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    PKP1 plakophilin 1 [ Homo sapiens (human) ]

    Gene ID: 5317, updated on 3-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See PKP1 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201283506..201332989)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200541289..200590813)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Plakophilin-1 protects keratinocytes from pemphigus vulgaris IgG by forming calcium-independent desmosomes. Tucker DK, et al. J Invest Dermatol, 2014 Apr. PMID 24056861, Free PMC Article
    2. The Prognostic Significance of Plakophilin-1 Expression in Esophageal Cancer. Fujita J, et al. Anticancer Res, 2021 Jul. PMID 34230135
    3. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Hamada T, et al. Exp Dermatol, 2002 Apr. PMID 11994137
    4. Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. McMillan JR, et al. J Invest Dermatol, 2003 Jul. PMID 12839569
    5. Ectodermal dysplasia-skin fragility syndrome. McGrath JA, et al. Dermatol Clin, 2010 Jan. PMID 19945625

    See all (109) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unveiling the Binding between the Armadillo-Repeat Domain of Plakophilin 1 and the Intrinsically Disordered Transcriptional Repressor RYBP.
      Title: Unveiling the Binding between the Armadillo-Repeat Domain of Plakophilin 1 and the Intrinsically Disordered Transcriptional Repressor RYBP.
    2. The role of PKP1 in tumor progression in melanoma: Analysis of a cell adhesion-related model.
      Title: The role of PKP1 in tumor progression in melanoma: Analysis of a cell adhesion-related model.
    3. Elucidation of the inhibitory potential of flavonoids against PKP1 protein in non-small cell lung cancer.
      Title: Elucidation of the inhibitory potential of flavonoids against PKP1 protein in non-small cell lung cancer.
    4. Plakophilin 1 deficiency in prostatic tumours is correlated with immune cell recruitment and controls the up-regulation of cytokine expression post-transcriptionally.
      Title: Plakophilin 1 deficiency in prostatic tumours is correlated with immune cell recruitment and controls the up-regulation of cytokine expression post-transcriptionally.
    5. The armadillo-repeat domain of Plakophilin 1 binds to human enzyme PADI4.
      Title: The armadillo-repeat domain of Plakophilin 1 binds to human enzyme PADI4.
    6. PKP1 and MYC create a feedforward loop linking transcription and translation in squamous cell lung cancer.
      Title: PKP1 and MYC create a feedforward loop linking transcription and translation in squamous cell lung cancer.
    7. The Prognostic Significance of Plakophilin-1 Expression in Esophageal Cancer.
      Title: The Prognostic Significance of Plakophilin-1 Expression in Esophageal Cancer.
    8. Intrinsically disordered protein NUPR1 binds to the armadillo-repeat domain of Plakophilin 1.
      Title: Intrinsically disordered protein NUPR1 binds to the armadillo-repeat domain of Plakophilin 1.
    9. LncRNA APPAT regulated miR-328a/Pkp1 signal pathway to participate in breast cancer.
      Title: LncRNA APPAT regulated miR-328a/Pkp1 signal pathway to participate in breast cancer.
    10. In advanced primary lung tumor samples, higher expression of plakophilin 1 (PKP1) was significantly associated with favorable clinical outcome.
      Title: Plakophilin 1 is methylated and has a tumor suppressive activity in human lung cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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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

    Clone Names

    • MGC138829

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ameloblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 desmosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in desmosome maintenance IEA
    Inferred from Electronic Annotation
    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 cap-dependent translational initiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of keratinocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in transepithelial water transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 nuclear stress granule 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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    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
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    plakophilin-1
    Names
    band 6 protein

    NCBI Reference Sequences (RefSeq)

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    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_000299.4 → NP_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:238 → 359
      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:239 → 272
      ARM; armadillo repeat [structural motif]

    2. NM_001005337.3 → NP_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:276 → 316
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:239 → 272
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13835.2 GenPept UniProtKB/Swiss-Prot:Q13835

    Gene LinkOut

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

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