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PKP1 plakophilin 1 [ Homo sapiens (human) ]

Gene ID: 5317, updated on 27-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
  • 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. A role for plakophilin-1 in the initiation of desmosome assembly. Wahl JK 3rd. J Cell Biochem, 2005 Oct 1. PMID 15988759
  2. Plakophilin 1 is methylated and has a tumor suppressive activity in human lung cancer. Haase D, et al. Exp Mol Pathol, 2019 Jun. PMID 30946843
  3. 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
  4. Aberrantly methylated PKP1 in the progression of Barrett's esophagus to esophageal adenocarcinoma. Kaz AM, et al. Genes Chromosomes Cancer, 2012 Apr. PMID 22170739, Free PMC Article
  5. The Prognostic Significance of Plakophilin-1 Expression in Esophageal Cancer. Fujita J, et al. Anticancer Res, 2021 Jul. PMID 34230135

See all (112) 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
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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)

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 membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 cytoplasmic stress granule IEA
Inferred from Electronic Annotation
more info
  
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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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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