ELL Gene - Elongation Factor for RNA Polymerase II | Function, Mutations & Disease

The ELL gene encodes a protein that functions as an RNA polymerase II elongation factor. It increases the catalytic rate of RNA polymerase II by suppressing transient pausing along the DNA template. ELL is also a component of the super elongation complex (SEC) and plays roles in transcriptional regulation, cell cycle control, and development. Chromosomal rearrangements involving ELL are associated with acute myeloid leukemia.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• RNA Polymerase II Transcription Elongation (Reactome R-HSA-75955)

• Super Elongation Complex (SEC) (Reactome R-HSA-8866654)

• MLL-ELL Fusion in Leukemia (KEGG hsa05202)

The ELL protein (UniProt P55199) is 621 amino acids long and contains an N-terminal domain essential for elongation activity. It binds directly to RNA polymerase II and stimulates its processivity. ELL also interacts with other SEC components such as AFF1/4, ENL, and AF9. The protein is predominantly nuclear and is expressed in hematopoietic tissues, testis, and brain. Post-translational modifications include phosphorylation and ubiquitination, which may regulate its stability and function.