ELP3
Function
Catalytic tRNA acetyltransferase subunit of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29415125). In the elongator complex, acts as a tRNA uridine(34) acetyltransferase by mediating formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (By similarity). May also act as a protein lysine acetyltransferase by mediating acetylation of target proteins; such activity is however unclear in vivo and recent evidences suggest that ELP3 primarily acts as a tRNA acetyltransferase (PubMed:29415125). Involved in neurogenesis: regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (PubMed:19185337). Required for acetylation of GJA1 in the developing cerebral cortex (By similarity).
Involvement in disease
Amyotrophic lateral sclerosis
ALS
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
None
The gene represented in this entry may act as a disease modifier.
Pathway
tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.
Post-translational modifications
Tyrosine-phosphorylated; phosphorylation on Tyr-202 does not affect elongator complex integrity or ELP3 protein stability (PubMed:31341009). Also serine/threonine-phosphorylated (PubMed:31341009).
Sequence Similarities
Belongs to the ELP3 family.
Tissue Specificity
Expressed in the cerebellum and spinal motor neurons.
Cellular localization
- Cytoplasm
- Nucleus
- Isoform 1
- Nucleus
- Isoform 2
- Cytoplasm
- Nucleus
Alternative names
Elongator complex protein 3, hELP3, tRNA uridine(34) acetyltransferase, ELP3