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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 (Periplakin) is a Protein Coding gene. Diseases associated with PPL include Pemphigus and Paraneoplastic Pemphigus. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Keratinization. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is EVPL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IBA | 21873635 |
GO:0005200 | structural constituent of cytoskeleton | TAS | 9521878 |
GO:0005515 | protein binding | IEA,IPI | 12244133 |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001533 | cornified envelope | TAS | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratinization |
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2 | Class I MHC mediated antigen processing and presentation | ||
3 | Butyrophilin (BTN) family interactions | ||
4 | Developmental Biology | ||
5 | Innate Immune System |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009612 | response to mechanical stimulus | IEP | 19211270 |
GO:0031424 | keratinization | IEA | -- |
GO:0042060 | wound healing | IBA | 21873635 |
GO:0045104 | intermediate filament cytoskeleton organization | IBA | 21873635 |
GO:0070268 | cornification | TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PPL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PPL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ppl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ppl 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PPL 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PPL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PPL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppl 30 |
|
||
Str.10922 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.13246 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ppl 30 31 |
|
OneToOne | |
sbcb180 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | shot 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | vab-10 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708418 | Likely Benign: not provided | 4,893,545(-) | G/A | SYNONYMOUS_VARIANT | |
710342 | Benign: not provided | 4,893,249(-) | A/G | SYNONYMOUS_VARIANT | |
711642 | Benign: not provided | 4,885,975(-) | T/TCCA | INFRAME_INSERTION | |
714683 | Benign: not provided | 4,890,179(-) | C/G | INTRON_VARIANT | |
714684 | Benign: not provided | 4,891,888(-) | G/A | MISSENSE_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pemphigus |
|
|
paraneoplastic pemphigus |
|
|
pemphigus foliaceus |
|
|
pemphigus vulgaris, familial |
|
|
bullous pemphigoid |
|