PKP3 - plakophilin 3 Gene

Homo sapiens

Gene ID: 11187 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10613	PKP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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