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    PKP4 plakophilin 4 [ Homo sapiens (human) ]

    Gene ID: 8502, updated on 11-Sep-2019

    Summary

    Official Symbol
    PKP4provided by HGNC
    Official Full Name
    plakophilin 4provided by HGNC
    Primary source
    HGNC:HGNC:9026
    See related
    Ensembl:ENSG00000144283 MIM:604276
    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

    Genomic context

    See PKP4 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (158456880..158682890)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (159313476..159537941)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 148 Neighboring gene HNRNPDL pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 393, pseudogene Neighboring gene uncharacterized LOC105373715 Neighboring gene ribosomal protein L7a pseudogene 22 Neighboring gene uncharacterized LOC107985780 Neighboring gene PKP4 antisense RNA 1 Neighboring gene death associated protein like 1 Neighboring gene olfactory receptor family 7 subfamily E member 89 pseudogene

    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

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    HIV-1 interactions

    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

    Pathways from BioSystems

    • 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 ...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ31261, FLJ42243

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    plakophilin-4
    Names
    catenin 4

    NCBI Reference Sequences (RefSeq)

    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_001005476.3NP_001005476.1  plakophilin-4 isoform b

      See identical proteins and their annotated locations for NP_001005476.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC005042, AC008070
      Consensus CDS
      CCDS33306.1
      UniProtKB/Swiss-Prot
      Q99569
      Related
      ENSP00000374407.3, ENST00000389757.7
      Conserved Domains (2) summary
      cd00020
      Location:522644
      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:530555
      ARM; armadillo repeat [structural motif]
    2. NM_001304969.2NP_001291898.1  plakophilin-4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at an internal exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
      Source sequence(s)
      AC005042, AC008070
      UniProtKB/Swiss-Prot
      Q99569
      Conserved Domains (2) summary
      cd00020
      Location:521643
      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:529554
      ARM; armadillo repeat [structural motif]
    3. NM_001304970.2NP_001291899.1  plakophilin-4 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites at internal exons compared to variant 1. These differences result in predicted translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (d) is shorter compared to isoform 1.
      Source sequence(s)
      AC005042, AC008070
      UniProtKB/Swiss-Prot
      Q99569
      Conserved Domains (2) summary
      cd00020
      Location:179301
      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:187212
      ARM; armadillo repeat [structural motif]
    4. NM_001304971.1NP_001291900.1  plakophilin-4 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (e) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC005042, BC034473, DB473248
      Conserved Domains (2) summary
      cd00020
      Location:522644
      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:530555
      ARM; armadillo repeat [structural motif]
    5. NM_003628.5NP_003619.2  plakophilin-4 isoform a

      See identical proteins and their annotated locations for NP_003619.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC005042, AC008070
      Consensus CDS
      CCDS33305.1
      UniProtKB/Swiss-Prot
      Q99569
      Related
      ENSP00000374409.3, ENST00000389759.7
      Conserved Domains (2) summary
      cd00020
      Location:522644
      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:530555
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      158456880..158682890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512017.1XP_011510319.1  plakophilin-4 isoform X3

      See identical proteins and their annotated locations for XP_011510319.1

      Conserved Domains (2) summary
      cd00020
      Location:520642
      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:528553
      ARM; armadillo repeat [structural motif]
    2. XM_017005126.1XP_016860615.1  plakophilin-4 isoform X6

    3. XM_011512019.1XP_011510321.1  plakophilin-4 isoform X4

      Related
      ENSP00000486320.1, ENST00000628904.2
      Conserved Domains (2) summary
      cd00020
      Location:519641
      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:527552
      ARM; armadillo repeat [structural motif]
    4. XM_011512020.3XP_011510322.1  plakophilin-4 isoform X7

      Conserved Domains (2) summary
      cd00020
      Location:522644
      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:530555
      ARM; armadillo repeat [structural motif]
    5. XM_011512021.3XP_011510323.1  plakophilin-4 isoform X8

