PKP3 (plakophilin 3)

Gene

• Entrez ID: 11187
• Gene name: Plakophilin 3
• Gene symbol: PKP3
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1238145	hsa-miR-1470	CLIP-seq
MIRT1238146	hsa-miR-1913	CLIP-seq
MIRT1238147	hsa-miR-2355-5p	CLIP-seq
MIRT1238148	hsa-miR-296-5p	CLIP-seq
MIRT1238149	hsa-miR-3136-3p	CLIP-seq
MIRT1238150	hsa-miR-3184	CLIP-seq
MIRT1238151	hsa-miR-324-3p	CLIP-seq
MIRT1238152	hsa-miR-3667-5p	CLIP-seq
MIRT1238153	hsa-miR-3691-3p	CLIP-seq
MIRT1238154	hsa-miR-423-5p	CLIP-seq
MIRT1238155	hsa-miR-4456	CLIP-seq
MIRT1238156	hsa-miR-4480	CLIP-seq
MIRT1238157	hsa-miR-4667-3p	CLIP-seq
MIRT1238158	hsa-miR-4725-5p	CLIP-seq
MIRT1238159	hsa-miR-4749-3p	CLIP-seq
MIRT1238160	hsa-miR-4786-3p	CLIP-seq
MIRT1238161	hsa-miR-504	CLIP-seq
MIRT1238162	hsa-miR-663b	CLIP-seq
MIRT2070105	hsa-miR-1225-3p	CLIP-seq
MIRT2070106	hsa-miR-1233	CLIP-seq
MIRT2070107	hsa-miR-134	CLIP-seq
MIRT2070108	hsa-miR-1825	CLIP-seq
MIRT2070109	hsa-miR-197	CLIP-seq
MIRT2070110	hsa-miR-1972	CLIP-seq
MIRT2070111	hsa-miR-2278	CLIP-seq
MIRT2070112	hsa-miR-3118	CLIP-seq
MIRT2070113	hsa-miR-3164	CLIP-seq
MIRT2070114	hsa-miR-4501	CLIP-seq
MIRT2070115	hsa-miR-4717-5p	CLIP-seq
MIRT2070116	hsa-miR-4755-3p	CLIP-seq
MIRT2070117	hsa-miR-512-3p	CLIP-seq
MIRT2070110	hsa-miR-1972	CLIP-seq
MIRT1238147	hsa-miR-2355-5p	CLIP-seq
MIRT1238153	hsa-miR-3691-3p	CLIP-seq
MIRT1238156	hsa-miR-4480	CLIP-seq
MIRT2070115	hsa-miR-4717-5p	CLIP-seq
MIRT2070116	hsa-miR-4755-3p	CLIP-seq
MIRT1238160	hsa-miR-4786-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZEB1	Repression	17391671

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0002159	Process	Desmosome assembly	IEA
GO:0002159	Process	Desmosome assembly	IMP	20859650
GO:0002159	Process	Desmosome assembly	ISS
GO:0002718	Process	Regulation of cytokine production involved in immune response	IEA
GO:0002718	Process	Regulation of cytokine production involved in immune response	ISS
GO:0002934	Process	Desmosome organization	IEA
GO:0002934	Process	Desmosome organization	ISS
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	24124604, 25225333, 29678907, 32296183, 32814053, 34058472
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24124604, 34058472
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24124604, 25501895, 34058472
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	25501895, 30949721
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	TAS	10374265
GO:0005912	Component	Adherens junction	HDA	25468996
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0006417	Process	Regulation of translation	IMP	25225333
GO:0007155	Process	Cell adhesion	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010669	Process	Epithelial structure maintenance	IEA
GO:0010669	Process	Epithelial structure maintenance	ISS
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	25225333
GO:0022409	Process	Positive regulation of cell-cell adhesion	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IMP	29678907
GO:0022409	Process	Positive regulation of cell-cell adhesion	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030054	Component	Cell junction	IDA
GO:0030057	Component	Desmosome	IDA	20613778, 20859650, 24124604, 25501895
GO:0030057	Component	Desmosome	IEA
GO:0030057	Component	Desmosome	ISS
GO:0045294	Function	Alpha-catenin binding	IPI	23136403
GO:0045296	Function	Cadherin binding	IBA
GO:0045785	Process	Positive regulation of cell adhesion	IMP	24124604
GO:0050839	Function	Cell adhesion molecule binding	IPI	20859650
GO:0051797	Process	Regulation of hair follicle development	IEA
GO:0051797	Process	Regulation of hair follicle development	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0072659	Process	Protein localization to plasma membrane	IMP	20859650
GO:0090136	Process	Epithelial cell-cell adhesion	IEA
GO:0090136	Process	Epithelial cell-cell adhesion	ISS
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098641	Function	Cadherin binding involved in cell-cell adhesion	HDA	25468996
GO:1902373	Process	Negative regulation of mRNA catabolic process	IMP	25225333
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IEA
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	ISS
GO:1903829	Process	Positive regulation of protein localization	IEA
GO:1903829	Process	Positive regulation of protein localization	ISS

