skeletal muscle (PMID: 17389230).
    Source sequence(s)
    AC109322, AY480048
    Consensus CDS
    CCDS47936.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000381756.2, ENST00000398774.6
    Conserved Domains (10) summary
    smart00250
    Location:30623098
    PLEC; Plectin repeat
    cd00014
    Location:11113
    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:586775
    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:128226
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40094050
    Plectin; Plectin repeat
    pfam01576
    Location:13112434
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14111422
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:16941896
    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:13201447
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14461566
    ATP-synt_B; ATP synthase B/B' CF(0)
  6. NM_201382.4NP_958784.1  plectin isoform 1b

    See identical proteins and their annotated locations for NP_958784.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) 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)
    AC109322, AY480049, BP231761
    Consensus CDS
    CCDS43773.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000346602.3, ENST00000354589.7
    Conserved Domains (10) summary
    smart00250
    Location:30943130
    PLEC; Plectin repeat
    cd00014
    Location:43145
    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:618807
    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:160258
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40414082
    Plectin; Plectin repeat
    pfam01576
    Location:13432466
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14431454
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17261928
    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:13521479
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14781598
    ATP-synt_B; ATP synthase B/B' CF(0)
  7. NM_201383.3NP_958785.1  plectin isoform 1g

    See identical proteins and their annotated locations for NP_958785.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) 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)
    AC109322, AY480050
    Consensus CDS
    CCDS43774.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000350277.2, ENST00000357649.6
    Conserved Domains (10) summary
    smart00250
    Location:30983134
    PLEC; Plectin repeat
    cd00014
    Location:47149
    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:622811
    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:164262
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40454086
    Plectin; Plectin repeat
    pfam01576
    Location:13472470
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14471458
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17301932
    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:13561483
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14821602
    ATP-synt_B; ATP synthase B/B' CF(0)
  8. NM_201384.3NP_958786.1  plectin isoform 1a

    See identical proteins and their annotated locations for NP_958786.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) 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. Plectin isoform 1a has been found to associate specifically with hemidesmosome-like structures in keratinocytes (PMID: 12542521).
    Source sequence(s)
    AC109322, AY480051
    Consensus CDS
    CCDS43775.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000344848.3, ENST00000345136.7
    Conserved Domains (10) summary
    smart00250
    Location:30943130
    PLEC; Plectin repeat
    cd00014
    Location:43145
    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:618807
    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:160258
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40414082
    Plectin; Plectin repeat
    pfam01576
    Location:13432466
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14431454
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17261928
    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:13521479
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14781598
    ATP-synt_B; ATP synthase B/B' CF(0)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    143915153..143976800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716588.3XP_006716651.1  plectin isoform X4

    Conserved Domains (10) summary
    smart00250
    Location:31263162
    PLEC; Plectin repeat
    cd00014
    Location:70177
    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:650839
    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:192290
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40734114
    Plectin; Plectin repeat
    pfam01576
    Location:13752498
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14751486
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17581960
    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:13841511
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:15101630
    ATP-synt_B; ATP synthase B/B' CF(0)
  2. XM_005250981.3XP_005251038.1  plectin isoform X7

    Conserved Domains (10) summary
    smart00250
    Location:30853121
    PLEC; Plectin repeat
    cd00014
    Location:29136
    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:609798
    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:151249
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40324073
    Plectin; Plectin repeat
    pfam01576
    Location:13342457
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14341445
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17171919
    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:13431470
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14691589
    ATP-synt_B; ATP synthase B/B' CF(0)
  3. XM_005250982.4XP_005251039.1  plectin isoform X8

    Conserved Domains (10) summary
    smart00250
    Location:30773113
    PLEC; Plectin repeat
    cd00014
    Location:21128
    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:601790
    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:143241
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40244065
    Plectin; Plectin repeat
    pfam01576
    Location:13262449
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14261437
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17091911
    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:13351462
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14611581
    ATP-synt_B; ATP synthase B/B' CF(0)
  4. XM_005250976.4XP_005251033.1  plectin isoform X3

    Conserved Domains (11) summary
    smart00250
    Location:32363272
    PLEC; Plectin repeat
    cd00014
    Location:180287
    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:760949
    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:302400
    CH; Calponin homology (CH) domain
    pfam00681
    Location:41834224
    Plectin; Plectin repeat
    pfam01576
    Location:14852608
    Myosin_tail_1; Myosin tail
    pfam03501
    Location:7101
    S10_plectin; Plectin/S10 domain
    cd16269
    Location:15851596
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:18682070
    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:14941621
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:16201740
    ATP-synt_B; ATP synthase B/B' CF(0)
  5. XM_005250983.2XP_005251040.1  plectin isoform X12

