PPL - periplakin Gene

Homo sapiens

Gene ID: 5493 | Gene type: protein coding

About PPL

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:4,882,507-4,937,148 (from NCBI)

This gene has 6 transcripts (splice variants), 123 orthologues and 2 paralogues. Biased expression in esophagus (RPKM 300.0) and skin (RPKM 63.7).

Summary

The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. Akt1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]

PPL Products(1)

mRNA	Protein	Name
NM_002705.5	NP_002696.4	periplakin

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12244133	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in response to mechanical stimulus	IEP IEP: Inferred from expression pattern	19211270	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

PPL Protein Structure

Plectin

0
300
600
900
1200
1500
1756 a.a.

Protein Preferred Names

Protein Names

periplakin

190 kDa paraneoplastic pemphigus antigen

Related Diseases

Diseases

Alias

Paraneoplastic Pemphigus

Pemphigus

Pemphigus Foliaceus

Pemphigus Foliaceous	Pf
Superficial Pemphigus

Pemphigus Vulgaris, Familial

Pemphigus Vulgaris	Familial Pemphigus Vulgaris
Pemphigus

Bullous Pemphigoid

Benign Pemphigus	Senile Dermatitis Herpetiformis
Old Age Pemphigus	Parapemphigus
Pemphigoid	Pemphigoid Bullous
Pemphigoid, Bullous

Pemphigoid

Bronchiolitis Obliterans

Bronchiolitis Fibrosa Obliterans	Obliterative Bronchiolitis
Bronchiolitis Exudativa	Bronchiolitis, Exudative

Thymoma

Primary Thymic Epithelial Neoplasm	Primary Thymic Epithelial Tumor
Thymus Neoplasms

Pseudomembranous Conjunctivitis

Iga Pemphigus

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis	Sneddon-Wilkinson Disease Or Syndrome
Pustulosis Subcornealis	Sneddon-Wilkinson Disease
Skin Diseases, Vesiculobullous	Vesiculobullous Skin Disease

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Pemphigoid Gestationis

Herpes Gestationis	Gestational Pemphigoid
Gestational Herpes

Microcephaly And Chorioretinopathy 2

Acute Conjunctivitis

Lichen Disease

Castleman Disease

Angiofollicular Ganglionic Hyperplasia	Angiofollicular Lymph Hyperplasia
Giant Lymph Node Hyperplasia	Castleman'S Disease
Angiofollicular Lymph Node Hyperplasia	Lymphoid Hamartoma
Benign Giant Lymphoma	Angiolymphoid Hyperplasia

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-107098	PPL-100 free acid		/	Unkown
HY-E70307	Lipase, Porcine Pancreas		/	Unkown
HY-RS10959	PPL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PPL	MGD	MGI:1194898
Canis familiaris	PPL	VGNC	VGNC:44861
Rattus norvegicus	PPL	RGD	RGD:1305511
Felis catus	PPL	VGNC	VGNC:68991
Bos taurus	PPL	VGNC	VGNC:33208
Macaca mulatta	PPL	VGNC	VGNC:76240
Others	PPL	NCBI

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