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    PKP3 plakophilin 3 [ Homo sapiens (human) ]

    Gene ID: 11187, updated on 23-Nov-2021

    Summary

    Official Symbol
    PKP3provided by HGNC
    Official Full Name
    plakophilin 3provided by HGNC
    Primary source
    HGNC:HGNC:9025
    See related
    Ensembl:ENSG00000184363 MIM:605561
    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
    Summary
    This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
    Expression
    Biased expression in skin (RPKM 51.4), esophagus (RPKM 46.7) and 11 other tissues See more
    Orthologs
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    Genomic context

    See PKP3 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (392596..404908)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (392596..404908)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr11.30 Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 4 Neighboring gene single Ig and TIR domain containing Neighboring gene anoctamin 9 Neighboring gene uncharacterized LOC105376506 Neighboring gene RNA, 7SL, cytoplasmic 838, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables alpha-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cadherin binding involved in cell-cell adhesion HDA PubMed 
    enables cell adhesion molecule binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables translation regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in desmosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction HDA PubMed 
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cell-cell junction TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in desmosome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of messenger ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    plakophilin-3
    Names
    plakophilin 3b

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001303029.2NP_001289958.1  plakophilin-3 isoform PKP3b

      See identical proteins and their annotated locations for NP_001289958.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (PKP3b).
      Source sequence(s)
      AC138230, AK025067, BC000081, CA947983, FN421477
      UniProtKB/Swiss-Prot
      Q9Y446
      Conserved Domains (2) summary
      cd00020
      Location:336447
      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:336361
      ARM; armadillo repeat [structural motif]
    2. NM_007183.4NP_009114.1  plakophilin-3 isoform PKP3a

      See identical proteins and their annotated locations for NP_009114.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate 5' exon structure and differs in the 5' UTR and coding region, compared to variant 2. The resulting isoform (PKP3a) has a shorter and distinct N-terminus compared to isoform PKP3b.
      Source sequence(s)
      AK025067, BC000081, CA947983, DB139782, FN421477
      Consensus CDS
      CCDS7695.1
      UniProtKB/Swiss-Prot
      Q9Y446
      Related
      ENSP00000331678.2, ENST00000331563.7
      Conserved Domains (2) summary
      smart00185
      Location:350390
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:321346
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      392596..404908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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