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

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; AllianceGenome:HGNC:3212
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: mouse all
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Genomic context

Location:: 6p24.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (8073360..8102548, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (7942094..7971293, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (8073593..8102781, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AIMP3 inhibits cell growth and metastasis of lung adenocarcinoma through activating a miR-96-5p-AIMP3-p53 axis.
Title: AIMP3 inhibits cell growth and metastasis of lung adenocarcinoma through activating a miR-96-5p-AIMP3-p53 axis.
The AIMP3 enhanced mitochondrial respiration and suppressed autophagic activity, indicating that the AIMP3-associated modulation of metabolism and autophagy is a key mechanism in the senescence of stem cells and further suggesting a novel target for interventions against aging.
Title: HIF1α-mediated AIMP3 suppression delays stem cell aging via the induction of autophagy.
LmnA binds AIMP3 via its extreme C-terminus. Together these findings provide a structural insight for understanding the interaction between AIMP3 and LmnA in AIMP3 degradation.
Title: Mapping the contact surfaces in the Lamin A:AIMP3 complex by hydrogen/deuterium exchange FT-ICR mass spectrometry.
analysis of the heterotetrameric complex structure of the glutathione transferase (GST) domains shared among the four MSC components, methionyl-tRNA synthetase (MRS), glutaminyl-prolyl-tRNA synthetase (EPRS), AIMP2 and AIMP3
Title: Assembly of Multi-tRNA Synthetase Complex via Heterotetrameric Glutathione Transferase-homology Domains.
AIMP3 was shown to be involved in the cellular aging of human mesenchymal stem cells.
Title: miR-543 and miR-590-3p regulate human mesenchymal stem cell aging via direct targeting of AIMP3/p18.
Identification of EEf1E1 and OBFC2B as novel BRCA1-partner genes in the DNA double-strand break repair pathway.
Title: Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.
AIMP3 stabilizes and protects methionyl-tRNA synthetase and eIF2gamma through the binding interactions.
Title: Contributions of aminoacyl-tRNA synthetase-interacting multifunctional protein-3 to mammalian translation initiation.
AIMP3 is a critical mediator of Met-tRNA(i)(Met) transfer from methionyl-tRNA synthetase to eIF2 complex for the accurate and efficient translation initiation
Title: AIMP3/p18 controls translational initiation by mediating the delivery of charged initiator tRNA to initiation complex.
Data show that aminoacyl-tRNA synthetase-interacting multifunctional protein-3 (AIMP3)/p18 is released from aminoacyl-tRNA synthetase-interacting multifunctional protein-3 (AIMP3) by UV irradiation-induced stress.
Title: Dual role of methionyl-tRNA synthetase in the regulation of translation and tumor suppressor activity of aminoacyl-tRNA synthetase-interacting multifunctional protein-3.
Decreased expression of AIMP3 in gastric and colorectal cancer tissues suggests that down-regulation of this protein may be related to inactivation of the tumor suppressor functions of AIMP proteins and might play a role in the development of GC and CRC.
Title: Expression of AIMP1, 2 and 3, the scaffolds for the multi-tRNA synthetase complex, is downregulated in gastric and colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-65844 (e-PCR)
- UniSTS:170080

D6S1855 (e-PCR)
- UniSTS:78441

RH46795 (e-PCR)
- UniSTS:53473

Readthrough EEF1E1-BLOC1S5

Readthrough gene: EEF1E1-BLOC1S5, Included gene: BLOC1S5

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cellular senescence	IDA Inferred from Direct Assay more info	PubMed
involved_in translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of aminoacyl-tRNA synthetase multienzyme complex	IBA Inferred from Biological aspect of Ancestor more info
part_of aminoacyl-tRNA synthetase multienzyme complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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; multisynthetase complex auxiliary component p18; p18 component of aminoacyl-tRNA synthetase complex

NCBI Reference Sequences (RefSeq)

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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)

NM_001135650.2 → NP_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/TrEMBL

C9J1V9

Related

ENSP00000414363.2, ENST00000429723.6

Conserved Domains (1) summary

cl02776
Location:65 → 128

GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
NM_004280.5 → NP_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

C9JLK5, O43324, Q5THS2

Related

ENSP00000369038.5, ENST00000379715.10

Conserved Domains (1) summary

cd10305
Location:65 → 165

GST_C_AIMP3; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 3