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PKP4 plakophilin 4 [ Homo sapiens (human) ]

Gene ID: 8502, updated on 6-Nov-2022

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
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Genomic context

See PKP4 in Genome Data Viewer
Location:
2q24.1
Exon count:
25
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (158456952..158681429)
110 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 Sharpr-MPRA regulatory region 156 Neighboring gene uncharacterized LOC124907900 Neighboring gene RNA, 7SL, cytoplasmic 393, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8835 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 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

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
PubMed 
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
PubMed 
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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/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_001304969.3NP_001291898.1  plakophilin-4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070
    UniProtKB/Swiss-Prot
    Q99569
    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
  6. NM_001377219.1NP_001364148.1  plakophilin-4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070
    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
    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
    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
    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
    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
    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
  13. NM_001377226.1NP_001364155.1  plakophilin-4 isoform h

    Status: REVIEWED

    Source sequence(s)
    AC005042, AC008070
    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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)