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    PKP4 plakophilin 4 [ Homo sapiens (human) ]

    Gene ID: 8502, updated on 26-Nov-2024

    Summary

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    Official Symbol
    PKP4provided by HGNC
    Official Full Name
    plakophilin 4provided by HGNC
    Primary source
    HGNC:HGNC:9026
    See related
    Ensembl:ENSG00000144283 MIM:604276; AllianceGenome:HGNC:9026
    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
    p0071
    Summary
    Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
    Expression
    Ubiquitous expression in kidney (RPKM 22.9), thyroid (RPKM 17.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PKP4 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (158456952..158681429)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (158913757..159138252)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (159313464..159537941)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 148 Neighboring gene HNRNPDL pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 156 Neighboring gene uncharacterized LOC124907900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16680 Neighboring gene RNA, 7SL, cytoplasmic 393, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8835 Neighboring gene NANOG hESC enhancer GRCh37_chr2:159353481-159353982 Neighboring gene uncharacterized LOC105373715 Neighboring gene ribosomal protein L7a pseudogene 22 Neighboring gene Sharpr-MPRA regulatory region 6347 Neighboring gene PKP4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159579921-159580426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159581263-159581762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159601320-159601820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159601821-159602321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159639703-159640202 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53410 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53422 Neighboring gene uncharacterized LOC124907901 Neighboring gene death associated protein like 1 Neighboring gene olfactory receptor family 7 subfamily E member 89 pseudogene

    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. Comparative analysis of armadillo family proteins in the regulation of a431 epithelial cell junction assembly, adhesion and migration. Setzer SV, et al. J Invest Dermatol, 2004 Sep. PMID 15304078
    2. Protein p0071, an armadillo plaque protein of adherens junctions, is predominantly expressed in distal renal tubules. Walter B, et al. Histochem Cell Biol, 2010 Jan. PMID 19830446
    3. p0071, a member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle. Schröder R, et al. J Muscle Res Cell Motil, 2000. PMID 11206135
    4. p0071/PKP4, a multifunctional protein coordinating cell adhesion with cytoskeletal organization. Keil R, et al. Biol Chem, 2013 Aug. PMID 23640939
    5. Protein p0071, a major plaque protein of non-desmosomal adhering junctions, is a selective cell-type marker. Hofmann I, et al. Cell Tissue Res, 2008 Dec. PMID 19005682

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the Kir2.1-Regulated Inward Rectifier Potassium Currents.
      Title: Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the Kir2.1-Regulated Inward Rectifier Potassium Currents.
    2. p0071 is required for directional vesicle movement and secretion of different KIF3-transported carriers, thereby regulating the transport of intracellular membrane vesicles along microtubules.
      Title: The armadillo protein p0071 controls KIF3 motor transport.
    3. Data show that patients with both abnormal expression of p0071 and E-cadherin had a statistically significant shorter survival than the patients without both abnormal expression.
      Title: p0071 interacts with E-cadherin in the cytoplasm so as to promote the invasion and metastasis of non-small cell lung cancer.
    4. p0071 has a key role in regulating recycling through the Rab11a-dependent perinuclear recycling compartment.
      Title: The armadillo protein p0071 is involved in Rab11-dependent recycling.
    5. This review article focuses on the functions of the p0071 protein and its closest relatives in regulating cell adhesion and cytoskeletal organization, which are critically involved in the control of cell polarity. [review]
      Title: p0071/PKP4, a multifunctional protein coordinating cell adhesion with cytoskeletal organization.
    6. Findings suggest that aspects of folliculin tumour suppressor function are linked to interaction with p0071 and the regulation of RhoA signalling.
      Title: Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.
    7. These data support a model in which dysregulation of the FLCN-p0071 interaction leads to alterations in cell adhesion, cell polarity, and RhoA signaling.
      Title: Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. The structural and functional roles of p0071 are suggested by its preferential occurrence in distinct tubule segments, and its potential use as a cytodiagnostic cell type marker in renal pathology is discussed.
      Title: Protein p0071, an armadillo plaque protein of adherens junctions, is predominantly expressed in distal renal tubules.
    10. Data indicate that p0071 and Ect2 are transported via distinct motors and identify a novel pathway implicating KIF3 in the regulation of actin organization during cytokinesis.
      Title: Targeting of p0071 to the midbody depends on KIF3.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic 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
    integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that PKP4 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with PKP4 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell-cell signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell adhesion 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 cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    colocalizes_with cell-cell contact zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    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
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle midzone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    plakophilin-4
    Names
    catenin 4