Other IDs

• MIM: 605561
• HGNC: 9025
• e!Ensembl: ENSG00000184363

Protein

• UniProt ID: Q9Y446
• Protein name: Plakophilin-3
• Protein function: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:24124604). Required for the localization of DSG2, DSP and PKP2 to mature desmosome junctions (PubMed:20859650). May also play a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	350 → 390	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	392 → 432	Armadillo/beta-catenin-like repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the epidermis of the skin, in squamous non-cornifying epithelial cells in the vagina, single layer epithelia of the duodenum and pancreas acini and non-epithelial dendritic reticulum cells of lymph node follicles (at prote
• Sequence:

  MQDGNFLLSALQPEAGVCSLALPSDLQLDRRGAEGPEAERLRAARVQEQVRARLLQLGQQ
  PRHNGAAEPEPEAETARGTSRGQYHTLQAGFSSRSQGLSGDKTSGFRPIAKPAYSPASWS
  SRSAVDLSCSRRLSSAHNGGSAFGAAGYGGAQPTPPMPTRPVSFHERGGVGSRADYDTLS
  LRSLRLGPGGLDDRYSLVSEQLEPAATSTYRAFAYERQASSSSSRAGGLDWPEATEVSPS
  RTIRAPAVRTLQRFQSSHRSRGVGGAVPGAVLEPVARAPSVRSLSLSLADSGHLPDVHGF
  NSYGSHRTLQRLSSGFDDIDLPSAVKYLMASDPNLQVLGAAYIQHKCYSDAAAKKQARSL
  QAVPRLVKLFNHANQEVQRHATGAMRNLIYDNADNKLALVEENGIFELLRTLREQDDELR
  KNVTGILWNLSSSDHLKDRLARDTLEQLTDLVLSPLSGAGGPPLIQQNASEAEIFYNATG
  FLRNLSSASQATRQKMRECHGLVDALVTSINHALDAGKCEDKSVENAVCVLRNLSYRLYD
  EMPPSALQRLEGRGRRDLAGAPPGEVVGCFTPQSRRLRELPLAADALTFAEVSKDPKGLE
  WLWSPQIVGLYNRLLQRCELNRHTTEAAAGALQNITAGDRRWAGVLSRLALEQERILNPL
  LDRVRTADHHQLRSLTGLIRNLSRNARNKDEMSTKVVSHLIEKLPGSVGEKSPPAEVLVN
  IIAVLNNLVVASPIAARDLLYFDGLRKLIFIKKKRDSPDSEKSSRAASSLLANLWQYNKL
  HRDFRAKGYRKEDFLGP

• Sequence length: 797

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANORECTAL MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total lymphocyte count	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16103059		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24328683		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24328683	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22119253		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29377892, 34733461	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24178805		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22119253		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16103059		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30527804		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	34415821	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	LHGDN	18801625		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	18801625, 20501752	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34415821	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30855445	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	29722422		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	20501752		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16103059		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30527804		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22119253		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29377892, 37924160	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30527804		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30144176		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25875355, 29722422, 29803740		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16103059		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30527804		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30855445, 34733461	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34321959	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	19756386, 24328683	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	24328683		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20348237, 35075375	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	28088687	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21194493	Associate	★☆☆☆☆ Found in Text Mining only