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PLEC plectin [ Homo sapiens (human) ]

Gene ID: 5339, updated on 11-Sep-2014
Official Symbol
PLECprovided by HGNC
Official Full Name
plectinprovided by HGNC
Primary source
HGNC:HGNC:9069
See related
Ensembl:ENSG00000178209; HPRD:03180; MIM:601282; Vega:OTTHUMG00000165291
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; PLEC1; LGMD2Q; PLEC1b
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 These names were superseded by plectin.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]
See PLEC in Epigenomics, MapViewer
Location:
8q24
Exon count:
43
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (143915147..143976745, 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 receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

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 Protein Interaction Database

  • Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem"Integrins are cell surface heterodimeric protein complex consisting of one alpha and one beta chain. Integrins act as cell adhesion molecules as well as participate in cellular signaling. The ligand...
  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystem (from REACTOME)
    Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystemCaspase-mediated cleavage of a number of proteins in the cortical actin network ( ) microfilament system and others involved in maintenance of the cytoskeletal architecture (vimentin, or Gas2 and ...
  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Type I hemidesmosome assembly, organism-specific biosystem (from REACTOME)
    Type I hemidesmosome assembly, organism-specific biosystemHemidesmosomes (HDs) are specialized multiprotein junctional complexes that connect the keratin cytoskeleton of epithelial cells to the extracellular matrix and play a critical role in the maintenan...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
ankyrin binding IPI
Inferred from Physical Interaction
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
apoptotic process TAS
Traceable Author Statement
more info
 
cell junction assembly TAS
Traceable Author Statement
more info
 
cellular component disassembly involved in execution phase of apoptosis TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
hemidesmosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
hemidesmosome assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
costamere TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
 
hemidesmosome IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
sarcolemma IDA
Inferred from Direct Assay
more info
 
sarcoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
plectin
Names
plectin
hemidesmosomal protein 1
plectin 1, intermediate filament binding protein 500kDa

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 

    Range
    5001..66599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000445.4NP_000436.2  plectin isoform 1c

    See proteins identical to 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, BM681271, BP312608
    Consensus CDS
    CCDS43769.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000388180, OTTHUMP00000229287, ENST00000436759, OTTHUMT00000383284
    Conserved Domains (9) summary
    pfam01576
    Location:17042506
    Blast Score: 196
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39533990
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40674111
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:70172
    Blast Score: 271
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:14121959
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13641469
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:15011625
    Blast Score: 104
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23472425
    Blast Score: 99
    HemX; HemX
  2. NM_201378.3NP_958780.1  plectin isoform 1f

    See proteins identical to 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, BM681271, BP315878
    Consensus CDS
    CCDS43770.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000348702, OTTHUMP00000229286, ENST00000356346, OTTHUMT00000383283
    Conserved Domains (9) summary
    pfam01576
    Location:16632465
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39123949
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40264070
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:29131
    Blast Score: 271
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13711918
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13231428
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14601584
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23062384
    Blast Score: 99
    HemX; HemX
  3. NM_201379.2NP_958781.1  plectin isoform 1e

    See proteins identical to 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, BM681271
    Consensus CDS
    CCDS43771.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000347044, OTTHUMP00000229285, ENST00000354958, OTTHUMT00000383282
    Conserved Domains (9) summary
    pfam01576
    Location:16552457
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39043941
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40184062
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:21123
    Blast Score: 271
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13631910
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13151420
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14521576
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:22982376
    Blast Score: 99
    HemX; HemX
  4. NM_201380.3NP_958782.1  plectin isoform 1

    See proteins identical to 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, BM681271
    Consensus CDS
    CCDS43772.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000323856, OTTHUMP00000229284, ENST00000322810, OTTHUMT00000383281
    Conserved Domains (10) summary
    pfam01576
    Location:18162616
    Blast Score: 203
    Myosin_tail_1; Myosin tail
    smart00250
    Location:40634100
    Blast Score: 113
    PLEC; Plectin repeat
    pfam00681
    Location:41774221
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:180282
    Blast Score: 272
    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
    Blast Score: 189
    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; ...
    pfam03501
    Location:7104
    Blast Score: 434
    S10_plectin; Plectin/S10 domain
    pfam05701
    Location:15222069
    Blast Score: 169
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:14741579
    Blast Score: 106
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:16111735
    Blast Score: 106
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:24572535
    Blast Score: 100
    HemX; HemX
  5. NM_201381.2NP_958783.1  plectin isoform 1d

