ELP3: Elongator Acetyltransferase Complex Subunit 3
A key component of the elongator complex involved in tRNA modification, transcriptional elongation, and neurological disorders.
Gene Information Card
| Symbol | ELP3 |
|---|---|
| Full Name | Elongator Acetyltransferase Complex Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.1 |
| NCBI Gene ID | 55140 ncbi.nlm.nih.gov/gene/55140 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9H9T3 |
| OMIM ID | 612722 |
| HGNC ID | 20696 |
| Aliases | ELP3, hELP3, KAT9, FLJ10422 |
Description
ELP3 encodes the catalytic subunit of the elongator complex, which is required for the modification of wobble uridine bases in tRNA. This modification is essential for accurate and efficient translation, particularly of codons ending in A or G. ELP3 also possesses histone acetyltransferase activity and has been implicated in transcriptional elongation, cytoskeletal organization, and neuronal development. Mutations in ELP3 are associated with amyotrophic lateral sclerosis (ALS) and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Impaired tRNA modification leading to translational stress and motor neuron degeneration | Simpson et al., 2009; OMIM #612722 |
| Intellectual Disability, Autosomal Recessive 70 | Loss of elongator function disrupts neuronal translation and development | OMIM #618127; ClinVar |
| Hereditary Spastic Paraplegia | Dysfunctional tRNA modification affecting axonal transport | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Cerebellum | 11.5 | Medium |
| Spinal cord | 10.3 | Medium |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.1 | Neuronal model |
| HeLa (cervical carcinoma) | 12.5 | High expression |
| HEK293 (embryonic kidney) | 11.8 | Commonly used |
| U87MG (glioblastoma) | 10.4 | Brain tumor line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.137G>A (p.Arg46His) | Missense | Rare | Reduced acetyltransferase activity; associated with ALS |
| c.776C>T (p.Thr259Met) | Missense | Rare | Impaired tRNA modification; intellectual disability |
| c.1168A>G (p.Thr390Ala) | Missense | Rare | Decreased elongator complex stability |
Mutation functional classification
Loss of Function (LOF)
Most ELP3 mutations reduce or abolish its acetyltransferase activity, impairing tRNA wobble modification and leading to translational defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ELP3.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting elongator complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase activity | • tRNA wobble uridine modification |
| • transcription elongation from RNA polymerase II promoter | • positive regulation of translation |
| • neuron projection development |
Pathways
• Elongator complex pathway
• tRNA modification in the nucleus and cytosol
• RNA polymerase II transcription elongation
Protein Summary
ELP3 is a 60 kDa protein that contains a C-terminal radical S-adenosylmethionine (SAM) domain and an N-terminal acetyltransferase domain. It forms the catalytic core of the elongator complex, which modifies tRNA wobble uridines (mcm5s2U) to ensure translational fidelity. ELP3 is highly expressed in neural tissues and is critical for neuronal development and survival.
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