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EPPK1 (epiplakin 1)

Identity

Alias_symbol (synonym)EPIPL1
Other aliasEPIPL
HGNC (Hugo) EPPK1
LocusID (NCBI) 83481
Atlas_Id 56608
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 143857319 and ends at 143878464 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)EPPK1   15577
LRG (Locus Reference Genomic)LRG_880
Cards
Entrez_Gene (NCBI)EPPK1  83481  epiplakin 1
AliasesEPIPL; EPIPL1
GeneCards (Weizmann)EPPK1
Ensembl hg19 (Hinxton)ENSG00000261150 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000261150 [Gene_View]  chr8:143857319-143878464 [Contig_View]  EPPK1 [Vega]
ICGC DataPortalENSG00000261150
TCGA cBioPortalEPPK1
AceView (NCBI)EPPK1
Genatlas (Paris)EPPK1
WikiGenes83481
SOURCE (Princeton)EPPK1
Genetics Home Reference (NIH)EPPK1
Genomic and cartography
GoldenPath hg38 (UCSC)EPPK1  -     chr8:143857319-143878464 -  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPPK1  -     8q24.3   [Description]    (hg19-Feb_2009)
EnsemblEPPK1 - 8q24.3 [CytoView hg19]  EPPK1 - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBIEPPK1 [Mapview hg19]  EPPK1 [Mapview hg38]
OMIM607553   
Gene and transcription
Genbank (Entrez)AB051895 AL137725 BM851776 BP313273
RefSeq transcript (Entrez)NM_031308
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPPK1
Cluster EST : UnigeneHs.743673 [ NCBI ]
CGAP (NCI)Hs.743673
Alternative Splicing GalleryENSG00000261150
Gene ExpressionEPPK1 [ NCBI-GEO ]   EPPK1 [ EBI - ARRAY_EXPRESS ]   EPPK1 [ SEEK ]   EPPK1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPPK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83481
GTEX Portal (Tissue expression)EPPK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP58107   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP58107  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP58107
Splice isoforms : SwissVarP58107
PhosPhoSitePlusP58107
Domains : Interpro (EBI)Plectin    Plectin_repeat   
Domain families : Pfam (Sanger)Plectin (PF00681)   
Domain families : Pfam (NCBI)pfam00681   
Domain families : Smart (EMBL)PLEC (SM00250)  
Conserved Domain (NCBI)EPPK1
DMDM Disease mutations83481
Blocks (Seattle)EPPK1
SuperfamilyP58107
Human Protein AtlasENSG00000261150
Peptide AtlasP58107
HPRD06500
IPIIPI00010951   IPI00923551   
Protein Interaction databases
DIP (DOE-UCLA)P58107
IntAct (EBI)P58107
FunCoupENSG00000261150
BioGRIDEPPK1
STRING (EMBL)EPPK1
ZODIACEPPK1
Ontologies - Pathways
QuickGOP58107
Ontology : AmiGORNA binding  cytoplasm  cytoskeleton  bicellular tight junction  cytoskeletal protein binding  biological_process  negative regulation of keratinocyte proliferation  basolateral plasma membrane  apicolateral plasma membrane  intermediate filament binding  hemidesmosome  negative regulation of cell migration  wound healing  cell projection  keratin filament  keratin filament  intermediate filament organization  intermediate filament organization  intermediate filament organization  negative regulation of epithelial cell proliferation  negative regulation of keratinocyte migration  negative regulation of wound healing  cell periphery  perinucleolar compartment  regulation of epithelium regeneration  
Ontology : EGO-EBIRNA binding  cytoplasm  cytoskeleton  bicellular tight junction  cytoskeletal protein binding  biological_process  negative regulation of keratinocyte proliferation  basolateral plasma membrane  apicolateral plasma membrane  intermediate filament binding  hemidesmosome  negative regulation of cell migration  wound healing  cell projection  keratin filament  keratin filament  intermediate filament organization  intermediate filament organization  intermediate filament organization  negative regulation of epithelial cell proliferation  negative regulation of keratinocyte migration  negative regulation of wound healing  cell periphery  perinucleolar compartment  regulation of epithelium regeneration  
NDEx NetworkEPPK1
Atlas of Cancer Signalling NetworkEPPK1
Wikipedia pathwaysEPPK1
Orthology - Evolution
OrthoDB83481
GeneTree (enSembl)ENSG00000261150
Phylogenetic Trees/Animal Genes : TreeFamEPPK1
HOVERGENP58107
HOGENOMP58107
Homologs : HomoloGeneEPPK1
Homology/Alignments : Family Browser (UCSC)EPPK1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPPK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPPK1
dbVarEPPK1
ClinVarEPPK1
1000_GenomesEPPK1 
Exome Variant ServerEPPK1
ExAC (Exome Aggregation Consortium)EPPK1 (select the gene name)
Genetic variants : HAPMAP83481
Genomic Variants (DGV)EPPK1 [DGVbeta]
DECIPHEREPPK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPPK1 
Mutations
ICGC Data PortalEPPK1 
TCGA Data PortalEPPK1 
Broad Tumor PortalEPPK1
OASIS PortalEPPK1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEPPK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EPPK1
DgiDB (Drug Gene Interaction Database)EPPK1
DoCM (Curated mutations)EPPK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPPK1 (select a term)
intoGenEPPK1
Cancer3DEPPK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607553   
Orphanet
MedgenEPPK1
Genetic Testing Registry EPPK1
NextProtP58107 [Medical]
TSGene83481
GENETestsEPPK1
Target ValidationEPPK1
Huge Navigator EPPK1 [HugePedia]
snp3D : Map Gene to Disease83481
BioCentury BCIQEPPK1
ClinGenEPPK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83481
Chemical/Pharm GKB GenePA27835
Clinical trialEPPK1
Miscellaneous
canSAR (ICR)EPPK1 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPPK1
EVEXEPPK1
GoPubMedEPPK1
iHOPEPPK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:07:08 CEST 2017

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