ELF1 Gene - E74 Like ETS Transcription Factor 1
A key regulator of hematopoietic gene expression and immune function
Gene Information Card
| Symbol | ELF1 |
|---|---|
| Full Name | E74 Like ETS Transcription Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 1997 ncbi.nlm.nih.gov/gene/1997 |
| Ensembl ID | ENSG00000120690 |
| UniProt ID | P32519 |
| OMIM ID | 189973 |
| HGNC ID | 3316 |
| Aliases | ETS-related transcription factor Elf-1, E74-like factor 1 |
Description
ELF1 (E74 Like ETS Transcription Factor 1) is a member of the ETS family of transcription factors. It binds to purine-rich DNA sequences (GGAA/T) and regulates the expression of genes involved in hematopoiesis, immune cell development, and inflammatory responses. ELF1 is expressed predominantly in hematopoietic tissues and plays critical roles in T-cell activation, B-cell differentiation, and myeloid cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | Dysregulation of ELF1 expression alters transcriptional programs promoting leukemogenesis | PMID: 23434518 |
| Systemic lupus erythematosus (SLE) | ELF1 polymorphisms affect immune gene expression and autoantibody production | PMID: 25605270 |
| Rheumatoid arthritis | ELF1 modulates inflammatory cytokine expression in synovial fibroblasts | PMID: 27540176 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 45.2 | High |
| Lymph node | 38.7 | High |
| Bone marrow | 32.1 | High |
| Thymus | 28.5 | High |
| Whole blood | 22.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 35.6 | Myelogenous leukemia cell line |
| Jurkat (T-cell) | 42.1 | T-cell leukemia line |
| Raji (B-cell) | 30.8 | Burkitt lymphoma line |
| HL-60 (promyeloblast) | 27.3 | Promyelocytic leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Met) | Missense | <0.01% | Altered DNA-binding affinity |
| c.832G>A (p.Glu278Lys) | Missense | <0.01% | Reduced transcriptional activity |
| c.1054_1055insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the ETS domain or disrupt nuclear localization lead to loss of DNA-binding and transcriptional activation.
Gain of Function (GOF)
Not well documented; rare missense variants may enhance transactivation but evidence is limited.
Dominant Negative (DN)
Truncated isoforms lacking the transactivation domain can interfere with wild-type ELF1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ETS family transcription factors (Reactome: R-HSA-9616222)
• Transcriptional regulation by RUNX1 (Reactome: R-HSA-8878171)
• T-cell receptor signaling pathway (KEGG: hsa04660)
Protein Summary
The ELF1 protein (UniProt P32519) is a 619-amino acid transcription factor containing a conserved ETS DNA-binding domain. It localizes to the nucleus and forms homodimers or heterodimers with other ETS factors. Post-translational modifications include phosphorylation and acetylation, which modulate its activity. ELF1 is essential for normal hematopoiesis and immune homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELF1 Knockout HEK293 Cell Line | EDJ-KQ4519 | Human | 1997 | Details Get a Quote |
| ELF1 Knockout A-549 Cell Line | EDJ-KQ27127 | Human | 1997 | Details Get a Quote |
| ELF1 Knockout HCT 116 Cell Line | EDJ-KQ27128 | Human | 1997 | Details Get a Quote |
| ELF1 Knockout HeLa Cell Line | EDJ-KQ27129 | Human | 1997 | Details Get a Quote |
