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EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 [ Homo sapiens (human) ]

Gene ID: 9521, updated on 9-Feb-2020

Summary

Official Symbol
EEF1E1provided by HGNC
Official Full Name
eukaryotic translation elongation factor 1 epsilon 1provided by HGNC
Primary source
HGNC:HGNC:3212
See related
Ensembl:ENSG00000124802 MIM:609206
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
P18; AIMP3
Summary
This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in testis (RPKM 14.5), kidney (RPKM 11.4) and 25 other tissues See more
Orthologs

Genomic context

See EEF1E1 in Genome Data Viewer
Location:
6p24.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (8073360..8102548, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (8073593..8102828, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BLOC1S5-TXNDC5 readthrough (NMD candidate) Neighboring gene EEF1E1-BLOC1S5 readthrough (NMD candidate) Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 5 Neighboring gene small Cajal body-specific RNA 27 Neighboring gene uncharacterized LOC105374910 Neighboring gene uncharacterized LOC105374911

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA is identified to have a physical interaction with eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1) at amino acid residues 9-10 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of DNA damage response, signal transduction by p53 class mediator ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
aminoacyl-tRNA synthetase multienzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
eukaryotic translation elongation factor 1 epsilon-1
Names
ARS-interacting multifunctional protein 3
aminoacyl tRNA synthetase complex-interacting multifunctional protein 3
multisynthase complex auxiliary component p18
p18 component of aminoacyl-tRNA synthetase complex

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.

mRNA and Protein(s)

  1. NM_001135650.2NP_001129122.1  eukaryotic translation elongation factor 1 epsilon-1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI394376, BP235196, CK002875
    Consensus CDS
    CCDS47370.1
    UniProtKB/Swiss-Prot
    O43324
    Related
    ENSP00000414363.2, ENST00000429723.6
    Conserved Domains (1) summary
    cl02776
    Location:65128
    GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
  2. NM_004280.5NP_004271.1  eukaryotic translation elongation factor 1 epsilon-1 isoform 1

    See identical proteins and their annotated locations for NP_004271.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF054186, AI374688, BC005291, BG183264
    Consensus CDS
    CCDS4507.1
    UniProtKB/Swiss-Prot
    O43324
    Related
    ENSP00000369038.5, ENST00000379715.10
    Conserved Domains (1) summary
    cd10305
    Location:65165
    GST_C_AIMP3; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    8073360..8102548 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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