AutismKB 2.0

Annotation Details for EEF1E1


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Basic Information Top
Gene Symbol:EEF1E1 ( AIMP3,P18 )
Gene Full Name: eukaryotic translation elongation factor 1 epsilon 1
Band: 6p24.3
Quick LinksEntrez ID:9521; OMIM: 609206; Uniprot ID:MCA3_HUMAN; ENSEMBL ID: ENSG00000124802; HGNC ID: 3212
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus-
GO:0005634ISS-nucleus-
GO:0005654IDA-nucleoplasm-
GO:0005730IDA-nucleolus-
GO:0005737ISS-cytoplasm-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding21516116
GO ID Evidence Qualifier GO_term References
GO:0006418TAS-tRNA aminoacylation for protein translation-
GO:0008285ISS-negative regulation of cell proliferation-
GO:0043065ISS-positive regulation of apoptotic process-
GO:0043517ISS-positive regulation of DNA damage response, signal transduction by p53 class mediator-
GO:2000774IDA-positive regulation of cellular senescence25465621
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
EEF1E1rs17531, rs4441993, rs6597300 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1913393
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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