    See proteins identical to 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)
    AY480048, BM681271
    Consensus CDS
    CCDS47936.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000381756, OTTHUMP00000229283, ENST00000398774, OTTHUMT00000383280
    Conserved Domains (9) summary
    pfam01576
    Location:16452447
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:38943931
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40084052
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:11113
    Blast Score: 271
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13531900
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13051410
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14421566
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:22882366
    Blast Score: 99
    HemX; HemX
  6. NM_201382.3NP_958784.1  plectin isoform 1b

    See proteins identical to 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, BM681271, BP231761
    Consensus CDS
    CCDS43773.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000346602, OTTHUMP00000229282, ENST00000354589, OTTHUMT00000383279
    Conserved Domains (9) summary
    pfam01576
    Location:16772479
    Blast Score: 198
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39263963
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40404084
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:43145
    Blast Score: 271
    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
    Blast Score: 187
    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; ...
    pfam05701
    Location:13851932
    Blast Score: 165
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13371442
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14741598
    Blast Score: 104
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23202398
    Blast Score: 99
    HemX; HemX
  7. NM_201383.2NP_958785.1  plectin isoform 1g

    See proteins identical to 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)
    AY480050, BM681271
    Consensus CDS
    CCDS43774.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000350277, OTTHUMP00000229627, ENST00000357649, OTTHUMT00000383855
    Conserved Domains (9) summary
    pfam01576
    Location:16812483
    Blast Score: 198
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39303967
    Blast Score: 113
    PLEC; Plectin repeat
    pfam00681
    Location:40444088
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:47149
    Blast Score: 271
    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
    Blast Score: 187
    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; ...
    pfam05701
    Location:13891936
    Blast Score: 166
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13411446
    Blast Score: 106
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14781602
    Blast Score: 104
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23242402
    Blast Score: 99
    HemX; HemX
  8. NM_201384.2NP_958786.1  plectin isoform 1a

    See proteins identical to 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)
    AY480051, BM681271
    Consensus CDS
    CCDS43775.1
    UniProtKB/Swiss-Prot
    Q15149
    Related
    ENSP00000344848, OTTHUMP00000229626, ENST00000345136, OTTHUMT00000383854
    Conserved Domains (9) summary
    pfam01576
    Location:16772479
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39263963
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40404084
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:43145
    Blast Score: 271
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13851932
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13371442
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14741598
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23202398
    Blast Score: 99
    HemX; HemX

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    143915147..143976745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716588.1XP_006716651.1  

    Conserved Domains (9) summary
    pfam01576
    Location:17092511
    Blast Score: 196
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39583995
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40724116
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:70177
    Blast Score: 265
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:14171964
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13691474
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:15061630
    Blast Score: 104
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23522430
    Blast Score: 99
    HemX; HemX
  2. XM_005250981.1XP_005251038.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16682470
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39173954
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40314075
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:29136
    Blast Score: 265
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13761923
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13281433
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14651589
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23112389
    Blast Score: 99
    HemX; HemX
  3. XM_005250982.1XP_005251039.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16602462
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39093946
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40234067
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:21128
    Blast Score: 265
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13681915
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13201425
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14571581
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23032381
    Blast Score: 99
    HemX; HemX
  4. XM_005250977.1XP_005251034.1  

    Conserved Domains (10) summary
    pfam01576
    Location:18172617
    Blast Score: 203
    Myosin_tail_1; Myosin tail
    smart00250
    Location:40644101
    Blast Score: 113
    PLEC; Plectin repeat
    pfam00681
    Location:41784222
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:180287
    Blast Score: 266
    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:756945
    Blast Score: 189
    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; ...
    pfam03501
    Location:7104
    Blast Score: 434
    S10_plectin; Plectin/S10 domain
    pfam05701
    Location:15232070
    Blast Score: 169
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:14751580
    Blast Score: 106
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:16121736
    Blast Score: 106
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:24582536
    Blast Score: 100
    HemX; HemX
  5. XM_006716591.1XP_006716654.1  

