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... See more...

Aliases for EPPK1 Gene

Aliases for EPPK1 Gene

  • Epiplakin 1 2 3 5
  • Epidermal Autoantigen 450K 2 3
  • 450 KDa Epidermal Antigen 3 4
  • Epiplakin 3 4
  • EPIPL1 2 3
  • EPIPL 3 4
  • EPPK1 5

External Ids for EPPK1 Gene

Previous GeneCards Identifiers for EPPK1 Gene

  • GC00U990974
  • GC08P145491
  • GC08M144716
  • GC08M145046
  • GC08U900493
  • GC08M145012
  • GC08M144935

Summaries for EPPK1 Gene

Entrez Gene Summary for EPPK1 Gene

  • 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]

GeneCards Summary for EPPK1 Gene

EPPK1 (Epiplakin 1) is a Protein Coding gene. Diseases associated with EPPK1 include Melanotic Medulloblastoma and Vater/Vacterl Association. Among its related pathways are Cytoskeleton remodeling Neurofilaments. An important paralog of this gene is PLEC.

UniProtKB/Swiss-Prot Summary for EPPK1 Gene

  • Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress (PubMed:15671067, PubMed:27206504, PubMed:23398049). In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:27206504, PubMed:23398049). However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization (By similarity).

Gene Wiki entry for EPPK1 Gene

Additional gene information for EPPK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPPK1 Gene

Genomics for EPPK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPPK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J143968 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -95.2 -95197 11 SP1 HNRNPL GATAD2A CTCF IKZF1 NFKBIZ ZNF692 POLR2A BACH1 TARDBP PLEC ZNF623 ZNF7 ZNF251 LRRC14 ZNF16 CPSF1 GPAA1 WDR97 ZNF707
GH08J143873 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +2.7 2743 6.3 HNRNPL CREB1 ZBTB33 PRDM10 ZNF629 IKZF1 ZNF692 TARDBP ZHX2 JUND piR-31056 CPSF1 VPS28 ZNF7 ADCK5 EPPK1 LRRC14 PARP10 ZNF707 COMMD5
GH08J143902 Enhancer 1.2 Ensembl ENCODE dbSUPER 13.1 -24.8 -24847 3.2 HNRNPL CREB1 GATAD2A CTCF PRDM10 BACH1 JUND LARP7 ZNF143 RFX1 lnc-PLEC-4 PLEC EPPK1 PUF60 MIR661 NRBP2 SCRIB PARP10 SPATC1 EXOSC4
GH08J143905 Enhancer 1.2 Ensembl ENCODE dbSUPER 13.1 -27.5 -27500 2.1 HNRNPL CREB1 GATAD2A ZBTB33 TFE3 NFKBIZ RCOR2 TARDBP FOXA1 IRF2 PLEC EPPK1 PUF60 MIR661 NRBP2 SCRIB SPATC1 PARP10 EXOSC4 ENSG00000255224
GH08J143964 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -87.1 -87104 3.6 CEBPG CREB1 FOXA1 CEBPB CTBP1 ESRRA ZNF592 PKNOX1 GATAD2B HCFC1 PLEC PARP10 SPATC1 EXOSC4 ENSG00000255224 EPPK1 PUF60 C8orf82 C8orf31 EEF1D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPPK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPPK1

Top Transcription factor binding sites by QIAGEN in the EPPK1 gene promoter:
  • ATF6
  • Egr-3
  • FOXO4
  • GR
  • GR-alpha
  • GR-beta
  • LCR-F1
  • Nkx2-5
  • Pax-4a
  • STAT5A

Genomic Locations for EPPK1 Gene

Genomic Locations for EPPK1 Gene
chr8:143,857,319-143,879,043
(GRCh38/hg38)
Size:
21,725 bases
Orientation:
Minus strand
chr8:144,935,822-144,952,632
(GRCh37/hg19)
Size:
16,811 bases
Orientation:
Minus strand

Genomic View for EPPK1 Gene

Genes around EPPK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPPK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPPK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPPK1 Gene

Proteins for EPPK1 Gene

  • Protein details for EPPK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58107-EPIPL_HUMAN
    Recommended name:
    Epiplakin
    Protein Accession:
    P58107
    Secondary Accessions:
    • A0A087X1U6
    • Q76E58
    • Q9NSU9

