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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
  • Epiplakin 3
  • 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 Vater/Vacterl Association. Among its related pathways are Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is DSP.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G143873 2 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +2.2 2164 6.3 PKNOX1 ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 FEZF1 ZBTB7B YY1 EPPK1 PLEC FAM83H CYC1 PUF60 EXOSC4 SCRIB MROH6 NAPRT PIR32055
GH08G143968 1.7 Ensembl ENCODE dbSUPER 11.1 -95.8 -95776 11.0 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D PLEC MAF1 WDR97 MIR661 SPATC1 PARP10 EXOSC4 ENSG00000255224 GPAA1 CYC1
GH08G143964 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -87.7 -87684 3.6 PKNOX1 FOXA2 SIN3A CEBPG ZBTB7B HIC1 CTBP1 GATA3 RCOR1 HCFC1 PLEC PARP10 SPATC1 EXOSC4 ENSG00000255224 EPPK1 PUF60 C8orf82 C8orf31 EEF1D
GH08G143903 1.2 Ensembl ENCODE dbSUPER 13.1 -26.1 -26103 1.8 CTCF PKNOX1 RFX1 SIN3A MNT BMI1 RAD21 ZNF274 POLR2A HSF1 PLEC EPPK1 PUF60 MIR661 NRBP2 SCRIB PARP10 SPATC1 EXOSC4 ENSG00000255224
GH08G143905 1.2 ENCODE dbSUPER 13.1 -27.8 -27795 1.5 FOXA2 ARID4B SIN3A DMAP1 ZNF48 ZBTB7B SLC30A9 CBX5 ZNF143 SP5 PLEC EPPK1 PUF60 MIR661 NRBP2 SCRIB SPATC1 PARP10 EXOSC4 ENSG00000255224
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000232159 -36 601 TBP NFIB ARID4B SIN3A ZBTB40 ZBTB7B GLIS2 ELK1 KLF7 SMAD5

Genomic Location for EPPK1 Gene

Chromosome:
8
Start:
143,857,319 bp from pter
End:
143,878,464 bp from pter
Size:
21,146 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:
    • Q76E58
    • Q9NSU9

    Protein attributes for EPPK1 Gene

    Size:
    5090 amino acids
    Molecular mass:
    555621 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=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

Post-translational modifications for EPPK1 Gene

  • Ubiquitination at isoforms=97 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

Protein Domains for EPPK1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EPPK1 Gene

GenScript: Design optimal peptide antigens:

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.

Gene Ontology (GO) - Molecular Function for EPPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0008092 cytoskeletal protein binding IEA --
GO:0019215 intermediate filament binding IPI 15671067
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

miRNA for EPPK1 Gene

miRTarBase miRNAs that target EPPK1

Inhibitory RNA Products

Clone Products

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 3
cytosol 3
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EPPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IDA 15671067
GO:0005923 bicellular tight junction IDA 23398049
GO:0016323 basolateral plasma membrane IEA --
GO:0016327 apicolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with EPPK1: view

Pathways & Interactions for EPPK1 Gene

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

Interacting Proteins for EPPK1 Gene

Gene Ontology (GO) - Biological Process for EPPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0010839 negative regulation of keratinocyte proliferation ISS --
GO:0030336 negative regulation of cell migration IMP 23398049
GO:0042060 wound healing IMP 27206504
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

(5) 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:

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for EPPK1 Gene

GeneLoc Exon Structure for
EPPK1
ECgene alternative splicing isoforms for
EPPK1

Expression for EPPK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of EPPK1 Gene:

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(4.3)
  • Blood(4.2)
  • Intestine(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with EPPK1: view

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 34
  • 98.55 (n)
cow
(Bos Taurus)
Mammalia EPPK1 34
  • 84.34 (n)
dog
(Canis familiaris)
Mammalia EPPK1 34
  • 80.82 (n)
mouse
(Mus musculus)
Mammalia Eppk1 34 16
  • 78 (n)
rat
(Rattus norvegicus)
Mammalia Eppk1 34
  • 76.27 (n)
chicken
(Gallus gallus)
Aves EPPK1 34
  • 64.47 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733226 34
  • 52.54 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101885652 34
  • 53.1 (n)
Species where no ortholog for EPPK1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for EPPK1 (if available)
TreeFam:
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
rs1000620600 -- 143,873,085(+) GTAGA(C/T)ACTCT reference, missense
rs1000734905 -- 143,872,945(+) CCCAC(C/T)AGACC reference, synonymous-codon
rs1001031141 -- 143,866,753(+) TTGCT(A/G)GTTTC reference, synonymous-codon
rs1001417527 -- 143,874,866(+) TCCCA(C/T)GTTTG intron-variant
rs1001470014 -- 143,880,139(+) TGGCC(C/G)TGCTC upstream-variant-2KB

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)

Relevant External Links for EPPK1 Gene

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

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
vater/vacterl association
  • vacterl 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:
EPPK1
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 S.I. … Steinert P.M. (J. Cell. Sci. 2005) 2 3 4 22 64
  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. (J. Biol. Chem. 2001) 2 3 4 22 64
  3. Interactions between epiplakin and intermediate filaments. (PMID: 16923132) Wang W. … Fujiwara S. (J. Dermatol. 2006) 3 4 22 64
  4. Structure and heterogeneity of the human gene for epiplakin (EPPK1). (PMID: 14708632) Takeo N. … Fujiwara S. (J. Invest. Dermatol. 2003) 3 4 22 64
  5. Effects of epiplakin-knockdown in cultured corneal epithelial cells. (PMID: 27206504) Kokado M. … Saika S. (BMC Res. Notes 2016) 3 4 64

Products for EPPK1 Gene

Sources for EPPK1 Gene

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