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. Alt... See more...

Aliases for EEF1E1 Gene

Aliases for EEF1E1 Gene

  • Eukaryotic Translation Elongation Factor 1 Epsilon 1 2 3 5
  • Aminoacyl TRNA Synthetase Complex-Interacting Multifunctional Protein 3 2 3 4
  • Eukaryotic Translation Elongation Factor 1 Epsilon-1 3 4
  • Multisynthase Complex Auxiliary Component P18 3 4
  • AIMP3 3 4
  • P18 3 4
  • P18 Component Of Aminoacyl-TRNA Synthetase Complex 3
  • ARS-Interacting Multifunctional Protein 3 3
  • Elongation Factor P18 4

External Ids for EEF1E1 Gene

Previous HGNC Symbols for EEF1E1 Gene

  • P18

Previous GeneCards Identifiers for EEF1E1 Gene

  • GC06M008064
  • GC06M008024

Summaries for EEF1E1 Gene

Entrez Gene Summary for EEF1E1 Gene

  • 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]

GeneCards Summary for EEF1E1 Gene

EEF1E1 (Eukaryotic Translation Elongation Factor 1 Epsilon 1) is a Protein Coding gene. Diseases associated with EEF1E1 include Robinow Syndrome, Autosomal Recessive 1. Among its related pathways are Gene Expression and tRNA Aminoacylation. An important paralog of this gene is EEF1E1-BLOC1S5.

UniProtKB/Swiss-Prot Summary for EEF1E1 Gene

Gene Wiki entry for EEF1E1 Gene

Additional gene information for EEF1E1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EEF1E1 Gene

Genomics for EEF1E1 Gene

GeneHancer (GH) Regulatory Elements for EEF1E1 Gene

Promoters and enhancers for EEF1E1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EEF1E1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EEF1E1

Top Transcription factor binding sites by QIAGEN in the EEF1E1 gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • Lhx3a
  • LHX3b
  • Sp1
  • TBP
  • TFIID

Genomic Locations for EEF1E1 Gene

Genomic Locations for EEF1E1 Gene
chr6:8,073,360-8,102,595
(GRCh38/hg38)
Size:
29,236 bases
Orientation:
Minus strand
chr6:8,073,593-8,102,828
(GRCh37/hg19)
Size:
29,236 bases
Orientation:
Minus strand

Genomic View for EEF1E1 Gene

Genes around EEF1E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EEF1E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EEF1E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EEF1E1 Gene

Proteins for EEF1E1 Gene

  • Protein details for EEF1E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43324-MCA3_HUMAN
    Recommended name:
    Eukaryotic translation elongation factor 1 epsilon-1
    Protein Accession:
    O43324
    Secondary Accessions:
    • C9JLK5
    • Q5THS2

    Protein attributes for EEF1E1 Gene

    Size:
    174 amino acids
    Molecular mass:
    19811 Da
    Quaternary structure:
    • Part of a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS1), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464). Can interact simultaneously with MARS and EPRS (PubMed:26472928). Forms a linear complex that contains MARS, EEF1E1, EPRS and AIMP2 that is at the core of the multisubunit complex (PubMed:26472928). Interacts with ATM and ATR. The interaction with ATM, which takes place independently of TP53, is induced by DNA damage that may occur during genotoxic stress or cell growth. The interaction with ATR is enhanced by UV irradiation.

    Three dimensional structures from OCA and Proteopedia for EEF1E1 Gene

    Alternative splice isoforms for EEF1E1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EEF1E1 Gene

Post-translational modifications for EEF1E1 Gene

  • Ubiquitination at Lys12
  • Modification sites at PhosphoSitePlus

Other Protein References for EEF1E1 Gene

No data available for DME Specific Peptides for EEF1E1 Gene

Domains & Families for EEF1E1 Gene

Gene Families for EEF1E1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for EEF1E1 Gene

Suggested Antigen Peptide Sequences for EEF1E1 Gene

GenScript: Design optimal peptide antigens:
  • Multisynthase complex auxiliary component p18 (MCA3_HUMAN)
genes like me logo Genes that share domains with EEF1E1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EEF1E1 Gene

Function for EEF1E1 Gene

Molecular function for EEF1E1 Gene

UniProtKB/Swiss-Prot Function:
Positive modulator of ATM response to DNA damage.
UniProtKB/Swiss-Prot Induction:
By DNA damaging agents such as UV, adriamycin, actinomycin-D and cisplatin.
GENATLAS Biochemistry:
eukaryotic translation elongation factor 1,epsilon 1

Phenotypes From GWAS Catalog for EEF1E1 Gene

Gene Ontology (GO) - Molecular Function for EEF1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with EEF1E1: view
genes like me logo Genes that share phenotypes with EEF1E1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for EEF1E1

