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    Pkp1 plakophilin 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 304822, updated on 27-Nov-2024

    Summary

    Official Symbol
    Pkp1provided by RGD
    Official Full Name
    plakophilin 1provided by RGD
    Primary source
    RGD:1307472
    See related
    EnsemblRapid:ENSRNOG00000010076 AllianceGenome:RGD:1307472
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable DNA binding activity; cadherin binding activity; and lamin binding activity. Predicted to be involved in several processes, including intermediate filament bundle assembly; positive regulation of cell-cell adhesion; and positive regulation of macromolecule biosynthetic process. Predicted to be located in desmosome; nucleus; and perinuclear region of cytoplasm. Predicted to be active in several cellular components, including adherens junction; cornified envelope; and nucleus. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Lung (RPKM 25.0), Thymus (RPKM 23.5) and 6 other tissues See more
    Orthologs
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    Genomic context

    See Pkp1 in Genome Data Viewer
    Location:
    13q13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 13 NC_086031.1 (49861340..49909162, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 13 NC_051348.1 (47309607..47357432, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 13 NC_005112.4 (52705174..52753089, complement)

    Chromosome 13 - NC_086031.1Genomic Context describing neighboring genes Neighboring gene ladinin 1 Neighboring gene troponin T2, cardiac type Neighboring gene immunoglobulin-like and fibronectin type III domain containing 1 Neighboring gene transmembrane protein 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lamin binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in ameloblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ameloblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in desmosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in desmosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in desmosome maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in desmosome maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intermediate filament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of mRNA catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cap-dependent translational initiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of keratinocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein localization to membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transepithelial water transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transepithelial water transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cornified envelope ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in desmosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear stress granule ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

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

    mRNA and Protein(s)

    1. NM_001394216.2NP_001381145.1  plakophilin-1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000013
      UniProtKB/TrEMBL
      A6ICH3, D3ZY51
      Related
      ENSRNOP00000013532.5, ENSRNOT00000013531.7
      Conserved Domains (3) summary
      smart00185
      Location:277317
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:240273
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:516557
      Arm; Armadillo/beta-catenin-like repeat

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086031.1 Reference GRCr8

      Range
      49861340..49909162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001107181.1: Suppressed sequence

      Description
      NM_001107181.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.