    Protein attributes for EPPK1 Gene

    Size:
    5088 amino acids
    Molecular mass:
    555658 Da
    Quaternary structure:
    • Interacts with KRT5, KRT14 and KRT5/KRT14 heterotetramer; interacts preferentially with assembled filaments rather than keratin monomers (PubMed:15671067). Interacts with KRT8 and KRT18 and KRT8/KRT18 heterotetramer; interacts preferentially with assembled filaments rather than keratin monomers (PubMed:15671067). Interacts with KRT1, VIM and DES; interaction is stronger with KRT1 than with VIM or DES; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132).
    SequenceCaution:
    • Sequence=BAB40803.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC92750.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for EPPK1 Gene

Post-translational modifications for EPPK1 Gene

  • Ubiquitination at Lys97 and Lys680
  • Modification sites at PhosphoSitePlus

Other Protein References for EPPK1 Gene

No data available for DME Specific Peptides for EPPK1 Gene

Domains & Families for EPPK1 Gene

Gene Families for EPPK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EPPK1 Gene

InterPro:
Blocks:
  • Plectin repeat
ProtoNet:

Suggested Antigen Peptide Sequences for EPPK1 Gene

GenScript: Design optimal peptide antigens:
  • 450 kDa epidermal antigen (EPIPL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P58107

UniProtKB/Swiss-Prot:

EPIPL_HUMAN :
  • Plectin repeats are important for the binding to keratin and VIM and controls intermediate filament networks organization.
  • Belongs to the plakin or cytolinker family.
Domain:
  • Plectin repeats are important for the binding to keratin and VIM and controls intermediate filament networks organization.
Family:
  • Belongs to the plakin or cytolinker family.
genes like me logo Genes that share domains with EPPK1: view

Function for EPPK1 Gene

Molecular function for EPPK1 Gene

UniProtKB/Swiss-Prot Function:
Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress (PubMed:15671067, PubMed:27206504, PubMed:23398049). In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:27206504, PubMed:23398049). However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated upon calcium-mediated keratinocyte differentiation.

Phenotypes From GWAS Catalog for EPPK1 Gene

Gene Ontology (GO) - Molecular Function for EPPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005198 structural molecule activity IBA 21873635
GO:0019215 intermediate filament binding IPI 15671067
GO:1990254 keratin filament binding IBA 21873635
genes like me logo Genes that share ontologies with EPPK1: view
genes like me logo Genes that share phenotypes with EPPK1: view

Animal Models for EPPK1 Gene

MGI Knock Outs for EPPK1:

Animal Model Products

CRISPR Products

miRNA for EPPK1 Gene

miRTarBase miRNAs that target EPPK1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPPK1 Gene

Localization for EPPK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPPK1 Gene

Cytoplasm, cytoskeleton. Cell junction, hemidesmosome. Cell junction, tight junction. Cell projection. Apicolateral cell membrane. Basolateral cell membrane. Cell junction. Note=May move dynamically from bundling intermediate filaments in the cytoplasm or at the cell periphery and reinforcing them (PubMed:23398049). Decorates the keratin intermediate filaments (IF) network and partially that of vimentin (PubMed:15671067). {ECO:0000269 PubMed:15671067, ECO:0000269 PubMed:23398049}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPPK1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 4
cytosol 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA,IDA 15671067
GO:0005882 colocalizes_with intermediate filament IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA,IDA 23398049
genes like me logo Genes that share ontologies with EPPK1: view

Pathways & Interactions for EPPK1 Gene

PathCards logo

SuperPathways for EPPK1 Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Neurofilaments
.32
genes like me logo Genes that share pathways with EPPK1: view

Pathways by source for EPPK1 Gene

1 GeneGo (Thomson Reuters) pathway for EPPK1 Gene
  • Cytoskeleton remodeling Keratin filaments

Gene Ontology (GO) - Biological Process for EPPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010839 negative regulation of keratinocyte proliferation ISS --
GO:0030336 negative regulation of cell migration IMP 23398049
GO:0042060 wound healing IMP 27206504
GO:0045104 intermediate filament cytoskeleton organization IBA 21873635
GO:0045109 intermediate filament organization ISS --
genes like me logo Genes that share ontologies with EPPK1: view

No data available for SIGNOR curated interactions for EPPK1 Gene

Drugs & Compounds for EPPK1 Gene

No Compound Related Data Available

Transcripts for EPPK1 Gene

mRNA/cDNA for EPPK1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPPK1

Alternative Splicing Database (ASD) splice patterns (SP) for EPPK1 Gene

No ASD Table

Relevant External Links for EPPK1 Gene

GeneLoc Exon Structure for
EPPK1

Expression for EPPK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPPK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPPK1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.8) and Skin - Not Sun Exposed (Suprapubic) (x8.8).

