EPPK1 epiplakin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPPK1provided by HGNC
Official Full Name: epiplakin 1provided by HGNC
Primary source: HGNC:HGNC:15577
See related: Ensembl:ENSG00000261150 MIM:607553; AllianceGenome:HGNC:15577
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
Also known as: EPIPL; EPIPL1
Summary: The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]
Expression: Biased expression in skin (RPKM 9.0), colon (RPKM 7.5) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (143857324..143879194, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (145014015..145036744, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (144939497..144952635, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KLF5-mediated Eppk1 expression promotes cell proliferation in cervical cancer via the p38 signaling pathway.
Title: KLF5-mediated Eppk1 expression promotes cell proliferation in cervical cancer via the p38 signaling pathway.
Epiplakin may be a cytolinker involved in maintaining the integrity of intermediate filaments networks in simple epithelial cells.
Title: Characterization of human epiplakin: RNAi-mediated epiplakin depletion leads to the disruption of keratin and vimentin IF networks.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	HIV-1 PR is identified to have a physical interaction with epiplakin 1 (EPPK1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables intermediate filament binding	IPI Inferred from Physical Interaction more info	PubMed
enables keratin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural molecule activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intermediate filament bundle assembly	IBA Inferred from Biological aspect of Ancestor 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of keratinocyte migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of keratinocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of epithelium regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info
involved_in wound healing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apicolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in hemidesmosome	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
colocalizes_with keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in keratin filament	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with keratin filament	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in perinucleolar compartment	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: epiplakin

Names: 450 kDa epidermal antigen; epidermal autoantigen 450K

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.

Genomic

NG_033825.1 RefSeqGene

Range

5001..26146

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_880

mRNA and Protein(s)

NM_031308.4 → NP_112598.3 epiplakin

See identical proteins and their annotated locations for NP_112598.3

Status: REVIEWED

Source sequence(s)

AC109322, AC234917, AL137725, BP313273

Consensus CDS

CCDS75800.1

UniProtKB/Swiss-Prot

A0A087X1U6, P58107, Q76E58, Q9NSU9

UniProtKB/TrEMBL

A0A075B730

Related

ENSP00000484472.1, ENST00000615648.2

Conserved Domains (2) summary

smart00250
Location:679 → 716

PLEC; Plectin repeat

pfam00681
Location:3404 → 3443

Plectin; Plectin repeat

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_000008.11 Reference GRCh38.p14 Primary Assembly

Range

143857324..143879194 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422291.1 → XP_047278247.1 epiplakin isoform X1

UniProtKB/TrEMBL

A0A075B730
XM_017013890.2 → XP_016869379.1 epiplakin isoform X3

UniProtKB/Swiss-Prot

A0A087X1U6, P58107, Q76E58, Q9NSU9

UniProtKB/TrEMBL

A0A075B730

Conserved Domains (2) summary

smart00250
Location:679 → 716

PLEC; Plectin repeat

pfam00681
Location:3404 → 3443

Plectin; Plectin repeat
XM_017013892.2 → XP_016869381.2 epiplakin isoform X4
XM_047422293.1 → XP_047278249.1 epiplakin isoform X3

UniProtKB/Swiss-Prot

A0A087X1U6, P58107, Q76E58, Q9NSU9

UniProtKB/TrEMBL

A0A075B730
XM_047422292.1 → XP_047278248.1 epiplakin isoform X2

UniProtKB/TrEMBL

A0A075B730