U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    PKP1 plakophilin 1 [ Homo sapiens (human) ]

    Gene ID: 5317, updated on 11-Apr-2024

    Summary

    Official Symbol
    PKP1provided by HGNC
    Official Full Name
    plakophilin 1provided by HGNC
    Primary source
    HGNC:HGNC:9023
    See related
    Ensembl:ENSG00000081277 MIM:601975; AllianceGenome:HGNC:9023
    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; EDSFS
    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]
    Expression
    Biased expression in skin (RPKM 358.6) and esophagus (RPKM 152.0) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1q32.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201283506..201332989)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200541289..200590813)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201252634..201302117)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1687 Neighboring gene transmembrane protein 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2310 Neighboring gene immunoglobulin like and fibronectin type III domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201194684-201195676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201252475-201253004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201271917-201272422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201290713-201291214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201315623-201316123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201316234-201317218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201322652-201323191 Neighboring gene uncharacterized LOC101929326 Neighboring gene skeletal muscle cis-regulatory module in TNNT2 intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201346239-201346776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201346777-201347314 Neighboring gene troponin T2, cardiac type

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Epidermolysis bullosa simplex due to plakophilin deficiency
    MedGen: C1858302 OMIM: 604536 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of panic disorder in the Japanese population.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138829

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables intermediate filament binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables lamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of skin epidermis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament bundle assembly IDA
    Inferred from Direct Assay
    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 signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in desmosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in intermediate filament TAS
    Traceable Author Statement
    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
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    plakophilin-1
    Names
    band 6 protein

    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.

    Genomic

    1. NG_023337.2 RefSeqGene

      Range
      5002..54485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000299.4NP_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, KF459531
      Consensus CDS
      CCDS30966.1
      UniProtKB/Swiss-Prot
      O00645, Q13835, Q14CA0, Q15152
      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_001005337.3NP_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, KF459531
      Consensus CDS
      CCDS30967.1
      Related
      ENSP00000356293.4, ENST00000367324.8
      Conserved Domains (2) summary
      smart00185
      Location:276316
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:239272
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      201283506..201332989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      200541289..200590813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)