Aliases for EEF1E1 Gene
External Ids for EEF1E1 Gene
Previous HGNC Symbols for EEF1E1 Gene
Previous GeneCards Identifiers 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 Developmental And Epileptic Encephalopathy 29 and Robinow Syndrome, Autosomal Recessive 1. Among its related pathways are Viral mRNA Translation and tRNA Aminoacylation. An important paralog of this gene is EEF1E1-BLOC1S5.
UniProtKB/Swiss-Prot Summary for EEF1E1 Gene
Positive modulator of ATM response to DNA damage.