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    PLEC plectin [ Homo sapiens (human) ]

    Gene ID: 5339, updated on 18-Aug-2016
    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; EBSMD; EBSND; EBSOG; EBSPA; 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 These names were superseded by plectin.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]
    Orthologs
    Location:
    8q24
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (143915147..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

    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 Interaction Database

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    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
    PubMed 
    cadherin binding involved in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    hemidesmosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    brush border IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    costamere TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    sarcoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    plectin
    Names
    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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000445.4NP_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, BM681271, BP312608
      Consensus CDS
      CCDS43769.1
      UniProtKB/Swiss-Prot
      Q15149
      Related
      ENSP00000388180, OTTHUMP00000229287, ENST00000436759, OTTHUMT00000383284
      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_201378.3NP_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, BM681271, BP315878
      Consensus CDS
      CCDS43770.1
      UniProtKB/Swiss-Prot
      Q15149
      Related
      ENSP00000348702, OTTHUMP00000229286, ENST00000356346, OTTHUMT00000383283
      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_201379.2NP_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, BM681271
      Consensus CDS
      CCDS43771.1
      UniProtKB/Swiss-Prot
      Q15149
      Related
      ENSP00000347044, OTTHUMP00000229285, ENST00000354958, OTTHUMT00000383282
      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_201380.3NP_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, BM681271
      Consensus CDS
      CCDS43772.1
      UniProtKB/Swiss-Prot
      Q15149
      Related
      ENSP00000323856, OTTHUMP00000229284, ENST00000322810, OTTHUMT00000383281
      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_201381.2NP_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)
      AY480048, BM681271
      Consensus CDS
      CCDS47936.1
      UniProtKB/Swiss-Prot
      Q15149
      Related
      ENSP00000381756, OTTHUMP00000229283, ENST00000398774, OTTHUMT00000383280
      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_201382.3NP_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, BM681271, BP231761
      Consensus CDS
      CCDS43773.1
      UniProtKB/Swiss-Prot
      Q15149
      Related
      ENSP00000346602, OTTHUMP00000229282, ENST00000354589, OTTHUMT00000383279
      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_201383.2NP_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)
      AY480050, BM681271
      Consensus CDS
      CCDS43774.1
      UniProtKB/Swiss-Prot
      Q15149
      Related
      ENSP00000350277, OTTHUMP00000229627, ENST00000357649, OTTHUMT00000383855
      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_201384.2NP_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)
      AY480051, BM681271
      Consensus CDS
      CCDS43775.1
      UniProtKB/Swiss-Prot
      Q15149
      Related
      ENSP00000344848, OTTHUMP00000229626, ENST00000345136, OTTHUMT00000383854
      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 Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      143915147..143976800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716588.3XP_006716651.1  

      Conserved Domains (10) summary
      pfam01576
      Location:17092511
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39583995
      PLEC; Plectin repeat
      pfam00681
      Location:40724116
      Plectin; 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; ...
      pfam05701
      Location:14171964
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:15061630
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23522430
      HemX; HemX
      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; ...
      cl19107
      Location:13691474
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    2. XM_005250981.3XP_005251038.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16682470
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39173954
      PLEC; Plectin repeat
      pfam00681
      Location:40314075
      Plectin; 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; ...
      pfam05701
      Location:13761923
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14651589
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23112389
      HemX; HemX
      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; ...
      cl19107
      Location:13281433
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    3. XM_005250982.3XP_005251039.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16602462
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39093946
      PLEC; Plectin repeat
      pfam00681
      Location:40234067
      Plectin; 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; ...
      pfam05701
      Location:13681915
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14571581
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23032381
      HemX; HemX
      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; ...
      cl19107
      Location:13201425
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    4. XM_005250976.3XP_005251033.1  

      Conserved Domains (11) summary
      pfam01576
      Location:18212621
      Myosin_tail_1; Myosin tail
      smart00250
      Location:40684105
      PLEC; Plectin repeat
      pfam00681
      Location:41824226
      Plectin; 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; ...
      pfam03501
      Location:7104
      S10_plectin; Plectin/S10 domain
      pfam05701
      Location:15272074
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:16161740
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:24622540
      HemX; HemX
      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; ...
      cl19107
      Location:14791584
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    5. XM_005250983.2XP_005251040.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16542456
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39033940
      PLEC; Plectin repeat
      pfam00681
      Location:40174061
      Plectin; 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; ...
      pfam05701
      Location:13621909
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14511575
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:22972375
      HemX; HemX
      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; ...
      cl19107
      Location:13141419
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    6. XM_006716589.2XP_006716652.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16592461
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39083945
      PLEC; Plectin repeat
      pfam00681
      Location:40224066
      Plectin; 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; ...
      pfam05701
      Location:13671914
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14561580
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23022380
      HemX; HemX
      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; ...
      cl19107
      Location:13191424
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    7. XM_005250984.4XP_005251041.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16502452
      Myosin_tail_1; Myosin tail
      smart00250
      Location:38993936
      PLEC; Plectin repeat
      pfam00681
      Location:40134057
      Plectin; 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; ...
      pfam05701
      Location:13581905
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14471571
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:22932371
      HemX; HemX
      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; ...
      cl19107
      Location:13101415
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    8. XM_005250979.4XP_005251036.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16822484
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39313968
      PLEC; Plectin repeat
      pfam00681
      Location:40454089
      Plectin; 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; ...
      pfam05701
      Location:13901937
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14791603
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23252403
      HemX; HemX
      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; ...
      cl19107
      Location:13421447
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    9. XM_011517130.2XP_011515432.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16822484
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39313968
      PLEC; Plectin repeat
      pfam00681
      Location:40454089
      Plectin; 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; ...
      pfam05701
      Location:13901937
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14791603
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23252403
      HemX; HemX
      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; ...
      cl19107
      Location:13421447
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    10. XM_005250978.3XP_005251035.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16862488
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39353972
      PLEC; Plectin repeat
      pfam00681
      Location:40494093
      Plectin; 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; ...
      pfam05701
      Location:13941941
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14831607
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23292407
      HemX; HemX
      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; ...
      cl19107
      Location:13461451
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    11. XM_011517132.2XP_011515434.1  

      Conserved Domains (4) summary
      smart00250
      Location:28082845
      PLEC; Plectin repeat
      pfam00681
      Location:29222966
      Plectin; 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; ...
    12. XM_005250980.4XP_005251037.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16822484
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39313968
      PLEC; Plectin repeat
      pfam00681
      Location:40454089
      Plectin; 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; ...
      pfam05701
      Location:13901937
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14791603
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23252403
      HemX; HemX
      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; ...
      cl19107
      Location:13421447
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    13. XM_006716590.3XP_006716653.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16592461
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39083945
      PLEC; Plectin repeat
      pfam00681
      Location:40224066
      Plectin; 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; ...
      pfam05701
      Location:13671914
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14561580
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:23022380
      HemX; HemX
      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; ...
      cl19107
      Location:13191424
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    14. XM_011517131.2XP_011515433.1  

      Conserved Domains (10) summary
      pfam01576
      Location:16542456
      Myosin_tail_1; Myosin tail
      smart00250
      Location:39033940
      PLEC; Plectin repeat
      pfam00681
      Location:40174061
      Plectin; 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; ...
      pfam05701
      Location:13621909
      WEMBL; Weak chloroplast movement under blue light
      pfam12718
      Location:14511575
      Tropomyosin_1; Tropomyosin like
      cl19375
      Location:22972375
      HemX; HemX
      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; ...
      cl19107
      Location:13141419
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

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