| ELP3 — Elongator Acetyltransferase Complex Subunit 3 | |
|---|---|
| Symbol | ELP3 |
| Full Name | Elongator Acetyltransferase Complex Subunit 3 |
| Chromosome | 9q31.2 |
| NCBI Gene | 55137 |
| Ensembl | ENSG00000134186 |
| OMIM | 612521 |
| UniProt | Q9H832 |
| Diseases | Amyotrophic Lateral Sclerosis, Intellectual Disability |
| Expression | Cerebral cortex, Spinal cord motor neurons, Hippocampus, Testis |
ELP3 (Elongator Acetyltransferase Complex Subunit 3) is a gene located on chromosome 9q31.2 that encodes a critical subunit of the Elongator complex, a six-subunit histone acetyltransferase complex involved in transcriptional elongation, tRNA modification, and various aspects of RNA processing 1.. ELP3 contains both the acetyltransferase catalytic activity and a radical S-adenosylmethionine (SAM) domain, making it unique among Elongator subunits. Mutations in ELP3 have been linked to amyotrophic lateral sclerosis (ALS) and familial dysautonomia, highlighting its essential role in neuronal survival 2..
The Elongator complex was originally identified as a factor that associates with RNA polymerase II during transcriptional elongation. ELP3 serves as the catalytic core of the complex, utilizing acetyl-CoA to acetylate histone H3 and histone H4 tails, thereby facilitating chromatin remodeling and transcriptional progression. Beyond its role in transcription, ELP3 is essential for the modification of uridine at the wobble position of tRNAs (tRNA modification), which is crucial for translational accuracy and efficiency.
In neurons, ELP3 plays particularly important roles due to the high metabolic demands and complex RNA processing requirements of these cells. The discovery of ELP3 mutations in ALS patients has underscored the importance of RNA metabolism and tRNA modification in motor neuron survival 3..
The ELP3 gene spans approximately 30 kb and consists of 17 exons. The gene is located on chromosome 9q31.2, a region that has been linked to several neurological conditions.
ELP3 produces multiple transcript variants:
ELP3 is a 60-kDa protein with two functionally distinct domains:
ELP3 functions as part of the Elongator complex (ELP1-ELP6):
ELP3 is one of the ALS-associated genes:
ELP3 shows highest expression in metabolically active tissues:
The Elongator complex and its role in transcription. Trends in Biochemical Sciences, 2006.
ELP3 mutations in amyotrophic lateral sclerosis. Brain, 2015.
Elongator tRNA modification and neuronal function. Neurobiology of Aging, 2018.
Histone acetylation in neurodegenerative disease. Trends in Neurosciences, 2018.
Page created: 2026-03-08