Protein differential expression in normal tissues from HIPED for EPPK1 Gene

This gene is overexpressed in Nasal epithelium (19.5) and Salivary gland (18.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPPK1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPPK1

SOURCE GeneReport for Unigene cluster for EPPK1 Gene:

Hs.743673

mRNA Expression by UniProt/SwissProt for EPPK1 Gene:

P58107-EPIPL_HUMAN
Tissue specificity: Expressed in epithelial cells of liver, small intestine, colon, salivary glands, stomach and appendix.

Evidence on tissue expression from TISSUES for EPPK1 Gene

  • Lung(5)
  • Pancreas(5)
  • Liver(4.4)
  • Blood(4.4)
  • Intestine(2.8)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with EPPK1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPPK1 Gene

Orthologs for EPPK1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPPK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPPK1 30
  • 98.55 (n)
Cow
(Bos Taurus)
Mammalia EPPK1 30
  • 84.34 (n)
Dog
(Canis familiaris)
Mammalia EPPK1 30
  • 80.82 (n)
Mouse
(Mus musculus)
Mammalia Eppk1 30 17
  • 78 (n)
Rat
(Rattus norvegicus)
Mammalia Eppk1 30
  • 76.27 (n)
Chicken
(Gallus gallus)
Aves EPPK1 30
  • 64.47 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101733226 30
  • 52.54 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101885652 30
  • 53.1 (n)
Species where no ortholog for EPPK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EPPK1 Gene

ENSEMBL:
Gene Tree for EPPK1 (if available)
TreeFam:
Gene Tree for EPPK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPPK1: view image

Paralogs for EPPK1 Gene

(2) SIMAP similar genes for EPPK1 Gene using alignment to 2 proteins:

  • EPIPL_HUMAN
  • E9PPU0_HUMAN
genes like me logo Genes that share paralogs with EPPK1: view

Variants for EPPK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPPK1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
VAR_081533 - p.Ser1094Asn

Additional dbSNP identifiers (rs#s) for EPPK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EPPK1 Gene

Variant ID Type Subtype PubMed ID
dgv1203n67 CNV gain 20364138
dgv1204n67 CNV gain 20364138
dgv12431n54 CNV loss 21841781
dgv59n47 CNV gain 21111241
dgv906n27 CNV loss 19166990
esv1175491 CNV insertion 17803354
esv3398382 CNV duplication 20981092
esv3619119 CNV loss 21293372
nsv1161815 CNV deletion 26073780
nsv466009 CNV loss 19166990
nsv612896 CNV loss 21841781
nsv612897 CNV loss 21841781
nsv6444 CNV insertion 18451855
nsv824785 CNV loss 20364138
nsv950015 CNV deletion 24416366

Variation tolerance for EPPK1 Gene

Gene Damage Index Score: 15.65; 97.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPPK1 Gene

Human Gene Mutation Database (HGMD)
EPPK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPPK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPPK1 Gene

Disorders for EPPK1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EPPK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
melanotic medulloblastoma
  • medulloblastoma, melanotic
vater/vacterl association
  • vacterl association
vacterl association
  • vater syndrome
3-methylglutaconic aciduria, type vii
  • mgca7
sarcomatosis
- elite association - COSMIC cancer census association via MalaCards
Search EPPK1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with EPPK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPPK1 Gene

Publications for EPPK1 Gene

  1. Characterization of human epiplakin: RNAi-mediated epiplakin depletion leads to the disruption of keratin and vimentin IF networks. (PMID: 15671067) Jang SI … Steinert PM (Journal of cell science 2005) 2 3 4 23
  2. Epiplakin, a novel member of the Plakin family originally identified as a 450-kDa human epidermal autoantigen. Structure and tissue localization. (PMID: 11278896) Fujiwara S … Yoshioka H (The Journal of biological chemistry 2001) 2 3 4 23
  3. Interactions between epiplakin and intermediate filaments. (PMID: 16923132) Wang W … Fujiwara S (The Journal of dermatology 2006) 3 4 23
  4. Structure and heterogeneity of the human gene for epiplakin (EPPK1). (PMID: 14708632) Takeo N … Fujiwara S (The Journal of investigative dermatology 2003) 3 4 23
  5. Effects of epiplakin-knockdown in cultured corneal epithelial cells. (PMID: 27206504) Kokado M … Saika S (BMC research notes 2016) 3 4

Products for EPPK1 Gene

  • Signalway Proteins for EPPK1

Sources for EPPK1 Gene