ELP5
Elongator Acetyltransferase Complex Subunit 5
Gene Information Card
| Symbol | ELP5 |
|---|---|
| Full Name | Elongator Acetyltransferase Complex Subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 114791 ncbi.nlm.nih.gov/gene/114791 |
| Ensembl ID | ENSG00000108561 |
| UniProt ID | Q8N6J7 |
| OMIM ID | 615019 |
| HGNC ID | 29364 |
| Aliases | DERP6, MSTP071, HSPC017 |
Description
ELP5 encodes a subunit of the elongator complex, which is involved in transcriptional elongation, tRNA modification, and exocytosis. The elongator complex catalyzes the formation of 5-methoxycarbonylmethyl (mcm5) and 5-carbamoylmethyl (ncm5) modifications on uridine bases of tRNAs, affecting translation fidelity. ELP5 is essential for complex assembly and stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | Loss-of-function mutations in ELP5 impair elongator complex activity, leading to defective tRNA modification and translational dysregulation, particularly in neurons. | ClinVar, OMIM |
| Intellectual disability | ELP5 mutations are associated with autosomal recessive intellectual disability, likely due to disrupted neuronal protein synthesis. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Medium |
| Thyroid | 7.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| K562 | 6.4 | Low expression |
| SH-SY5Y | 9.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.322C>T (p.Arg108Trp) | Missense | Rare | Loss of function; disrupts protein stability |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; abolishes translation initiation |
| c.448_449del (p.Leu150fs) | Frameshift | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Most reported ELP5 mutations are loss-of-function, leading to reduced elongator complex activity and impaired tRNA modification.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ELP5.
Dominant Negative (DN)
No dominant-negative mutations have been described for ELP5.
View complete mutation data：
Gene Ontology (GO)
| • tRNA wobble uridine modification | • transcription elongation by RNA polymerase II |
| • elongator complex | • cytosol |
| • nucleus |
Pathways
• tRNA modification in the nucleus and cytosol
• Elongator complex pathway
Protein Summary
ELP5 is a 66-amino acid protein that forms part of the elongator complex. It interacts with ELP4 and ELP6 to stabilize the complex. The protein is localized in the nucleus and cytosol and is required for efficient tRNA modification and transcriptional elongation.
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