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    PKP1 plakophilin 1 [ Homo sapiens (human) ]

    Gene ID: 5317, updated on 25-May-2017
    Official Symbol
    PKP1provided by HGNC
    Official Full Name
    plakophilin 1provided by HGNC
    Primary source
    HGNC:HGNC:9023
    See related
    Ensembl:ENSG00000081277 MIM:601975; Vega:OTTHUMG00000035729
    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
    B6P
    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 be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
    Orthologs
    Location:
    1q32.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (201283452..201332993)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201252580..201302121)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 9 Neighboring gene immunoglobulin-like and fibronectin type III domain containing 1 Neighboring gene uncharacterized LOC101929326 Neighboring gene troponin T2, cardiac type

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ectodermal dysplasia skin fragility syndrome
    MedGen: C1858302 OMIM: 604536 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of panic disorder in the Japanese population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated plakophilin 1 protein (PKP1) is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cell adhesion proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cell adhesion proteins, organism-specific biosystemApoptotic cells show dramatic rearrangements of tight junctions, adherens junctions, and desmosomes (Abreu et al., 2000). Desmosome-specific members of the cadherin superfamily of cell adhesion mole...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC138829

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    intermediate filament binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    structural constituent of epidermis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    intermediate filament bundle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    keratinization TAS
    Traceable Author Statement
    more info
     
    negative regulation of mRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    single organismal cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    desmosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    intermediate filament TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    messenger ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    plakophilin-1
    Names
    band 6 protein

    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_023337.1 RefSeqGene

      Range
      5001..54542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000299.3NP_000290.2  plakophilin-1 isoform 1b

      See identical proteins and their annotated locations for NP_000290.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1b) represents the longer transcript variant and encodes the longer protein (isoform 1b).
      Source sequence(s)
      AC119427, Z34974
      Consensus CDS
      CCDS30966.1
      UniProtKB/Swiss-Prot
      Q13835
      Related
      ENSP00000263946.3, ENST00000263946.7
      Conserved Domains (2) summary
      cd00020
      Location:238359
      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:239272
      ARM; armadillo repeat [structural motif]
    2. NM_001005337.2NP_001005337.1  plakophilin-1 isoform 1a

      See identical proteins and their annotated locations for NP_001005337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1a) represents the shorter transcript variant as compared to variant 1b. It encodes the shorter protein (isoform 1a), compared to isoform 1b.
      Source sequence(s)
      AC119427, Z34974
      Consensus CDS
      CCDS30967.1
      UniProtKB/Swiss-Prot
      Q13835
      UniProtKB/TrEMBL
      A0A024R952
      Related
      ENSP00000356293.3, OTTHUMP00000033848, ENST00000367324.7, OTTHUMT00000086894
      Conserved Domains (2) summary
      cd00020
      Location:238359
      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:239272
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      201283452..201332993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      202674744..202724331
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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