EEF1A2
Function
This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.
Involvement in disease
Developmental and epileptic encephalopathy 33
DEE33
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.
None
The disease is caused by variants affecting the gene represented in this entry.
Intellectual developmental disorder, autosomal dominant 38
MRD38
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Trimethylated at Lys-165 by EEF1AKMT3 (PubMed:28108655). Mono-, di-, and trimethylated at Lys-36 by EEF1AKMT4; trimethylated form is predominant. Methylation by EEF1AKMT4 contributes to the fine-tuning of translation rates for a subset of tRNAs (PubMed:28520920). Trimethylated at the N-terminus by METTL13 (PubMed:30143613). Mono- and dimethylated at Lys-55 by METTL13; dimethylated form is predominant (PubMed:30143613, PubMed:30612740).
Sequence Similarities
Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.
Tissue Specificity
Brain, heart, and skeletal muscle.
Cellular localization
- Nucleus
Alternative names
EEF1AL, STN, EEF1A2, Elongation factor 1-alpha 2, EF-1-alpha-2, Eukaryotic elongation factor 1 A-2, Statin-S1, eEF1A-2