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

    Gene ID: 9521, updated on 17-Jun-2024

    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
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    Genomic context

    See EEF1E1 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (8073360..8102548, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7942094..7971293, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (8073593..8102781, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BLOC1S5-TXNDC5 readthrough (NMD candidate) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7986177-7986678 Neighboring gene EEF1E1-BLOC1S5 readthrough (NMD candidate) Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:8012284-8012492 Neighboring gene MPRA-validated peak5648 silencer Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:8063830-8064456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23957 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:8102180-8102365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16896 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:8109366-8109558 Neighboring gene small Cajal body-specific RNA 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23958 Neighboring gene uncharacterized LOC105374910 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:8180101-8180646 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:8230067-8230588 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

    EBI GWAS Catalog

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

    Gene Ontology Provided by GOA

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

    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)

    NEW Try the new Transcript table

    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/TrEMBL
      C9J1V9
      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
      C9JLK5, O43324, Q5THS2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      7942094..7971293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)