EAF1: ELL-Associated Factor 1
A transcriptional elongation factor implicated in leukemia and cellular proliferation
Gene Information Card
| Symbol | EAF1 |
|---|---|
| Full Name | ELL associated factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 85403 ncbi.nlm.nih.gov/gene/85403 |
| Ensembl ID | ENSG00000163872 |
| UniProt ID | Q96CJ1 |
| OMIM ID | 609872 |
| HGNC ID | 20907 |
| Aliases | EAF, U19/Eaf1 |
Description
EAF1 (ELL associated factor 1) encodes a protein that interacts with the ELL transcription elongation factor. This complex is part of the super elongation complex (SEC) and stimulates RNA polymerase II elongation. EAF1 is involved in transcriptional regulation and has been linked to leukemogenesis through MLL fusion protein interactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | EAF1 is a component of the super elongation complex; MLL-EAF1 fusions drive aberrant transcriptional elongation | PMID: 14525923 |
| Acute lymphoblastic leukemia | Recurrent MLL-EAF1 translocations identified in pediatric ALL | PMID: 14525923 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Testis | 8.9 | Low |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 14.8 | Leukemia cell line |
| HEK293 | 11.3 | Embryonic kidney |
| HeLa | 9.7 | Cervical carcinoma |
| Jurkat | 13.2 | T-cell leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1_? fusion with MLL | Translocation | Rare | Creates MLL-EAF1 fusion protein with constitutive activation of elongation |
| p.Arg100Trp | Missense | 0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no clear loss-of-function mutations reported in disease.
Gain of Function (GOF)
MLL-EAF1 fusions are gain-of-function, enhancing transcriptional elongation and leukemogenesis.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Super elongation complex (SEC)
• RNA polymerase II transcription elongation
Protein Summary
EAF1 is a 268-amino acid nuclear protein that binds ELL and is a core component of the super elongation complex. It enhances RNA polymerase II elongation and is essential for normal hematopoiesis. Chromosomal translocations fusing EAF1 to MLL produce oncogenic fusion proteins in acute leukemias.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EAF1 Knockout HEK293 Cell Line | EDJ-KQ10351 | Human | 85403 | Details Get a Quote |
| EAF1 Knockout A-549 Cell Line | EDJ-KQ37662 | Human | 85403 | Details Get a Quote |
| EAF1 Knockout HCT 116 Cell Line | EDJ-KQ37663 | Human | 85403 | Details Get a Quote |
| EAF1 Knockout HeLa Cell Line | EDJ-KQ37664 | Human | 85403 | Details Get a Quote |
