Aliases for PPL Gene
Aliases for PPL Gene
External Ids for PPL Gene
- HGNC: 9273
- Entrez Gene: 5493
- Ensembl: ENSG00000118898
- OMIM: 602871
- UniProtKB: O60437
Previous GeneCards Identifiers for PPL Gene
- GC16M004955
- GC16M004932
Summaries 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 Butyrophilin (BTN) family interactions and Keratinization. Gene Ontology (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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPL Gene
Genomics for PPL Gene
GeneHancer (GH) Regulatory Elements for PPL Gene
Promoters and enhancers for PPL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PPL on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PPL gene promoter:
-
- RFX1
- POU2F1c
- POU2F1b
- POU2F1a
- POU2F1
- ARP-1
- AP-1
- ER-alpha
- E47
- c-Myb
Regulatory Element Products
Genomic Locations for PPL Gene
Genomic Locations for PPL Gene
- chr16:4,882,507-4,960,741
- (GRCh38/hg38)
- Size:
- 78,235 bases
- Orientation:
- Minus strand
- chr16:4,932,508-5,010,742
- (GRCh37/hg19)
- 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:
-
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC
- 16p13.3 by Ensembl
PPL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for PPL Gene
Post-translational modifications for PPL Gene
Other Protein References for PPL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PPL
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-
Abcam antibodies for PPL
- Invitrogen Antibodies for PPL (AFLGC-PPL)
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-
Boster Bio Antibodies for PPL
-
Santa Cruz Biotechnology (SCBT) Antibodies for PPL
Protein Products
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OriGene Purified Proteins for PPL
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- antibodies-online: Search results for 5 available PPL Proteins ranked by validation data
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-
Quality Products:
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Assay Products
- antibodies-online: Search results for 9 available PPL Elisa Kits ranked by validation data
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-
Quality Products:
No data available for DME Specific Peptides for PPL Gene
Domains & Families for PPL Gene
Gene Families for PPL Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for PPL Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PPL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O60437- Family:
-
- Belongs to the plakin or cytolinker family.
Function for PPL Gene
Molecular function for PPL Gene
- 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.
- 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
Phenotypes From GWAS Catalog 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:0045296 | cadherin binding | IDA | 25468996 |
Phenotypes for PPL Gene
- MGI mutant phenotypes for PPL:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PPL:
-
- Increased G1 DNA content
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Increased viability
Animal Models for PPL Gene
- MGI Knock Outs for PPL:
-
- Ppl Ppl<tm1Aho>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PPL
-
CRISPR Products
-
OriGene CRISPR knockouts for PPL
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- Applied Biological Materials CRISPR for PPL
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Vectors and viruses for KO, Activation, Repression, and more
-
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- GenScript: Design CRISPR guide RNA sequences for PPL
miRNA for PPL Gene
- miRTarBase miRNAs that target PPL
-
- hsa-mir-155-5p (MIRT001519)
- hsa-mir-335-5p (MIRT018065)
- hsa-mir-186-5p (MIRT045015)
- hsa-mir-412-3p (MIRT439922)
- hsa-mir-127-5p (MIRT439923)
- hsa-mir-1229-3p (MIRT654866)
- hsa-mir-6794-3p (MIRT654867)
- hsa-mir-561-5p (MIRT654868)
- hsa-mir-627-3p (MIRT654869)
- hsa-mir-1304-3p (MIRT654870)
- hsa-mir-153-5p (MIRT654871)
- hsa-mir-4639-3p (MIRT654872)
- hsa-mir-4761-5p (MIRT654873)
- hsa-mir-1197 (MIRT735935)
- hsa-mir-217 (MIRT739039)
- hsa-mir-3919 (MIRT742953)
- hsa-mir-4418 (MIRT744158)
- hsa-mir-4756-3p (MIRT748391)
- hsa-mir-509-3-5p (MIRT749675)
- hsa-mir-509-5p (MIRT749711)
- hsa-mir-6807-3p (MIRT756509)
- hsa-mir-935 (MIRT760683)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for PPL
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- genomics-online: cdna clones - Search results for available PPL gene related products
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- Applied Biological Materials Clones for PPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PPL
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 4 |
- Plasma membrane (3)
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001533 | cornified envelope | TAS | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for PPL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratinization |
.33
|
|
| 2 | Class I MHC mediated antigen processing and presentation | ||
| 3 | Butyrophilin (BTN) family interactions | ||
| 4 | Developmental Biology | ||
| 5 | Innate Immune System |
.61
|
|
Pathways by source for PPL Gene
6 Reactome pathways for PPL Gene
1 GeneGo (Thomson Reuters) pathway for PPL Gene
Interacting Proteins for PPL Gene
Selected Interacting proteins:
O60437-PEPL_HUMAN