    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.

    mRNA and Protein(s)

    1. NM_001005476.4 → NP_001005476.1  plakophilin-4 isoform b

      See identical proteins and their annotated locations for NP_001005476.1

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      Consensus CDS
      CCDS33306.1
      UniProtKB/TrEMBL
      Q4W5T8
      Related
      ENSP00000374407.3, ENST00000389757.7
      Conserved Domains (2) summary
      cd00020
      Location:522 → 644
      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:530 → 555
      ARM; armadillo repeat [structural motif]

    2. NM_001304969.3 → NP_001291898.1  plakophilin-4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864 → 899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847 → 968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529 → 554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558 → 597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72 → 383
      Atrophin-1; Atrophin-1 family

    3. NM_001304970.3 → NP_001291899.1  plakophilin-4 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/Swiss-Prot
      Q99569
      Conserved Domains (2) summary
      cd00020
      Location:179 → 301
      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:187 → 212
      ARM; armadillo repeat [structural motif]

    4. NM_001304971.2 → NP_001291900.1  plakophilin-4 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      Conserved Domains (2) summary
      cd00020
      Location:522 → 644
      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:530 → 555
      ARM; armadillo repeat [structural motif]

    5. NM_001377218.1 → NP_001364147.1  plakophilin-4 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      Consensus CDS
      CCDS33305.1
      UniProtKB/Swiss-Prot
      Q86W91, Q99569
      UniProtKB/TrEMBL
      Q4W5T8

    6. NM_001377219.1 → NP_001364148.1  plakophilin-4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864 → 899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847 → 968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529 → 554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558 → 597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72 → 383
      Atrophin-1; Atrophin-1 family

    7. NM_001377220.1 → NP_001364149.1  plakophilin-4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864 → 899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847 → 968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529 → 554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558 → 597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72 → 383
      Atrophin-1; Atrophin-1 family

    8. NM_001377221.1 → NP_001364150.1  plakophilin-4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864 → 899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847 → 968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529 → 554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558 → 597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72 → 383
      Atrophin-1; Atrophin-1 family

    9. NM_001377222.1 → NP_001364151.1  plakophilin-4 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:601 → 642
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:846 → 967
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:528 → 553
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:557 → 596
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72 → 381
      Atrophin-1; Atrophin-1 family

    10. NM_001377223.1 → NP_001364152.1  plakophilin-4 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:601 → 642
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:846 → 967
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:528 → 553
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:557 → 596
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72 → 381
      Atrophin-1; Atrophin-1 family

    11. NM_001377224.1 → NP_001364153.1  plakophilin-4 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:600 → 641
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:845 → 966
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:527 → 552
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:556 → 595
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72 → 381
      Atrophin-1; Atrophin-1 family

    12. NM_001377225.1 → NP_001364154.1  plakophilin-4 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      Consensus CDS
      CCDS33306.1
      UniProtKB/TrEMBL
      Q4W5T8

    13. NM_001377226.1 → NP_001364155.1  plakophilin-4 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864 → 899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847 → 968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529 → 554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558 → 597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72 → 383
      Atrophin-1; Atrophin-1 family

    14. NM_003628.6 → NP_003619.2  plakophilin-4 isoform a

      See identical proteins and their annotated locations for NP_003619.2

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      Consensus CDS
      CCDS33305.1
      UniProtKB/Swiss-Prot
      Q86W91, Q99569
      UniProtKB/TrEMBL
      Q4W5T8
      Related
      ENSP00000374409.3, ENST00000389759.8
      Conserved Domains (2) summary
      cd00020
      Location:522 → 644
      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:530 → 555
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      158456952..158681429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      158913757..159138252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99569.2 GenPept UniProtKB/Swiss-Prot:Q99569

    Gene LinkOut

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

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