Ppl periplakin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pplprovided by MGI
Official Full Name: periplakinprovided by MGI
Primary source: MGI:MGI:1194898
See related: Ensembl:ENSMUSG00000039457 AllianceGenome:MGI:1194898
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable structural molecule activity. Predicted to be involved in intermediate filament cytoskeleton organization and wound healing. Predicted to act upstream of or within keratinization. Located in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; lower urinary tract; naris; skin; and trachea. Orthologous to human PPL (periplakin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lung adult (RPKM 11.5), bladder adult (RPKM 10.7) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A1; 16 2.5 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (4904155..4950345, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (5086291..5132481, complement)

Chromosome 16 - NC_000082.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study in a mouse model of lung fibrosis induced by bleomycin found that Ppl expression was downregulated in the whole lung and in alveolar epithelial cells (AECs) after bleomycin-induced injury. Deletion of Ppl reduced lung fibrosis after bleomycin injury by promoting antiinflammatory cytokine expression and profoundly altering cellular signaling in AECs, including STAT3 activation, and TGF-beta/smad pathway activation.
Title: Identification of periplakin as a major regulator of lung injury and repair in mice.
Thus, combined loss of the cornified envelope proteins not only impairs the epidermal barrier, but also changes the composition of T cell subpopulations in the skin.
Title: Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.
Periplakin interferes with G protein activation by the melanin-concentrating hormone receptor-1 by binding to the proximal segment of the receptor C-terminal tail
Title: Periplakin interferes with G protein activation by the melanin-concentrating hormone receptor-1 by binding to the proximal segment of the receptor C-terminal tail.
Data suggest that the primary role of periplakin may not relate to the physiology of the cornified cell envelope in epidermal keratinocytes but may reside in the challenges, which normal laboratory mice do not encounter.
Title: Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124545 (e-PCR)
- UniSTS:161367

Ppl (e-PCR), detects polymorphism
- UniSTS:144254

RH139799 (e-PCR)
- UniSTS:221883

AW553870 (e-PCR)
- UniSTS:186052

AF013715 (e-PCR)
- UniSTS:186053

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction 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
acts_upstream_of_or_within keratinization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of antibacterial peptide production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in extrinsic component of plasma membrane	TAS Traceable Author Statement 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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: periplakin

Names: 195kDa 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_008909.2 → NP_032935.2 periplakin

See identical proteins and their annotated locations for NP_032935.2

Status: VALIDATED

Source sequence(s)

AC163723, AF126834, AK142562, AW553870, CJ056283

Consensus CDS

CCDS27932.1

UniProtKB/Swiss-Prot

O70231, Q9CUT1, Q9JLZ7, Q9R269

UniProtKB/TrEMBL

G5E898

Related

ENSMUSP00000039360.4, ENSMUST00000035672.5

Conserved Domains (5) summary

smart00250
Location:1655 → 1683

PLEC; Plectin repeat

COG3352
Location:1509 → 1602

FlaC; Archaellum component FlaC [Cell motility]

cd00176
Location:213 → 387

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; ...

TIGR02168
Location:943 → 1638

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cl19219
Location:903 → 993

DUF342; Protein of unknown function (DUF342)