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Aliases for EPPK1 Gene

Aliases for EPPK1 Gene

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

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 Vacterl Association. Among its related pathways are EGFR1 Signaling Pathway and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is DST.

Gene Wiki entry for EPPK1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPPK1 Gene

Genomics for EPPK1 Gene

Regulatory Elements for EPPK1 Gene

Enhancers for EPPK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPPK1 on UCSC Golden Path with GeneCards custom track

Promoters for EPPK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPPK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPPK1 Gene

143,857,319 bp from pter
143,878,464 bp from pter
21,146 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q76E58
    • Q9NSU9

    Protein attributes for EPPK1 Gene

    5090 amino acids
    Molecular mass:
    555621 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB40803.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC92750.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for EPPK1 Gene

Proteomics data for EPPK1 Gene at MOPED

Post-translational modifications for EPPK1 Gene

  • Ubiquitination at Lys 97 and Lys 680
  • Modification sites at PhosphoSitePlus

Other Protein References for EPPK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPPK1 Gene

Domains & Families for EPPK1 Gene

Gene Families for EPPK1 Gene

Protein Domains for EPPK1 Gene


Suggested Antigen Peptide Sequences for EPPK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the plakin or cytolinker family.
  • Contains 65 plectin repeats.
  • Belongs to the plakin or cytolinker family.
  • Contains 65 plectin repeats.
genes like me logo Genes that share domains with EPPK1: view

Function for EPPK1 Gene

genes like me logo Genes that share phenotypes with EPPK1: view

Animal Models for EPPK1 Gene

MGI Knock Outs for EPPK1:

Animal Model Products

miRNA for EPPK1 Gene

miRTarBase miRNAs that target EPPK1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Subcellular locations from

Jensen Localization Image for EPPK1 Gene COMPARTMENTS Subcellular localization image for EPPK1 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for EPPK1 Gene

Pathways & Interactions for EPPK1 Gene

genes like me logo Genes that share pathways with EPPK1: view

Pathways by source for EPPK1 Gene

1 BioSystems pathway for EPPK1 Gene
1 GeneGo (Thomson Reuters) pathway for EPPK1 Gene

Interacting Proteins for EPPK1 Gene

Gene Ontology (GO) - Biological Process for EPPK1 Gene


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

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPPK1 Gene

Epiplakin 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for EPPK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EPPK1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for EPPK1 Gene

SOURCE GeneReport for Unigene cluster for EPPK1 Gene Hs.743673

mRNA Expression by UniProt/SwissProt for EPPK1 Gene

Tissue specificity: Widely expressed with highest levels in liver, small intestine, colon, salivary glands, stomach and appendix.
genes like me logo Genes that share expression patterns with EPPK1: view

No data available for Protein tissue co-expression partners 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
(Bos Taurus)
Mammalia EPPK1 35
  • 84.34 (n)
  • 80.38 (a)
(Canis familiaris)
Mammalia EPPK1 35
  • 80.82 (n)
  • 75.53 (a)
(Mus musculus)
Mammalia Eppk1 35
  • 78 (n)
  • 75.52 (a)
Eppk1 16
(Pan troglodytes)
Mammalia EPPK1 35
  • 98.55 (n)
  • 98.2 (a)
(Rattus norvegicus)
Mammalia Eppk1 35
  • 76.27 (n)
  • 74.19 (a)
(Gallus gallus)
Aves EPPK1 35
  • 64.47 (n)
  • 54.13 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733226 35
  • 52.54 (n)
  • 45.82 (a)
(Danio rerio)
Actinopterygii LOC101885652 35
  • 53.1 (n)
  • 49.28 (a)
Species with no ortholog for EPPK1:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for EPPK1 (if available)
Gene Tree for EPPK1 (if available)

Paralogs for EPPK1 Gene

Paralogs for EPPK1 Gene

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

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

Variants for EPPK1 Gene

Sequence variations from dbSNP and Humsavar for EPPK1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs7830726 -- 143,857,285(+) GATTA(C/G)TGATT downstream-variant-500B
rs7839934 -- 143,867,013(+) CAGCA(C/G)CCAGC reference, missense
rs9314419 -- 143,874,693(+) CCCTG(C/T)GCCCA intron-variant
rs10110152 -- 143,877,056(+) ACAGG(A/G)CGCTT intron-variant
rs10112287 -- 143,874,291(+) CTGCA(C/G)CAgat intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7935n71 CNV Loss 21882294
dgv7939n71 CNV Loss 21882294
dgv7940n71 CNV Loss 21882294
dgv7943n71 CNV Loss 21882294
nsv891766 CNV Loss 21882294
dgv7945n71 CNV Loss 21882294
nsv466009 CNV Loss 19166990
dgv1203n67 CNV Gain 20364138
dgv906n27 CNV Loss 19166990
nsv824785 CNV Loss 20364138
dgv1204n67 CNV Gain 20364138
nsv6444 CNV Insertion 18451855
nsv824789 CNV Gain 20364138
dgv1205n67 CNV Gain 20364138
nsv824792 CNV Gain 20364138
esv1005471 CNV Insertion 20482838
dgv59n47 CNV Gain 21111241
esv1175491 CNV Insertion 17803354

Variation tolerance for EPPK1 Gene

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

Relevant External Links for EPPK1 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for EPPK1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
melanotic medulloblastoma
  • medulloblastoma, melanotic
vacterl association
  • vacterl/vater association
- elite association - COSMIC cancer census association via MalaCards
Search EPPK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EPPK1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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. (J. Biol. Chem. 2001) 2 3 4 23 67
  2. Characterization of human epiplakin: RNAi-mediated epiplakin depletion leads to the disruption of keratin and vimentin IF networks. (PMID: 15671067) Jang S.I. … Steinert P.M. (J. Cell. Sci. 2005) 2 3 23
  3. A proteomics strategy to elucidate functional protein-protein interactions applied to EGF signaling. (PMID: 12577067) Blagoev B. … Mann M. (Nat. Biotechnol. 2003) 3 23
  4. Epiplakin gene analysis in mouse reveals a single exon encoding a 725-kDa protein with expression restricted to epithelial tissues. (PMID: 12791695) Spazierer D. … Wiche G. (J. Biol. Chem. 2003) 3 23
  5. Structure and heterogeneity of the human gene for epiplakin (EPPK1). (PMID: 14708632) Takeo N. … Fujiwara S. (J. Invest. Dermatol. 2003) 3 23

Products for EPPK1 Gene

Sources for EPPK1 Gene