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    EPPK1 epiplakin 1 [ Homo sapiens (human) ]

    Gene ID: 83481, updated on 5-May-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPPK1 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143857324..143879194, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145014015..145036744, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144939497..144952635, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:144911577-144912776 Neighboring gene uncharacterized LOC107986985 Neighboring gene poly(U) binding splicing factor 60 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144918993-144919720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144923032-144923762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144923763-144924492 Neighboring gene nuclear receptor binding protein 2 Neighboring gene microRNA 6845 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:144939917-144940418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:144940419-144940918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144948081-144948772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144949483-144950125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144953345-144953987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144959005-144959528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144959529-144960052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144964657-144965548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144965549-144966440 Neighboring gene Sharpr-MPRA regulatory region 5026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144977006-144977576 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:144990280-144990475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144999476-145000347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28075 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145002644-145002773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145006382-145007317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28077 Neighboring gene plectin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28079 Neighboring gene Sharpr-MPRA regulatory region 8265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28080 Neighboring gene uncharacterized LOC124902040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145020877-145021664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145021665-145022452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145024027-145024814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145031501-145032404 Neighboring gene microRNA 661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145038963-145039740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145039741-145040518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145040519-145041295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145046021-145046870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145046871-145047718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19643 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145050844-145051005 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145051354-145051848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145060401-145061304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19648 Neighboring gene Sharpr-MPRA regulatory region 3935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145065969-145066470 Neighboring gene poly(ADP-ribose) polymerase family member 10 Neighboring gene glutamate ionotropic receptor NMDA type subunit associated protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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 
    colocalizes_with intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    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

    Preferred Names
    epiplakin
    Names
    450 kDa epidermal antigen
    epidermal autoantigen 450K

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_033825.1 RefSeqGene

      Range
      5001..26146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_880

    mRNA and Protein(s)

    1. NM_031308.4NP_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:679716
      PLEC; Plectin repeat
      pfam00681
      Location:34043443
      Plectin; Plectin repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      143857324..143879194 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422291.1XP_047278247.1  epiplakin isoform X1

    2. XM_017013890.2XP_016869379.1  epiplakin isoform X3

      UniProtKB/Swiss-Prot
      A0A087X1U6, P58107, Q76E58, Q9NSU9
      UniProtKB/TrEMBL
      A0A075B730
      Conserved Domains (2) summary
      smart00250
      Location:679716
      PLEC; Plectin repeat
      pfam00681
      Location:34043443
      Plectin; Plectin repeat
    3. XM_017013892.2XP_016869381.2  epiplakin isoform X4

    4. XM_047422293.1XP_047278249.1  epiplakin isoform X3

      UniProtKB/Swiss-Prot
      A0A087X1U6, P58107, Q76E58, Q9NSU9
    5. XM_047422292.1XP_047278248.1  epiplakin isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145014015..145036744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)