ELP6 (Elongator Acetyltransferase Complex Subunit 6)
A component of the elongator complex involved in tRNA modification and transcriptional elongation
Gene Information Card
| Symbol | ELP6 |
|---|---|
| Full Name | Elongator Acetyltransferase Complex Subunit 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 54859 ncbi.nlm.nih.gov/gene/54859 |
| Ensembl ID | ENSG00000114544 |
| UniProt ID | Q8TEA8 |
| OMIM ID | 615892 |
| HGNC ID | 26267 |
| Aliases | C3orf75, FLJ10305, HSPC128 |
Description
ELP6 encodes a subunit of the elongator complex, which is involved in transcriptional elongation and tRNA modification. The elongator complex catalyzes the formation of 5-methoxycarbonylmethyl (mcm5) and 5-carbamoylmethyl (ncm5) modifications on uridine bases of tRNAs, essential for accurate translation. ELP6 is required for complex stability and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | Loss-of-function mutations in ELP6 impair elongator complex activity, leading to defective tRNA modification and translational dysregulation | ClinVar, OMIM |
| Intellectual disability | Disruption of elongator complex affects neuronal translation and development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.3 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging; disrupts protein folding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent ELP6 protein, impairing elongator complex assembly and tRNA modification.
Gain of Function (GOF)
No gain-of-function mutations reported for ELP6.
Dominant Negative (DN)
No dominant-negative mutations reported for ELP6.
View complete mutation data：
Gene Ontology (GO)
| • tRNA wobble base 5-methoxycarbonylmethyl modification | • transcription elongation by RNA polymerase II |
| • elongator complex | • nucleus |
| • cytoplasm |
Pathways
• Elongator complex pathway
• tRNA modification in the nucleus and cytoplasm
Protein Summary
ELP6 is a 273-amino-acid protein that localizes to the nucleus and cytoplasm. It is a structural component of the elongator complex, interacting with other subunits (ELP1-5) to stabilize the holoenzyme. The protein contains a conserved domain of unknown function (DUF) and is essential for the complex's tRNA modification activity.
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|---|---|---|---|---|
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