PPL periplakin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPLprovided by HGNC
Official Full Name: periplakinprovided by HGNC
Primary source: HGNC:HGNC:9273
See related: Ensembl:ENSG00000118898 MIM:602871; AllianceGenome:HGNC:9273
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Biased expression in esophagus (RPKM 300.0) and skin (RPKM 63.7) See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (4882507..4937148, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (4911997..4966688, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (4932508..4987149, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
Title: Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
Binding of the periplakin linker requires vimentin acidic residues D176 and E187.
Title: Binding of the periplakin linker requires vimentin acidic residues D176 and E187.
The 4717C > G polymorphism in periplakin modulates sensitivity to EGFR inhibitors.
Title: The 4717C > G polymorphism in periplakin modulates sensitivity to EGFR inhibitors.
These data identify an important regulatory role for periplakin SUMOylation in dynamic reorganization and stability of keratin intermediate filaments.
Title: SUMOylation of periplakin is critical for efficient reorganization of keratin filament network.
Letter: suggest periplakin autoimmunity may be involved in asthma pathogenesis.
Title: Perip7lakin is a target for autoimmunity in asthma.
PPL overexpression inhibited the growth of colon cancer.
Title: Loss of periplakin expression is associated with the tumorigenesis of colorectal carcinoma.
Low serum periplakin is associated with urothelial carcinoma.
Title: Serum periplakin as a potential biomarker for urothelial carcinoma of the urinary bladder.
Human gamma-delta T cells are activated by cytosolic interactions of BTN3A1 with soluble phosphoantigens and the cytoskeletal adaptor periplakin.
Title: Activation of human γδ T cells by cytosolic interactions of BTN3A1 with soluble phosphoantigens and the cytoskeletal adaptor periplakin.
Loss of periplakin expression is associated with pathological stage and cancer-specific survival in patients with urothelial carcinoma of the urinary bladder.
Title: Loss of periplakin expression is associated with pathological stage and cancer-specific survival in patients with urothelial carcinoma of the urinary bladder.
Annexin A9 and periplakin co-localise in the epidermis and annexin A9 is up-regulated in differentiating keratinocytes, but the epidermal annexin A9 expression does not require periplakin.
Title: Annexin A9 is a periplakin interacting partner in membrane-targeted cytoskeletal linker protein complexes.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15620 (e-PCR)
- UniSTS:16206

D16S3214 (e-PCR)
- UniSTS:49552

RH65233 (e-PCR)
- UniSTS:92661

SHGC-60728 (e-PCR)
- UniSTS:46838

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
enables structural molecule activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cornified envelope	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in desmosome	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
colocalizes_with intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: periplakin

Names: 190 kDa paraneoplastic pemphigus antigen; 195 kDa cornified envelope precursor protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002705.5 → NP_002696.4 periplakin

Status: REVIEWED

Source sequence(s)

AC027687

Consensus CDS

CCDS10526.1

UniProtKB/Swiss-Prot

O60314, O60437, O60454, Q14C98

UniProtKB/TrEMBL

K7EKI8

Related

ENSP00000340510.2, ENST00000345988.7

Conserved Domains (3) summary

smart00250
Location:1657 → 1685

PLEC; Plectin repeat

cl02488
Location:215 → 389

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl25732
Location:796 → 1587

SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

4882507..4937148 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017023375.3 → XP_016878864.1 periplakin isoform X2

UniProtKB/TrEMBL

K7EKI8
XM_006720902.5 → XP_006720965.1 periplakin isoform X3

UniProtKB/TrEMBL

K7EKI8

Conserved Domains (4) summary

pfam05483
Location:802 → 1559

SCP-1; Synaptonemal complex protein 1 (SCP-1)

smart00250
Location:1670 → 1698

PLEC; Plectin repeat

cl02488
Location:228 → 402

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19219
Location:914 → 1008

DUF342; Protein of unknown function (DUF342)
XM_017023374.3 → XP_016878863.1 periplakin isoform X1

UniProtKB/TrEMBL

K7EKI8