AutismKB 2.0

Annotation Details for EPPK1


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Basic Information Top
Gene Symbol:EPPK1 ( EPIPL,EPIPL1 )
Gene Full Name: epiplakin 1
Band: 8q24.3
Quick LinksEntrez ID:83481; OMIM: 607553; Uniprot ID:EPIPL_HUMAN; ENSEMBL ID: ; HGNC ID: 15577
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IEA-cytoplasm-
GO:0005856IDA-cytoskeleton15671067
GO:0005923IDA-bicellular tight junction23398049
GO:0016323IEA-basolateral plasma membrane-
GO:0016327IEA-apicolateral plasma membrane-
GO:0030056IDA-hemidesmosome23398049
GO:0042995IEA-cell projection-
GO:0045095IDA-keratin filament23398049
GO:0045095ISScolocalizes_withkeratin filament-
GO:0071944IDA-cell periphery23398049
GO:0097356IDA-perinucleolar compartment15671067
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22681889
GO:0008092IEA-cytoskeletal protein binding-
GO:0019215IPI-intermediate filament binding15671067
GO ID Evidence Qualifier GO_term References
GO:0008150ND-biological_process-
GO:0010839ISS-negative regulation of keratinocyte proliferation-
GO:0030336IMP-negative regulation of cell migration23398049
GO:0042060IMP-wound healing27206504
GO:0045109IDA-intermediate filament organization23398049
GO:0045109IMP-intermediate filament organization15671067
GO:0045109ISS-intermediate filament organization-
GO:0050680IMP-negative regulation of epithelial cell proliferation27206504
GO:0051548ISS-negative regulation of keratinocyte migration-
GO:0061045IMP-negative regulation of wound healing23398049
GO:1905041ISS-regulation of epithelium regeneration-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EPPK1ARF610687717353931 Affinity Capture-MS
EPPK1ARF612366617353931 Affinity Capture-MS
EPPK1GRB210914212577067 Affinity Capture-MS
EPPK1GRB212366612577067 Affinity Capture-MS
EPPK1NME212366617353931 Affinity Capture-MS
EPPK1NME211089517353931 Affinity Capture-MS
EPPK1RASGRF211185917353931 Affinity Capture-MS
EPPK1RASGRF212366617353931 Affinity Capture-MS
EPPK1TRAF611304117353931 Affinity Capture-MS
EPPK1TRAF612366617353931 Affinity Capture-MS
EPPK1TSC22D111437417353931 Affinity Capture-MS
EPPK1TSC22D112366617353931 Affinity Capture-MS
EPPK1PHB211645917353931 Affinity Capture-MS
EPPK1PHB212366617353931 Affinity Capture-MS
EPPK1SRRM212366616159877 Affinity Capture-MS
EPPK1SRRM211707116159877 Affinity Capture-MS
GSTK1EPPK113187517353931 Affinity Capture-MS
GSTK1EPPK112366617353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2386306
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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