Human Gene EEF1E1 (ENST00000379715.10) from GENCODE V44
  Description: Homo sapiens eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1), transcript variant 1, mRNA. (from RefSeq NM_004280)
RefSeq Summary (NM_004280): 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].
Gencode Transcript: ENST00000379715.10
Gencode Gene: ENSG00000124802.12
Transcript (Including UTRs)
   Position: hg38 chr6:8,079,395-8,102,548 Size: 23,154 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr6:8,079,890-8,102,521 Size: 22,632 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:8,079,395-8,102,548)mRNA (may differ from genome)Protein (174 aa)
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OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MCA3_HUMAN
DESCRIPTION: RecName: Full=Eukaryotic translation elongation factor 1 epsilon-1; AltName: Full=Aminoacyl tRNA synthetase complex-interacting multifunctional protein 3; AltName: Full=Elongation factor p18; AltName: Full=Multisynthase complex auxiliary component p18;
FUNCTION: Positive modulator of ATM response to DNA damage.
SUBUNIT: Component of the multisynthase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl and aspartyl-tRNA synthases, and three auxiliary proteins, EEF1E1/p18, AIMP2/p38 and AIMP1/p43. 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.
INTERACTION: P04591:gag (xeno); NbExp=4; IntAct=EBI-1048486, EBI-6179719;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic under growth arrest conditions. Translocated into the nucleus when growth resumes (S phase) and following DNA damage.
TISSUE SPECIFICITY: Down-regulated in various cancer tissues.
INDUCTION: By DNA damaging agents such as UV, adriamycin, actinomycin-D and cisplatin.
SIMILARITY: Contains 1 GST C-terminal domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.72 RPKM in Testis
Total median expression: 201.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.8027-0.178 Picture PostScript Text
3' UTR -96.00495-0.194 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010987 - Glutathione-S-Trfase_C-like
IPR017933 - Glutathione_S_Trfase/Cl_chnl_C
IPR004046 - GST_C
IPR012336 - Thioredoxin-like_fold

Pfam Domains:
PF00043 - Glutathione S-transferase, C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2UZ8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O43324
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004364 glutathione transferase activity
GO:0005515 protein binding

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006749 glutathione metabolic process
GO:0008285 negative regulation of cell proliferation
GO:0043065 positive regulation of apoptotic process
GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:2000774 positive regulation of cellular senescence

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex


-  Descriptions from all associated GenBank mRNAs
  BC005291 - Homo sapiens eukaryotic translation elongation factor 1 epsilon 1, mRNA (cDNA clone MGC:12352 IMAGE:3685030), complete cds.
JD565579 - Sequence 546603 from Patent EP1572962.
JD284995 - Sequence 266019 from Patent EP1572962.
JD480847 - Sequence 461871 from Patent EP1572962.
AF054186 - Homo sapiens p18 protein mRNA, complete cds.
JD530652 - Sequence 511676 from Patent EP1572962.
JD314192 - Sequence 295216 from Patent EP1572962.
BT007306 - Homo sapiens eukaryotic translation elongation factor 1 epsilon 1 mRNA, complete cds.
DQ893502 - Synthetic construct clone IMAGE:100006132; FLH194543.01X; RZPDo839C0680D eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1) gene, encodes complete protein.
CU675089 - Synthetic construct Homo sapiens gateway clone IMAGE:100016742 5' read EEF1E1 mRNA.
KJ904627 - Synthetic construct Homo sapiens clone ccsbBroadEn_14021 EEF1E1 gene, encodes complete protein.
AB011079 - Homo sapiens mRNA for p18 component of aminoacyl-tRNA synthetase complex, complete cds.
EU176776 - Synthetic construct Homo sapiens clone IMAGE:100011630; FLH263979.01L; RZPDo839B04245D eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1) gene, encodes complete protein.
JD022599 - Sequence 3623 from Patent EP1572962.
JD029186 - Sequence 10210 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43324 (Reactome details) participates in the following event(s):

R-HSA-380008 lysine + tRNA(Lys) + ATP => Lys-tRNA(Lys) + AMP + pyrophosphate
R-HSA-379974 leucine + tRNA(Leu) + ATP => Leu-tRNA(Leu) + AMP + pyrophosphate
R-HSA-379861 glutamate + tRNA(Glu) + ATP => Glu-tRNA(Glu) + AMP + pyrophosphate
R-HSA-379893 isoleucine + tRNA(Ile) + ATP => Ile-tRNA(Ile) + AMP + pyrophosphate
R-HSA-379865 proline + tRNA(Pro) + ATP => Pro-tRNA(Pro) + AMP + pyrophosphate
R-HSA-379994 methionine + tRNA(Met) + ATP => Met-tRNA(Met) + AMP + pyrophosphate
R-HSA-379867 aspartate + tRNA(Asp) + ATP => Asp-tRNA(Asp) + AMP + pyrophosphate
R-HSA-379982 glutamine + tRNA(Gln) + ATP => Gln-tRNA(Gln) + AMP + pyrophosphate
R-HSA-379993 arginine + tRNA(Arg) + ATP => Arg-tRNA(Arg) + AMP + pyrophosphate
R-HSA-2408546 tRNA(Met) is selenomethionylated to SeMet-tRNA(Met) by multisynthetase complex
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-2408517 SeMet incorporation into proteins
R-HSA-379724 tRNA Aminoacylation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-72766 Translation
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-392499 Metabolism of proteins
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AIMP3, ENST00000379715.1, ENST00000379715.2, ENST00000379715.3, ENST00000379715.4, ENST00000379715.5, ENST00000379715.6, ENST00000379715.7, ENST00000379715.8, ENST00000379715.9, MCA3_HUMAN, NM_004280, O43324, P18, Q5THS2, uc003mxz.1, uc003mxz.2, uc003mxz.3, uc003mxz.4, uc003mxz.5
UCSC ID: ENST00000379715.10
RefSeq Accession: NM_004280
Protein: O43324 (aka MCA3_HUMAN)
CCDS: CCDS4507.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.