PKP1 - plakophilin 1 Gene

Also Known as B6P; EDSFS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5317

About PKP1

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:201,283,506-201,332,989 (from NCBI)

This gene has 5 transcripts (splice variants), 262 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 358.6) and esophagus (RPKM 152.0).

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 be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

PKP1 Products (2)

mRNA	Protein	Name
NM_000299.4	NP_000290.2	plakophilin-1 isoform 1b
NM_001005337.3	NP_001005337.1	plakophilin-1 isoform 1a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables DNA binding	IDA IDA: Inferred from direct assay	20613778	GOA
enables lamin binding	IDA IDA: Inferred from direct assay	10852826	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10852826	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in intermediate filament bundle assembly	IDA IDA: Inferred from direct assay	10852826	GOA
involved in negative regulation of mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	25225333	GOA
involved in positive regulation of cap-dependent translational initiation	IMP IMP: Inferred from mutant phenotype	23444369	GOA
involved in positive regulation of cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	23444369	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	25225333	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20156963	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	20613778	GOA
located in desmosome	IDA IDA: Inferred from direct assay	20613778	GOA
located in nuclear stress granule	IDA IDA: Inferred from direct assay	20156963	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20613778	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	20156963	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20156963	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

PKP1 Protein Structure

Arm

0
200
400
600
747 a.a.

Protein Preferred Names	Protein Names
plakophilin-1	band 6 protein

PKP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	PKP1	Q13835	GTF2IRD1	Homo sapiens	Q9UHL9	Y2H	26275350
Intra	PKP1	Q13835	TNS2	Homo sapiens	Q63HR2	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ectodermal Dysplasia/Skin Fragility Syndrome	Mcgrath Syndrome Ectodermal Dysplasia-Skin Fragility Syndrome Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency EDSFS Ectodermal Dysplasia Skin Fragility Syndrome Ectodermal Dysplasia - Skin Fragility Syndrome Dysplasia, Ectodermal, Skin Fragility Syndrome Ectodermal Dysplasia/ Skin Fragility Syndrome
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Epidermolysis Bullosa	Acantholysis Bullosa Eb
Pemphigus
Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation Ebsmp Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering Ebs-Mp EBS2F Ebs With Mottled Pigmentation Epidermolysis Bullosa Simplex-Mp Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering Epidermolysis Bullosa Simplex, With Mottled Pigmentation
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
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
Epidermolysis Bullosa Simplex 1a, Generalized Severe	Epidermolysis Bullosa Simplex, Dowling-Meara Type Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type EBS1A Ebsdm Epidermolysis Bullosa Simplex Dowling-Meara Type Epidermolysis Bullosa Simplex, Herpetiformis Ebs-Dm Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type Ebs-Gen Sev Epidermolysis Bullosa Herpetiformis Dowling-Meara Type Generalized Severe Epidermolysis Bullosa Simplex Dowling-Meara Type Epidermolysis Bullosa Simplex Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form Autosomal Dominant Generalized Ebs, Severe Form Epidermolysis Bullosa Simplex Herpetiformis Dm-Ebs Epidermolysis Bullosa Simplex, Generalized Severe Epidermolysis Bullosa Herpetiformis, Dowling-Meara Epidermolysis Bullosa Herpetiformis Dowling-Meara
N1 Diffuse Large B-Cell Lymphoma	N1 Dlbcl Doid:0081067
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
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
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
Tooth Ankylosis	Ankylosis Of Teeth Ankylosis Of Tooth
Hodgkin'S Lymphoma, Lymphocytic-Histiocytic Predominance	Hodgkin Disease Hodgkin Lymphoma, Lymphocyte-Rich Hodgkin Lymphoma, Lymphocytic-Histiocytic Predominance Hodgkin'S Disease, Lymphocyte Predominance Lymphocyte Rich Hodgkin'S Disease Lymphocyte Rich Classical Hodgkin Lymphoma
Palmoplantar Keratosis	Palmoplantar Keratoderma Keratosis Palmaris Et Plantaris Palmo-Plantar Keratodermas Keratoderma, Palmoplantar Keratoderma Palmoplantar Keratoderma, Palmoplantar, Diffuse Hyperkeratosis Of Palms And Soles Palmoplantar Hyperkeratosis
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hay-Wells Syndrome Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome Aec Syndrome AEC Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome Seres-Santamaria Arimany Muniz Syndrome Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects Ankyloblepharon Ectodermal Defects Cleft Lip/Palate Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate Rapp-Hodgkin Syndrome
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Hypotrichosis 2	HYPT2 Hypotrichosis Simplex Of The Scalp 1 Htss1 Htss Hypotrichosis, Spanish Type Spanish Type Hypotrichosis Hypotrichosis Spanish Type Hypotrichosis, Type 2 Hypotrichosis Simplex Of Scalp
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Squamous Cell Carcinoma, Head And Neck	Squamous Cell Carcinoma Of The Head And Neck HNSCC Head And Neck Squamous Cell Carcinoma Squamous Cell Carcinoma Of Lip Squamous Cell Carcinoma, Head And Neck, Somatic Carcinoma Of The Head And Neck Squamous Cell Carcinomas Of Head And Neck Scchn Squamous Cell Carcinoma Of The Hypopharynx Squamous Cell Carcinoma Of The Oropharynx Squamous Cell Carcinoma Of Salivary Glands Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses Squamous Cell Carcinoma Of The Oral Cavity Squamous Cell Carcinoma Of The Lip Carcinoma, Squamous Cell Of Head And Neck Lip Squamous Cell Carcinoma Carcinoma, Squamous Cell, Head And Neck Salivary Gland Squamous Cell Carcinoma Cancer Of Head And Neck Squamous Cell Carcinoma Of Oropharynx Nos
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

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)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS10611	PKP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PKP1	RGD	RGD:1307472
Macaca mulatta	PKP1	VGNC	VGNC:76151
Bos taurus	PKP1	VGNC	VGNC:97302
Felis catus	PKP1	VGNC	VGNC:97558
Mus musculus	PKP1	MGD	MGI:1328359
Others	PKP1	NCBI