    Conserved Domains (10) summary
    smart00250
    Location:30713107
    PLEC; Plectin repeat
    cd00014
    Location:20122
    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:595784
    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:137235
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40184059
    Plectin; Plectin repeat
    pfam01576
    Location:13202443
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14201431
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17031905
    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:13291456
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14551575
    ATP-synt_B; ATP synthase B/B' CF(0)
  6. XM_006716589.2XP_006716652.1  plectin isoform X9

    Conserved Domains (10) summary
    smart00250
    Location:30763112
    PLEC; Plectin repeat
    cd00014
    Location:20127
    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:600789
    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:142240
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40234064
    Plectin; Plectin repeat
    pfam01576
    Location:13252448
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14251436
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17081910
    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:13341461
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14601580
    ATP-synt_B; ATP synthase B/B' CF(0)
  7. XM_005250984.5XP_005251041.1  plectin isoform X13

    Conserved Domains (10) summary
    smart00250
    Location:30673103
    PLEC; Plectin repeat
    cd00014
    Location:11118
    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:591780
    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:133231
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40144055
    Plectin; Plectin repeat
    pfam01576
    Location:13162439
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14161427
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:16991901
    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:13251452
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14511571
    ATP-synt_B; ATP synthase B/B' CF(0)
  8. XM_005250979.4XP_005251036.1  plectin isoform X6

    Conserved Domains (10) summary
    smart00250
    Location:30993135
    PLEC; Plectin repeat
    cd00014
    Location:43150
    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:623812
    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:165263
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40464087
    Plectin; Plectin repeat
    pfam01576
    Location:13482471
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14481459
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17311933
    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:13571484
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14831603
    ATP-synt_B; ATP synthase B/B' CF(0)
  9. XM_011517130.2XP_011515432.1  plectin isoform X2

    Conserved Domains (10) summary
    smart00250
    Location:30993135
    PLEC; Plectin repeat
    cd00014
    Location:47154
    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:623812
    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:169267
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40464087
    Plectin; Plectin repeat
    pfam01576
    Location:13482471
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14481459
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17311933
    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:13571484
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14831603
    ATP-synt_B; ATP synthase B/B' CF(0)
  10. XM_005250978.3XP_005251035.1  plectin isoform X1

    Conserved Domains (10) summary
    smart00250
    Location:31033139
    PLEC; Plectin repeat
    cd00014
    Location:47154
    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:627816
    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:169267
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40504091
    Plectin; Plectin repeat
    pfam01576
    Location:13522475
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14521463
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17351937
    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:13611488
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14871607
    ATP-synt_B; ATP synthase B/B' CF(0)
  11. XM_011517132.2XP_011515434.1  plectin isoform X14

    Related
    ENSP00000433982.2, ENST00000527303.2
    Conserved Domains (5) summary
    smart00250
    Location:19762012
    PLEC; Plectin repeat
    cd00014
    Location:47154
    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:627816
    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:169267
    CH; Calponin homology (CH) domain
    pfam00681
    Location:29232964
    Plectin; Plectin repeat
  12. XM_005250980.4XP_005251037.1  plectin isoform X5

    Conserved Domains (10) summary
    smart00250
    Location:30993135
    PLEC; Plectin repeat
    cd00014
    Location:43150
    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:623812
    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:165263
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40464087
    Plectin; Plectin repeat
    pfam01576
    Location:13482471
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14481459
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17311933
    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:13571484
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14831603
    ATP-synt_B; ATP synthase B/B' CF(0)
  13. XM_006716590.3XP_006716653.1  plectin isoform X10

    Conserved Domains (10) summary
    smart00250
    Location:30763112
    PLEC; Plectin repeat
    cd00014
    Location:20127
    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:600789
    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:142240
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40234064
    Plectin; Plectin repeat
    pfam01576
    Location:13252448
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14251436
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17081910
    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:13341461
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14601580
    ATP-synt_B; ATP synthase B/B' CF(0)
  14. XM_011517131.2XP_011515433.1  plectin isoform X11

    Conserved Domains (10) summary
    smart00250
    Location:30713107
    PLEC; Plectin repeat
    cd00014
    Location:20122
    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:595784
    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:137235
    CH; Calponin homology (CH) domain
    pfam00681
    Location:40184059
    Plectin; Plectin repeat
    pfam01576
    Location:13202443
    Myosin_tail_1; Myosin tail
    cd16269
    Location:14201431
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:17031905
    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:13291456
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl21478
    Location:14551575
    ATP-synt_B; ATP synthase B/B' CF(0)
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