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EEF1E1 Gene

Localization for EEF1E1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EEF1E1 Gene

Cytoplasm. Cytoplasm, cytosol. Nucleus. Note=Cytoplasmic under growth arrest conditions. Translocated into the nucleus when growth resumes (S phase) and following DNA damage.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EEF1E1 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EEF1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,ISS --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with EEF1E1: view

Pathways & Interactions for EEF1E1 Gene

genes like me logo Genes that share pathways with EEF1E1: view

Gene Ontology (GO) - Biological Process for EEF1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0008285 negative regulation of cell proliferation ISS --
GO:0043065 positive regulation of apoptotic process ISS --
GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator ISS,IEA --
genes like me logo Genes that share ontologies with EEF1E1: view

No data available for SIGNOR curated interactions for EEF1E1 Gene

Drugs & Compounds for EEF1E1 Gene

(2) Additional Compounds for EEF1E1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EEF1E1: view

Transcripts for EEF1E1 Gene

mRNA/cDNA for EEF1E1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EEF1E1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6
SP1: - - -
SP2: - - - -
SP3: -
SP4:

Relevant External Links for EEF1E1 Gene

GeneLoc Exon Structure for
EEF1E1

Expression for EEF1E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EEF1E1 Gene

Protein differential expression in normal tissues from HIPED for EEF1E1 Gene

This gene is overexpressed in Bone (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EEF1E1 Gene



Protein tissue co-expression partners for EEF1E1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EEF1E1

SOURCE GeneReport for Unigene cluster for EEF1E1 Gene:

Hs.745033

mRNA Expression by UniProt/SwissProt for EEF1E1 Gene:

O43324-MCA3_HUMAN
Tissue specificity: Down-regulated in various cancer tissues.

Evidence on tissue expression from TISSUES for EEF1E1 Gene

  • Nervous system(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with EEF1E1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EEF1E1 Gene

Orthologs for EEF1E1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EEF1E1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EEF1E1 31 30
  • 99.23 (n)
OneToMany
dog
(Canis familiaris)
Mammalia -- 31
  • 95 (a)
OneToMany
EEF1E1 30
  • 92.49 (n)
cow
(Bos Taurus)
Mammalia EEF1E1 31 30
  • 89.79 (n)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Eef1e1 17 31 30
  • 86.59 (n)
rat
(Rattus norvegicus)
Mammalia Eef1e1 30
  • 83.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves EEF1E1 30
  • 75.86 (n)
-- 31
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia eef1e1 30
  • 67.64 (n)
Str.6247 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7661 30
zebrafish
(Danio rerio)
Actinopterygii eef1e1 31 30
  • 62.96 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30185 31
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2900 31
  • 34 (a)
OneToMany
Species where no ortholog for EEF1E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EEF1E1 Gene

ENSEMBL:
Gene Tree for EEF1E1 (if available)
TreeFam:
Gene Tree for EEF1E1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EEF1E1: view image

Paralogs for EEF1E1 Gene

Paralogs for EEF1E1 Gene

Pseudogenes.org Pseudogenes for EEF1E1 Gene

genes like me logo Genes that share paralogs with EEF1E1: view

Variants for EEF1E1 Gene

Additional dbSNP identifiers (rs#s) for EEF1E1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EEF1E1 Gene

Variant ID Type Subtype PubMed ID
esv2672674 CNV deletion 23128226
esv2731544 CNV deletion 23290073
esv3608025 CNV loss 21293372
nsv1133014 OTHER inversion 24896259
nsv1151332 OTHER inversion 26484159
nsv478355 CNV novel sequence insertion 20440878
nsv600924 CNV gain 21841781
nsv600927 CNV gain 21841781

Variation tolerance for EEF1E1 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EEF1E1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EEF1E1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EEF1E1 Gene

Disorders for EEF1E1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EEF1E1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
robinow syndrome, autosomal recessive 1
  • rrs1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EEF1E1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EEF1E1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EEF1E1 Gene

Publications for EEF1E1 Gene

  1. Dissection of the structural organization of the aminoacyl-tRNA synthetase complex. (PMID: 19131329) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4 23 54
  2. The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR. (PMID: 15680327) Park BJ … Kim S (Cell 2005) 3 4 23 54
  3. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 54
  4. Assembly of Multi-tRNA Synthetase Complex via Heterotetrameric Glutathione Transferase-homology Domains. (PMID: 26472928) Cho HY … Kim S (The Journal of biological chemistry 2015) 3 4 54
  5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41 54

Products for EEF1E1 Gene

Sources for EEF1E1 Gene