ELL3: Elongation Factor for RNA Polymerase II, 3
A component of the super elongation complex (SEC) involved in transcriptional elongation and RNA polymerase II regulation.
Gene Information Card
| Symbol | ELL3 |
|---|---|
| Full Name | Elongation Factor for RNA Polymerase II, 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 80237 ncbi.nlm.nih.gov/gene/80237 |
| Ensembl ID | ENSG00000137804 |
| UniProt ID | Q9HB65 |
| OMIM ID | 609159 |
| HGNC ID | 14276 |
| Aliases | ELL3, elongation factor RNA polymerase II-like 3 |
Description
ELL3 is a protein-coding gene that encodes a component of the super elongation complex (SEC). The SEC is involved in the release of RNA polymerase II from promoter-proximal pausing, facilitating transcriptional elongation. ELL3 is expressed in various tissues and plays a role in development, cell differentiation, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | ELL3 overexpression or mutation may disrupt transcriptional elongation, contributing to oncogenesis. | COSMIC; NCBI Gene |
| Developmental disorders | ELL3 is essential for embryonic development; mutations may lead to developmental abnormalities. | OMIM; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.0 | Medium |
| Thyroid | 10.2 | Medium |
| Prostate | 8.5 | Low |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney |
| HeLa | 9.5 | Cervical cancer |
| K562 | 7.8 | Leukemia |
| A549 | 6.2 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ELL3 are rare and may impair SEC function, leading to reduced transcriptional elongation efficiency.
Gain of Function (GOF)
Gain-of-function mutations have not been well characterized; overexpression in some cancers suggests potential oncogenic role.
Dominant Negative (DN)
No dominant-negative mutations reported for ELL3.
View complete mutation data：
Gene Ontology (GO)
| • transcription (GO:0006351) | • regulation of transcription (GO:0006355) |
| • transcription elongation from RNA polymerase II promoter (GO:0006368) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) |
Pathways
• Super elongation complex (SEC) pathway
• RNA polymerase II transcription elongation
Protein Summary
The ELL3 protein is a 609-amino acid component of the super elongation complex (SEC). It contains an ELL/Elongin family domain and interacts with other SEC subunits to promote RNA polymerase II pause release and transcriptional elongation. ELL3 is localized to the nucleus and is involved in regulating gene expression during development and cellular differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELL3 Knockout HEK293 Cell Line | EDJ-KQ51738 | Human | 80237 | Details Get a Quote |
| ELL3 Knockout HeLa Cell Line | EDJ-KQ57314 | Human | 80237 | Details Get a Quote |
| ELL3 Knockout A-549 Cell Line | EDJ-KQ65820 | Human | 80237 | Details Get a Quote |
| ELL3 Knockout HCT 116 Cell Line | EDJ-KQ74243 | Human | 80237 | Details Get a Quote |