      Conserved Domains (2) summary
      cd00020
      Location:522644
      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:530555
      ARM; armadillo repeat [structural motif]
    6. XM_017005125.2XP_016860614.1  plakophilin-4 isoform X5

    7. XM_017005128.2XP_016860617.1  plakophilin-4 isoform X9

    8. XM_011512026.3XP_011510328.1  plakophilin-4 isoform X15

      Conserved Domains (3) summary
      cd00020
      Location:522644
      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, ...
      pfam13646
      Location:559633
      HEAT_2; HEAT repeats
      sd00043
      Location:530555
      ARM; armadillo repeat [structural motif]
    9. XM_011512016.2XP_011510318.1  plakophilin-4 isoform X1

      See identical proteins and their annotated locations for XP_011510318.1

      UniProtKB/Swiss-Prot
      Q99569
      Conserved Domains (2) summary
      cd00020
      Location:522644
      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:530555
      ARM; armadillo repeat [structural motif]
    10. XM_017005127.2XP_016860616.1  plakophilin-4 isoform X8

      Conserved Domains (2) summary
      cd00020
      Location:522644
      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:530555
      ARM; armadillo repeat [structural motif]
    11. XM_017005122.2XP_016860611.1  plakophilin-4 isoform X2

      Conserved Domains (2) summary
      cd00020
      Location:521643
      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:529554
      ARM; armadillo repeat [structural motif]
    12. XM_011512018.2XP_011510320.1  plakophilin-4 isoform X3

      See identical proteins and their annotated locations for XP_011510320.1

      Conserved Domains (2) summary
      cd00020
      Location:520642
      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:528553
      ARM; armadillo repeat [structural motif]
    13. XM_017005124.2XP_016860613.1  plakophilin-4 isoform X4

      Conserved Domains (2) summary
      cd00020
      Location:519641
      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:527552
      ARM; armadillo repeat [structural motif]
    14. XM_017005134.2XP_016860623.1  plakophilin-4 isoform X16

    15. XM_017005133.2XP_016860622.1  plakophilin-4 isoform X16

    16. XM_011512022.2XP_011510324.1  plakophilin-4 isoform X10

      See identical proteins and their annotated locations for XP_011510324.1

      Conserved Domains (2) summary
      cd00020
      Location:374496
      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:382407
      ARM; armadillo repeat [structural motif]
    17. XM_017005130.2XP_016860619.1  plakophilin-4 isoform X11

    18. XM_017005129.2XP_016860618.1  plakophilin-4 isoform X10

      Conserved Domains (2) summary
      cd00020
      Location:374496
      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:382407
      ARM; armadillo repeat [structural motif]
    19. XM_017005123.1XP_016860612.1  plakophilin-4 isoform X2

      Conserved Domains (2) summary
      cd00020
      Location:521643
      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:529554
      ARM; armadillo repeat [structural motif]
    20. XM_024453184.1XP_024308952.1  plakophilin-4 isoform X14

      Conserved Domains (4) summary
      smart00185
      Location:523558
      ARM; Armadillo/beta-catenin-like repeats
      pfam00514
      Location:217256
      Arm; Armadillo/beta-catenin-like repeat
      sd00043
      Location:188213
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:506627
      PLN03200; cellulose synthase-interactive protein; Provisional
    21. XM_011512025.1XP_011510327.1  plakophilin-4 isoform X12

      See identical proteins and their annotated locations for XP_011510327.1

      Conserved Domains (2) summary
      cd00020
      Location:180302
      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:188213
      ARM; armadillo repeat [structural motif]
    22. XM_017005131.1XP_016860620.1  plakophilin-4 isoform X13

      Conserved Domains (2) summary
      cd00020
      Location:179301
      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:187212
      ARM; armadillo repeat [structural motif]

    RNA

    1. XR_001739005.2 RNA Sequence

      Related
      ENST00000426248.7
    2. XR_001739004.2 RNA Sequence

    3. XR_001739006.2 RNA Sequence

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