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Aliases for PKP4 Gene

Aliases for PKP4 Gene

  • Plakophilin 4 2 3
  • P0071 3 4
  • Plakophilin-4 3
  • Catenin 4 3

External Ids for PKP4 Gene

Summaries for PKP4 Gene

Entrez Gene Summary for PKP4 Gene

  • 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]

GeneCards Summary for PKP4 Gene

PKP4 (Plakophilin 4) is a Protein Coding gene. Among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms. An important paralog of this gene is PKP3.

UniProtKB/Swiss-Prot for PKP4 Gene

  • Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques.

Gene Wiki entry for PKP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKP4 Gene

Genomics for PKP4 Gene

Genomic Location for PKP4 Gene

Start:
158,456,964 bp from pter
End:
158,682,879 bp from pter
Size:
225,916 bases
Orientation:
Plus strand

Genomic View for PKP4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PKP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKP4 Gene

Regulatory Elements for PKP4 Gene

Proteins for PKP4 Gene

  • Protein details for PKP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99569-PKP4_HUMAN
    Recommended name:
    Plakophilin-4
    Protein Accession:
    Q99569
    Secondary Accessions:
    • Q86W91

    Protein attributes for PKP4 Gene

    Size:
    1192 amino acids
    Molecular mass:
    131868 Da
    Quaternary structure:
    • Interacts with PDZD2 (By similarity). Interacts (via the C-terminus) with FRMPD2 (via the PDZ 2 domain). Interacts with RHOA; the interaction is detected at the midbody. Interacts with ECT2; the interaction is detected at the midbody.
    SequenceCaution:
    • Sequence=CAA57478.1; Type=Erroneous termination; Positions=1193; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=CAA57478.1; Type=Frameshift; Positions=334, 337, 864, 874; Evidence={ECO:0000305};

    Alternative splice isoforms for PKP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKP4 Gene

Proteomics data for PKP4 Gene at MOPED

Post-translational modifications for PKP4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys518, Lys573, Lys611, Lys683, and Lys1175

No data available for DME Specific Peptides for PKP4 Gene

Domains for PKP4 Gene

Gene Families for PKP4 Gene

HGNC:
  • ARMC :Armadillo repeat containing

Protein Domains for PKP4 Gene

UniProtKB/Swiss-Prot:

PKP4_HUMAN
Family:
  • Belongs to the beta-catenin family.:
    • Q99569
Similarity:
  • Contains 9 ARM repeats.:
    • Q99569
genes like me logo Genes that share domains with PKP4: view

Function for PKP4 Gene

Molecular function for PKP4 Gene

UniProtKB/Swiss-Prot Function: Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques.

Gene Ontology (GO) - Molecular Function for PKP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 12047349
genes like me logo Genes that share ontologies with PKP4: view

Phenotypes for PKP4 Gene

MGI mutant phenotypes for PKP4:
inferred from 1 alleles
GenomeRNAi human phenotypes for PKP4:
genes like me logo Genes that share phenotypes with PKP4: view

miRNA for PKP4 Gene

miRTarBase miRNAs that target PKP4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PKP4 Gene

Localization for PKP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKP4 Gene

Cell junction, desmosome. Cytoplasm, cytoskeleton, spindle. Midbody. Cell membrane; Peripheral membrane protein. Note=Associated with the pericentrosomal region in interphase and with spindle poles during mitosis. In anaphase, during chromosome segregation, is recruited to the central microtubule bundle, focussed at the spindle midzone and ultimately localizes to the midbody at cytokinesis. Constituent of the midbody cytoskeletal matrix. Colocalized with desmoplakin at desmosomal junctional plaques in cultured epithelial cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PKP4 Gene COMPARTMENTS Subcellular localization image for PKP4 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for PKP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 17115030
GO:0005737 cytoplasm IDA 22965878
GO:0005856 cytoskeleton IDA 8937994
GO:0005886 plasma membrane IDA 8937994
GO:0005911 cell-cell junction IDA 8937994
genes like me logo Genes that share ontologies with PKP4: view

Pathways for PKP4 Gene

genes like me logo Genes that share pathways with PKP4: view

Pathways by source for PKP4 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for PKP4 Gene

Gene Ontology (GO) - Biological Process for PKP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007043 cell-cell junction assembly ISS --
GO:0007267 cell-cell signaling NAS 8937994
GO:0016337 single organismal cell-cell adhesion IEA --
GO:0030155 regulation of cell adhesion NAS 8937994
GO:0032467 positive regulation of cytokinesis IMP 17115030
genes like me logo Genes that share ontologies with PKP4: view

