TAL1 Gene (T-Cell Acute Lymphocytic Leukemia 1)
Basic helix-loop-helix transcription factor involved in hematopoiesis and T-cell acute lymphoblastic leukemia
Gene Information Card
| Symbol | TAL1 |
|---|---|
| Full Name | T-cell acute lymphocytic leukemia 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 6886 ncbi.nlm.nih.gov/gene/6886 |
| Ensembl ID | ENSG00000162367 |
| UniProt ID | P17542 |
| OMIM ID | 187040 |
| HGNC ID | 11556 |
| Aliases | SCL, TCL5, bHLHa17 |
Description
TAL1 (T-cell acute lymphocytic leukemia 1) encodes a basic helix-loop-helix (bHLH) transcription factor essential for hematopoietic stem cell specification and erythroid/megakaryocytic differentiation. It forms heterodimers with E-proteins (e.g., TCF3) and regulates target genes involved in cell proliferation and differentiation. Aberrant expression due to chromosomal rearrangements or mutations drives T-cell acute lymphoblastic leukemia (T-ALL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | Chromosomal translocations (e.g., t(1;14)(p33;q11)) or SIL-TAL1 deletions cause ectopic TAL1 expression in T-cells, blocking differentiation and promoting leukemogenesis. | COSMIC, ClinVar, OMIM |
| Acute myeloid leukemia (AML) | TAL1 overexpression via cryptic rearrangements contributes to leukemic transformation in some AML subtypes. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Thymus | 6.1 | Low |
| Whole Blood | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 45.2 | High expression; used as positive control |
| Jurkat (T-ALL) | 38.7 | High expression due to SIL-TAL1 fusion |
| HEK293 | 0.5 | Very low; not endogenous |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| SIL-TAL1 fusion (intragenic deletion) | Structural variant | ~25% of T-ALL cases | Ectopic TAL1 expression; gain-of-function |
| t(1;14)(p33;q11) | Translocation | ~3% of T-ALL | TCR enhancer drives TAL1 overexpression |
| p.Arg217Trp | Missense | <1% | Loss of DNA-binding; reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Rare missense mutations in the bHLH domain (e.g., p.Arg217Trp) impair DNA binding and transactivation.
Gain of Function (GOF)
SIL-TAL1 fusion and t(1;14) cause ectopic overexpression, driving T-ALL.
Dominant Negative (DN)
Not well documented; some mutant forms may interfere with E-protein dimerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hematopoietic stem cell differentiation (WP2848)
• T-cell receptor signaling pathway (WP69)
• Notch signaling pathway (WP268)
Protein Summary
TAL1 (SCL) is a 331-amino-acid bHLH transcription factor that heterodimerizes with E-proteins (TCF3, TCF4) to regulate gene expression in hematopoietic progenitors. It is critical for erythroid and megakaryocytic lineage commitment. In T-ALL, aberrant TAL1 expression disrupts normal T-cell development, leading to leukemogenesis. The protein contains a basic DNA-binding domain and a helix-loop-helix dimerization domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAL1 Knockout HEK293 Cell Line | EDJ-KQ1647 | Human | 6886 | Details Get a Quote |
| TAL1 Knockout HeLa Cell Line | EDJ-KQ54611 | Human | 6886 | Details Get a Quote |
| TAL1 Knockout A-549 Cell Line | EDJ-KQ63092 | Human | 6886 | Details Get a Quote |
| TAL1 Knockout HCT 116 Cell Line | EDJ-KQ71564 | Human | 6886 | Details Get a Quote |
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