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PKP4 plakophilin 4 [ Homo sapiens (human) ]

Gene ID: 8502, updated on 12-Aug-2018

Summary

Official Symbol
PKP4provided by HGNC
Official Full Name
plakophilin 4provided by HGNC
Primary source
HGNC:HGNC:9026
See related
Ensembl:ENSG00000144283 MIM:604276; Vega:OTTHUMG00000153969
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 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (158456880..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 heterogeneous nuclear ribonucleoprotein D-like 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 adhesion IEA
Inferred from Electronic Annotation
more info
 
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_001005476.2NP_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, BC034473, BC050308, BQ017486, DB473248, X81889
    Consensus CDS
    CCDS33306.1
    UniProtKB/Swiss-Prot
    Q99569
    Related
    ENSP00000374407.3, OTTHUMP00000204742, ENST00000389757.7, OTTHUMT00000333249
    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_001304969.1NP_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, BC034473, BC050308, BQ017486, DB473248, X81889
    UniProtKB/Swiss-Prot
    Q99569
    Related
    ENSP00000486320.1, ENST00000628904.2
    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_001304970.1NP_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, BC034473, BC048013, BC050308, BQ017486, DB473248, X81889
    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_003628.4NP_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, BC034473, BC050308, BQ017486, DB473248, X81889
    Consensus CDS
    CCDS33305.1
    UniProtKB/Swiss-Prot
    Q99569
    Related
    ENSP00000374409.3, OTTHUMP00000204743, ENST00000389759.7, OTTHUMT00000333250
    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.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    158456880..158681429
    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

    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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