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EPPK1 epiplakin 1 [ Homo sapiens (human) ]

Gene ID: 83481, updated on 7-Jan-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
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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)

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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

  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

    UniProtKB/TrEMBL
    A0A075B730
  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
    UniProtKB/TrEMBL
    A0A075B730
  5. XM_047422292.1XP_047278248.1  epiplakin isoform X2

    UniProtKB/TrEMBL
    A0A075B730

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

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