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PKP4 plakophilin 4 [ Homo sapiens (human) ]

Gene ID: 8502, updated on 5-Apr-2020

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
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

Genomic context

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See PKP4 in Genome Data Viewer
Location:
2q24.1
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (158456952..158681429)
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

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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 (75) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Protein p0071 has been localized as a plaque protein in adhaerens junctions of diverse epithelia and certain vascular endothelia.
    Title: Protein p0071, a major plaque protein of non-desmosomal adhering junctions, is a selective cell-type marker.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA 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
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
adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cell junction IDA
Inferred from Direct Assay
more info
  
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

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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/Swiss-Prot
    Q99569
    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/Swiss-Prot
    Q99569
    Conserved Domains (2) summary
    cd00020
    Location:521 → 643
    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:529 → 554
    ARM; armadillo repeat [structural motif]

  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

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

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070

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

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070

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

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070

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

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070

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

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070

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

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070

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

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070

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

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070

  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
    Q99569
    Related
    ENSP00000374409.3, ENST00000389759.7
    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]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

mRNA and Protein(s)

  1. XM_017005126.1 → XP_016860615.1  plakophilin-4 isoform X6

  2. XM_011512020.3 → XP_011510322.1  plakophilin-4 isoform X7

    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]

  3. XM_011512021.3 → XP_011510323.1  plakophilin-4 isoform X8

    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]

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

  5. XM_011512026.3 → XP_011510328.1  plakophilin-4 isoform X15

    Conserved Domains (3) 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, ...
    pfam13646
    Location:559 → 633
    HEAT_2; HEAT repeats
    sd00043
    Location:530 → 555
    ARM; armadillo repeat [structural motif]

  6. XM_017005127.2 → XP_016860616.1  plakophilin-4 isoform X8

    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]

  7. XM_017005124.2 → XP_016860613.1  plakophilin-4 isoform X4

    Conserved Domains (2) summary
    cd00020
    Location:519 → 641
    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:527 → 552
    ARM; armadillo repeat [structural motif]

  8. XM_017005134.2 → XP_016860623.1  plakophilin-4 isoform X16

  9. XM_017005133.2 → XP_016860622.1  plakophilin-4 isoform X16

  10. XM_011512022.2 → XP_011510324.1  plakophilin-4 isoform X10

    See identical proteins and their annotated locations for XP_011510324.1

    Conserved Domains (2) summary
    cd00020
    Location:374 → 496
    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:382 → 407
    ARM; armadillo repeat [structural motif]

  11. XM_017005130.2 → XP_016860619.1  plakophilin-4 isoform X11

  12. XM_017005129.2 → XP_016860618.1  plakophilin-4 isoform X10

    Conserved Domains (2) summary
    cd00020
    Location:374 → 496
    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:382 → 407
    ARM; armadillo repeat [structural motif]

  13. XM_017005123.1 → XP_016860612.1  plakophilin-4 isoform X2

    Conserved Domains (2) summary
    cd00020
    Location:521 → 643
    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:529 → 554
    ARM; armadillo repeat [structural motif]

  14. XM_024453184.1 → XP_024308952.1  plakophilin-4 isoform X14

    Conserved Domains (4) summary
    smart00185
    Location:523 → 558
    ARM; Armadillo/beta-catenin-like repeats
    pfam00514
    Location:217 → 256
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:188 → 213
    ARM; armadillo repeat [structural motif]
    cl27106
    Location:506 → 627
    PLN03200; cellulose synthase-interactive protein; Provisional

  15. XM_011512025.1 → XP_011510327.1  plakophilin-4 isoform X12

    See identical proteins and their annotated locations for XP_011510327.1

    Conserved Domains (2) summary
    cd00020
    Location:180 → 302
    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:188 → 213
    ARM; armadillo repeat [structural motif]

  16. XM_017005131.1 → XP_016860620.1  plakophilin-4 isoform X13

    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]

RNA

  1. XR_001739005.2 RNA Sequence

    Related
    ENST00000426248.7

  2. XR_001739004.2 RNA Sequence

  3. XR_001739006.2 RNA Sequence

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

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