    Conserved Domains (5) summary
    smart00250
    Location:29412978
    Blast Score: 116
    PLEC; Plectin repeat
    pfam00681
    Location:30553099
    Blast Score: 177
    Plectin; Plectin repeat
    cd00014
    Location:180287
    Blast Score: 266
    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
    Blast Score: 219
    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; ...
    pfam03501
    Location:7104
    Blast Score: 433
    S10_plectin; Plectin/S10 domain
  6. XM_005250976.1XP_005251033.1  

    Conserved Domains (10) summary
    pfam01576
    Location:18212621
    Blast Score: 203
    Myosin_tail_1; Myosin tail
    smart00250
    Location:40684105
    Blast Score: 113
    PLEC; Plectin repeat
    pfam00681
    Location:41824226
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:180287
    Blast Score: 266
    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
    Blast Score: 189
    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; ...
    pfam03501
    Location:7104
    Blast Score: 434
    S10_plectin; Plectin/S10 domain
    pfam05701
    Location:15272074
    Blast Score: 169
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:14791584
    Blast Score: 106
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:16161740
    Blast Score: 106
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:24622540
    Blast Score: 100
    HemX; HemX
  7. XM_005250983.1XP_005251040.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16542456
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39033940
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40174061
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:20122
    Blast Score: 271
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13621909
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13141419
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14511575
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:22972375
    Blast Score: 99
    HemX; HemX
  8. XM_006716589.1XP_006716652.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16592461
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39083945
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40224066
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:20127
    Blast Score: 265
    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
    Blast Score: 185
    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; ...
    pfam05701
    Location:13671914
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13191424
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14561580
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23022380
    Blast Score: 99
    HemX; HemX
  9. XM_005250984.2XP_005251041.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16502452
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:38993936
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40134057
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:11118
    Blast Score: 265
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13581905
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13101415
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14471571
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:22932371
    Blast Score: 99
    HemX; HemX
  10. XM_005250979.2XP_005251036.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16822484
    Blast Score: 198
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39313968
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40454089
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:43150
    Blast Score: 265
    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
    Blast Score: 187
    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; ...
    pfam05701
    Location:13901937
    Blast Score: 165
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13421447
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14791603
    Blast Score: 104
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23252403
    Blast Score: 99
    HemX; HemX
  11. XM_005250978.1XP_005251035.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16862488
    Blast Score: 198
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39353972
    Blast Score: 113
    PLEC; Plectin repeat
    pfam00681
    Location:40494093
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:47154
    Blast Score: 265
    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
    Blast Score: 187
    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; ...
    pfam05701
    Location:13941941
    Blast Score: 166
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13461451
    Blast Score: 106
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14831607
    Blast Score: 104
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23292407
    Blast Score: 99
    HemX; HemX
  12. XM_005250980.2XP_005251037.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16822484
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39313968
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40454089
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:43150
    Blast Score: 265
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13901937
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13421447
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14791603
    Blast Score: 103
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23252403
    Blast Score: 99
    HemX; HemX
  13. XM_006716590.1XP_006716653.1  

    Conserved Domains (9) summary
    pfam01576
    Location:16592461
    Blast Score: 195
    Myosin_tail_1; Myosin tail
    smart00250
    Location:39083945
    Blast Score: 112
    PLEC; Plectin repeat
    pfam00681
    Location:40224066
    Blast Score: 171
    Plectin; Plectin repeat
    cd00014
    Location:20127
    Blast Score: 265
    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
    Blast Score: 186
    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; ...
    pfam05701
    Location:13671914
    Blast Score: 164
    WEMBL; Weak chloroplast movement under blue light
    cl19107
    Location:13191424
    Blast Score: 105
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl19113
    Location:14561580
    Blast Score: 104
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
    cl19375
    Location:23022380
    Blast Score: 99
    HemX; HemX

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    140243467..140304261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    145029540..145091031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)