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PKP4 plakophilin 4 [ Homo sapiens (human) ]

Gene ID: 8502, updated on 23-Nov-2023

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
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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_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

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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. p0071/PKP4, a multifunctional protein coordinating cell adhesion with cytoskeletal organization. Keil R, et al. Biol Chem, 2013 Aug. PMID 23640939
  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. 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
  4. 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
  5. 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

See all (98) 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)

Genotypes

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

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

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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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99569.2 GenPept UniProtKB/Swiss-Prot:Q99569

Gene LinkOut

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