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    PKP4 plakophilin 4 [ Homo sapiens (human) ]

    Gene ID: 8502, updated on 5-Mar-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    2q24.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (158456952..158681429)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (158913757..159138252)
    105.20220307 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

    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ31261, FLJ42243

    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

    Preferred Names
    plakophilin-4
    Names
    catenin 4

    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.

    mRNA and Protein(s)

    1. NM_001005476.4NP_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: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_001304969.3NP_001291898.1  plakophilin-4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72383
      Atrophin-1; Atrophin-1 family
    3. NM_001304970.3NP_001291899.1  plakophilin-4 isoform d

      Status: REVIEWED

      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_001304971.2NP_001291900.1  plakophilin-4 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      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_001377218.1NP_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_001377219.1NP_001364148.1  plakophilin-4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72383
      Atrophin-1; Atrophin-1 family
    7. NM_001377220.1NP_001364149.1  plakophilin-4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72383
      Atrophin-1; Atrophin-1 family
    8. NM_001377221.1NP_001364150.1  plakophilin-4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72383
      Atrophin-1; Atrophin-1 family
    9. NM_001377222.1NP_001364151.1  plakophilin-4 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:601642
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:846967
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:528553
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:557596
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72381
      Atrophin-1; Atrophin-1 family
    10. NM_001377223.1NP_001364152.1  plakophilin-4 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:601642
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:846967
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:528553
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:557596
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72381
      Atrophin-1; Atrophin-1 family
    11. NM_001377224.1NP_001364153.1  plakophilin-4 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:600641
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:845966
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:527552
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:556595
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72381
      Atrophin-1; Atrophin-1 family
    12. NM_001377225.1NP_001364154.1  plakophilin-4 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      Consensus CDS
      CCDS33306.1
      UniProtKB/TrEMBL
      Q4W5T8
    13. NM_001377226.1NP_001364155.1  plakophilin-4 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC005042, AC008070
      UniProtKB/TrEMBL
      Q4W5T8
      Conserved Domains (5) summary
      smart00185
      Location:864899
      ARM; Armadillo/beta-catenin-like repeats
      PLN03200
      Location:847968
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00043
      Location:529554
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:558597
      Arm; Armadillo/beta-catenin-like repeat
      pfam03154
      Location:72383
      Atrophin-1; Atrophin-1 family
    14. NM_003628.6NP_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: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: 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_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)