Eppk1 epiplakin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eppk1provided by MGI
Official Full Name: epiplakin 1provided by MGI
Primary source: MGI:MGI:2386306
See related: AllianceGenome:MGI:2386306
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
Also known as: EPPK; EPIPL; EPIPL1; 6230424I18Rik
Summary: Enables keratin filament binding activity. Involved in several processes, including intermediate filament bundle assembly; negative regulation of keratinocyte migration; and regulation of epithelial cell proliferation. Located in several cellular components, including apicolateral plasma membrane; basal part of cell; and cell-cell junction. Colocalizes with keratin filament. Is expressed in several structures, including alimentary system; liver and biliary system; respiratory system; sensory organ; and skin. Orthologous to human EPPK1 (epiplakin 1). [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: suggests misassembly
Expression: Biased expression in colon adult (RPKM 46.7), duodenum adult (RPKM 23.5) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 D3; 15 35.37 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (75973337..76004395, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (76101488..76120195, complement)

Chromosome 15 - NC_000081.7 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?

Intragenic copy number variation in mouse epiplakin 1 (Eppk1) and the conservation of the repeat structures in the lower vertebrates.
Title: Intragenic copy number variation in mouse epiplakin 1 (Eppk1) and the conservation of the repeat structures in the lower vertebrates.
Epiplakin is a protective protein during acute pancreatitis, and that its loss causes impaired disease-associated keratin reorganization.
Title: Epiplakin deficiency aggravates murine caerulein-induced acute pancreatitis and favors the formation of acinar keratin granules.
In several liver stress models epiplakin and K8 genes displayed identical expression patterns and transgenic K8 overexpression resulted in elevated hepatic epiplakin levels.
Title: Epiplakin attenuates experimental mouse liver injury by chaperoning keratin reorganization.
Lacking epiplakin affects cell differentiation of the corneal epithelium, as well as its proliferation activity and its structural integrity.
Title: Increased fragility, impaired differentiation, and acceleration of migration of corneal epithelium of epiplakin-null mice.
Eppk1 serves as a useful marker for detecting the hepatic progenitor population in the developing and adult liver
Title: Epiplakin1 is expressed in the cholangiocyte lineage cells in normal liver and adult progenitor cells in injured liver.
These results suggest that Eppk1 is expressed both in embryonic and adult retina and may be involved in retinal development.
Title: Expression of Epiplakin1 in the developing and adult mouse retina.
Serves as a useful marker for detecting pancreatic progenitor cells in developing and regenerating pancreas.
Title: Expression patterns of epiplakin1 in pancreas, pancreatic cancer and regenerating pancreas.
characterization of the epiplakin gene locus and the isolation of full-length epiplakin cDNA using BAC vectors; expression is restricted to epithelial tissues and its gene maps to mouse chromosome 15
Title: Epiplakin gene analysis in mouse reveals a single exon encoding a 725-kDa protein with expression restricted to epithelial tissues.
EPPK might be linked functionally with keratin 6.
Title: Elimination of epiplakin by gene targeting results in acceleration of keratinocyte migration in mice.

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Variation

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Alleles

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

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables intermediate filament binding	ISO Inferred from Sequence Orthology more info
enables keratin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables keratin filament 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 cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of keratinocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of wound healing	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell proliferation involved in wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of epithelium regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info
involved_in wound healing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apicolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basal part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell periphery	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	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	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in hemidesmosome	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
colocalizes_with keratin filament	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with keratin filament	IDA Inferred from Direct Assay more info	PubMed
located_in keratin filament	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in perinucleolar compartment	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: epiplakin

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_144848.2 → NP_659097.2 epiplakin

See identical proteins and their annotated locations for NP_659097.2

Status: VALIDATED

Source sequence(s)

AY312170

UniProtKB/Swiss-Prot

Q8R0W0

Conserved Domains (2) summary

smart00250
Location:1649 → 1685

PLEC; Plectin repeat

pfam00681
Location:1687 → 1728

Plectin; Plectin repeat