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EPPK1 epiplakin 1 [ Homo sapiens (human) ]

Gene ID: 83481, updated on 12-Aug-2018

Summary

Official Symbol
EPPK1provided by HGNC
Official Full Name
epiplakin 1provided by HGNC
Primary source
HGNC:HGNC:15577
See related
Ensembl:ENSG00000261150 MIM:607553; Vega:OTTHUMG00000165206
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

Genomic context

See EPPK1 in Genome Data Viewer
Location:
8q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (143857319..143879043, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144939492..144952632, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986985 Neighboring gene poly(U) binding splicing factor 60 Neighboring gene nuclear receptor binding protein 2 Neighboring gene microRNA 6845 Neighboring gene plectin Neighboring gene microRNA 661 Neighboring gene poly(ADP-ribose) polymerase family member 10

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 Jun 15 11:32:44 2016

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
intermediate filament binding IPI
Inferred from Physical Interaction
more info
PubMed 
keratin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
intermediate filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament organization IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
intermediate filament organization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of keratinocyte migration ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of keratinocyte proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of epithelium regeneration ISS
Inferred from Sequence or Structural Similarity
more info
 
wound healing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
apicolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
hemidesmosome IDA
Inferred from Direct Assay
more info
PubMed 
COLOCALIZES_WITH intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
COLOCALIZES_WITH keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
keratin filament IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with keratin filament ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_031308.3NP_112598.3  epiplakin

    See identical proteins and their annotated locations for NP_112598.3

    Status: REVIEWED

    Source sequence(s)
    AC109322, AC234917, AL137725, BM851776, BP313273
    Consensus CDS
    CCDS75800.1
    UniProtKB/Swiss-Prot
    P58107
    UniProtKB/TrEMBL
    A0A087X1U6
    Related
    ENSP00000484472.1, OTTHUMP00000276122, ENST00000615648.1, OTTHUMT00000382675
    Conserved Domains (2) summary
    smart00250
    Location:679716
    PLEC; Plectin repeat
    pfam00681
    Location:34043443
    Plectin; Plectin repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    143857319..143879043 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013890.1XP_016869379.1  epiplakin isoform X2

    UniProtKB/TrEMBL
    A0A087X1U6
    Conserved Domains (2) summary
    smart00250
    Location:679716
    PLEC; Plectin repeat
    pfam00681
    Location:34043443
    Plectin; Plectin repeat
  2. XM_017013892.1XP_016869381.1  epiplakin isoform X3

  3. XM_017013889.1XP_016869378.1  epiplakin isoform X1

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