Transcripts for PKP4 Gene

Unigene Clusters for PKP4 Gene

Plakophilin 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PKP4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ·
SP1: - - -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: - - -
SP9: - - -
SP10:
SP11: -

ExUns: 15d ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4: - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10: - - -
SP11:

Relevant External Links for PKP4 Gene

GeneLoc Exon Structure for
PKP4
ECgene alternative splicing isoforms for
PKP4

Expression for PKP4 Gene

mRNA expression in normal human tissues for PKP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKP4 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (10.2) and Brain - Substantia nigra (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PKP4 Gene

SOURCE GeneReport for Unigene cluster for PKP4 Gene Hs.407580

genes like me logo Genes that share expressions with PKP4: view

Orthologs for PKP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKP4 36
  • 99.58 (n)
  • 99.75 (a)
PKP4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PKP4 36
  • 94.16 (n)
  • 97.82 (a)
PKP4 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKP4 36
  • 94.38 (n)
  • 98.32 (a)
PKP4 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkp4 36
  • 91.48 (n)
  • 96.64 (a)
Pkp4 16
Pkp4 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PKP4 37
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKP4 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkp4 36
  • 91.6 (n)
  • 96.64 (a)
chicken
(Gallus gallus)
Aves PKP4 36
  • 80.31 (n)
  • 89.81 (a)
PKP4 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKP4 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398570 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pkp4 36
  • 75.05 (n)
  • 82.97 (a)
zebrafish
(Danio rerio)
Actinopterygii pkp4 36
  • 62.75 (n)
  • 66.64 (a)
pkp4 37
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 37
  • 38 (a)
OneToMany
p120ctn 38
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea jac-1 37
  • 22 (a)
OneToMany
jac-1 38
  • 34 (a)
Species with no ortholog for PKP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PKP4 Gene

ENSEMBL:
Gene Tree for PKP4 (if available)
TreeFam:
Gene Tree for PKP4 (if available)

Paralogs for PKP4 Gene

Paralogs for PKP4 Gene

Pseudogenes.org Pseudogenes for PKP4 Gene

genes like me logo Genes that share paralogs with PKP4: view

Variants for PKP4 Gene

Sequence variations from dbSNP and Humsavar for PKP4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs8272 -- 158,658,300(+) AACAC(A/G)ACAGG synonymous-codon, reference
rs9459 -- 158,661,345(+) AGCTC(C/T)GCGGG reference, synonymous-codon
rs719931 -- 158,586,425(+) GTAAT(G/T)ATTTA intron-variant
rs719932 -- 158,586,610(+) TCTTA(C/T)GAGCA intron-variant
rs723092 -- 158,588,789(-) AAAAT(A/G)TGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKP4 Gene

Variant ID Type Subtype PubMed ID
nsv875329 CNV Loss 21882294
nsv459885 CNV Loss 19166990
esv259726 OTHER Complex 20981092
nsv834434 CNV Gain 17160897
nsv875330 CNV Loss 21882294
esv21462 CNV Gain 19812545
dgv4349n71 CNV Loss 21882294

Relevant External Links for PKP4 Gene

HapMap Linkage Disequilibrium report
PKP4

Disorders for PKP4 Gene

Relevant External Links for PKP4

Genetic Association Database (GAD)
PKP4
Human Genome Epidemiology (HuGE) Navigator
PKP4
genes like me logo Genes that share disorders with PKP4: view

No data available for UniProtKB/Swiss-Prot for PKP4 Gene

Publications for PKP4 Gene

  1. Cloning and characterization of a new armadillo family member, p0071, associated with the junctional plaque: evidence for a subfamily of closely related proteins. (PMID: 8937994) Hatzfeld M. … Nachtsheim C. (J. Cell Sci. 1996) 2 3 4 23
  2. Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family. (PMID: 9342840) Paffenholz R. … Franke W.W. (Differentiation 1997) 2 3 23
  3. Protein p0071, an armadillo plaque protein of adherens junctions, is predominantly expressed in distal renal tubules. (PMID: 19830446) Walter B. … Hofmann I. (Histochem. Cell Biol. 2010) 3 23
  4. Presenilins interact with armadillo proteins including neural- specific plakophilin-related protein and beta-catenin. (PMID: 10037471) Levesque G. … St George-Hyslop P.H. (J. Neurochem. 1999) 3 23
  5. p0071, a member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle. (PMID: 11206135) SchrAPder R. … Hatzfeld M. (J. Muscle Res. Cell. Motil. 2000) 3 23

Products for PKP4 Gene

Sources for PKP4 Gene

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