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Aliases for PPL Gene

Aliases for PPL Gene

  • Periplakin 2 3
  • 195 KDa Cornified Envelope Precursor Protein 4
  • 190 KDa Paraneoplastic Pemphigus Antigen 4
  • KIAA0568 4

External Ids for PPL Gene

Previous GeneCards Identifiers for PPL Gene

  • GC16M004955
  • GC16M004932

Summaries for PPL Gene

Entrez Gene Summary for PPL Gene

  • 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]

GeneCards Summary for PPL Gene

PPL (Periplakin) is a Protein Coding gene. Diseases associated with PPL include paraneoplastic pemphigus and pemphigus vegetans. Among its related pathways are Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is DST.

UniProtKB/Swiss-Prot for PPL Gene

  • Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling.

Gene Wiki entry for PPL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPL Gene

Genomics for PPL Gene

Regulatory Elements for PPL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PPL Gene

Chromosome:
16
Start:
4,882,507 bp from pter
End:
4,960,741 bp from pter
Size:
78,235 bases
Orientation:
Minus strand

Genomic View for PPL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPL Gene

Proteins for PPL Gene

  • Protein details for PPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60437-PEPL_HUMAN
    Recommended name:
    Periplakin
    Protein Accession:
    O60437
    Secondary Accessions:
    • O60314
    • O60454
    • Q14C98

    Protein attributes for PPL Gene

    Size:
    1756 amino acids
    Molecular mass:
    204747 Da
    Quaternary structure:
    • Homodimer or a heterodimer with EVPL. Interacts with PPHLN1 and VIM. Binds to the PH domain of AKT1. Interacts with FCGR1A.

    Three dimensional structures from OCA and Proteopedia for PPL Gene

neXtProt entry for PPL Gene

Proteomics data for PPL Gene at MOPED

Post-translational modifications for PPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PPL Gene

Domains & Families for PPL Gene

Gene Families for PPL Gene

HGNC:

Protein Domains for PPL Gene

Suggested Antigen Peptide Sequences for PPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60437

UniProtKB/Swiss-Prot:

PEPL_HUMAN :
  • Belongs to the plakin or cytolinker family.
  • Contains 2 plectin repeats.
Family:
  • Belongs to the plakin or cytolinker family.
Similarity:
  • Contains 2 plectin repeats.
  • Contains 4 spectrin repeats.
genes like me logo Genes that share domains with PPL: view

Function for PPL Gene

Molecular function for PPL Gene

GENATLAS Biochemistry:
periplakin,expressed in specialized epithelia (keratinocytes),plakin family of cell junction proteins,with multiple repeats,acting as an autoantigen in the malignant autoimmune blistering disease,paraneoplastic pemphigus
UniProtKB/Swiss-Prot Function:
Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling.
UniProtKB/Swiss-Prot Induction:
During differentiation of epidermal keratinocytes.

Gene Ontology (GO) - Molecular Function for PPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 9521878
GO:0005515 protein binding IPI 12244133
genes like me logo Genes that share ontologies with PPL: view
genes like me logo Genes that share phenotypes with PPL: view

Animal Models for PPL Gene

MGI Knock Outs for PPL:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPL

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PPL Gene

Localization for PPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPL Gene

Cell junction, desmosome. Cytoplasm, cytoskeleton. Cell membrane. Nucleus. Mitochondrion. Note=Associated with desmosomes and intermediate filaments.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPL Gene COMPARTMENTS Subcellular localization image for PPL gene
Compartment Confidence
extracellular 5
cytoskeleton 4
mitochondrion 3
nucleus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0030057 desmosome IEA --
genes like me logo Genes that share ontologies with PPL: view

Pathways & Interactions for PPL Gene

genes like me logo Genes that share pathways with PPL: view

Pathways by source for PPL Gene

1 GeneGo (Thomson Reuters) pathway for PPL Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with PPL: view

No data available for SIGNOR curated interactions for PPL Gene

Drugs & Compounds for PPL Gene

(2) Additional Compounds for PPL Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
asulam
LIPID
genes like me logo Genes that share compounds with PPL: view

Transcripts for PPL Gene

Unigene Clusters for PPL Gene

Periplakin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPL Gene

No ASD Table

Relevant External Links for PPL Gene

GeneLoc Exon Structure for
PPL
ECgene alternative splicing isoforms for
PPL

Expression for PPL Gene

mRNA expression in normal human tissues for PPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPL Gene

This gene is overexpressed in Esophagus - Mucosa (x18.6), Vagina (x6.0), Skin - Sun Exposed (Lower leg) (x4.4), and Cervix - Ectocervix (x4.2).

Protein differential expression in normal tissues from HIPED for PPL Gene

This gene is overexpressed in Nasal epithelium (36.6) and Saliva (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PPL Gene



SOURCE GeneReport for Unigene cluster for PPL Gene Hs.192233

mRNA Expression by UniProt/SwissProt for PPL Gene

O60437-PEPL_HUMAN
Tissue specificity: Expressed in stratified squamous epithelia and in some other epithelia.
genes like me logo Genes that share expression patterns with PPL: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for PPL Gene

Orthologs for PPL Gene

This gene was present in the common ancestor of animals.

Orthologs for PPL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPL 35
  • 85.37 (n)
  • 84.87 (a)
PPL 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPL 35
  • 86.86 (n)
  • 87.98 (a)
PPL 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppl 35
  • 84.78 (n)
  • 88.26 (a)
Ppl 16
Ppl 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPL 35
  • 96.84 (n)
  • 96.26 (a)
PPL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppl 35
  • 84.51 (n)
  • 88.08 (a)
oppossum
(Monodelphis domestica)
Mammalia PPL 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPL 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPL 35
  • 72.18 (n)
  • 69.67 (a)
PPL 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPL 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppl 35
  • 65.87 (n)
  • 64.51 (a)
Str.10922 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13246 35
zebrafish
(Danio rerio)
Actinopterygii ppl 35
  • 60.51 (n)
  • 54.29 (a)
sbcb180 35
ppl 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shot 36
  • 4 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-10 36
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
OneToMany
Species with no ortholog for PPL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPL Gene

ENSEMBL:
Gene Tree for PPL (if available)
TreeFam:
Gene Tree for PPL (if available)

Paralogs for PPL Gene

Paralogs for PPL Gene

(1) SIMAP similar genes for PPL Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PPL: view

Variants for PPL Gene

Sequence variations from dbSNP and Humsavar for PPL Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs760117 -- 4,891,046(-) CTCCG(A/G)TCCTT intron-variant
rs760118 -- 4,890,993(-) GGGGC(C/T)TCAGT intron-variant
rs887852 -- 4,935,607(-) GGCAT(C/T)ACCCG intron-variant
rs1049206 -- 4,885,145(-) GTGGT(A/G)CAGGA synonymous-codon, reference
rs2471844 -- 4,890,808(-) CACTG(C/T)CCGGA synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for PPL Gene

Variant ID Type Subtype PubMed ID
esv2422516 CNV Deletion 17116639
nsv510674 CNV Loss 20534489
nsv1720 CNV Loss 18451855
esv25186 CNV Gain 19812545
nsv905252 CNV Loss 21882294
nsv905253 CNV Loss 21882294
nsv905254 CNV Loss 21882294
esv2659199 CNV Deletion 23128226
esv2750430 CNV Deletion 23290073
dgv795e1 CNV Complex 17122850
nsv827530 CNV Gain 20364138

Variation tolerance for PPL Gene

Residual Variation Intolerance Score: 99.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.51; 99.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPL Gene

HapMap Linkage Disequilibrium report
PPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPL Gene

Disorders for PPL Gene

MalaCards: The human disease database

(7) MalaCards diseases for PPL Gene - From: DISEASES, NovoSeek, and GeneCards

- elite association
Search PPL in MalaCards View complete list of genes associated with diseases

Relevant External Links for PPL

Genetic Association Database (GAD)
PPL
Human Genome Epidemiology (HuGE) Navigator
PPL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPL
genes like me logo Genes that share disorders with PPL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPL Gene

Publications for PPL Gene

  1. cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes. (PMID: 9521878) Aho S. … Uitto J. (Genomics 1998) 2 23 67
  2. Biomechanical stress induces novel arterial intima-enriched genes: implications for vascular adaptation to stress. (PMID: 19211270) Pyle A.L. … Young P.P. (Cardiovasc. Pathol. 2010) 23 67
  3. Immunoglobulin A antibodies against desmoglein 1, envoplakin, periplakin and BP230 in a patient with atypical bullous pemphigoid. (PMID: 20507390) Yamaki F. … Hashimoto T. (J. Dermatol. 2010) 23 67
  4. Selectivity and functional consequences of interactions of family A G protein-coupled receptors with neurochondrin and periplakin. (PMID: 19166508) Ward R.J. … Milligan G. (J. Neurochem. 2009) 23 67
  5. Atypical paraneoplastic pemphigus secondary to endometrial carcinoma with no mucosal involvement. (PMID: 19438579) Kennedy N.A. … Dawe S. (Clin. Exp. Dermatol. 2009) 23 67

Products for PPL Gene

Sources for PPL Gene

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