ENSP00000340510
for PPL Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PPL
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007010 | cytoskeleton organization | IEA | -- |
| GO:0009612 | response to mechanical stimulus | IEP | 19211270 |
| GO:0031424 | keratinization | IEA | -- |
| GO:0070268 | cornification | TAS | -- |
No data available for SIGNOR curated interactions for PPL Gene
Transcripts for PPL Gene
mRNA/cDNA for PPL Gene
- (4) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (177) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000345988 6238 bps (uc002cyd.1)
- ENST00000590782 5845 bps (uc059qkr.1)
- ENST00000592772 3615 bps (uc059qks.1)
- ENST00000589090 496 bps (uc059qkt.1)
- ENST00000590093 652 bps (uc059qku.1)
Unigene Clusters for PPL Gene
- Periplakin:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PPL
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- genomics-online: gRNA clones - Search results for available PPL gene related products
- Applied Biological Materials CRISPR for PPL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPL
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for PPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPL
- genomics-online: cdna clones - Search results for available PPL gene related products
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- Applied Biological Materials Clones for PPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PPL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Dental Placode Cells Dental Placode
- Granular Keratinocytes Stratified Epidermis
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Epidermis (Integumentary System)
- Granular Keratinocytes Stratified Epidermis
-
Tonsil (Hematopoietic System)
-
Esophagus (Gastrointestinal Tract)
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).
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, MaxQB, and MOPED for PPL Gene
NURSA nuclear receptor signaling pathways regulating expression of PPL Gene:
PPLSOURCE GeneReport for Unigene cluster for PPL Gene:
Hs.192233mRNA Expression by UniProt/SwissProt for PPL Gene:
O60437-PEPL_HUMAN
Tissue specificity:
Expressed in stratified squamous epithelia and in some other epithelia.
Evidence on tissue expression from TISSUES for PPL Gene
- Liver(4.7)
- Lung(4.7)
- Skin(4.6)
- Nervous system(4.4)
- Pancreas(3)
- Muscle(2.4)
- Blood(2.2)
- Heart(2)
- Intestine(2)
Primer Products
-
OriGene qPCR primer pairs for PPL
- genomics-online: primer clones - Search results for available PPL gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPL Gene
Orthologs for PPL Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PPL 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PPL 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PPL 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ppl 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ppl 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PPL 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PPL 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PPL 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PPL 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ppl 33 |
|
||
| Str.10922 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13246 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ppl 34 33 |
|
OneToOne | |
| sbcb180 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | shot 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | vab-10 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PPL: view image
Paralogs for PPL Gene
Variants for PPL Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000008367 | -- | 4,928,388(-) | A/G | intron_variant | |
| rs1000054415 | -- | 4,924,964(-) | C/T | intron_variant | |
| rs1000106277 | -- | 4,924,811(-) | C/A | intron_variant | |
| rs1000189628 | -- | 4,895,519(-) | C/G | intron_variant | |
| rs1000210729 | -- | 4,917,503(-) | G/A | intron_variant |
| 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 |
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)
Additional Variant Information for PPL Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPL Gene
Disorders for PPL Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| paraneoplastic pemphigus |
|
|
| pemphigus |
|
|
| pemphigus foliaceus |
|
|
| pemphigus vulgaris |
|
|
| follicular dendritic cell sarcoma |
|
|
Search PPL in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PPL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PPL Gene
Publications for PPL Gene
- 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 58
- Direct interaction between FcgammaRI (CD64) and periplakin controls receptor endocytosis and ligand binding capacity. (PMID: 15229321) Beekman JM … Leusen JH (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
- Binding of protein kinase B to the plakin family member periplakin. (PMID: 12244133) van den Heuvel AP … Burgering BM (Journal of cell science 2002) 3 4 22 58
- 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 58
- 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 FM (The Journal of cell biology 1997) 3 4 22 58
Products for PPL Gene
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Sources for PPL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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