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    Pkp1 plakophilin 1 [ Mus musculus (house mouse) ]

    Gene ID: 18772, updated on 12-May-2024

    Summary

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    Official Symbol
    Pkp1provided by MGI
    Official Full Name
    plakophilin 1provided by MGI
    Primary source
    MGI:MGI:1328359
    See related
    Ensembl:ENSMUSG00000026413 AllianceGenome:MGI:1328359
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable cadherin binding activity and lamin binding activity. Predicted to be involved in several processes, including cell-cell junction assembly; intermediate filament bundle assembly; and negative regulation of mRNA catabolic process. Predicted to act upstream of or within cell adhesion. Located in desmosome. Is expressed in alimentary system; larynx; sensory organ; skin; and urethra. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in stomach adult (RPKM 26.4), limb E14.5 (RPKM 12.9) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 E4; 1 59.35 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (135799132..135846945, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (135871394..135919207, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene ladinin Neighboring gene troponin T2, cardiac Neighboring gene STARR-seq mESC enhancer starr_02397 Neighboring gene immunoglobulin-like and fibronectin type III domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_02398 Neighboring gene STARR-seq mESC enhancer starr_02399 Neighboring gene STARR-positive B cell enhancer ABC_E10039 Neighboring gene STARR-positive B cell enhancer ABC_E4348 Neighboring gene transmembrane protein 9 Neighboring gene achaete-scute family bHLH transcription factor 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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

    Bibliography

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    Related articles in PubMed

    1. Coexpression network analysis identified that plakophilin 1 is associated with the metastasis in human melanoma. Wang HZ, et al. Biomed Pharmacother, 2019 Mar. PMID 30841437
    2. Growth Retardation, Loss of Desmosomal Adhesion, and Impaired Tight Junction Function Identify a Unique Role of Plakophilin 1 In Vivo. Rietscher K, et al. J Invest Dermatol, 2016 Jul. PMID 27033150
    3. Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion? Hatzfeld M. Biochim Biophys Acta, 2007 Jan. PMID 16765467
    4. Plakophilin 1 but not plakophilin 3 regulates desmoglein clustering. Fuchs M, et al. Cell Mol Life Sci, 2019 Sep. PMID 30949721
    5. Antagonistic Regulation of Intercellular Cohesion by Plakophilins 1 and 3. Keil R, et al. J Invest Dermatol, 2016 Oct. PMID 27375112

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pkp1 regulates desmoglein membrane availability, whereas Pkp1 but not Pkp3 is required for desmoglein 3 clustering.
      Title: Plakophilin 1 but not plakophilin 3 regulates desmoglein clustering.
    2. PKP1 was identified as a new potential tumor suppressor in human melanoma.
      Title: Coexpression network analysis identified that plakophilin 1 is associated with the metastasis in human melanoma.
    3. PKP1 has roles in desmosome and tight junction function and in growth control, a function that is crucial in wound healing and epidermal carcinogenesis
      Title: Growth Retardation, Loss of Desmosomal Adhesion, and Impaired Tight Junction Function Identify a Unique Role of Plakophilin 1 In Vivo.
    4. This approach identified a key signaling event, phosphorylation of a desmosome component, PKP1 (plakophilin-1) by RIPK4 (receptor-interacting serine-threonine kinase 4) during epidermal differentiation.
      Title: Phosphorylation of Pkp1 by RIPK4 regulates epidermal differentiation and skin tumorigenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lamin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    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 gene expression 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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
    		  

    General protein information

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    Preferred Names
    plakophilin-1

    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_001313701.1 → NP_001300630.1  plakophilin-1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC162441, AK036856, BC139042, Y07941
      Consensus CDS
      CCDS15322.1
      UniProtKB/Swiss-Prot
      B2RSX3, P97350
      Related
      ENSMUSP00000128418.2, ENSMUST00000163260.8
      Conserved Domains (2) summary
      smart00185
      Location:277 → 317
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:240 → 273
      ARM; armadillo repeat [structural motif]

    2. NM_019645.3 → NP_062619.1  plakophilin-1

      See identical proteins and their annotated locations for NP_062619.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC162441, AK036856, AK079429, BC139042, Y07941
      Consensus CDS
      CCDS15322.1
      UniProtKB/Swiss-Prot
      B2RSX3, P97350
      Related
      ENSMUSP00000027667.7, ENSMUST00000027667.13
      Conserved Domains (2) summary
      smart00185
      Location:277 → 317
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:240 → 273
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      135799132..135846945 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P97350.1 GenPept UniProtKB/Swiss-Prot:P97350

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