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Mutations in EFL1 (Montrer EFNA1 Anticorps) clinically manifest phenotypes of infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies. Mutant EFL1 (Montrer EFNA1 Anticorps) proteins do not promote the release of yeast cytoplasmic Tif6 from the 60S subunit, likely preventing the formation of mature ribosomes.
Association of Elongation Factor-like 1 (EFL1 (Montrer EFNA1 Anticorps)) GTPase (Montrer RACGAP1 Anticorps) to SBDS (Montrer SBDS Anticorps) did not modify the affinity for GTP (Montrer AK3 Anticorps) but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide.
Upon EFL1 (Montrer EFNA1 Anticorps) binding, SBDS (Montrer SBDS Anticorps) is repositioned around helix 69, thus facilitating a conformational switch in EFL1 (Montrer EFNA1 Anticorps) that displaces eIF6 (Montrer EIF6 Anticorps) by competing for an overlapping binding site on the 60S ribosomal subunit.
Downregulation of EFTUD1 induced cell-cycle arrest and apoptosis in gliomas by impairing ribosome biogenesis
Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits.
elongation factor Tu GTP-binding domain-containing protein 1
, elongation factor-like 1
, ribosome assembly 1 homolog