• Gene id: 11187

Gene Summary

• Gene Symbol: PKP3   Gene   UCSC   Ensembl
• Gene name: plakophilin 3
• Alternate names: plakophilin-3, plakophilin 3b,
• Gene location: 11p15.5 (392595: 404907)     Exons: 14     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the
• OMIM: 605464

Protein Summary

• Protein general information: Q9Y446  
  • Name: Plakophilin 3
  • Length: 797  
  • Mass: 87082
  • Tissue specificity: Isoform PKP3a is found in desmosomes of most simple and stratified epithelia. Not found in foreskin fibroblasts and various sarcoma-derived cell lines. Beside dendritic reticular cells of lymphatic follicles not found in non-epithelial
• Sequence:

  MQDGNFLLSALQPEAGVCSLALPSDLQLDRRGAEGPEAERLRAARVQEQVRARLLQLGQQPRHNGAAEPEPEAET
  ARGTSRGQYHTLQAGFSSRSQGLSGDKTSGFRPIAKPAYSPASWSSRSAVDLSCSRRLSSAHNGGSAFGAAGYGG
  AQPTPPMPTRPVSFHERGGVGSRADYDTLSLRSLRLGPGGLDDRYSLVSEQLEPAATSTYRAFAYERQASSSSSR
  AGGLDWPEATEVSPSRTIRAPAVRTLQRFQSSHRSRGVGGAVPGAVLEPVARAPSVRSLSLSLADSGHLPDVHGF
  NSYGSHRTLQRLSSGFDDIDLPSAVKYLMASDPNLQVLGAAYIQHKCYSDAAAKKQARSLQAVPRLVKLFNHANQ
  EVQRHATGAMRNLIYDNADNKLALVEENGIFELLRTLREQDDELRKNVTGILWNLSSSDHLKDRLARDTLEQLTD
  LVLSPLSGAGGPPLIQQNASEAEIFYNATGFLRNLSSASQATRQKMRECHGLVDALVTSINHALDAGKCEDKSVE
  NAVCVLRNLSYRLYDEMPPSALQRLEGRGRRDLAGAPPGEVVGCFTPQSRRLRELPLAADALTFAEVSKDPKGLE
  WLWSPQIVGLYNRLLQRCELNRHTTEAAAGALQNITAGDRRWAGVLSRLALEQERILNPLLDRVRTADHHQLRSL
  TGLIRNLSRNARNKDEMSTKVVSHLIEKLPGSVGEKSPPAEVLVNIIAVLNNLVVASPIAARDLLYFDGLRKLIF
  IKKKRDSPDSEKSSRAASSLLANLWQYNKLHRDFRAKGYRKEDFLGP

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR000225  IPR028434  IPR028435  
  • Prosite: PS50176
  • STRING: ENSP00000331678
• Other Databases: GeneCards:  PKP3  Malacards:  PKP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0045296	cadherin binding	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0005911	cell-cell junction	IBA	cellular component
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005911	cell-cell junction	TAS	cellular component
GO:0001533	cornified envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030057	desmosome	IEA	cellular component
GO:0045294	alpha-catenin binding	IPI	molecular function
GO:0098641	cadherin binding involved in cell-cell adhesion	HDA	molecular function
GO:0005912	adherens junction	HDA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0003723	RNA binding	IDA	NOT|molecular function
GO:1990124	messenger ribonucleoprotein complex	IDA	cellular component
GO:0006417	regulation of translation	IMP	NOT|biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:1902373	negative regulation of mRNA catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045182	translation regulator activity	IMP	NOT|molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0002159	desmosome assembly	IMP	biological process
GO:0050839	cell adhesion molecule binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq