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Aliases for PPL Gene

Aliases for PPL Gene

  • Periplakin 2 3 3 5
  • 195 KDa Cornified Envelope Precursor Protein 3 4
  • 190 KDa Paraneoplastic Pemphigus Antigen 3 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. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is EVPL.

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

Enhancers for PPL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F004918 0.8 Ensembl ENCODE 13.3 +41.7 41652 1.5 MAZ ZNF687 PKNOX1 ZHX2 SIN3A MNT NR3C1 DPF2 ZIC2 GATA3 SEPT12 GLYR1 PPL UBN1 ZNF500 GC16P004899 GC16M004952
GH16F004916 0.6 ENCODE 13.3 +43.5 43514 1.0 NFIA ZNF384 RARA ZNF121 JUND ZGPAT FOS NR2F6 GLYR1 PPL UBN1 SEPT12 GC16P004899 GC16M004952
GH16F004914 1.2 Ensembl ENCODE 13.3 +45.2 45218 1.6 BCOR MIER1 BHLHE40 ZMYM3 ELF1 ZIC2 ZNF7 ZGPAT ZNF239 FOS GLYR1 PPL UBN1 ZNF500 SEPT12 GC16P004899 GC16M004952
GH16F004911 0.2 ENCODE 13.3 +48.2 48213 1.9 KLF1 ZNF146 MAX CEBPG ZNF316 PRDM10 RCOR1 NFE2 MAFK HLF PPL GLYR1 UBN1 ZNF500 ENSG00000267077 GC16P004899 GC16M004952
GH16F004892 0.5 Ensembl ENCODE 11.7 +68.1 68054 1.1 PKNOX1 CBX3 MLX SIN3A DNMT3B ZNF48 SLC30A9 FOS RCOR1 ZNF263 PPL GLYR1 UBN1 SEPT12 LOC105371064 PIR34804
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PPL on UCSC Golden Path with GeneCards custom track

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

Genes around PPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for PPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPL Gene

Antibody Products

No data available for DME Specific Peptides for PPL Gene

Domains & Families for PPL Gene

Gene Families for PPL Gene

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
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
cytoskeleton 5
extracellular 5
nucleus 5
mitochondrion 4
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane 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

Gene Ontology (GO) - Biological Process for PPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0031424 keratinization IEA --
GO:0098609 cell-cell adhesion 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
genes like me logo Genes that share compounds with PPL: view

Transcripts for PPL Gene

Unigene Clusters for PPL Gene

Periplakin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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, MaxQB, and MOPED for PPL Gene



NURSA nuclear receptor signaling pathways regulating expression of PPL Gene:

PPL

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

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
chimpanzee
(Pan troglodytes)
Mammalia PPL 34 35
  • 96.84 (n)
dog
(Canis familiaris)
Mammalia PPL 34 35
  • 86.86 (n)
cow
(Bos Taurus)
Mammalia PPL 34 35
  • 85.37 (n)
mouse
(Mus musculus)
Mammalia Ppl 34 16 35
  • 84.78 (n)
rat
(Rattus norvegicus)
Mammalia Ppl 34
  • 84.51 (n)
oppossum
(Monodelphis domestica)
Mammalia PPL 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPL 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPL 34 35
  • 72.18 (n)
lizard
(Anolis carolinensis)
Reptilia PPL 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppl 34
  • 65.87 (n)
Str.10922 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13246 34
zebrafish
(Danio rerio)
Actinopterygii ppl 34 35
  • 60.51 (n)
sbcb180 34
fruit fly
(Drosophila melanogaster)
Insecta shot 35
  • 4 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-10 35
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
OneToMany
Species where no ortholog for PPL was found in the sources mined by GeneCards:
  • 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
rs10163248 -- 4,925,460(+) TCTCA(G/T)AGCCC intron-variant, nc-transcript-variant
rs10163254 -- 4,926,046(+) AACAG(A/G)CCTTT intron-variant, nc-transcript-variant
rs1029966 -- 4,922,962(-) TCTGG(A/G)ACGCA intron-variant
rs1049205 -- 4,892,098(-) GACCC(A/G)GGTGG reference, missense
rs1049206 -- 4,885,145(-) GTGGT(A/G)CAGGA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv2422516 CNV deletion 17116639
esv25186 CNV gain 19812545
esv2659199 CNV deletion 23128226
esv2750430 CNV deletion 23290073
esv2760069 CNV gain+loss 17122850
esv3637710 CNV loss 21293372
esv3637711 CNV loss 21293372
esv3637712 CNV loss 21293372
nsv1039730 CNV loss 25217958
nsv1046986 CNV gain 25217958
nsv1720 CNV deletion 18451855
nsv510674 CNV deletion 20534489
nsv827530 CNV gain 20364138

Variation tolerance for PPL Gene

Residual Variation Intolerance Score: 99.2% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 - COSMIC cancer census association via MalaCards
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 3 4 22 64
  2. Direct interaction between FcgammaRI (CD64) and periplakin controls receptor endocytosis and ligand binding capacity. (PMID: 15229321) Beekman J.M. … Leusen J.H.W. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  3. Binding of protein kinase B to the plakin family member periplakin. (PMID: 12244133) van den Heuvel A.P. … Burgering B.M.T. (J. Cell Sci. 2002) 3 4 22 64
  4. Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements. (PMID: 10051401) Aho S. … Uitto J. (Genomics 1999) 3 4 22 64
  5. Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin. (PMID: 9412476) Ruhrberg C. … Watt F.M. (J. Cell Biol. 1997) 3 4 22 64

Products for PPL Gene

Sources for PPL Gene

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