EBF1: Early B-Cell Factor 1
A master regulator of B-cell development and immune function
Gene Information Card
| Symbol | EBF1 |
|---|---|
| Full Name | Early B-Cell Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 1879 ncbi.nlm.nih.gov/gene/1879 |
| Ensembl ID | ENSG00000164362 |
| UniProt ID | Q9UH73 |
| OMIM ID | 164343 |
| HGNC ID | 3126 |
| Aliases | EBF, O/E-1, OLF1, COE1, EBF1 |
Description
EBF1 (Early B-Cell Factor 1) encodes a transcription factor essential for B-cell lineage commitment and differentiation. It binds to DNA as a homodimer or heterodimer with EBF2/3, regulating genes critical for B-cell receptor signaling and immunoglobulin rearrangement. EBF1 is also involved in neuronal development and adipogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | EBF1 deletions or mutations impair B-cell differentiation, contributing to leukemogenesis | ClinVar, COSMIC |
| B-cell acute lymphoblastic leukemia (B-ALL) | EBF1 rearrangements (e.g., with PAX5) disrupt transcriptional networks | COSMIC, NCBI |
| Primary immunodeficiency | Loss-of-function EBF1 mutations cause agammaglobulinemia and B-cell deficiency | OMIM, ClinVar |
| Multiple myeloma | EBF1 dysregulation linked to plasma cell malignancies | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Lymph node | 8.3 | Medium |
| Spleen | 7.1 | Medium |
| Brain | 4.2 | Low |
| Adipose tissue | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.2 | B-cell line |
| Nalm6 (B-ALL) | 14.8 | Pre-B cell line |
| HEK293 | 2.1 | Non-hematopoietic control |
| K562 (CML) | 1.5 | Myeloid line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | <1% | Loss of function; truncation |
| c.1246G>A (p.Gly416Arg) | Missense | <0.5% | Impaired DNA binding |
| EBF1-PAX5 fusion | Structural rearrangement | <1% | Oncogenic fusion in B-ALL |
| Deletion (exon 1-3) | Copy number loss | 2-5% in B-ALL | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and deletion mutations that reduce or abolish EBF1 activity, leading to B-cell developmental arrest and immunodeficiency.
Gain of Function (GOF)
Not well characterized; rare missense variants may enhance activity but are not clinically validated.
Dominant Negative (DN)
Some missense mutations (e.g., p.Gly416Arg) may interfere with dimerization and DNA binding, exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• B-cell receptor signaling pathway (Reactome: R-HSA-983705)
• Transcriptional regulation of B-cell development (KEGG: hsa04662)
• Pre-B cell differentiation (WikiPathways: WP3943)
Protein Summary
EBF1 is a 591-amino acid transcription factor containing a DNA-binding domain (DBD), an immunoglobulin-like fold, and a helix-loop-helix (HLH) motif. It forms homodimers or heterodimers with EBF2/3 to regulate target genes such as CD79A, PAX5, and VPREB1. EBF1 is critical for early B-cell development and is frequently altered in B-cell malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SREBF1 Knockout HEK293 Cell Line | EDJ-KQ1869 | Human | 6720 | Details Get a Quote |
| EBF1 Knockout HEK293 Cell Line | EDJ-KQ2010 | Human | 1879 | Details Get a Quote |
| EBF1 Knockout A-549 Cell Line | EDJ-KQ22029 | Human | 1879 | Details Get a Quote |
| SREBF1 Knockout A-549 Cell Line | EDJ-KQ20439 | Human | 6720 | Details Get a Quote |
| EBF1 Knockout HeLa Cell Line | EDJ-KQ20731 | Human | 1879 | Details Get a Quote |
| SREBF1 Knockout HCT 116 Cell Line | EDJ-KQ21744 | Human | 6720 | Details Get a Quote |
| SREBF1 Knockout HeLa Cell Line | EDJ-KQ21745 | Human | 6720 | Details Get a Quote |
| EBF1 Knockout HCT 116 Cell Line | EDJ-KQ70093 | Human | 1879 | Details Get a Quote |
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