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    Pkp3 plakophilin 3 [ Mus musculus (house mouse) ]

    Gene ID: 56460, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Pkp3provided by MGI
    Official Full Name
    plakophilin 3provided by MGI
    Primary source
    MGI:MGI:1891830
    See related
    Ensembl:ENSMUSG00000054065 AllianceGenome:MGI:1891830
    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
    Also known as
    2310056L12Rik
    Summary
    Predicted to enable alpha-catenin binding activity; cadherin binding activity; and enzyme binding activity. Predicted to be involved in several processes, including desmosome assembly; negative regulation of mRNA catabolic process; and protein localization to plasma membrane. Located in desmosome. Is expressed in skin. Orthologous to human PKP3 (plakophilin 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in small intestine adult (RPKM 54.7), colon adult (RPKM 49.3) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 F5; 7 86.34 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (140658202..140670424)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (141078229..141090511)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39114 Neighboring gene beta-1,4-N-acetyl-galactosaminyl transferase 4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:148258281-148258545 Neighboring gene single immunoglobulin and toll-interleukin 1 receptor (TIR) domain Neighboring gene STARR-positive B cell enhancer ABC_E2255 Neighboring gene anoctamin 9

    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. Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation. Sklyarova T, et al. J Invest Dermatol, 2008 Jun. PMID 18079750
    2. Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling. Müller L, et al. Cell Rep, 2023 Jan 31. PMID 36689330
    3. Plakophilin 1 but not plakophilin 3 regulates desmoglein clustering. Fuchs M, et al. Cell Mol Life Sci, 2019 Sep. PMID 30949721
    4. Antagonistic Regulation of Intercellular Cohesion by Plakophilins 1 and 3. Keil R, et al. J Invest Dermatol, 2016 Oct. PMID 27375112
    5. Hematopoietic plakophilin-3 regulates acute tissue-specific and systemic inflammation in mice. Sklyarova T, et al. Eur J Immunol, 2015 Oct. PMID 26173741

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling.
      Title: Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling.
    2. Plakophilin3 loss leads to increased adenoma formation and rectal prolapse in APC(min) mice.
      Title: Plakophilin3 loss leads to increased adenoma formation and rectal prolapse in APC(min) mice.
    3. Pkp3 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.
    4. data highlight a novel role for hematopoietic PKP3 in the regulation of both locally and systemically induced immune responses.
      Title: Hematopoietic plakophilin-3 regulates acute tissue-specific and systemic inflammation in mice.
    5. PKP3 gene down regulation is associated with bladder cancer invasion.
      Title: Up-regulation of plakophilin-2 and Down-regulation of plakophilin-3 are correlated with invasiveness in bladder cancer.
    6. PKP3 plays a critical role in morphogenesis of HFs and shafts and in limiting inflammatory responses in the skin
      Title: Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-catenin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cell adhesion molecule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme 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 desmosome 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 protein localization to plasma membrane 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
    		  
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell junction ISO
    Inferred from Sequence Orthology
    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
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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
    		  
    located_in spot adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    plakophilin-3

    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_001162924.2 → NP_001156396.1  plakophilin-3 isoform 2

      See identical proteins and their annotated locations for NP_001156396.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate exon for its 5' UTR and 5' coding region, compared to variant 1, that results in a protein (isoform 2) with a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC109272
      Consensus CDS
      CCDS52437.1
      UniProtKB/Swiss-Prot
      Q9QY23
      Related
      ENSMUSP00000101654.3, ENSMUST00000106039.9
      Conserved Domains (2) summary
      cd00020
      Location:346 → 457
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:346 → 371
      ARM; armadillo repeat [structural motif]

    2. NM_001415817.1 → NP_001402746.1  plakophilin-3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC109272

    3. NM_019762.2 → NP_062736.2  plakophilin-3 isoform 1

      See identical proteins and their annotated locations for NP_062736.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).
      Source sequence(s)
      AC109272, BC090668, BC139775
      Consensus CDS
      CCDS21999.1
      UniProtKB/Swiss-Prot
      A4QPD8, Q0VGP3, Q3KQL7, Q9QY23
      Related
      ENSMUSP00000069961.5, ENSMUST00000066873.5
      Conserved Domains (2) summary
      cd00020
      Location:321 → 432
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:321 → 346
      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_000073.7 Reference GRCm39 C57BL/6J

      Range
      140658202..140670424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017322376.1 → XP_017177865.1  plakophilin-3 isoform X1

      Conserved Domains (2) summary
      smart00185
      Location:272 → 312
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:243 → 268
      ARM; armadillo repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QY23.2 GenPept UniProtKB/Swiss-Prot:Q9QY23

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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