ELP4 Gene: Elongator Acetyltransferase Complex Subunit 4
Genetic and functional insights into ELP4, a component of the elongator complex involved in transcriptional elongation, tRNA modification, and neurodevelopmental disorders.
Gene Information Card
| Symbol | ELP4 |
|---|---|
| Full Name | Elongator Acetyltransferase Complex Subunit 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 26610 ncbi.nlm.nih.gov/gene/26610 |
| Ensembl ID | ENSG00000109920 |
| UniProt ID | Q96EB1 |
| OMIM ID | 606985 |
| HGNC ID | 29313 |
| Aliases | PAF49, C11orf19, FLJ10534 |
Description
ELP4 encodes subunit 4 of the elongator complex, a six-subunit histone acetyltransferase complex that facilitates transcriptional elongation by RNA polymerase II. The elongator complex also plays a role in tRNA modification, specifically wobble uridine modification, and is implicated in cytoskeletal organization, exocytosis, and neuronal development. ELP4 mutations are associated with neurodevelopmental disorders, including epilepsy and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, focal, with speech disorder and with or without mental retardation | Missense and frameshift mutations in ELP4 disrupt elongator complex function, impairing tRNA modification and neuronal gene expression | ClinVar, OMIM |
| Intellectual disability, autosomal dominant | De novo loss-of-function variants in ELP4 reduce elongator activity, affecting neuronal development | ClinVar, OMIM |
| Developmental and epileptic encephalopathy | Biallelic ELP4 mutations cause severe neurodevelopmental phenotypes via defective tRNA modification | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.7 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells |
| SH-SY5Y | 18.7 | Neuroblastoma cells |
| HeLa | 10.4 | Cervical carcinoma cells |
| HepG2 | 7.8 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.464G>A (p.Arg155Gln) | Missense | Rare | Reduced elongator complex stability and activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.124_125del (p.Leu42Valfs*2) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, frameshift, and start-loss mutations that reduce or abolish ELP4 protein function, impairing elongator complex assembly and tRNA modification.
Gain of Function (GOF)
No gain-of-function mutations reported for ELP4.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg155Gln) may exert dominant-negative effects by disrupting elongator complex integrity.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytosol (GO:0005829) | • elongator holoenzyme complex (GO:0033588) |
| • regulation of transcription (GO:0006355) | • tRNA modification (GO:0006400) |
Pathways
• Elongator complex pathway (Reactome: R-HSA-112382)
• tRNA modification in the nucleus and cytosol (Reactome: R-HSA-6782315)
Protein Summary
ELP4 is a 46 kDa protein that forms part of the elongator complex's core subcomplex (ELP1-ELP2-ELP3-ELP4-ELP5-ELP6). It stabilizes the complex and is essential for its histone acetyltransferase activity and tRNA modification function. ELP4 is ubiquitously expressed, with highest levels in brain and testis. Structural studies indicate ELP4 contains WD40 repeats that mediate protein-protein interactions within the complex.
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