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Plakophilin-4

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(Redirected from PKP4) Protein-coding gene in the species Homo sapiens
PKP4
Identifiers
AliasesPKP4, p0071, plakophilin 4
External IDsOMIM: 604276; MGI: 109281; HomoloGene: 2689; GeneCards: PKP4; OMA:PKP4 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)
Chromosome 2 (human)Genomic location for PKP4Genomic location for PKP4
Band2q24.1Start158,456,952 bp
End158,682,879 bp
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)
Chromosome 2 (mouse)Genomic location for PKP4Genomic location for PKP4
Band2|2 C1.1Start59,160,850 bp
End59,355,208 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • C1 segment

  • inferior ganglion of vagus nerve

  • internal globus pallidus

  • corpus callosum

  • pars reticulata

  • subthalamic nucleus

  • caput epididymis

  • Amygdala

  • putamen

  • middle frontal gyrus
Top expressed in
  • ciliary body

  • iris

  • substantia nigra

  • Region I of hippocampus proper

  • tunica media of zone of aorta

  • deep cerebellar nuclei

  • ascending aorta

  • motor neuron

  • Amygdala

  • submandibular gland
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8502

227937

Ensembl

ENSG00000144283

ENSMUSG00000026991

UniProt

Q99569

Q68FH0

RefSeq (mRNA)
NM_001005476
NM_001304969
NM_001304970
NM_001304971
NM_003628

NM_001377218
NM_001377219
NM_001377220
NM_001377221
NM_001377222
NM_001377223
NM_001377224
NM_001377225
NM_001377226

NM_026361
NM_175464
NM_001362990
NM_001362991
NM_001362992

NM_001362993
NM_001362994
NM_001362995
NM_001362996
NM_001362997
NM_001362998
NM_001362999

RefSeq (protein)
NP_001005476
NP_001291898
NP_001291899
NP_001291900
NP_003619

NP_001364147
NP_001364148
NP_001364149
NP_001364150
NP_001364151
NP_001364152
NP_001364153
NP_001364154
NP_001364155

NP_080637
NP_780673
NP_001349919
NP_001349920
NP_001349921

NP_001349922
NP_001349923
NP_001349924
NP_001349925
NP_001349926
NP_001349927
NP_001349928

Location (UCSC)Chr 2: 158.46 – 158.68 MbChr 2: 59.16 – 59.36 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Plakophilin-4 is a protein that in humans is encoded by the PKP4 gene.

Function

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 have been found for this gene, but the full-length nature of only two of them have been described so far. These two variants encode distinct isoforms.

Interactions

PKP4 has been shown to interact with:

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000144283Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000026991Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Paffenholz R, Franke WW (December 1997). "Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family". Differentiation. 61 (5): 293–304. doi:10.1046/j.1432-0436.1997.6150293.x. PMID 9342840.
  6. Hatzfeld M, Nachtsheim C (May 1997). "Cloning and characterization of a new armadillo family member, p0071, associated with the junctional plaque: evidence for a subfamily of closely related proteins". J Cell Sci. 109 (11): 2767–78. doi:10.1242/jcs.109.11.2767. PMID 8937994.
  7. ^ "Entrez Gene: PKP4 plakophilin 4".
  8. Izawa I, Nishizawa M, Tomono Y, Ohtakara K, Takahashi T, Inagaki M (May 2002). "ERBIN associates with p0071, an armadillo protein, at cell-cell junctions of epithelial cells". Genes Cells. 7 (5): 475–85. doi:10.1046/j.1365-2443.2002.00533.x. PMID 12047349. S2CID 12598418.
  9. Jaulin-Bastard F, Arsanto JP, Le Bivic A, Navarro C, Vély F, Saito H, Marchetto S, Hatzfeld M, Santoni MJ, Birnbaum D, Borg JP (January 2002). "Interaction between Erbin and a Catenin-related protein in epithelial cells". J. Biol. Chem. 277 (4): 2869–75. doi:10.1074/jbc.M109652200. PMID 11711544.
  10. Laura RP, Witt AS, Held HA, Gerstner R, Deshayes K, Koehler MF, Kosik KS, Sidhu SS, Lasky LA (April 2002). "The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF". J. Biol. Chem. 277 (15): 12906–14. doi:10.1074/jbc.M200818200. PMID 11821434.
  11. Deguchi M, Iizuka T, Hata Y, Nishimura W, Hirao K, Yao I, Kawabe H, Takai Y (September 2000). "PAPIN. A novel multiple PSD-95/Dlg-A/ZO-1 protein interacting with neural plakophilin-related armadillo repeat protein/delta-catenin and p0071". J. Biol. Chem. 275 (38): 29875–80. doi:10.1074/jbc.M005384200. PMID 10896674.
  12. Ohno H, Hirabayashi S, Iizuka T, Ohnishi H, Fujita T, Hata Y (October 2002). "Localization of p0071-interacting proteins, plakophilin-related armadillo-repeat protein-interacting protein (PAPIN) and ERBIN, in epithelial cells". Oncogene. 21 (46): 7042–9. doi:10.1038/sj.onc.1205852. PMID 12370826.
  13. Stahl B, Diehlmann A, Südhof TC (April 1999). "Direct interaction of Alzheimer's disease-related presenilin 1 with armadillo protein p0071". J. Biol. Chem. 274 (14): 9141–8. doi:10.1074/jbc.274.14.9141. PMID 10092585.

Further reading


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