PKP3 - plakophilin 3 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11187

About PKP3

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:392,596-404,908 (from NCBI)

This gene has 11 transcripts (splice variants), 265 orthologues and 6 paralogues. Biased expression in skin (RPKM 51.4), esophagus (RPKM 46.7) and 11 other tissues.

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 Cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

PKP3 Products (2)

mRNA	Protein	Name
NM_001303029.2	NP_001289958.1	plakophilin-3 isoform PKP3b
NM_007183.4	NP_009114.1	plakophilin-3 isoform PKP3a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables alpha-catenin binding	IPI IPI: Inferred from physical interaction	23136403	GOA
enables cell adhesion molecule binding	IPI IPI: Inferred from physical interaction	20859650	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	25225333	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24124604	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in desmosome assembly	IMP IMP: Inferred from mutant phenotype	20859650	GOA
involved in negative regulation of mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	25225333	GOA
involved in positive regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	24124604	GOA
involved in positive regulation of cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	29678907	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	20859650	GOA
NOT involved in regulation of translation	IMP IMP: Inferred from mutant phenotype	25225333	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	24124604	GOA
located in desmosome	IDA IDA: Inferred from direct assay	20613778	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24124604	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	25501895	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PKP3 Protein Structure

Arm

0
200
400
600
797 a.a.

Protein Preferred Names	Protein Names
plakophilin-3	plakophilin 3b

PKP3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PKP3	Q9Y446	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
Intra	PKP3	Q9Y446	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053
Intra	PKP3	Q9Y446	GFAP	Homo sapiens	P14136	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Viral Gastritis
Pemphigus
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Arrhythmogenic Right Ventricular Dysplasia 13 ARVD13 Arrhythmogenic Right Ventricular Cardiomyopathy 13 Arvc13 Familial Arrhythmogenic Right Ventricular Dysplasia 13 Dysplasia, Ventricular, Right, Arrhythmogenic, Familial, Type 13
Gastric Tubular Adenocarcinoma	Tubular Adenocarcinoma Of Stomach
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Carvajal Syndrome Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair DCWHK Dilated Cardiomyopathy With Woolly Hair And Keratoderma Cardiomyopathy Dilated With Woolly Hair And Keratoderma Kwwh Type Ii Keratoderma With Woolly Hair Type Ii Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy Cardiomyopathy, Dilated With Woolly Hair And Keratoderma
Naxos Disease	Mal De Naxos NXD Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities Kwwh Type I Keratoderma With Woolly Hair Type I Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy
Familial Woolly Hair Syndrome	Wooly Hair Familial Wooly Hair Syndrome Hereditary Woolly Hair Syndrome Hereditary Wooly Hair Syndrome Woolly Hair Syndrome With Woolly Hair Wooly Hair Syndrome
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic Palmoplantar Keratoderma NEPPK Tylosis Unna-Thost Syndrome Keratoderma, Palmoplantar, Diffuse Ppkne Keratoderma, Nonepidermolytic Palmoplantar Diffuse Nonepidermolytic Palmomplantar Keratoderma Thost-Unna Syndrome Non-Epidermolytic Palmoplantar Keratoderma Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type Diffuse Palmoplantar Keratoderma, Bothnian Type Krt1-Related Diffuse Nonepidermolytic Keratoderma Krt1-Related Diffuse Neppk Keratoderma, Palmoplantar, Non-Epidermolytic Nonepidermolytic Unna-Thost Disease Non-Epidermolytic Unna-Thost Disease Keratoderma, Palmoplantar, Nonepidermolytic Hyperkeratosis
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10613	PKP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PKP3	MGD	MGI:1891830
Canis familiaris	PKP3	VGNC	VGNC:44617
Bos taurus	PKP3	VGNC	VGNC:32951
Rattus norvegicus	PKP3	RGD	RGD:1309133
Felis catus	PKP3	VGNC	VGNC:68877
Macaca mulatta	PKP3	VGNC	VGNC:107460
Others	PKP3	NCBI